Signal Transduction

No Pathway Network information available for Signal Transduction

Pathways in the Signal Transduction SuperPath

#NameSourceGenes
1Signal TransductionReactome
(see all 2572) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Signal Transduction SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 1EnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED28.91
2Noonan syndrome and noonan-related syndromeEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED17.54
3RasopathyEnrichmentATP6V1E1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS27.51
4Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP6, FGF17, FGF8, FGFR1, GNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, TAC3, TACR3, WDR115.88
5Hirschsprung disease 1EnrichmentAXIN2, ECE1, EDN3, EDNRB, ERBB2, ERBB3, GDNF, GLI3, IHH, NRG3, NRTN, NUP98, POLR2F, PROKR1, RET, SMO, SREBF15.60
6Adult hepatocellular carcinomaEnrichmentAXIN1, CASP8, CTNNB1, EGF, PIK3CA, TP53, TSC1, TSC24.91
7Semilobar holoprosencephalyEnrichmentCDON, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, PTCH1, SHH, SMC1A, STAG2, TGIF14.90
8Microform holoprosencephalyEnrichmentCDON, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, PTCH1, SHH, SUFU, TGIF14.72
9Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, COL1A1, COL3A1, COL5A1, COL5A2, FBN1, FLNA, HEY2, MYH11, MYLK, NOTCH1, PRKG1, SKI, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR24.27
10Lobar holoprosencephalyEnrichmentCDON, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, PTCH1, SHH, TGIF13.81
11Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA3.80
12Loeys-dietz syndromeEnrichmentFBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR23.66
13Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, FZD2, ROR2, WNT5A3.61
14HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN, RHEB3.61
15Noonan syndrome 3EnrichmentCLTC, HRAS, KRAS, PTPN11, RAF1, SOS13.57
16Gallbladder cancerEnrichmentBRAF, CTNNB1, KRAS, PIK3CA, SMAD4, TP533.57
17Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF1, SRGAP33.57
18Connective tissue diseaseEnrichmentACTA2, COL11A1, COL2A1, COL5A1, COL9A1, COL9A3, FBN1, FGFR3, NOTCH1, OFD1, SMAD3, SOX9, TGFBR2, TTC21B, WDR193.52
19Alobar holoprosencephalyEnrichmentCDON, DLL1, FGF8, FOXH1, GAS1, GLI2, PTCH1, SHH, STAG2, TGIF13.51
20Bladder cancerEnrichmentCDKN1A, CTNNB1, EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, NF1, PIK3CA, PTEN, TERT, TP53, TSC13.49
21Kallmann syndromeEnrichmentANOS1, DUSP6, FGF17, FGF8, FGFR1, FLRT3, IL17RD, POLR2F, PROK2, PROKR2, TACR3, WDR113.45
22MeningiomaEnrichmentAKT1, NF2, PDGFB, PIK3CA, PTEN, SMO, SUFU, TERT3.40
23Lip and oral cavity carcinomaEnrichmentABL1, BRAF, EGFR, HRAS, KIT, PIK3CA, STK11, TP533.40
24Colorectal cancerEnrichmentAKT1, AMER1, APC, AXIN2, BRAF, BUB1, BUB1B, CCND1, CTNNA1, CTNNB1, DLC1, EP300, ERBB2, FBXW7, FGFR2, FGFR3, FZD3, IGF2, MET, NRAS, PIK3CA, PIK3R1, PPARG, PTPN12, PTPRJ, RET, SMAD4, SOX9, SRC, TP533.36
25Septopreoptic holoprosencephalyEnrichmentCDON, DLL1, FGF8, FOXH1, GAS1, GLI2, PTCH1, SHH, TGIF13.29
26Midline interhemispheric variant of holoprosencephalyEnrichmentCDON, DLL1, FGF8, FOXH1, GAS1, GLI2, PTCH1, SHH, TGIF13.29
27Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CX3CR1, CXCL12, CXCR13.24
28Neural tube defectsEnrichmentDACT1, DLC1, FUZ, ITGB1, PARD3, SCRIB, VANGL1, VANGL23.07
29Nk-cell enteropathyEnrichmentAURKB, AXL, CUL3, ERBB4, IGF1R, JAK3, PIK3CB, PTPRS3.07
30Myeloma, multipleEnrichmentBRAF, CCND1, CREBBP, CYLD, FGFR3, FLT3, H3C1, HDAC4, KMT2D, KRAS, LATS1, MST1R, NCOR2, NF1, PIK3R2, RXRA, SGK1, SH2B3, TCF3, TP53, YAP13.05
31Mosaic variegated aneuploidy syndromeEnrichmentBUB1, BUB1B, BUB1B-PAK6, BUB3, MAD1L1, PAK63.04
32Diffuse large b-cell lymphomaEnrichmentBRAF, BTK, CREBBP, FOXO1, MYD88, PTEN, SOCS1, STAT3, TBL1XR1, TP532.99
33Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG, STK10, STK112.91
34Inflammatory myofibroblastic tumorEnrichmentALK, CLTC, RANBP2, TPM3, TPM42.91
35Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, FZD2, ROR2, WNT5A2.91
36Adrenocortical carcinomaEnrichmentCTNNB1, PRKAR1A, TERT, TP53, ZNRF32.91
37Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR3, KRAS, PIK3CA2.91
38Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A2, TGFBR12.91
39Differentiated thyroid carcinomaEnrichmentALK, BRAF, HRAS, KRAS, LPAR4, NRAS, NTRK1, NTRK3, PPARG, RET, TERT, TRIM27, TRIM332.89
40Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K22.89
41Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, FZD2, WNT5A2.89
42Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R2, RIT12.89
43Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC22.89
44Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K22.89
45Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC42, PTPN11, YWHAZ2.89
46Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, FZD2, WNT5A2.89
47Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentCBFB, FLT3, KIT, MYH112.89
48Primary hyperparathyroidismEnrichmentCASR, CDKN1B, MEN1, PTH2.89
49Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC22.89
50GliomaEnrichmentFGFR2, NTRK3, PTEN, VPS352.89
51Pseudomyogenic hemangioendotheliomaEnrichmentACTB, FOSB, SERPINE1, WWTR12.89
52Hypogonadotropic hypogonadismEnrichmentANOS1, FGFR1, GNRHR, KISS1R, PROKR2, TACR32.64
53Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, CLTC, CSNK2B, DLL1, DOCK8, DYNC1H1, ERBB4, GABBR1, GNB1, GRIN1, GRIN2B, ITSN1, NBEA, PPP3CA, TAOK1, TCF4, YWHAZ2.47
54Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA2.44
55Multiple endocrine neoplasia, type iEnrichmentCDC73, CDKN1A, CDKN1B, CDKN2B, MEN12.44
56Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS, PTEN, SRGAP12.44
57Intervertebral disc diseaseEnrichmentCILP, COL11A1, COL9A2, COL9A3, THBS22.44
58Leukemia, chronic myeloidEnrichmentABL1, BCR, KRAS, NRAS, RUNX12.44
59Adams-oliver syndromeEnrichmentARHGAP31, DLL4, DOCK6, NOTCH1, RBPJ2.44
60Cranioectodermal dysplasiaEnrichmentIFT122, IFT140, IFT52, WDR19, WDR352.44
61Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS, PTEN, SRGAP12.44
62B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, BCR, FLT3, IKZF1, TP532.44
63Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL17RD, IL6, KRAS, LEMD3, PREX2, SCUBE2, ZFYVE162.34
64Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, SMAD3, TGFB2, TGFBR2, THBS22.34
65Marfan syndromeEnrichmentCOL2A1, FBN1, LTBP2, TGFB2, TGFBR1, TGFBR22.32
66Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, ITGA2B, ITGB3, TPM4, TUBA8, TUBB12.32
67Capillary malformations, congenitalEnrichmentGNA11, GNAQ, PIK3CA, RASA12.26
68Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK3, RAG1, RAG2, SALL42.26
69Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B, BUB1B-PAK6, MAD1L1, PAK62.26
70Robinow syndrome, autosomal dominant 2EnrichmentCHN1, DVL1, DVL3, FZD22.26
71Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR32.17
72Mccune-albright syndromeEnrichmentCOL2A1, FBN1, GNAS2.17
73Thyroid carcinoma, familial medullaryEnrichmentESR2, NTRK1, RET2.17
74Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, GALNT3, KL2.17
75Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS2.17
76Osteoporosis, juvenileEnrichmentDKK1, WNT1, WNT3A2.17
77Alzheimer disease 4EnrichmentAPOE, PSEN1, PSEN22.17
78Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3CA, PIK3R12.17
79Dysfibrinogenemia, congenitalEnrichmentFGA, FGB, FGG2.17
80Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C92.17
81Tethered spinal cord syndromeEnrichmentAMOTL1, BRAF, CREBBP2.17
82Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT32.17
83Autosomal recessive cutis laxa type ii classic typeEnrichmentATP6V0A2, ATP6V1A, ATP6V1E12.17
84Multiple epiphyseal dysplasia due to collagen 9 anomalyEnrichmentCOL9A1, COL9A2, COL9A32.17
85Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR22.17
86HamartomaEnrichmentFGFR3, TSC1, TSC22.17
87Testicular germ cell cancerEnrichmentFGFR3, KIT, STK112.17
88Familial dysfibrinogenemiaEnrichmentFGA, FGB, FGG2.17
89Parathyroid adenomaEnrichmentCASR, CDC73, MEN12.17
90Collagen vi-related dystrophiesEnrichmentCOL6A1, COL6A2, COL6A32.17
91Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB32.17
92Tricuspid valve insufficiencyEnrichmentMYH11, NDE1, PTPN112.17
93Familial hypofibrinogenemiaEnrichmentFGA, FGB, FGG2.17
94Intermediate collagen vi-related muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A32.17
95Anastomosing haemangiomaEnrichmentGNA11, GNA14, GNAQ2.17
96KeratoacanthomaEnrichmentNOTCH1, NOTCH2, PIK3CA2.17
97Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A52.17
98Genetic steroid-resistant nephrotic syndromeEnrichmentANKFY1, ANLN, ARHGAP24, ARHGDIA, COL4A3, LAMA5, NUP107, NUP133, NUP160, NUP37, NUP85, PTPRO, TRPC62.17
99Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF12.09
100Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A1, FGG, GNAS, OFD1, TCF42.09
101Short-rib thoracic dysplasia 12EnrichmentDYNC2H1, EVC2, IFT122, TTC21B, WDR192.09
102Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentANOS1, FGFR1, GNRHR, KISS1R, PROKR2, TAC3, TACR32.07
103OsteoporosisEnrichmentCALCR, COL1A1, COL1A2, LRP5, OFD1, SRC, WNT12.07
104Aortic aneurysm, familial thoracic 1EnrichmentCOL3A1, FBN1, MYH11, MYLK, NOTCH1, SMAD3, SMAD62.07
105Lung cancer susceptibility 3EnrichmentACTA2, BRAF, EGFR, ERBB2, FGF10, KRAS, TP532.07
106Heritable pulmonary arterial hypertensionEnrichmentACVRL1, BMPR2, CAV1, GDF2, SMAD9, SOX172.05
107Cerebral palsyEnrichmentADD3, ALDH3A2, ARHGAP31, COL4A1, COL4A2, F2, GNB1, GRIN2B, KIDINS220, MFN2, PDGFRB, SMARCA4, TUBA1A, TUBB4A2.02
108ThrombocytopeniaEnrichmentACTN1, ACVRL1, ANKRD26, FGG, ITGA2B, ITGB3, MECOM, MYH9, P2RY12, PTPN11, RUNX1, SMAD4, SRC, TUBB1, VWF, WAS1.89
109Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A21.86
110Melanoma, uvealEnrichmentCYSLTR2, GNA11, GNAQ, PLCB41.86
111Hemangioma, capillary infantileEnrichmentFLT4, KDR, MYH9, RASA11.86
112KeratoconusEnrichmentCOL1A1, COL4A1, COL5A2, TSC11.86
113Lipid metabolism disorderEnrichmentABCG5, ABCG8, APOE, CETP1.86
114Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, TP531.86
115Hepatocellular carcinomaEnrichmentAPC, AXIN1, CASP8, CTNNB1, MET, PIK3CA, RET, TERT, TP531.85
116Short-rib thoracic dysplasia 6 with or without polydactylyEnrichmentDYNC2H1, EVC, EVC2, FUZ, IFT172, TTC21B1.83
117Juvenile myelomonocytic leukemiaEnrichmentARHGAP26, CBL, KRAS, NF1, NRAS, PTPN111.83
118Ellis-van creveld syndromeEnrichmentEVC, EVC2, GLI1, PRKACA, PRKACB1.81
119Coronary heart disease 5EnrichmentABCA1, ABCG5, ABCG8, IKBKG, KALRN1.81
120Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA, RASA1, TEK1.81
121Chronic granulomatous diseaseEnrichmentCYBA, CYBB, NCF1, NCF2, NCF41.81
122Primary hyperaldosteronismEnrichmentBRAF, GNAS, NR3C1, TP53, USP81.81
123Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A1, FBN1, MYH11, MYLK, SMAD31.81
124Renal agenesis, bilateralEnrichmentFGF20, GFRA1, ITGA8, RET, WNT9B1.81
125RhabdomyosarcomaEnrichmentALK, CBL, HRAS, NF1, PTCH1, PTEN, TP531.70
126GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA, PPARG, TACC3, TP531.70
127Erythrocytosis, familial, 1EnrichmentEPOR, JAK2, SH2B31.63
128Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS1.63
129Afibrinogenemia, congenitalEnrichmentFGA, FGB, FGG1.63
130Auriculocondylar syndrome 1EnrichmentEDN1, GNAI3, PLCB41.63
131Chromosome 22q11.2 deletion syndrome, distalEnrichmentBCR, CRKL, MAPK11.63
132Leptin deficiency or dysfunctionEnrichmentLEP, LEPR, PPARG1.63
133Congenital generalized lipodystrophyEnrichmentCAVIN1, FOS, PPARG1.63
134Dowling-degos diseaseEnrichmentPOFUT1, POGLUT1, PSENEN1.63
135Lung sarcomatoid carcinomaEnrichmentKRAS, TERT, TP531.63
136Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS1.63
137TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B1.63
138Aortic aneurysmEnrichmentFBN1, SMAD3, TGFBR11.63
139CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB11.63
140Noonan syndrome with multiple lentiginesEnrichmentBRAF, PTPN11, RAF11.63
141Autosomal recessive stickler syndromeEnrichmentCOL9A1, COL9A2, COL9A31.63
142Mitral valve insufficiencyEnrichmentFBN1, MYH11, NDE11.63
143Genetic central precocious puberty in maleEnrichmentDLK1, KISS1, KISS1R1.63
144Bethlem muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A31.63
145Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK1, KIF7, SOS21.63
146Acute promyelocytic leukemiaEnrichmentPML, PRKAR1A, RARA, STAT3, STAT5B, TBL1XR11.63
147CraniosynostosisEnrichmentCTNNA1, FGFR2, FGFR3, GLI2, GLI3, GRIN2B, SMAD6, TCF121.62
148Stroke, ischemicEnrichmentF2, FBN1, NOS3, NOTCH3, PRKCH1.58
149Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA, RASA1, TEK1.58
150Stickler syndromeEnrichmentCOL11A1, COL2A1, COL9A1, COL9A2, COL9A31.58
151MelanomaEnrichmentBRAF, FBN1, MC1R, PTEN, STK111.58
152Cranioectodermal dysplasia 1EnrichmentIFT122, IFT140, WDR19, WDR351.56
153Waardenburg syndrome, type 2eEnrichmentEDNRB, KITLG, POLR2F, SNAI21.56
154Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA, RASA11.56
155Hereditary hemorrhagic telangiectasiaEnrichmentACVRL1, GDF2, RASA1, SMAD41.56
156Overgrowth syndromeEnrichmentCHD8, MTOR, PIK3R1, PTCH11.56
157Lung cancerEnrichmentACTA2, ALK, BRAF, CASP8, EGFR, ERBB2, KMT2D, KRAS, MET, PIK3CA, PPP2R1B1.54
158Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA, PPARG, TACC3, TP531.54
159MicrocephalyEnrichmentABL1, ACTB, ACTG1, ANKLE2, ATP6V0A1, CAMK2B, COL4A1, CTNNB1, DIAPH1, DYNC1H1, EP300, GNAO1, GNB1, GRIN2B, GRM7, HDAC8, IGF1R, KMT2D, MAPK1, MFN2, NUF2, PAK3, PSMC3, PTPN11, SMC1A, SYNGAP1, TCF4, TRIO, TUBB4A, WDR11, WDR81, YWHAG1.48
160Jeune thoracic dystrophyEnrichmentDYNC2H1, EVC2, GRK2, IFT140, LBR, SPTAN1, TTC21B, WDR19, WDR351.47
161MedulloblastomaEnrichmentAPC, CTNNB1, GPR161, PTCH1, PTCH2, SUFU1.46
162Pituitary stalk interruption syndromeEnrichmentCDON, DNMT1, GPR161, KISS1R, PROKR2, WDR111.46
163Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentABCG5, DYNC2H1, EVC2, GRK2, IFT140, IFT172, LBR, SPTAN1, TTC21B, WDR19, WDR351.45
164Acromicric dysplasiaEnrichmentFBN1, LTBP31.44
165Aortic aneurysm, familial thoracic 4EnrichmentMYH11, NDE11.44
166Fibromatosis, gingival, 1EnrichmentREST, SOS11.44
167Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN11.44
168Van buchem diseaseEnrichmentLRP5, SOST1.44
169Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN11.44
170Pituitary adenoma 4, acth-secretingEnrichmentGNAI2, USP81.44
171Hemangiopericytoma, malignantEnrichmentNAB2, STAT61.44
172Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB3, FLNA1.44
173Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL11A2, COL2A11.44
174Pyropoikilocytosis, hereditaryEnrichmentSPTA1, SPTB1.44
175Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN1, ZDHHC91.44
176Neutropenia, severe congenital, x-linkedEnrichmentELANE, WAS1.44
177Osteopathia striata with cranial sclerosisEnrichmentAMER1, CTNNB11.44
178Alzheimer disease 3EnrichmentAPOE, PSEN11.44
179Dermatofibrosarcoma protuberansEnrichmentCOL1A1, PDGFB1.44
180Blue cone monochromacyEnrichmentOPN1LW, OPN1MW1.44
181Cervical cancerEnrichmentFGFR3, TP531.44
182Wiskott-aldrich syndromeEnrichmentWAS, WIPF11.44
183Immunodeficiency 33EnrichmentIKBKG, IRAK41.44
184Pulmonic stenosisEnrichmentBRAF, SOS11.44
185Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR21.44
186Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A1.44
187Hyperparathyroidism 1EnrichmentCDC73, MEN11.44
188Piebald traitEnrichmentKIT, SNAI21.44
189Welander distal myopathyEnrichmentSQSTM1, TIA11.44
190Spastic paraplegia, optic atrophy, and neuropathyEnrichmentFLRT1, KLC21.44
191LymphangioleiomyomatosisEnrichmentTSC1, TSC21.44
192Gallbladder disease 4EnrichmentABCG5, ABCG81.44
193Keratosis, seborrheicEnrichmentFGFR3, PIK3CA1.44
194Pfeiffer syndromeEnrichmentFGFR1, FGFR21.44
195Jackson-weiss syndromeEnrichmentFGFR1, FGFR21.44
196Lissencephaly 1EnrichmentLAMB1, PAFAH1B11.44
197Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS1.44
198Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS1.44
199Chudley-mccullough syndromeEnrichmentGPSM2, SPTB1.44
200Robinow syndrome, autosomal dominant 3EnrichmentDVL3, FZD21.44
201Angioma, tuftedEnrichmentGNA14, KDR1.44
202Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL11A2, COL2A11.44
203Noonan syndrome 8EnrichmentPIK3CA, RIT11.44
204Syndactyly, type iiiEnrichmentGJA1, HDAC81.44
205Spastic paraplegia, intellectual disability, nystagmus, and obesityEnrichmentGFAP, KIDINS2201.44
206Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH11, NDE11.44
207Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP1, NCKAP1L1.44
208Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C31.44
209Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C111.44
210Diamond-blackfan anemia-likeEnrichmentEPO, IKZF11.44
211Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC1, RARB1.44
21246,xy sex reversal 1EnrichmentAR, SRY1.44
213Nephrotic syndrome, type 17EnrichmentGGA3, NUP851.44
214Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A21.44
215Infantile myofibromatosisEnrichmentNOTCH3, PDGFRB1.44
216FibrochondrogenesisEnrichmentCOL11A1, COL11A21.44
217Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET1.44
218Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB, SHOC21.44
219Aortic dissectionEnrichmentCOL3A1, FBN11.44
220Split hand-foot malformationEnrichmentFGFR2, LEF11.44
221Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA1.44
222Autosomal dominant hypocalcemiaEnrichmentCASR, GNA111.44
223Central precocious pubertyEnrichmentDLK1, KISS1R1.44
224Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A, TBK11.44
225AcrodysostosisEnrichmentPDE4D, PRKAR1A1.44
226PseudohypoparathyroidismEnrichmentGNAS, PTH1R1.44
227Congenital fibrosarcomaEnrichmentSUFU, TP531.44
228Stickler syndrome, type iiEnrichmentCOL11A1, COL1A11.44
229Body mass index quantitative trait locus 19EnrichmentADCY3, CENPO1.44
230Hypobetalipoproteinemia, familial, 2EnrichmentANGPTL3, DOCK71.44
231Medullary thyroid carcinomaEnrichmentMEN1, RET1.44
232Fibrolamellar carcinomaEnrichmentDNAJB1, PRKACA1.44
233Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA1.44
234Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB31.44
235Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M1, PIP5K1A1.44
236Developmental and epileptic encephalopathy 23EnrichmentANGPTL3, DOCK71.44
237Cervix carcinomaEnrichmentFGFR3, TP531.44
238Immune system diseaseEnrichmentCDC42, PIK3CD1.44
239Visceral myopathy 2EnrichmentMYH11, NDE11.44
240InsulinomaEnrichmentMEN1, YY11.44
241B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA3, PIP4K2A1.44
242Paget's disease of boneEnrichmentDOCK6, SQSTM11.44
243Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG11.44
244Short-rib thoracic dysplasia 7 with or without polydactylyEnrichmentINTU, WDR351.44
245Craniosynostosis 7EnrichmentBMP2, SMAD61.44
246Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B1.44
247Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPDE11A, PRKAR1A1.44
248Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A21.44
249Radioulnar synostosisEnrichmentMECOM, SMAD61.44
250B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentPBX1, TCF31.44
251Postaxial polydactyly type bEnrichmentGLI1, GLI31.44
252Autosomal dominant nonsyndromic deafnessEnrichmentFGFR2, GATA31.44
253Posterior hypospadiasEnrichmentAR, MAMLD11.44
254X-linked cone dysfunction syndrome with myopiaEnrichmentOPN1LW, OPN1MW1.44
255Immunodeficiency 72EnrichmentNCKAP1, NCKAP1L1.44
256Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD881.44
257Juvenile polyposis of infancyEnrichmentBMPR1A, PTEN1.44
258Pleomorphic rhabdomyosarcomaEnrichmentNF1, TP531.44
259Tafro syndromeEnrichmentMAP2K2, RUNX11.44
260Oculootodental syndromeEnrichmentFADD, FGF31.44
261Malignant peritoneal mesotheliomaEnrichmentLATS1, LATS21.44
262Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ1.44
263Isolated micronodular adrenocortical diseaseEnrichmentPDE11A, PDE8B1.44
264Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM1, VCP1.44
265Heart, malformation ofEnrichmentCDK8, COL11A2, COL2A1, DYNC2H1, JAG1, MAPK1, SMAD61.40
26646,xy complete gonadal dysgenesisEnrichmentAR, CBX2, DHH, SOX9, SRY1.39
267Tooth agenesisEnrichmentAXIN2, FGFR1, GREM2, LRP6, RANBP2, TGFA, WNT10A, WNT10B1.37
268Glioma susceptibility 1EnrichmentERBB2, H3-3A, H3C1, TP531.33
269Isolated split hand-split foot malformationEnrichmentBTRC, EPS15L1, SEM1, WNT10B1.33
270Polydactyly, postaxial, type a1EnrichmentATP6V1B1, EP300, GLI1, GLI3, IQCE, PTCH11.31
271MyopiaEnrichmentCOL11A1, COL2A1, COL4A4, FBN1, MYH11, NDE11.31
272Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB2, NPHP4, TSC11.31
273Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A51.30
274Retinal detachmentEnrichmentCOL2A1, COL9A3, RHO1.30
275Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP51.30
276Martsolf syndrome 1EnrichmentANOS1, ARHGAP35, ARHGAP51.30
277Ullrich congenital muscular dystrophy 1aEnrichmentCOL6A1, COL6A2, COL6A31.30
278Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentANOS1, POLR2F, PROKR21.30
279Short-rib thoracic dysplasia 9 with or without polydactylyEnrichmentIFT140, IFT172, WDR191.30
280Rhabdomyosarcoma 2EnrichmentFOXO1, NF1, TP531.30
281Cholangitis, primary sclerosingEnrichmentGPR35, MST1, TCF41.30
282LymphomaEnrichmentKMT2D, PTPN11, TP531.30
283Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A51.30
284Histiocytoid hemangiomaEnrichmentFOS, FOSB, VIM1.30
285Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSOX3, SOX9, SRY1.30
286Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A51.30
287Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT, RUNX11.30
288Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB1.30
289Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A, SMAD4, STK111.30
290Inherited cancer-predisposing syndromeEnrichmentALK, APC, AXIN2, BMPR1A, CDC73, CDK4, CDKN1B, CTNNA1, CYLD, EGFR, EZH2, KIT, MECOM, MEN1, MET, NF1, NF2, PDGFRA, PRKAR1A, PTCH1, PTEN, PTPN11, RET, RUNX1, SH2B3, SMAD4, SMARCA4, STK11, SUFU, TP53, TSC1, TSC2, VHL1.29
291Septooptic dysplasiaEnrichmentFGFR1, PROKR2, SHH, SOX2, SOX31.23
292Asphyxiating thoracic dystrophyEnrichmentDYNC2H1, EVC2, GRK2, IFT140, LBR, SPTAN1, TTC21B, WDR19, WDR351.17
293Cornelia de lange syndrome 1EnrichmentHDAC8, RAD21, SMC1A, SMC31.14
294Congenital central hypoventilation syndromeEnrichmentBDNF, EDN3, GDNF, RET1.14
295Ventricular septal defectEnrichmentBRAF, RPS6KA3, SMARCA4, TEK1.14
296Cornelia de lange syndromeEnrichmentHDAC8, RAD21, SMC1A, SMC31.14
297Microphthalmia/coloboma 12EnrichmentCDON, FZD5, MYH10, RARB, YAP11.09
298Hypertension, essentialEnrichmentAGT, AGTR1, ECE1, GNB3, NOS3, RGS51.07
299Melanoma, cutaneous malignant 1EnrichmentBRAF, CDK4, CDKN2B, MC1R, STK11, TERT1.07
300Cleft palate, isolatedEnrichmentAMER1, COL11A1, FLNA, GNB1, MYO19, SMARCA41.07
301LissencephalyEnrichmentACTG1, DYNC1H1, PAFAH1B1, TUBA1A, TUBA3E, TUBB2B, TUBB31.07
302Developmental dysplasia of the hip 1EnrichmentCOL2A1, PSMC3, TRIM331.06
303Klippel-trenaunay-weber syndromeEnrichmentGNAQ, PIK3CA, RASA11.06
304Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A2, P4HB1.06
305Myopathy, centronuclear, 1EnrichmentDNM2, MYF6, MYOD11.06
306Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN1.06
307Basal cell nevus syndrome 1EnrichmentPTCH1, PTCH2, SUFU1.06
308Renal tubular acidosis, distal, 1EnrichmentATP6V0A4, ATP6V1B1, ATP6V1C21.06
309Weyers acrofacial dysostosisEnrichmentCTNNB1, EVC, EVC21.06
310Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL1, PSEN1, RASA11.06
311Epidermolysis bullosa, junctional 1a, intermediateEnrichmentLAMA3, LAMB3, LAMC21.06
312Hemihyperplasia, isolatedEnrichmentIGF2, PIK3CA, RHOA1.06
313Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC21.06
314Waardenburg syndrome, type 4aEnrichmentEDN3, EDNRB, POLR2F1.06
315Basal cell carcinoma 1EnrichmentPTCH1, PTCH2, RASA11.06
316Junctional epidermolysis bullosa non-herlitz typeEnrichmentLAMA3, LAMB3, LAMC21.06
317Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB31.06
318Patent ductus arteriosusEnrichmentFLNA, PSMC3, PTPN111.06
319Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB31.06
32046,xy disorder of sex developmentEnrichmentFGFR3, INSR, SRY1.06
321Distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B1, ATP6V1C21.06
322Childhood absence epilepsyEnrichmentGABRA1, GABRB3, GABRG21.06
323Short rib-polydactyly syndromeEnrichmentDYNC2H1, IFT52, WDR351.06
324Sporadic pheochromocytoma/secreting paragangliomaEnrichmentEPAS1, RET, VHL1.06
325InfertilityEnrichmentGNRHR, NPHP4, TAC31.06
326Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, ATP6V0A1, CDK8, CSNK2A1, CUL3, DLG4, DOCK3, GNB2, GRIN2B, H4C3, H4C5, H4C9, HNRNPC, KDM4B, MADD, MYH10, PAK3, PLXNA1, PPP2CA, PSMD12, RAC3, RALA, RNF2, SPTBN1, SYNGAP1, TCF7L2, TIAM1, TNRC6B, WASF11.06
327Brachydactyly, type a1EnrichmentBMPR1B, IHH1.03
328Crouzon syndromeEnrichmentFGFR2, FGFR31.03
329Desmoid disease, hereditaryEnrichmentAPC, CTNNB11.03
330Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB3, STAT31.03
331Prune belly syndromeEnrichmentCHRM3, FLNA1.03
332AchondroplasiaEnrichmentFBN1, FGFR31.03
333Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH9, TUBB11.03
334Prognathism, mandibularEnrichmentCSNK2B, ERLEC11.03
335Brachydactyly, type e1EnrichmentPTH1R, PTHLH1.03
336Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR1, PROKR21.03
337Alagille syndrome 1EnrichmentFAM13A, JAG11.03
338Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A41.03
339Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP1, COL2A11.03
340Juvenile polyposis syndromeEnrichmentBMPR1A, SMAD41.03
341Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB31.03
342Neutropenia, severe congenital, 1, autosomal dominantEnrichmentELANE, TCIRG11.03
343MegalocorneaEnrichmentCHRDL1, COL11A11.03
344Combined cellular and humoral immune defects with granulomasEnrichmentRAG1, RAG21.03
345Acrocallosal syndromeEnrichmentGLI3, KIF71.03
346TelecanthusEnrichmentCOL11A1, COL5A21.03
347Tuberous sclerosis 1EnrichmentTSC1, TSC21.03
348Periventricular nodular heterotopia 1EnrichmentFLNA, VWF1.03
349Aarskog-scott syndromeEnrichmentFGD1, GLI31.03
350Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF1, NCF21.03
351Weaver syndromeEnrichmentEZH2, SUZ121.03
35246,xx sex reversal 1EnrichmentSOX9, SRY1.03
353Nuchal bleb, familialEnrichmentCFTR, SOS11.03
354Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP14, MMP21.03
355Renal tubular acidosis, distal, 3, with or without sensorineural hearing lossEnrichmentATP6V0A4, ATP6V1B11.03
356Transposition of the great arteries, dextro-loopedEnrichmentACVR1B, BMP21.03
357Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A21.03
358Hypercholanemia, familial 1EnrichmentDOCK6, TJP21.03
359Nasopharyngeal carcinomaEnrichmentNFKBIA, TP531.03
360Estrogen resistanceEnrichmentESR1, TMEM591.03
361Adams-oliver syndrome 1EnrichmentARHGAP31, DOCK61.03
362Chromosome 8p11 myeloproliferative syndromeEnrichmentBCR, FGFR11.03
363Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentATP6V1B2, ATP6V1C11.03
364Sitosterolemia 1EnrichmentABCG5, ABCG81.03
365Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R11.03
366Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B1, YWHAE1.03
367Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B1, YWHAE1.03
368Pilarowski-bjornsson syndromeEnrichmentCHD1, COL4A31.03
369Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C51.03
370Weill-marchesani syndrome 1EnrichmentFBN1, LTBP21.03
371Primary polycythemiaEnrichmentEPOR, VHL1.03
372Large congenital melanocytic nevusEnrichmentHRAS, NRAS1.03
373Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA1, VCP1.03
374Desmoid tumorEnrichmentAPC, CTNNB11.03
375High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC1.03
376SitosterolemiaEnrichmentABCG5, ABCG81.03
377Dedifferentiated liposarcomaEnrichmentCDK4, MDM21.03
378Familial isolated hypoparathyroidismEnrichmentCASR, PTH1.03
379Precocious puberty, central, 2EnrichmentDLK1, KISS1R1.03
380Frontometaphyseal dysplasiaEnrichmentFLNA, MAP3K71.03
381Immunodeficiency 14EnrichmentPIK3CD, PIK3R11.03
382Squamous cell carcinomaEnrichmentFAM13A, TP531.03
383Cellular ependymomaEnrichmentMEN1, NF21.03
384Tanycytic ependymomaEnrichmentMEN1, NF21.03
385Papillary ependymomaEnrichmentMEN1, NF21.03
386Duane retraction syndromeEnrichmentCHN1, SALL41.03
387Migraine without auraEnrichmentESR1, NOTCH31.03
388Microcephaly 17, primary, autosomal recessiveEnrichmentCIT, RHO1.03
389SpermatocytomaEnrichmentFGFR3, HRAS1.03
390Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS, KDM1A1.03
391Tetraamelia syndromeEnrichmentRSPO2, WNT31.03
392Familial isolated hyperparathyroidismEnrichmentCDC73, MEN11.03
393High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A21.03
394Neonatal inflammatory skin and bowel diseaseEnrichmentADAM17, EGFR1.03
395Melanoma of soft tissueEnrichmentATF1, CREB11.03
396Well-differentiated liposarcomaEnrichmentCDK4, MDM21.03
397Clear cell ependymomaEnrichmentMEN1, NF21.03
398Geleophysic dysplasiaEnrichmentFBN1, LTBP31.03
399Testicular cancerEnrichmentFGFR3, STK111.03
400Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR2, SMAD91.03
401Hyperpigmentation of the skinEnrichmentMFN2, USP9X1.03
402Apc-associated polyposis conditionsEnrichmentAPC, STK111.03
403Undetermined early-onset epileptic encephalopathyEnrichmentATP6V1A, CLTC, CNKSR2, CYFIP2, DNM1, GABBR2, GABRB2, GABRG2, GRIN2D, LIMK1, NTRK2, PPP3CA, TRAK1, WWOX, YWHAG1.02
404Gastric cancerEnrichmentAPC, CASP10, CDK4, ERBB2, FGFR2, KRAS, NF1, PIK3CA, PTEN, SMAD4, STK11, TP531.00
405PolymicrogyriaEnrichmentAKT3, DYNC1H1, OFD1, PSMC30.99
406Primary bone dysplasiaEnrichmentCOL1A1, COL1A2, DYNC2H1, FGFR30.99
407Breast cancerEnrichmentABCA1, AKT1, APC, CASP8, CDC73, CDKN2B, ESR1, GNG3, IL2, JUN, KLC1, KRAS, PHB1, PIK3CA, PTCH2, PTEN, RET, SHC1, TP530.98
408Multiple sclerosisEnrichmentDST, ITPR1, LAMA5, LAMB1, NR1H30.96
409Cleft lip/palateEnrichmentAMOTL1, ARHGAP29, ARHGEF38, DLG1, PDGFRA0.96
410West syndromeEnrichmentCSNK1E, DNM1, GNAO1, GRIN1, GRIN2B, NTRK2, PLCB1, RALGAPA1, SPTAN1, TSC2, TUBA1A, WWOX0.94
411Esophageal cancerEnrichmentTGFBR2, TP53, WWOX0.88
412Bethlem myopathy 1aEnrichmentCOL6A1, COL6A2, COL6A30.88
413Oculopharyngodistal myopathy 1EnrichmentABCD3, GIPC1, NOTCH2NLC0.88
414MyelofibrosisEnrichmentJAK2, SH2B3, SRC0.88
415Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP530.88
416Gastrointestinal stromal tumorEnrichmentKIT, MEN1, PDGFRA0.88
417Renal cell carcinoma, papillary, 1EnrichmentMET, MTOR, VHL0.88
418Multiple enchondromatosis, maffucci typeEnrichmentCOL2A1, HIF1A, VHL0.88
419Essential thrombocythemiaEnrichmentJAK2, SH2B3, TP530.88
420Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, PTPN20.88
421Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP, PSEN1, PSEN20.88
422Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, PTPN20.88
423Ovarian cancerEnrichmentAKT1, ALK, APC, AR, AXIN2, BMPR1A, BUB1B, CDKN1B, CTNNB1, EGFR, ERBB2, KIT, KRAS, MET, NTRK1, PDGFRA, PIK3CA, PTCH1, PTEN, RET, RRAS2, TP53, TSC2, TSHR0.87
424Coloboma of maculaEnrichmentCDON, FZD5, MYH10, RARB, YAP10.86
425Rare genetic intellectual disabilityEnrichmentCHD8, CREBBP, EP300, GNAO1, MTOR0.86
426Body mass index quantitative trait locus 11EnrichmentADCY3, ADRB3, BDNF, CENPO, GHRL, GNAS, LEPR, MC3R, MC4R, MYH9, NUDC, POMC, PPARG0.86
427Pectus excavatumEnrichmentFBN1, PTPN11, SHOC2, TGFBR10.86
428Immune deficiency diseaseEnrichmentIKZF1, RAG2, RIPK1, SYK0.86
429Meningioma, familialEnrichmentNF2, PDGFB, PTEN, SUFU0.86
430Combined immunodeficiencyEnrichmentARPC1B, IL2RG, TFRC, ZAP700.86
431OsteochondrodysplasiaEnrichmentCOL1A1, COL1A2, DYNC2H1, FGFR30.86
432Combined t cell and b cell immunodeficiencyEnrichmentARPC1B, IL2RG, TFRC, ZAP700.86
433Specific learning disabilityEnrichmentMAPK1, PTPN11, RPS6KA3, YWHAG0.86
434Combined t and b cell immunodeficiencyEnrichmentARPC1B, IL2RG, TFRC, ZAP700.86
435ScoliosisEnrichmentCOL2A1, CREBBP, FBN1, GFAP, GRIN2B, MYF5, PTPN110.81
436Macs syndromeEnrichmentALDH1A3, PORCN, PTCH1, SHH, SOX2, WNT7B0.79
437Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A20.78
438Trichorhinophalangeal syndrome, type iiEnrichmentRAD21, STMN20.78
439Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A20.78
440Brachydactyly, type a2EnrichmentBMP2, BMPR1B0.78
441Polydactyly, preaxial iiEnrichmentPTCH1, SHH0.78
442Diffuse gastric and lobular breast cancer syndromeEnrichmentCTNNA1, KRAS0.78
443Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDLG4, DVL20.78
444Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP2, WNT10A0.78
445Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A40.78
446Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYH11, MYLK0.78
447Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentPDHA1, PDHX0.78
448SchizencephalyEnrichmentCOL4A1, SHH0.78
449Granulomatous disease, chronic, x-linkedEnrichmentCYBB, NCF10.78
450Sacral defect with anterior meningoceleEnrichmentFUZ, VANGL10.78
451Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP530.78
452Autoimmune lymphoproliferative syndromeEnrichmentACTA2, CASP100.78
453Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF10.78
454Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK0.78
455Persistent mullerian duct syndrome, types i and iiEnrichmentAMH, AMHR20.78
456Orofaciodigital syndrome iiiEnrichmentIFT140, OFD10.78
457Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R20.78
458Saethre-chotzen syndromeEnrichmentFGFR2, FGFR30.78
459Carney complex variantEnrichmentPDE11A, PRKAR1A0.78
460Achromatopsia 4EnrichmentGNAI3, GNAT20.78
461Multiple synostoses syndromeEnrichmentFGF9, NOG0.78
462SyndactylyEnrichmentCSNK2B, IQCE0.78
463Weill-marchesani syndromeEnrichmentFBN1, LTBP20.78
464Malignant epithelioid hemangioendotheliomaEnrichmentWWTR1, YAP10.78
465Orofacial cleftEnrichmentFST, LRP60.78
466Ectodermal dysplasiaEnrichmentRANBP2, WNT10A0.78
467Retinopathy of prematurityEnrichmentFZD4, LRP50.78
468Tuberous sclerosisEnrichmentTSC1, TSC20.78
469Cerebrovascular diseaseEnrichmentNOTCH3, PIK3CA0.78
470Embryonal rhabdomyosarcomaEnrichmentNF1, TP530.78
471Pilocytic astrocytomaEnrichmentKRAS, NF10.78
472Blood platelet diseaseEnrichmentANKRD26, RUNX10.78
473Hereditary elliptocytosisEnrichmentSPTA1, SPTB0.78
474Spastic quadriplegic cerebral palsyEnrichmentADD3, KANK10.78
475Newborn respiratory distress syndromeEnrichmentBRAF, DYNC2H10.78
476Persistent mullerian duct syndromeEnrichmentAMH, AMHR20.78
477Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A40.78
478Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A20.78
479Non-syndromic bicoronal craniosynostosisEnrichmentFGFR3, TCF120.78
480Pediatric systemic lupus erythematosusEnrichmentIRAK1, SPP10.78
481Haddad syndromeEnrichmentASCL1, RET0.78
482Benign ependymomaEnrichmentMEN1, NF20.78
483Orofacial clefting syndromeEnrichmentFST, LRP60.78
484Middle aortic syndromeEnrichmentJAG1, NF10.78
485Gingival fibromatosisEnrichmentREST, SOS10.78
486Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT1, KNG10.78
487Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, CENPP, COL11A1, COL11A2, DIAPH3, KITLG, MYH14, MYH9, MYO6, PDE1C, REST, TJP2, TRRAP0.76
488Cutis laxaEnrichmentATP6V0A2, ATP6V1E1, COL5A1, LTBP40.75
489Fanconi anemia, complementation group cEnrichmentFLNA, HDAC8, TAOK10.74
490Renal hypodysplasia/aplasia 1EnrichmentITGA8, RET, WNT9B0.74
491Lymphoma, non-hodgkin, familialEnrichmentBRAF, CASP10, TP530.74
492Orthostatic intoleranceEnrichmentCOL5A1, FBN1, RPS6KA30.74
493Lennox-gastaut syndromeEnrichmentDNM1, GABRB3, GABRG20.74
494Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP50.74
495Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM30.74
496NeuroblastomaEnrichmentALK, MYCN, SMARCA40.74
497Choreatic diseaseEnrichmentGNAO1, PDE2A, RHOBTB20.74
498Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA10.72
499Stickler syndrome, type iEnrichmentCOL2A10.72
500Holoprosencephaly 3EnrichmentSHH0.72
501Multiple endocrine neoplasia, type iibEnrichmentRET0.72
502Precocious puberty, central, 1EnrichmentKISS1R0.72
503Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR20.72
504Cole-carpenter syndrome 1EnrichmentP4HB0.72
505Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB10.72
506Pallister-hall syndromeEnrichmentGLI30.72
507Thiourea tastingEnrichmentTAS2R380.72
508Elliptocytosis 2EnrichmentSPTA10.72
509Brachydactyly, type b1EnrichmentROR20.72
510Erythroleukemia, familialEnrichmentERBB30.72
511HypochondroplasiaEnrichmentFGFR30.72
512Chiari malformation type iEnrichmentDKK10.72
513MacrodactylyEnrichmentPIK3CA0.72
514Proteus syndromeEnrichmentAKT10.72
515Beare-stevenson cutis gyrata syndromeEnrichmentFGFR20.72
516Vibratory urticariaEnrichmentADGRE20.72
517Paget disease, extramammaryEnrichmentERBB20.72
518Diabetes insipidus, neurohypophysealEnrichmentAVP0.72
519Hypertension and brachydactyly syndromeEnrichmentPDE3A0.72
520Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN10.72
521Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA110.72
522Osteoglophonic dysplasiaEnrichmentFGFR10.72
523MetachondromatosisEnrichmentPTPN110.72
524Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A0.72
525Cardiospondylocarpofacial syndromeEnrichmentMAP3K70.72
526Greig cephalopolysyndactyly syndromeEnrichmentGLI30.72
527Endosteal hyperostosis, autosomal dominantEnrichmentLRP50.72
528Buschke-ollendorff syndromeEnrichmentLEMD30.72
529Craniodiaphyseal dysplasia, autosomal dominantEnrichmentSOST0.72
530Nail disorder, nonsyndromic congenital, 1EnrichmentFZD60.72
531Cystic angiomatosis of bone, diffuseEnrichmentRASA10.72
532Deafness, congenital, with onychodystrophy, autosomal dominantEnrichmentATP6V1B20.72
533Paget disease of bone 3EnrichmentSQSTM10.72
534Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A10.72
535Mullerian aplasia and hyperandrogenismEnrichmentWNT40.72
536Thanatophoric dysplasia, type iEnrichmentFGFR30.72
537Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP20.72
538High molecular weight kininogen deficiencyEnrichmentKNG10.72
53946,xy sex reversal 7EnrichmentDHH0.72
540Trigonocephaly 1EnrichmentFGFR10.72
541Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT20.72
542Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A20.72
543Hypogonadotropic hypogonadism 3 with or without anosmiaEnrichmentPROKR20.72
544Donohue syndromeEnrichmentINSR0.72
545Hypoplastic left heart syndrome 1EnrichmentGJA10.72
546Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A10.72
547Granulomatous disease, chronic, autosomal recessive, 4EnrichmentCYBA0.72
548Stapes ankylosis with broad thumbs and toesEnrichmentNOG0.72
549Tarsal-carpal coalition syndromeEnrichmentNOG0.72
550Von willebrand disease, type 1EnrichmentVWF0.72
551Ramon syndromeEnrichmentELMO20.72
552Nystagmus 6, congenital, x-linkedEnrichmentGPR1430.72
553Intellectual developmental disorder, x-linked, syndromic, gustavson typeEnrichmentRBMX0.72
554Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC60.72
555Amyotrophic lateral sclerosis 2, juvenileEnrichmentALS20.72
556Baraitser-winter syndrome 1EnrichmentACTB0.72
557Hypothyroidism, congenital, nongoitrous, 9EnrichmentIRS40.72
558Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A0.72
559Metachromatic leukodystrophy due to saposin b deficiencyEnrichmentPSAP0.72
560Sea-blue histiocyte diseaseEnrichmentAPOE0.72
561Prostate cancer, hereditary, x-linked 3EnrichmentAR0.72
562Coffin-lowry syndromeEnrichmentRPS6KA30.72
563Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK10.72
564Thyrotropin-releasing hormone deficiencyEnrichmentTRH0.72
565Oculoectodermal syndromeEnrichmentKRAS0.72
566Muenke syndromeEnrichmentFGFR30.72
567Vacterl association with hydrocephalusEnrichmentPTEN0.72
568Thrombocytopenia 1EnrichmentWAS0.72
569Retinitis pigmentosa 23EnrichmentOFD10.72
570Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB30.72
571Intellectual developmental disorder, x-linked 30EnrichmentPAK30.72
572Pallister-killian syndromeEnrichmentARAF0.72
573Premature aging syndrome, penttinen typeEnrichmentPDGFRB0.72
574Panhypopituitarism, x-linkedEnrichmentSOX30.72
575Alport syndrome 1, x-linkedEnrichmentCOL4A50.72
576Androgen insensitivity, partialEnrichmentAR0.72
577Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA0.72
578Hypocalcemia, autosomal dominant 1EnrichmentCASR0.72
579Spermatogenic failure, x-linked, 9EnrichmentRBBP70.72
580Intellectual developmental disorder, x-linked 99EnrichmentUSP9X0.72
581Incontinentia pigmentiEnrichmentIKBKG0.72
582Bone mineral density quantitative trait locus 1EnrichmentLRP50.72
583Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S10.72
584Exudative vitreoretinopathy 4EnrichmentLRP50.72
585Simpson-golabi-behmel syndrome, type 2EnrichmentOFD10.72
586Type 1 diabetes mellitus 10EnrichmentIL2RA0.72
587Sclerosteosis 1EnrichmentSOST0.72
588Mcleod syndromeEnrichmentXK0.72
589Microphthalmia, syndromic 8EnrichmentSNX30.72
590Charcot-marie-tooth disease, x-linked dominant, 6EnrichmentPDK30.72
591Complement component 5 deficiencyEnrichmentC50.72
592Curry-jones syndromeEnrichmentSMO0.72
593Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X0.72
594Developmental and epileptic encephalopathy 8EnrichmentARHGEF90.72
595Deafness, autosomal recessive 53EnrichmentCOL11A20.72
596Body mass index quantitative trait locus 9EnrichmentMC3R0.72
597Spondylocostal dysostosis 3, autosomal recessiveEnrichmentLFNG0.72
598Nance-horan syndromeEnrichmentNHS0.72
599Colorblindness, partial, deutan seriesEnrichmentOPN1MW0.72
600Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A0.72
601Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR0.72
602Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR20.72
603Hyperlipidemia, familial combined, 1EnrichmentUSF10.72
604Focal dermal hypoplasiaEnrichmentPORCN0.72
605Immunodeficiency 34EnrichmentCYBB0.72
606Holoprosencephaly 13, x-linkedEnrichmentSTAG20.72
607Autoinflammatory disease, multisystem, with immune dysregulation, x-linkedEnrichmentDOCK110.72
608Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC30.72
609Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR20.72
610Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A10.72
611Oligodontia-colorectal cancer syndromeEnrichmentAXIN20.72
612Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR20.72
613Spinocerebellar ataxia 5EnrichmentSPTBN20.72
614Deafness, autosomal recessive 26EnrichmentGAB10.72
615Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG0.72
616Legius syndromeEnrichmentSPRED10.72
617Immunodeficiency 35EnrichmentTYK20.72
618Otopalatodigital syndrome, type iEnrichmentFLNA0.72
619Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP0.72
620Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA0.72
621Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A10.72
622Noonan syndrome 5EnrichmentRAF10.72
623Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR0.72
624Joubert syndrome 7EnrichmentRPGRIP1L0.72
625Immunodeficiency 61EnrichmentSH3KBP10.72
626Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL10.72
627Hypomagnesemia 4, renalEnrichmentEGF0.72
628Neuronal intranuclear inclusion diseaseEnrichmentNOTCH2NLC0.72
62946,xy sex reversal 5EnrichmentCBX20.72
630Czech dysplasiaEnrichmentCOL2A10.72
631Immunodeficiency 68EnrichmentMYD880.72
632Night blindness, congenital stationary, autosomal dominant 1EnrichmentRHO0.72
633Glaucoma 3, primary congenital, dEnrichmentLTBP20.72
634Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR0.72
635Congenital disorder of glycosylation, type iidEnrichmentB4GALT10.72
636Noonan syndrome 4EnrichmentSOS10.72
637Caspase 8 deficiencyEnrichmentCASP80.72
638Asthma-related traits 1EnrichmentPTGDR0.72
639Branchial cleft anomaliesEnrichmentKMT2D0.72
640Pseudohypoparathyroidism, type icEnrichmentGNAS0.72
641Lipodystrophy, congenital generalized, type 3EnrichmentCAV10.72
642Charcot-marie-tooth disease, demyelinating, type 1dEnrichmentEGR20.72
643Febrile seizures, familial, 8EnrichmentGABRG20.72
644Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA0.72
645Deafness, autosomal dominant 17EnrichmentMYH90.72
646Macular dystrophy, patterned, 2EnrichmentCTNNA10.72
64746,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT40.72
648Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC20.72
649Melanoma, cutaneous malignant 3EnrichmentCDK40.72
650Deafness, autosomal recessive 39EnrichmentHGF0.72
651Parathyroid carcinomaEnrichmentCDC730.72
652Mastocytosis, cutaneousEnrichmentKIT0.72
653Striatal degeneration, autosomal dominant 1EnrichmentPDE8B0.72
654Carney complex, type 1EnrichmentPRKAR1A0.72
655Deafness, autosomal dominant 51EnrichmentTJP20.72
656Schilbach-rott syndromeEnrichmentPTCH10.72
657Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN20.72
658Deafness, autosomal recessive 32, with or without immotile spermEnrichmentCDC14A0.72
659Polydactyly, preaxial ivEnrichmentGLI30.72
660Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR20.72
661Type 1 diabetes mellitus 21EnrichmentTAGAP0.72
662Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A0.72
663Spastic paralysis, infantile-onset ascendingEnrichmentALS20.72
664Acromesomelic dysplasia 3EnrichmentBMPR1B0.72
665Resting heart rate, variation inEnrichmentADRB10.72
666Intellectual developmental disorder, autosomal recessive 12EnrichmentST3GAL30.72
667Macroglobulinemia, waldenstrom 1EnrichmentMYD880.72
668Marshall syndromeEnrichmentCOL11A10.72
669Hypocalciuric hypercalcemia, familial, type iEnrichmentCASR0.72
670Blepharospasm, benign essentialEnrichmentDRD50.72
671Melorheostosis, isolatedEnrichmentMAP2K10.72
672Brachydactyly, type b2EnrichmentNOG0.72
673Megalencephaly, autosomal dominantEnrichmentPIK3CA0.72
674Oculodentodigital dysplasiaEnrichmentGJA10.72
675Kniest dysplasiaEnrichmentCOL2A10.72
676Osseous heteroplasia, progressiveEnrichmentGNAS0.72
677Prothrombin deficiency, congenitalEnrichmentF20.72
678Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP0.72
679Omodysplasia 2EnrichmentFZD20.72
680White blood cell count quantitative trait locus 1EnrichmentACKR10.72
681Noonan syndrome 7EnrichmentBRAF0.72
682Schwannomatosis, vestibularEnrichmentNF20.72
683Leopard syndrome 3EnrichmentBRAF0.72
684Apert syndromeEnrichmentFGFR20.72
685Hajdu-cheney syndromeEnrichmentNOTCH20.72
686Neuroblastoma 3EnrichmentALK0.72
687Alagille syndrome 2EnrichmentNOTCH20.72
688Cardiomyopathy, dilated, 1jjEnrichmentLAMA40.72
689Dermatitis, atopic, 4EnrichmentSOCS30.72
690Blood group--kell systemEnrichmentKEL0.72
691Breasts and/or nipples, aplasia or hypoplasia of, 1EnrichmentPTPRF0.72
692Deafness, autosomal dominant 22EnrichmentMYO60.72
693Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP10.72
694Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB0.72
695Hemolytic uremic syndrome, atypical 5EnrichmentC30.72
696Acne inversa, familial, 1EnrichmentNCSTN0.72
697Hydrolethalus syndrome 2EnrichmentKIF70.72
698Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC730.72
699Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG0.72
700Epilepsy, idiopathic generalized 13EnrichmentGABRA10.72
701Leopard syndrome 1EnrichmentPTPN110.72
702Memory quantitative trait locusEnrichmentWWC10.72
703Ivic syndromeEnrichmentSALL40.72
704Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A10.72
705Microphthalmia/coloboma 5EnrichmentSHH0.72
706Lipoprotein glomerulopathyEnrichmentAPOE0.72
707Mucoepithelial dysplasia, hereditaryEnrichmentSREBF10.72
708Polydactyly, preaxial iEnrichmentGLI10.72
709Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH10.72
710Polyglucosan body myopathy 1 with or without immunodeficiencyEnrichmentRBCK10.72
711Cardiomyopathy, dilated, 1nnEnrichmentRAF10.72
712Lateral meningocele syndromeEnrichmentNOTCH30.72
713Congenital myopathy 4b, autosomal recessiveEnrichmentTPM30.72
714Developmental and epileptic encephalopathy 5EnrichmentSPTAN10.72
715Multiple self-healing squamous epitheliomaEnrichmentTGFBR10.72
716Holoprosencephaly 4EnrichmentTGIF10.72
717Congenital myopathy 12EnrichmentCNTN10.72
718Cowden syndrome 5EnrichmentPIK3CA0.72
719Cardiac valvular dysplasia 1EnrichmentPLD10.72
720Von willebrand disease, type 2EnrichmentVWF0.72
721Parkinson disease 18, autosomal dominantEnrichmentEIF4G10.72
722Polycystic lung diseaseEnrichmentCCR20.72
723Focal segmental glomerulosclerosis 2EnrichmentTRPC60.72
724Cardiofaciocutaneous syndrome 3EnrichmentMAP2K10.72
725Mandibulofacial dysostosis with alopeciaEnrichmentEDNRA0.72
726Split-hand/foot malformation 6EnrichmentWNT10B0.72
727Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD550.72
728Myofibromatosis, infantile, 1EnrichmentPDGFRB0.72
729Pseudohypoaldosteronism, type iieEnrichmentCUL30.72
730Fibrochondrogenesis 1EnrichmentCOL11A10.72
731Melanosis, neurocutaneousEnrichmentNRAS0.72
732Tooth agenesis, selective, 7EnrichmentLRP60.72
733Symphalangism, proximal, 1aEnrichmentNOG0.72
734Thanatophoric dysplasia, type iiEnrichmentFGFR30.72
735Tremor, hereditary essential, 1EnrichmentDRD30.72
736Amyotrophic lateral sclerosis 18EnrichmentPFN10.72
737Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM20.72
738Noonan syndrome 9EnrichmentSOS20.72
739Hypogonadotropic hypogonadism 8 with or without anosmiaEnrichmentKISS1R0.72
740Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A10.72
741Bleeding disorder, platelet-type, 18EnrichmentRASGRP20.72
742Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY50.72
743Hypogonadotropic hypogonadism 14 with or without anosmiaEnrichmentWDR110.72
744Sessile serrated polyposis cancer syndromeEnrichmentRNF430.72
745Glucocorticoid resistance, generalizedEnrichmentNR3C10.72
746Blood group, cromer systemEnrichmentCD550.72
747Iga nephropathy 3EnrichmentSPRY20.72
748Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB10.72
749Focal segmental glomerulosclerosis 8EnrichmentANLN0.72
750Lethal congenital contracture syndrome 2EnrichmentERBB30.72
751Gand syndromeEnrichmentGATAD2B0.72
752Charcot-marie-tooth disease, demyelinating, type 1fEnrichmentNEFL0.72
753Increased analgesia from kappa-opioid receptor agonist, female-specificEnrichmentMC1R0.72
754Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS0.72
755Caudal duplication anomalyEnrichmentAXIN10.72
756Noonan syndrome 6EnrichmentNRAS0.72
757Dyskinesia, limb and orofacial, infantile-onsetEnrichmentPDE10A0.72
758Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI0.72
759Lissencephaly 5EnrichmentLAMB10.72
760Multiple synostoses syndrome 1EnrichmentNOG0.72
761Nephrotic syndrome, type 8EnrichmentARHGDIA0.72
762Weill-marchesani syndrome 2EnrichmentFBN10.72
763Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF170.72
764Tooth agenesis, selective, 8EnrichmentWNT10B0.72
765Senior-loken syndrome 8EnrichmentWDR190.72
766Retinitis pigmentosa 57EnrichmentPDE6G0.72
767Fetal encasement syndromeEnrichmentCHUK0.72
768Parkinson disease 17EnrichmentVPS350.72
769Vesicoureteral reflux 3EnrichmentSOX170.72
770Microcephaly 11, primary, autosomal recessiveEnrichmentPHC10.72
771Epilepsy, familial temporal lobe, 8EnrichmentGAL0.72
772Aortic aneurysm, familial thoracic 8EnrichmentPRKG10.72
773Charcot-marie-tooth disease, demyelinating, type 4hEnrichmentFGD40.72
774Ectodermal dysplasia 13, hair/tooth typeEnrichmentKREMEN10.72
775Cutis laxa, autosomal recessive, type iidEnrichmentATP6V1A0.72
776Wiskott-aldrich syndrome 2EnrichmentWIPF10.72
777Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunityEnrichmentRAG10.72
778Ciliary dyskinesia, primary, 33EnrichmentDRC40.72
779Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO10.72
780Brachydactyly, type a1, dEnrichmentBMPR1B0.72
781Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD0.72
782Hirschsprung disease 4EnrichmentEDN30.72
783Deafness, autosomal recessive 44EnrichmentADCY10.72
784Eculizumab, poor response toEnrichmentC50.72
785Gist-plus syndromeEnrichmentPDGFRA0.72
786Microvascular complications of diabetes 2EnrichmentEPO0.72
787Culler-jones syndromeEnrichmentGLI20.72
788Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR30.72
789Whim syndrome 1EnrichmentCXCR40.72
790Frontometaphyseal dysplasia 2EnrichmentMAP3K70.72
791Mirror movements 3EnrichmentDNAL40.72
792Greenberg dysplasiaEnrichmentLBR0.72
793Ataxia-oculomotor apraxia 3EnrichmentPIK3R50.72
794Developmental and epileptic encephalopathy 27EnrichmentGRIN2B0.72
795Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB0.72
796Geleophysic dysplasia 2EnrichmentFBN10.72
797Waardenburg syndrome, type 4bEnrichmentEDN30.72
798Ovarian dysgenesis 1EnrichmentFSHR0.72
799Accelerated tumor formationEnrichmentMDM20.72
800Bone mineral density quantitative trait locus 17EnrichmentLGR40.72
801Pulmonary hypertension, primary, 3EnrichmentCAV10.72
802Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK50.72
803Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A0.72
804Joubert syndrome 8EnrichmentARL13B0.72
805Spinocerebellar ataxia 41EnrichmentTRPC30.72
806Neuroocular syndrome 2, paroxysmal typeEnrichmentDAGLA0.72
807Cranioectodermal dysplasia 4EnrichmentWDR190.72
808Pelger-huet anomalyEnrichmentLBR0.72
809Premature chromatid separation traitEnrichmentBUB1B0.72
810Protrusio acetabuliEnrichmentFBN10.72
811Radioulnar synostosis, nonsyndromicEnrichmentSMAD60.72
812Thrombocytopenia 2EnrichmentANKRD260.72
813Microcephaly 16, primary, autosomal recessiveEnrichmentANKLE20.72
814Aplasia of lacrimal and salivary glandsEnrichmentFGF100.72
815Spinal muscular atrophy, facioscapulohumeral typeEnrichmentPLEKHG50.72
816Spinal muscular atrophy, late-onset, finkel typeEnrichmentVAPB0.72
817Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD0.72
818Sturge-weber syndromeEnrichmentGNAQ0.72
819Bent bone dysplasia syndrome 1EnrichmentFGFR20.72
820Ventricular tachycardia, familialEnrichmentGNAI20.72
821TritanopiaEnrichmentOPN1SW0.72
822Wilms tumor 6EnrichmentREST0.72
823Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD210.72
824Acrogeria, gottron typeEnrichmentCOL3A10.72
825Epiphyseal dysplasia, multiple, 6EnrichmentCOL9A10.72
826Weill-marchesani syndrome 3EnrichmentLTBP20.72
827Achondrogenesis, type iiEnrichmentCOL2A10.72
828Spinocerebellar ataxia, autosomal recessive 13EnrichmentGRM10.72
829Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA10.72
830Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS0.72
831Immunodeficiency 62EnrichmentARHGEF10.72
832Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA0.72
833Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B0.72
834Congenital hypotonia, epilepsy, developmental delay, and digital anomaliesEnrichmentATN10.72
835Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF10.72
836Noonan syndrome 11EnrichmentMRAS0.72
837Exudative vitreoretinopathy 8EnrichmentLRP60.72
838Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP10.72
839Naxos diseaseEnrichmentJUP0.72
840Intellectual developmental disorder with speech delay and dysmorphic faciesEnrichmentSOX40.72
841Angioedema, hereditary, 4EnrichmentPLG0.72
842Angioedema, hereditary, 5EnrichmentANGPT10.72
843Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3EnrichmentHNRNPA10.72
844Luo-schoch-yamamoto syndromeEnrichmentRNF20.72
845Cerebral cavernous malformations 4EnrichmentPIK3CA0.72
846Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB20.72
847Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF10.72
848Immunodeficiency 87 and autoimmunityEnrichmentDEF60.72
849Nabais sa-de vries syndrome, type 2EnrichmentSPOP0.72
850Oculopharyngodistal myopathy 3EnrichmentNOTCH2NLC0.72
851Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG10.72
852Immunodeficiency 15bEnrichmentIKBKB0.72
853Developmental delay with or without intellectual impairment or behavioral abnormalitiesEnrichmentTAOK10.72
854Ventriculomegaly and arthrogryposisEnrichmentKIDINS2200.72
855Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB20.72
856Joubert syndrome 22EnrichmentPDE6D0.72
857Auriculocondylar syndrome 3EnrichmentEDN10.72
858Spondylometaphyseal dysplasia, pagnamenta typeEnrichmentPRKG20.72
859Retinal dystrophy with leukodystrophyEnrichmentACBD50.72
860Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM10.72
861Stuve-wiedemann syndrome 2EnrichmentIL6ST0.72
862Noonan syndrome 13EnrichmentMAPK10.72
863Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST0.72
864Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF20.72
865Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB30.72
866Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B0.72
867Breasts and/or nipples, aplasia or hypoplasia of, 2EnrichmentPTPRF0.72
868Twinning, dizygoticEnrichmentFSHR0.72
869Retinitis pigmentosa 78EnrichmentARHGEF180.72
870Deafness, autosomal recessive 108EnrichmentROR10.72
871Immunodeficiency 107 invasive staphylococcus aureus infectionEnrichmentOTULIN0.72
872Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB10.72
873Nephrotic syndrome, type 26EnrichmentLAMA50.72
874Orofaciodigital syndrome xviiiEnrichmentIFT570.72
875Immunodeficiency 82 with systemic inflammationEnrichmentSYK0.72
876Intellectual developmental disorder, x-linked, syndromic, billuart typeEnrichmentOPHN10.72
877Developmental and epileptic encephalopathy 58EnrichmentNTRK20.72
878Intellectual developmental disorder, autosomal recessive 78EnrichmentWDR110.72
87946,xy sex reversal 10EnrichmentSOX90.72
880Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B0.72
881Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM10.72
882Adams-oliver syndrome 6EnrichmentDLL40.72
883Rhizomelic skeletal dysplasia with or without pelger-huet anomalyEnrichmentLBR0.72
884Tumoral calcinosis, hyperphosphatemic, familial, 3EnrichmentKL0.72
885Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY50.72
886Polydactyly, postaxial, type a8EnrichmentGLI10.72
887Immunodeficiency 15aEnrichmentIKBKB0.72
888Intellectual developmental disorder, x-linked, syndromic, houge typeEnrichmentCNKSR20.72
889Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT60.72
890Bleeding disorder, platelet-type, 25EnrichmentTPM40.72
891Nephrotic syndrome, type 19EnrichmentNUP1600.72
892Pituitary adenoma 3, multiple typesEnrichmentGNAS0.72
893Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP0.72
894Maple syrup urine disease, type iiEnrichmentDBT0.72
895Joubert syndrome 32EnrichmentSUFU0.72
896Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF30.72
897Developmental and epileptic encephalopathy 74EnrichmentGABRG20.72
898Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunctionEnrichmentLETM10.72
899Skin/hair/eye pigmentation, variation in, 2EnrichmentMC1R0.72
900Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR30.72
901Venous malformations, multiple cutaneous and mucosalEnrichmentTEK0.72
902Knobloch syndrome 2EnrichmentPAK20.72
903Epiphyseal dysplasia, multiple, 2EnrichmentCOL9A20.72
904Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A0.72
905Chromosome 2q37 deletion syndromeEnrichmentHDAC40.72
906Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayEnrichmentPBX10.72
907Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB0.72
908Deafness, autosomal dominant 4aEnrichmentMYH140.72
909Auriculocondylar syndrome 4EnrichmentHDAC90.72
910Terminal osseous dysplasiaEnrichmentFLNA0.72
911Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC200.72
912Developmental and epileptic encephalopathy 91EnrichmentPPP3CA0.72
913Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A0.72
914Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC30.72
915Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B0.72
916Congenital myopathy 8EnrichmentACTN20.72
917Lessel-kubisch syndromeEnrichmentMDM20.72
918Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA0.72
919Charcot-marie-tooth disease, dominant intermediate gEnrichmentNEFL0.72
920Cornelia de lange syndrome 5EnrichmentHDAC80.72
921Ullrich congenital muscular dystrophy 1bEnrichmentCOL6A20.72
922Neurodevelopmental disorder with poor language and loss of hand skillsEnrichmentGABBR20.72
923Developmental and epileptic encephalopathy 59EnrichmentGABBR20.72
924Humerofemoral hypoplasia with radiotibial ray deficiencyEnrichmentRSPO20.72
925Immunodeficiency 48EnrichmentZAP700.72
926Mullegama-klein-martinez syndromeEnrichmentSTAG20.72
927Short syndromeEnrichmentPIK3R10.72
928Spherocytosis, type 3EnrichmentSPTA10.72
929Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK10.72
930Bone marrow failure syndrome 5EnrichmentTP530.72
931Von willebrand disease, type 3EnrichmentVWF0.72
932Tolchin-le caignec syndromeEnrichmentSOX60.72
933Houge-janssens syndrome 4EnrichmentPPP2R5C0.72
93446,xx sex reversal 2EnrichmentSOX90.72
935Mitochondrial complex i deficiency, nuclear type 8EnrichmentNDUFS30.72
936Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B0.72
937Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG0.72
938Nivelon-nivelon-mabille syndromeEnrichmentHHAT0.72
939Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A20.72
940Progesterone resistanceEnrichmentPGR0.72
941Hereditary lymphedema idEnrichmentVEGFC0.72
942Hypothyroidism, congenital, nongoitrous, 4EnrichmentTSHB0.72
943Stankiewicz-isidor syndromeEnrichmentPSMD120.72
944Winchester syndromeEnrichmentMMP140.72
945Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB0.72
946Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG10.72
947Bleeding disorder, platelet-type, 13EnrichmentTBXA2R0.72
948Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B0.72
949Colorblindness, partial, protan seriesEnrichmentOPN1LW0.72
950Fg syndrome 2EnrichmentFLNA0.72
951Premature ovarian failure 2aEnrichmentDIAPH20.72
952Charcot-marie-tooth disease type 2bEnrichmentRAB7A0.72
953Vascular malformation, primary intraosseousEnrichmentELMO20.72
954Al-gazali-bakalinova syndromeEnrichmentKIF70.72
955Osteofibrous dysplasiaEnrichmentMET0.72
956Diarrhea 9EnrichmentWNT2B0.72
957Deafness, autosomal recessive 37EnrichmentMYO60.72
958Papilloma of choroid plexusEnrichmentTP530.72
959Adrenal cortical adenomaEnrichmentMEN10.72
960Spondyloperipheral dysplasiaEnrichmentCOL2A10.72
961Myosclerosis, autosomal recessiveEnrichmentCOL6A20.72
962Galloway-mowat syndrome 8EnrichmentNUP1330.72
963Intellectual developmental disorder, x-linked, with panhypopituitarismEnrichmentSOX30.72
964Auriculocondylar syndrome 2aEnrichmentPLCB40.72
965Body mass index quantitative trait locus 20EnrichmentMC4R0.72
966Basal cell carcinoma 7EnrichmentTP530.72
967PorencephalyEnrichmentCOL4A10.72
968Ullrich congenital muscular dystrophy 1cEnrichmentCOL6A30.72
969Deafness, autosomal dominant 37EnrichmentCOL11A10.72
970Immunodeficiency 110 with lymphoproliferationEnrichmentSTK40.72
971Isolated growth hormone deficiency type iiiEnrichmentBTK0.72
972Lymphoplasmacytic lymphomaEnrichmentFBN10.72
973Imagawa-matsumoto syndromeEnrichmentSUZ120.72
974Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X0.72
975Intellectual developmental disorder, x-linked 46EnrichmentARHGEF60.72
976Deafness, dystonia, and cerebral hypomyelinationEnrichmentBCAP310.72
977Autism 19EnrichmentEIF4E0.72
978Hypospadias 2, x-linkedEnrichmentMAMLD10.72
979Deafness, autosomal recessive 68EnrichmentS1PR20.72
980Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA30.72
981Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA0.72
982Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C0.72
983Hypogonadotropic hypogonadism 4 with or without anosmiaEnrichmentPROK20.72
984Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC20.72
985Anaplastic thyroid carcinomaEnrichmentTP530.72
986Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversalEnrichmentRSPO10.72
987Deeah syndromeEnrichmentMADD0.72
988Ifap syndrome 2EnrichmentSREBF10.72
989Spermatogenic failure 47EnrichmentDZIP10.72
990Cardioacrofacial dysplasia 2EnrichmentPRKACB0.72
991Intellectual developmental disorder with paroxysmal dyskinesia or seizuresEnrichmentPDE2A0.72
992Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN20.72
993Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG20.72
994Lowe oculocerebrorenal syndromeEnrichmentOCRL0.72
995Angioedema, hereditary, 6EnrichmentKNG10.72
996T-cell large granular lymphocyte leukemiaEnrichmentSTAT30.72
997Metacarpal 4-5 fusionEnrichmentFGF160.72
998Adult onset demyelinating leukodystrophyEnrichmentLMNB10.72
999Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN10.72
1000Dowling-degos disease 4EnrichmentPOGLUT10.72
1001Epiphyseal dysplasia, multiple, 3EnrichmentCOL9A30.72
1002Parkinson disease 24, autosomal dominantEnrichmentPSAP0.72
1003Lymphatic malformation 4EnrichmentVEGFC0.72
1004Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE10.72
1005Central diabetes insipidusEnrichmentAVP0.72
1006Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C0.72
1007Cerebral palsy, spastic quadriplegic, 3EnrichmentADD30.72
1008Noonan syndrome 14EnrichmentSPRED20.72
1009Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI10.72
1010Myxoma, intracardiacEnrichmentPRKAR1A0.72
1011Renal hypodysplasia/aplasia 4EnrichmentGFRA10.72
1012Cardiomyopathy, dilated, 1vEnrichmentPSEN20.72
1013Hepatorenocardiac degenerative fibrosisEnrichmentTULP30.72
1014X-linked nephrogenic diabetes insipidusEnrichmentAVPR20.72
1015Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA10.72
1016Osteoporosis-pseudoglioma syndromeEnrichmentLRP50.72
1017Myoclonus, intractable, neonatalEnrichmentKIF5A0.72
1018Papillary tumor of the pineal regionEnrichmentPTEN0.72
1019Lipodystrophy, familial partial, type 7EnrichmentCAV10.72
1020Tooth agenesis, selective, 9EnrichmentGREM20.72
1021Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP10.72
1022Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG20.72
1023Lacrimoauriculodentodigital syndrome 3EnrichmentFGF100.72
1024Familial isolated trichomegalyEnrichmentFGF50.72
1025Charcot-marie-tooth disease type 4hEnrichmentFGD40.72
1026Amyotrophic lateral sclerosis 8EnrichmentVAPB0.72
1027Coach syndrome 3EnrichmentRPGRIP1L0.72
1028Neurodevelopmental disorder with or without early-onset generalized epilepsyEnrichmentNBEA0.72
1029Coronary artery disease, autosomal dominant 2EnrichmentLRP60.72
1030Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF100.72
1031Bone mineral density quantitative trait locus 16EnrichmentWNT10.72
1032Auditory neuropathy, autosomal dominant 1EnrichmentDIAPH30.72
1033Prolonged electroretinal response suppression 1EnrichmentRGS90.72
1034Cardiofaciocutaneous syndrome 2EnrichmentKRAS0.72
1035Developmental and epileptic encephalopathy 17EnrichmentGNAO10.72
1036Houge-janssens syndrome 2EnrichmentPPP2R1A0.72
1037Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2EnrichmentWDR810.72
1038Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC30.72
1039Alzheimer disease 18EnrichmentADAM100.72
1040Deafness, autosomal dominant 13EnrichmentCOL11A20.72
1041Multiple symmetric lipomatosisEnrichmentMFN20.72
1042Mitral valve prolapse 3EnrichmentDZIP10.72
1043Developmental and epileptic encephalopathy 19EnrichmentGABRA10.72
1044Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY50.72
1045Deafness, autosomal recessive 97EnrichmentMET0.72
1046Radioulnar synostosis with amegakaryocytic thrombocytopenia 2EnrichmentMECOM0.72
1047Microvascular complications of diabetes 1EnrichmentVEGFA0.72
1048Ovary adenocarcinomaEnrichmentINHBA0.72
1049Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF30.72
1050Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT30.72
1051Cardiomyopathy, dilated, 1wEnrichmentVCL0.72
1052LymphangiomaEnrichmentBRAF0.72
1053Spermatogenic failure 72EnrichmentWDR190.72
1054Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG0.72
1055Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB50.72
1056Spinocerebellar ataxia 40EnrichmentCCDC88C0.72
1057Muscular dystrophy, limb-girdle, autosomal recessive 21EnrichmentPOGLUT10.72
1058Diaphragmatic hernia 4, with cardiovascular defectsEnrichmentALDH1A20.72
1059Crouzon syndrome with acanthosis nigricansEnrichmentFGFR30.72
1060Camurati-engelmann disease 2EnrichmentTGFB20.72
1061Hemifacial myohyperplasiaEnrichmentPIK3CA0.72
1062Spondyloepimetaphyseal dysplasia, shohat typeEnrichmentDDRGK10.72
1063Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG10.72
1064Question mark ears, isolatedEnrichmentEDN10.72
1065Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP100.72
1066Immunodeficiency 40EnrichmentDOCK20.72
1067Noonan syndrome-like disorder with loose anagen hair 1EnrichmentSHOC20.72
1068Acrocapitofemoral dysplasiaEnrichmentIHH0.72
1069Geleophysic dysplasia 3EnrichmentLTBP30.72
1070Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A0.72
1071Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN10.72
1072Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA0.72
1073Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP50.72
1074Phace associationEnrichmentBRAF0.72
1075Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB10.72
1076Amyotrophic lateral sclerosis 25EnrichmentKIF5A0.72
1077Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2aEnrichmentMFN20.72
1078Spinocerebellar ataxia 14EnrichmentPRKCG0.72
1079Otopalatodigital syndrome spectrum disorderEnrichmentFLNA0.72
1080Cerebral amyloid angiopathy, app-relatedEnrichmentAPP0.72
1081Ophthalmoplegia, external, with rib and vertebral anomaliesEnrichmentMYF50.72
1082Santos syndromeEnrichmentWNT7A0.72
1083Microcephaly 4, primary, autosomal recessiveEnrichmentKNL10.72
1084Microcephaly 24, primary, autosomal recessiveEnrichmentNUP370.72
1085Becker nevus syndromeEnrichmentACTB0.72
1086MicrolissencephalyEnrichmentWDR810.72
1087MicrohydranencephalyEnrichmentNDE10.72
1088Ovarian dysgenesis 8EnrichmentESR20.72
1089Celiac disease 4EnrichmentMYO9B0.72
1090Ovarian hyperstimulation syndromeEnrichmentFSHR0.72
1091Myopathy, distal, 3EnrichmentHNRNPA10.72
1092Galloway-mowat syndrome 7EnrichmentNUP1070.72
1093Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH0.72
1094MelorheostosisEnrichmentMAP2K10.72
1095Senior-loken syndrome 4EnrichmentNPHP40.72
1096Gaucher disease, atypical, due to saposin c deficiencyEnrichmentPSAP0.72
1097Dystonia-deafness syndrome 1EnrichmentACTB0.72
1098Neuroendocrine tumorEnrichmentCDKN1B0.72
1099Body mass index quantitative trait locus 10EnrichmentFFAR40.72
1100Autism 9EnrichmentMET0.72
1101Hirschsprung disease, cardiac defects, and autonomic dysfunctionEnrichmentECE10.72
1102Immunodeficiency 67EnrichmentIRAK40.72
1103Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT10.72
1104Hyperpigmentation, familial progressive, 1EnrichmentSPTA10.72
1105Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A10.72
1106Holoprosencephaly 9EnrichmentGLI20.72
1107Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR20.72
1108Short-rib thoracic dysplasia 5 with or without polydactylyEnrichmentWDR190.72
1109Oculopharyngodistal myopathy 2EnrichmentGIPC10.72
1110Mungan syndromeEnrichmentRAD210.72
1111Deafness, autosomal dominant 27EnrichmentREST0.72
1112Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B0.72
1113Cardiomyopathy, dilated, 1uEnrichmentPSEN10.72
1114Leopard syndrome 2EnrichmentRAF10.72
1115Erythrocytosis, familial, 4EnrichmentEPAS10.72
1116Coronary heart disease 6EnrichmentMMP30.72
1117Epilepsy, idiopathic generalized 8EnrichmentCASR0.72
1118Retinitis pigmentosa 44EnrichmentRGR0.72
1119Radiohumeral fusions with other skeletal and craniofacial anomaliesEnrichmentCYP26B10.72
1120Multiple synostoses syndrome 3EnrichmentFGF90.72
1121Stickler syndrome, type ivEnrichmentCOL9A10.72
1122Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B0.72
1123Charcot-marie-tooth disease type 1fEnrichmentNEFL0.72
1124Periodic fever, menstrual cycle-dependentEnrichmentHTR1A0.72
1125Glaucoma 1, open angle, oEnrichmentNTF40.72
1126Holoprosencephaly 11EnrichmentCDON0.72
1127Cerebral palsy, spastic quadriplegic, 2EnrichmentKANK10.72
1128Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R0.72
1129Hypogonadotropic hypogonadism 10 with or without anosmiaEnrichmentTAC30.72
1130Cortical malformations, occipitalEnrichmentLAMC30.72
1131Lethal congenital contracture syndrome 5EnrichmentDNM20.72
1132Hypogonadotropic hypogonadism 13 with or without anosmiaEnrichmentKISS10.72
1133Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL0.72
1134Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB0.72
1135Immunodeficiency 31aEnrichmentSTAT10.72
1136Focal facial dermal dysplasia 4EnrichmentCYP26C10.72
1137Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB0.72
1138Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R0.72
1139Congenital disorder of glycosylation, type iiaaEnrichmentSTX50.72
1140Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A0.72
1141Dystonia 25EnrichmentGNAL0.72
1142Hypothyroidism, congenital, nongoitrous, 7EnrichmentTRHR0.72
1143Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R10.72
1144Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH10.72
1145Cardiofaciocutaneous syndrome 4EnrichmentMAP2K20.72
1146Craniosynostosis 3EnrichmentTCF120.72
1147Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD0.72
1148Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG20.72
1149Dowling-degos disease 2EnrichmentPOFUT10.72
1150Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B0.72
1151Night blindness, congenital stationary, type 1gEnrichmentGNAT10.72
1152Zimmermann-laband syndrome 2EnrichmentATP6V1B20.72
1153Long qt syndrome 16EnrichmentCALM30.72
1154Hypocalcemia, autosomal dominant 2EnrichmentGNA110.72
1155Cowden syndrome 6EnrichmentAKT10.72
1156Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A0.72
1157Lissencephaly 4 with microcephalyEnrichmentNDE10.72
1158Nabais sa-de vries syndrome, type 1EnrichmentSPOP0.72
1159Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF20.72
1160Immunodeficiency 46EnrichmentTFRC0.72
1161Amyotrophic lateral sclerosis 19EnrichmentERBB40.72
1162Hypogonadotropic hypogonadism 18 with or without anosmiaEnrichmentIL17RD0.72
1163Pulmonary hypertension, primary, 2EnrichmentSMAD90.72
1164Nephrotic syndrome, type 6EnrichmentPTPRO0.72
1165Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R0.72
1166Bleeding disorder, platelet-type, 15EnrichmentACTN10.72
1167Congenital myopathy 17EnrichmentMYOD10.72
1168Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP60.72
1169Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH140.72
1170Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A0.72
1171Microphthalmia, syndromic 12EnrichmentRARB0.72
1172Reticulate acropigmentation of kitamuraEnrichmentADAM100.72
1173Myofibromatosis, infantile, 2EnrichmentNOTCH30.72
1174Nephronophthisis 13EnrichmentWDR190.72
1175Nasopharyngeal carcinoma 3EnrichmentMST1R0.72
1176Fibrochondrogenesis 2EnrichmentCOL11A20.72
1177Amyotrophic lateral sclerosis 20EnrichmentHNRNPA10.72
1178Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT20.72
1179Acrodysostosis 2 with or without hormone resistanceEnrichmentPDE4D0.72
1180AmenorrheaEnrichmentFSHR0.72
1181Microcephaly 26, primary, autosomal dominantEnrichmentLMNB10.72
1182Recombinase activating gene 1 deficiencyEnrichmentRAG10.72
1183Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A0.72
1184Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA0.72
1185Oculomotor-abducens synkinesisEnrichmentACKR30.72
1186Melanoma, cutaneous malignant 5EnrichmentMC1R0.72
1187Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD0.72
1188Dystonia 27EnrichmentCOL6A30.72
1189Radio-tartaglia syndromeEnrichmentSPEN0.72
1190Brachydactyly, type e2EnrichmentPTHLH0.72
1191Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB0.72
1192Meckel syndrome, type 5EnrichmentRPGRIP1L0.72
1193Immunodeficiency, common variable, 3EnrichmentCD190.72
1194Loeys-dietz syndrome 6EnrichmentSMAD20.72
1195Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB40.72
1196Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R10.72
1197Hirschsprung disease 3EnrichmentGDNF0.72
1198Colorectal cancer 3EnrichmentSMAD70.72
1199Acute myeloid leukemia with minimal differentiationEnrichmentFLT30.72
1200Microphthalmia/coloboma 11EnrichmentFZD50.72
1201Epilepsy, childhood absence 5EnrichmentGABRB30.72
1202Retinitis pigmentosa 4EnrichmentRHO0.72
1203Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG0.72
1204Macular degeneration, age-related, 9EnrichmentC30.72
1205Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN0.72
1206Developmental and epileptic encephalopathy 101EnrichmentGRIN10.72
1207Spermatogenic failure 70EnrichmentPDHA20.72
1208Immunodeficiency 31bEnrichmentSTAT10.72
1209Neurocardiofaciodigital syndromeEnrichmentMAPKAPK50.72
1210Reynolds syndromeEnrichmentLBR0.72
1211Autoinflammation with arthritis and vasculitisEnrichmentTBK10.72
1212Type 1 diabetes mellitus 22EnrichmentCCR50.72
1213Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD280.72
1214Krabbe disease, atypical, due to saposin a deficiencyEnrichmentPSAP0.72
1215Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF80.72
1216Cdc73-related disordersEnrichmentCDC730.72
1217Obesity, hyperphagia, and developmental delayEnrichmentNTRK20.72
1218Disorders of gnas inactivationEnrichmentGNAS0.72
1219Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D0.72
1220Meckel syndrome, type 10EnrichmentB9D20.72
1221Glioma susceptibility 2EnrichmentPTEN0.72
1222Macular dystrophy, patterned, 3EnrichmentMAPKAPK30.72
1223Acne inversa, familial, 3EnrichmentPSEN10.72
1224Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF150.72
1225Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF40.72
1226Lipodystrophy, congenital generalized, type 4EnrichmentCAVIN10.72
1227Complement component 3 deficiency, autosomal recessiveEnrichmentC30.72
1228Macular degeneration, age-related, 12EnrichmentCX3CR10.72
1229Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN10.72
1230Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR30.72
1231Pregnancy loss, recurrent 2EnrichmentF20.72
1232Ductal carcinoma in situEnrichmentTP530.72
1233Kosaki overgrowth syndromeEnrichmentPDGFRB0.72
1234Schizophrenia 16EnrichmentVIPR20.72
1235Familial cold autoinflammatory syndrome 3EnrichmentPLCG20.72
1236Fibromatosis, gingival, 5EnrichmentREST0.72
1237Retinitis pigmentosa 43EnrichmentPDE6A0.72
1238Pigmented nodular adrenocortical disease, primary, 3EnrichmentPDE8B0.72
1239Developmental and epileptic encephalopathy 56EnrichmentYWHAG0.72
1240Nephrotic syndrome, type 11EnrichmentNUP1070.72
1241Stickler syndrome, type vEnrichmentCOL9A20.72
1242Leptin receptor deficiencyEnrichmentLEPR0.72
1243Developmental and epileptic encephalopathy 92EnrichmentGABRB20.72
1244Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP0.72
1245Amyloidosis, primary localized cutaneous, 3EnrichmentGPNMB0.72
1246Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA40.72
1247Striatal degeneration, autosomal dominant 2EnrichmentPDE10A0.72
1248Erythrocytosis, familial, 5EnrichmentEPO0.72
1249Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP700.72
1250Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF230.72
1251Ovarian small cell carcinomaEnrichmentSMARCA40.72
1252Deafness, autosomal dominant 75EnrichmentTRRAP0.72
1253Hartsfield syndromeEnrichmentFGFR10.72
1254Congenital heart defects, multiple types, 7EnrichmentFLT40.72
1255Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A0.72
1256Loeys-dietz syndrome 5EnrichmentTGFB30.72
1257Dync1h1-related disordersEnrichmentDYNC1H10.72
1258Intellectual developmental disorder, autosomal recessive 64EnrichmentLINGO10.72
1259Renal hypodysplasia/aplasia 2EnrichmentFGF200.72
1260Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG30.72
1261Immunodeficiency 22EnrichmentLCK0.72
1262Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT30.72
1263Cardioacrofacial dysplasia 1EnrichmentPRKACA0.72
1264Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE0.72
1265Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP10.72
1266Visual impairment and progressive phthisis bulbiEnrichmentMARK30.72
1267Neurodevelopmental disorder with or without autism or seizuresEnrichmentCUL30.72
1268Als2-related disorderEnrichmentALS20.72
1269Bile acid synthesis defect, congenital, 5EnrichmentABCD30.72
127020p12.3 microdeletion syndromeEnrichmentBMP20.72
1271Mahvash diseaseEnrichmentGCGR0.72
1272Thrombocytopenia 6EnrichmentSRC0.72
1273Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A0.72
1274Cohen-gibson syndromeEnrichmentEED0.72
1275Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessiveEnrichmentOTULIN0.72
1276Cutis laxa, autosomal recessive, type iieEnrichmentLTBP10.72
1277Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST0.72
1278Was-related disordersEnrichmentWAS0.72
1279X-linked ehlers-danlos syndromeEnrichmentFLNA0.72
1280Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH10.72
1281Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG20.72
1282Spherocytosis, type 2EnrichmentSPTB0.72
1283Xq25 microduplication syndromeEnrichmentSTAG20.72
1284Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA0.72
1285Spastic paraplegia 75, autosomal recessiveEnrichmentMAG0.72
1286Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA10.72
1287Takenouchi-kosaki syndromeEnrichmentCDC420.72
1288Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A0.72
1289Immunodeficiency, common variable, 13EnrichmentIKZF10.72
1290Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST0.72
1291Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB10.72
1292Chilton-okur-chung neurodevelopmental syndromeEnrichmentCDC42BPB0.72
1293Short-rib thoracic dysplasia 16 with or without polydactylyEnrichmentIFT520.72
1294Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB60.72
1295Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A10.72
1296Developmental and epileptic encephalopathy 43EnrichmentGABRB30.72
1297Developmental and epileptic encephalopathy 45EnrichmentGABRB10.72
1298Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2bEnrichmentMFN20.72
1299Microcephaly 20, primary, autosomal recessiveEnrichmentKIF140.72
1300Hydrocephalus, congenital, 3, with brain anomaliesEnrichmentWDR810.72
1301Glaucoma 3, primary congenital, eEnrichmentTEK0.72
1302Cutis laxa, autosomal recessive, type iicEnrichmentATP6V1E10.72
1303Corticobasal syndromeEnrichmentTBK10.72
1304Developmental and epileptic encephalopathy 64EnrichmentRHOBTB20.72
1305Townes-brocks syndrome 2EnrichmentDACT10.72
1306Ovarian dysgenesis 6EnrichmentNUP1070.72
1307Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB0.72
1308Deafness, autosomal dominant 74EnrichmentPDE1C0.72
1309Spinocerebellar ataxia 44EnrichmentGRM10.72
1310Isolated growth hormone deficiency, type ivEnrichmentGHRHR0.72
1311Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH10.72
1312Bartsocas-papas syndrome 2EnrichmentCHUK0.72
1313Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG10.72
1314Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP20.72
1315Epilepsy, familial adult myoclonic, 7EnrichmentRAPGEF20.72
1316Sick sinus syndrome 4EnrichmentGNB20.72
1317Finnish upper limb-onset distal myopathyEnrichmentHNRNPA10.72
1318Combined low ldl and fibrinogenEnrichmentB4GALT10.72
1319Deafness, autosomal recessive 114EnrichmentGRAP0.72
1320Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN0.72
1321Tetraamelia syndrome 2EnrichmentRSPO20.72
1322Von willebrand's diseaseEnrichmentVWF0.72
1323Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB0.72
1324Alfadhel syndromeEnrichmentRAP1GDS10.72
1325Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN20.72
1326Intellectual developmental disorder with hypertelorism and distinctive faciesEnrichmentCCNK0.72
1327Qualitative or quantitative defects of collagen 6EnrichmentCOL6A20.72
1328Short stature and microcephaly with genital anomaliesEnrichmentCENPT0.72
1329Menke-hennekam syndrome 1EnrichmentCREBBP0.72
1330Hyperplastic polyposis syndromeEnrichmentRNF430.72
1331Nephrotic syndrome, type 18EnrichmentNUP1330.72
1332Myasthenic syndrome, congenital, 24, presynapticEnrichmentMYO9A0.72
1333Developmental and epileptic encephalopathy 68EnrichmentTRAK10.72
1334Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC40.72
1335Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM10.72
1336Short sleep, familial natural, 2EnrichmentADRB10.72
1337Infantile-onset mesial temporal lobe epilepsy with severe cognitive regressionEnrichmentTNK20.72
1338Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesEnrichmentSEL1L0.72
1339Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesEnrichmentGRM70.72
1340Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB0.72
1341Periventricular nodular heterotopia 7EnrichmentNEDD4L0.72
1342Amelogenesis imperfecta, hypomaturation type, iia6EnrichmentGPR680.72
1343Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP0.72
1344Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulationEnrichmentRALGAPA10.72
1345Intellectual developmental disorder, autosomal dominant 63, with macrocephalyEnrichmentTRIO0.72
1346Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I20.72
1347Lethal occipital encephalocele-skeletal dysplasia syndromeEnrichmentCYP26B10.72
1348Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK10.72
1349Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA0.72
1350Peho-like syndromeEnrichmentCCDC88A0.72
1351Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A0.72
1352Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC20.72
1353Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotoniaEnrichmentMADD0.72
1354Encephalopathy, acute, infection-induced 8EnrichmentTBK10.72
1355Elliptocytosis 3EnrichmentSPTB0.72
1356Multisystem proteinopathyEnrichmentVCP0.72
1357Chronic mast cell leukemiaEnrichmentKIT0.72
1358Beta-glucopyranoside tastingEnrichmentTAS2R160.72
1359Obesity due to melanocortin 4 receptor deficiencyEnrichmentMC4R0.72
1360Amyotrophic lateral sclerosis 26 with or without frontotemporal dementiaEnrichmentTIA10.72
1361TelangiectasisEnrichmentACVRL10.72
1362Autosomal recessive dyskeratosis congenita 4EnrichmentTERT0.72
1363TrigonitisEnrichmentRAF10.72
1364Red-green color blindnessEnrichmentOPN1MW0.72
1365Bent bone dysplasia syndrome 2EnrichmentLAMA50.72
1366Serum amyloid a amyloidosisEnrichmentSAA10.72
1367Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A10.72
1368Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaEnrichmentDOCK30.72
1369Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA0.72
1370Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B0.72
1371Immunodeficiency 129EnrichmentRHOH0.72
1372Autosomal recessive nonsyndromic deafness 32EnrichmentCDC14A0.72
1373Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosisEnrichmentOXGR10.72
1374Thyroid gland undifferentiated carcinomaEnrichmentTP530.72
1375Auriculocondylar syndrome 2bEnrichmentPLCB40.72
1376Neurodevelopmental disorder with language delay and variable cognitive abnormalitiesEnrichmentGABBR10.72
1377Tufted angioma of skinEnrichmentKDR0.72
1378Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN10.72
1379Asphyxia neonatorumEnrichmentCOL1A10.72
1380Whim syndrome 2EnrichmentCXCR20.72
1381Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G0.72
1382HydranencephalyEnrichmentNDE10.72
1383Melorheostosis with osteopoikilosisEnrichmentLEMD30.72
1384Intellectual developmental disorder, autosomal dominant 74EnrichmentHNRNPC0.72
1385Immunodeficiency 86EnrichmentSPPL2A0.72
1386CraniorachischisisEnrichmentDACT10.72
1387Deafness, autosomal dominant 69EnrichmentKITLG0.72
1388Bethlem myopathy 1bEnrichmentCOL6A20.72
1389Plexiform neurofibromaEnrichmentNF10.72
1390Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD20.72
1391Multiple epiphyseal dysplasia, al-gazali typeEnrichmentKIF70.72
1392Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA80.72
1393Primary intraosseous venous malformationEnrichmentELMO20.72
1394Dworschak-punetha neurodevelopmental syndromeEnrichmentPLXNA10.72
1395Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP530.72
1396Developmental and epileptic encephalopathy 104EnrichmentATP6V0A10.72
1397Complement component 3 deficiencyEnrichmentC30.72
1398T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK30.72
1399Neurodevelopmental disorder with epilepsy and brain atrophyEnrichmentATP6V0A10.72
1400Lung diseaseEnrichmentDYNC2H10.72
1401NarcolepsyEnrichmentHCRT0.72
1402Microcephaly 30, primary, autosomal recessiveEnrichmentBUB10.72
1403Developmental delay, hypotonia, and impaired languageEnrichmentFBXW70.72
1404Adenoid ameloblastomaEnrichmentCTNNB10.72
1405Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN10.72
1406Arthrogryposis, distal, type 11EnrichmentMET0.72
1407Amelogenesis imperfecta, type ihEnrichmentITGB60.72
1408NeurofibromaEnrichmentNF10.72
1409Developmental delay with or without epilepsyEnrichmentSPTAN10.72
1410Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR30.72
1411Long qt syndrome 15EnrichmentCALM20.72
1412Meckel syndrome 12EnrichmentKIF140.72
1413Recombinase activating gene 2 deficiencyEnrichmentRAG20.72
1414Baraitser-winter syndromeEnrichmentACTB0.72
1415Lissencephaly due to tuba1a mutationEnrichmentTUBA1A0.72
1416Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L10.72
1417Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG0.72
1418Combined immunodeficiency due to dimerization defective ikaros mutationEnrichmentIKZF10.72
1419Heritable thoracic aortic diseaseEnrichmentSMAD40.72
1420Immunodeficiency 125EnrichmentFLT3LG0.72
1421Isolated gonadotropin-releasing hormone deficiencyEnrichmentGNRHR0.72
1422Craniofaciocardiohepatic syndromeEnrichmentAMOTL10.72
1423Nde1-related microhydranencephalyEnrichmentNDE10.72
1424Col4a1-related disordersEnrichmentCOL4A10.72
1425Congenital myopathy 26EnrichmentTUBA4A0.72
1426Occipital pachygyria and polymicrogyriaEnrichmentLAMC30.72
1427Non-syndromic non-specific multisutural craniosynostosisEnrichmentFUZ0.72
1428Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A0.72
1429Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A0.72
1430Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF40.72
1431Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP20.72
143245,x/46,xy mixed gonadal dysgenesisEnrichmentSRY0.72
1433Autosomal recessive limb-girdle muscular dystrophy type 2zEnrichmentPOGLUT10.72
1434Adult-onset distal myopathy due to vcp mutationEnrichmentVCP0.72
1435Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP30.72
1436Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP0.72
1437Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A0.72
1438Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN10.72
1439Short stature due to growth hormone secretagogue receptor deficiencyEnrichmentGHSR0.72
1440Immunodeficiency 126EnrichmentPTCRA0.72
1441Congenital fibrinogen deficiencyEnrichmentFGG0.72
1442Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X0.72
1443Autosomal recessive spastic paraplegia type 59EnrichmentUSP80.72
1444Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA30.72
1445Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH0.72
1446Lipodystrophy, familial partial, type 8EnrichmentADRA2A0.72
1447Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominantEnrichmentOTULIN0.72
1448Charcot-marie-tooth disease type 5EnrichmentMFN20.72
1449Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM20.72
1450HypospadiasEnrichmentPIK3CA0.72
1451Bockenheimer syndromeEnrichmentTEK0.72
1452Bethlem myopathy 1cEnrichmentCOL6A30.72
1453Retinal lattice degenerationEnrichmentCOL9A30.72
1454T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH0.72
1455Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B0.72
1456Lrp5-related primary osteoporosisEnrichmentLRP50.72
1457Capillary hemangiomaEnrichmentAKT30.72
1458Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP530.72
1459Pulmonary hypertension, primary, 7EnrichmentSOX170.72
1460Charcot-marie-tooth disease type 1dEnrichmentEGR20.72
1461Charcot-marie-tooth disease type 2b5EnrichmentNEFL0.72
1462Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP20.72
1463Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR30.72
1464Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndromeEnrichmentRSPO10.72
1465Autosomal dominant adult-onset proximal spinal muscular atrophyEnrichmentVAPB0.72
1466NeurofibromatosisEnrichmentNF10.72
1467Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyEnrichmentKLC40.72
1468ColitisEnrichmentSYK0.72
1469Autonomic nervous system diseaseEnrichmentDRD40.72
1470Autoimmune disease, multisystem, infantile-onset, 5EnrichmentCD2740.72
1471Multiple paragangliomas associated with polycythemiaEnrichmentEPAS10.72
1472HypercalcemiaEnrichmentCASR0.72
1473Epilepsy, early-onset, 3, with or without developmental delayEnrichmentATP6V0C0.72
1474Rhabdomyolysis 2EnrichmentATP2A20.72
1475Chromosome 15q24 deletion syndromeEnrichmentSIN3A0.72
1476Thrombocytopenia 10EnrichmentPTPRJ0.72
1477Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B0.72
1478Developmental dysplasia of the hip 4EnrichmentTRIM330.72
1479Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK10.72
1480Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B0.72
1481Prothrombin deficiencyEnrichmentF20.72
1482Transient cerebral ischemiaEnrichmentNOTCH30.72
1483Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT30.72
1484Relapsing-remitting multiple sclerosisEnrichmentHNRNPA10.72
1485Striatal degeneration, autosomal dominantEnrichmentPDE8B0.72
1486Yuksel-vogel-bauer syndromeEnrichmentDLG50.72
1487Congenital dyserythropoietic anemia type iiibEnrichmentRACGAP10.72
14885q14.3 microdeletion syndromeEnrichmentMEF2C0.72
1489Chromosome 17q11.2 deletion syndromeEnrichmentNF10.72
1490Familial hypocalciuric hypercalcemiaEnrichmentCASR0.72
1491Isolated bone marrow mastocytosisEnrichmentKIT0.72
1492Aquagenic palmoplantar keratodermaEnrichmentCFTR0.72
1493Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH90.72
1494Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A0.72
1495Primary pulmonary hypertensionEnrichmentBMPR20.72
1496Congenital pulmonary airway malformationEnrichmentKRAS0.72
1497Thyroid cancerEnrichmentRET0.72
1498Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A10.72
1499Smoldering systemic mastocytosisEnrichmentKIT0.72
1500Optic nerve gliomaEnrichmentNF10.72
1501Membranoproliferative glomerulonephritisEnrichmentC30.72
1502Choroid plexus cancerEnrichmentTP530.72
1503Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA80.72
1504Idiopathic hypercalciuriaEnrichmentADCY100.72
1505Primary membranoproliferative glomerulonephritisEnrichmentC30.72
1506Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO60.72
1507Rare venous malformationEnrichmentPIK3CA0.72
1508Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA20.72
1509Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH30.72
1510Pulmonary hypertensionEnrichmentBMPR20.72
1511Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A10.72
1512Turner syndromeEnrichmentPTCH10.72
1513Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A10.72
1514Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV0.72
1515Alk-positive anaplastic large cell lymphomaEnrichmentALK0.72
1516Vegetative pyoderma gangrenosumEnrichmentPTPN60.72
1517Charcot-marie-tooth disease type 2a2bEnrichmentMFN20.72
1518Familial adenomatous polyposisEnrichmentAPC0.72
1519Bullous pyoderma gangrenosumEnrichmentPTPN60.72
1520Immunodeficiency 64EnrichmentRASGRP10.72
1521Gorham's diseaseEnrichmentRASA10.72
1522Acute encephalopathy with biphasic seizures and late reduced diffusionEnrichmentADORA2A0.72
1523Diaphragmatic eventrationEnrichmentPIK3CA0.72
1524Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C0.72
1525HypochondrogenesisEnrichmentCOL2A10.72
1526Protein-losing enteropathyEnrichmentCD550.72
1527Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC20.72
1528Fgfr3-related chondrodysplasiaEnrichmentFGFR30.72
1529Adrenal adenomaEnrichmentMEN10.72
1530Acoustic neuromaEnrichmentNF20.72
1531Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP10.72
1532Complete androgen insensitivity syndromeEnrichmentAR0.72
1533Congenital smooth muscle hamartomaEnrichmentACTB0.72
1534Capillary leak syndromeEnrichmentTLN10.72
1535Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR20.72
1536Waldenstram macroglobulinemiaEnrichmentMYD880.72
1537X-linked alport syndromeEnrichmentCOL4A50.72
1538PneumothoraxEnrichmentCOL5A10.72
1539Pustular pyoderma gangrenosumEnrichmentPTPN60.72
1540Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC20.72
1541Nocarh syndromeEnrichmentCDC420.72
1542Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR20.72
1543MastocytosisEnrichmentKIT0.72
1544Esophagus squamous cell carcinomaEnrichmentWWOX0.72
1545Pik3ca-related overgrowth spectrumEnrichmentPIK3CA0.72
1546Congenital primary lymphedema of gordonEnrichmentVEGFC0.72
1547Syringocystadenoma papilliferumEnrichmentBRAF0.72
1548Developmental malformations-deafness-dystonia syndromeEnrichmentACTB0.72
1549Early-onset combined immunodeficiency with low ig due to dominant negative ikaros mutationEnrichmentIKZF10.72
1550Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK0.72
1551Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR30.72
1552Menke-hennekam syndromeEnrichmentCREBBP0.72
1553Autosomal dominant deafness - onychodystrophy syndromeEnrichmentATP6V1B20.72
1554Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeEnrichmentCOL11A10.72
1555Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO60.72
1556Familial progressive hyperpigmentationEnrichmentKITLG0.72
1557Growth retardation-mild developmental delay-chronic hepatitis syndromeEnrichmentSH2B30.72
1558Short sleep, familial natural, 3EnrichmentNPSR10.72
1559DysspondyloenchondromatosisEnrichmentCOL2A10.72
1560Cystic lymphangiomaEnrichmentCOL11A20.72
1561Pleomorphic xanthoastrocytomaEnrichmentTP530.72
1562Rare combined vascular malformationEnrichmentPIK3CA0.72
1563Bleeding diathesis due to thromboxane synthesis deficiencyEnrichmentTBXA2R0.72
1564GangliogliomaEnrichmentBRAF0.72
1565Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF120.72
1566Abdominal aortic aneurysmEnrichmentCOL3A10.72
1567Anemia, congenital dyserythropoietic, type iiib, autosomal recessiveEnrichmentRACGAP10.72
1568Cavernous lymphangiomaEnrichmentPIK3CA0.72
1569Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE10.72
1570Intellectual disability, autosomal dominant 8EnrichmentGRIN10.72
1571Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A0.72
1572Pik3ca-related overgrowth syndromeEnrichmentPIK3CA0.72
1573Cutaneous mastocytomaEnrichmentKIT0.72
1574Nongerminomatous germ cell tumorEnrichmentBRAF0.72
1575Monostotic fibrous dysplasiaEnrichmentGNAS0.72
1576Monosomy 9q22.3EnrichmentPTCH10.72
1577Familial acute necrotizing encephalopathyEnrichmentRANBP20.72
1578Phace syndromeEnrichmentBRAF0.72
1579Neonatal marfan syndromeEnrichmentFBN10.72
1580Gardner syndromeEnrichmentAPC0.72
1581Sall4-related disordersEnrichmentSALL40.72
1582Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP50.72
1583X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA0.72
1584Isolated osteopoikilosisEnrichmentLEMD30.72
1585Typical urticaria pigmentosaEnrichmentKIT0.72
1586Lethal hydranencephaly-diaphragmatic hernia syndromeEnrichmentPLAT0.72
1587Lissencephaly due to lis1 mutationEnrichmentPAFAH1B10.72
1588Gnao1-related disorderEnrichmentGNAO10.72
15895q22 microdeletion syndromeEnrichmentAPC0.72
1590Phakomatosis pigmentokeratoticaEnrichmentHRAS0.72
1591Mef2c-related disorderEnrichmentMEF2C0.72
1592Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeEnrichmentGLI20.72
1593Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR20.72
1594Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A0.72
1595Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN0.72
1596Pash syndromeEnrichmentNCSTN0.72
1597Attenuated familial adenomatous polyposisEnrichmentAPC0.72
1598Huntington's disease-likeEnrichmentPSEN20.72
1599Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC10.72
1600Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A0.72
1601Classic hairy cell leukemiaEnrichmentBRAF0.72
1602Classic pyoderma gangrenosumEnrichmentPTPN60.72
1603Nodular urticaria pigmentosaEnrichmentKIT0.72
1604Premature agingEnrichmentVIM0.72
1605Combined immunodeficiency due to partial rag1 deficiencyEnrichmentRAG10.72
1606Phakomatosis cesiomarmorataEnrichmentGNA110.72
1607Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB100.72
1608Type 2 collagen-related bone disorderEnrichmentCOL2A10.72
1609Intestinal polyposis syndromeEnrichmentSTK110.72
1610Hartsfield-bixler-demyer syndromeEnrichmentFGFR10.72
1611St3gal3-cdgEnrichmentST3GAL30.72
1612Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiencyEnrichmentSH2B10.72
1613Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA0.72
1614Alk-positive large b-cell lymphomaEnrichmentALK0.72
1615Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT0.72
1616Kaposiform hemangioendotheliomaEnrichmentGNA140.72
1617Chondromyxoid fibromaEnrichmentGRM10.72
1618Lama5-related multisystemic syndromeEnrichmentLAMA50.72
1619Telangiectasia macularis eruptiva perstansEnrichmentKIT0.72
1620Acute mast cell leukemiaEnrichmentKIT0.72
1621Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT30.72
1622Mazabraud syndromeEnrichmentGNAS0.72
1623Lethal brain and heart developmental defectsEnrichmentSIRT60.72
1624Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK10.72
1625Eccrine angiomatous hamartomaEnrichmentPIK3CA0.72
1626Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC20.72
1627Orofacial clefting-cardiac anomalies-facial dysmorphism syndromeEnrichmentAMOTL10.72
1628Autosomal dominant combined immunodeficiency due to erbin deficiencyEnrichmentERBIN0.72
1629Congenital generalized hypercontractile muscle stiffness syndromeEnrichmentTPM30.72
1630Dislocation of the hip-dysmorphism syndromeEnrichmentTRIM330.72
1631Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF0.72
1632Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE0.72
1633Non-syndromic unicoronal craniosynostosisEnrichmentFGFR20.72
1634Familial progressive hyper- and hypopigmentationEnrichmentKITLG0.72
1635Tubular renal disease-cardiomyopathy syndromeEnrichmentRRAGD0.72
1636Childhood-onset benign chorea with striatal involvementEnrichmentPDE10A0.72
1637Plaque-form urticaria pigmentosaEnrichmentKIT0.72
1638Interstitial lung disease specific to childhoodEnrichmentFGF100.72
1639Macrodactyly of toeEnrichmentPIK3CA0.72
1640Serous carcinoma of the corpus uteriEnrichmentERBB20.72
1641Neurocutaneous melanocytosisEnrichmentNRAS0.72
1642Bullous diffuse cutaneous mastocytosisEnrichmentKIT0.72
1643Infantile-onset ascending hereditary spastic paralysisEnrichmentALS20.72
1644Zap70-related severe combined immunodeficiencyEnrichmentZAP700.72
1645Microcystic stromal tumorEnrichmentCTNNB10.72
1646Isolated congenital megalocorneaEnrichmentCHRDL10.72
1647Temporomandibular joint anomalyEnrichmentDOCK10.72
1648Gastrointestinal system diseaseEnrichmentRET0.72
1649Polyvalvular heart disease syndromeEnrichmentTAB20.72
1650HypoalphalipoproteinemiaEnrichmentABCA10.72
1651Syndromic congenital sodium diarrheaEnrichmentSPINT20.72
1652Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA20.72
1653Akt2-related familial partial lipodystrophyEnrichmentAKT20.72
1654Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH0.72
1655Hereditary arginine vasopressin deficiencyEnrichmentAVP0.72
1656Malignant astrocytomaEnrichmentPTPN110.72
1657Multiple endocrine neoplasiaEnrichmentRET0.72
1658Retinal hemangioblastomaEnrichmentVHL0.72
1659BlepharospasmEnrichmentDRD50.72
1660Testis seminomaEnrichmentKIT0.72
166146,xy ovotesticular disorder of sex developmentEnrichmentMAMLD10.72
1662HepatoblastomaEnrichmentAPC, CTNNB1, FGFR3, JAG1, TERT, TP530.71
1663Alzheimer disease, familial, 1EnrichmentAPOE, APP, NOS3, PSEN1, VCP0.68
1664Dandy-walker syndromeEnrichmentBRAF, KMT2D, PDGFRB, PPP1CB, TUBA1A0.68
1665Auditory neuropathyEnrichmentDIAPH1, KIF5A, MFN2, NEFL, NOTCH3, RAB9B, TUBB4A0.68
1666Leukemia, acute myeloidEnrichmentFLT3, JAK2, KIT, KRAS, NRAS, PICALM, RUNX1, SH3GL1, TERT, TP530.67
1667Primary ovarian insufficiencyEnrichmentJAK2, KDR, KHDRBS1, LRRC41, MECOM, NOS3, NOTCH2, NR5A2, NTRK1, RICTOR, SGO2, SH2B1, SIRT6, THBS10.66
1668Aortic valve disease 1EnrichmentNOTCH1, SMAD6, SOS1, TAB20.65
1669Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A2, SPARC, WNT10.65
1670Pulmonary hypertension, primary, 1EnrichmentACVRL1, BMPR2, GDF2, SOX170.65
1671Alzheimer's diseaseEnrichmentAPOE, APP, PSEN1, VCP0.65
1672Amelogenesis imperfectaEnrichmentARHGAP6, GPR68, LAMB3, LTBP30.65
1673Chronic kidney diseaseEnrichmentCOL4A4, COL4A5, MKS1, WNT9B0.65
1674Neurofibromatosis, type iEnrichmentGABBR1, NF1, SPRED10.63
1675Cryptorchidism, unilateral or bilateralEnrichmentINSL3, RXFP2, TUBA1A0.63
1676Progressive non-fluent aphasiaEnrichmentPSEN1, TBK1, VCP0.63
1677Junctional epidermolysis bullosaEnrichmentLAMA3, LAMB3, LAMC20.63
1678Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN0.63
1679Behavioral variant of frontotemporal dementiaEnrichmentPSEN1, SQSTM1, VCP0.63
1680Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP2, TRAF60.62
1681Hemifacial hyperplasiaEnrichmentFGFR2, FGFR30.62
1682Moebius syndromeEnrichmentCHN1, PLXND10.62
1683Enchondromatosis, multiple, ollier typeEnrichmentHIF1A, PTH1R0.62
1684Alzheimer disease 2EnrichmentAPOE, NOS30.62
1685Visceral myopathy 1EnrichmentMYH11, MYLK0.62
1686Hemolytic uremic syndrome, atypical 1EnrichmentC3AR1, DGKE0.62
1687Von hippel-lindau syndromeEnrichmentCCND1, VHL0.62
1688Albinism, oculocutaneous, type iiEnrichmentMC1R, PDE6B0.62
1689Coach syndrome 1EnrichmentOFD1, RPGRIP1L0.62
1690Major depressive disorderEnrichmentFKBP5, HTR2A0.62
1691Insulin-like growth factor iEnrichmentIGF1, IGF1R0.62
1692Night blindness, congenital stationary, type 1cEnrichmentGNAT1, GRM60.62
1693Goldberg-shprintzen syndromeEnrichmentFBN1, SKI0.62
1694Familial adenomatous polyposis 1EnrichmentAPC, STK110.62
1695Charcot-marie-tooth disease, axonal, type 2eEnrichmentNEFL, VCP0.62
1696Pre-eclampsiaEnrichmentFLT1, NOS30.62
1697Pervasive developmental disorderEnrichmentFBXW7, SPTBN10.62
1698Congenital ptosisEnrichmentCHD8, MYH100.62
1699Acute myeloid leukemia with maturationEnrichmentFLT3, KIT0.62
1700Myeloproliferative neoplasmEnrichmentCBL, JAK20.62
1701HoloprosencephalyEnrichmentFGF8, FGFR10.62
1702Acute megakaryocytic leukemiaEnrichmentPTEN, TP530.62
1703Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP2, WNT10A0.62
1704Autosomal dominant severe congenital neutropeniaEnrichmentELANE, TCIRG10.62
1705Coloboma of choroid and retinaEnrichmentACTG1, FZD50.62
1706Aggressive systemic mastocytosisEnrichmentCBL, RUNX10.62
1707Diffuse cutaneous systemic sclerosisEnrichmentCAV1, CCR60.62
1708Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RA, CSF2RB0.62
1709Endometrial stromal sarcomaEnrichmentSUZ12, YWHAE0.62
1710Rare pervasive developmental disorderEnrichmentFBXW7, SPTBN10.62
1711Short rib-polydactyly syndrome, verma-naumoff typeEnrichmentDYNC2H1, WDR350.62
1712Familial porencephalyEnrichmentCOL4A1, COL4A20.62
1713Familial cerebral saccular aneurysmEnrichmentCOL3A1, TGFBR30.62
1714Patent foramen ovaleEnrichmentACTC1, FLNA, PSMC3, PTPN11, TAB20.61
1715Congenital stationary night blindnessEnrichmentGNAT1, GNB3, GRM6, PDE6B, RDH5, RHO0.58
1716Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, BCR, FLT3, MYB, MYC, PICALM0.58
1717Type 2 diabetes mellitusEnrichmentAKT2, IL6, INSR, IRS1, IRS2, MTNR1B, PPARG, PTPN1, RBPJ, TCF7L20.58
171846,xy partial gonadal dysgenesisEnrichmentSOS1, SOX9, SRY, WWOX0.57
1719Severe combined immunodeficiencyEnrichmentDOCK8, IKBKB, JAK3, LCK, RAG1, RAG2, STK4, ZAP700.55
1720Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, KIF5A, MFN2, NEFL, VCP0.55
1721Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, DGKE, FN1, ITGA3, LAMA5, LAMB2, TRPC6, TTC21B0.54
1722Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM1, TBK1, VCP0.54
1723Amelogenesis imperfecta, type ieEnrichmentARHGAP6, ITGB6, LAMB30.54
1724Omenn syndromeEnrichmentIL2RG, RAG1, RAG20.54
1725Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R1, TCF30.54
1726Parkinson disease, late-onsetEnrichmentADH1C, EIF4G1, LRRK2, PSAP, TBP, VPS350.53
1727Severe covid-19EnrichmentCASP10, CENPF, DGKE, DOCK8, ITGAV, JAK3, RBCK10.52
1728HydrocephalusEnrichmentCCDC88C, FGFR2, FZD3, PDGFRB0.50
1729Lynch syndromeEnrichmentCFTR, KRAS, PIK3CA, TGFBR20.50
1730Male infertility with spermatogenesis disorderEnrichmentKMT2D, PROK2, PROKR2, SPRED10.50
1731Atrial septal defect 1EnrichmentBMP2, TGFB20.50
1732Dyskeratosis congenita, autosomal dominant 1EnrichmentMECOM, TERT0.50
1733Glaucoma, primary open angleEnrichmentLTBP2, OPTN0.50
1734Li-fraumeni syndromeEnrichmentMDM2, TP530.50
1735Alcohol dependenceEnrichmentADH1C, TAS2R160.50
1736Kabuki syndrome 1EnrichmentKIDINS220, KMT2D0.50
1737Wolf-hirschhorn syndromeEnrichmentCTBP1, LETM10.50
1738Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3000.50
1739Split-hand/foot malformation 1EnrichmentFGFR2, LEF10.50
1740Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B, WDR810.50
1741Holoprosencephaly 1EnrichmentFGF8, FGFR10.50
1742Moyamoya disease 1EnrichmentACTA2, DIAPH10.50
1743Metachromatic leukodystrophyEnrichmentGFAP, PSAP0.50
1744Type 1 diabetes mellitusEnrichmentIL6, INS0.50
1745Renal tubular dysgenesisEnrichmentAGT, AGTR10.50
1746Wiedemann-steiner syndromeEnrichmentSMC1A, SMC30.50
1747Anterior segment dysgenesis 5EnrichmentARHGAP35, COL4A10.50
1748Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3000.50
1749Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK1, TGFB10.50
1750Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A20.50
1751Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR1, STUB10.50
1752Inguinal herniaEnrichmentCOL5A1, FBN10.50
1753Intestinal pseudo-obstructionEnrichmentMYH11, NDE10.50
1754Hereditary spherocytosisEnrichmentSPTA1, SPTB0.50
1755Limited sclerodermaEnrichmentCAV1, CCR60.50
1756Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK1, TGFB10.50
1757Waardenburg syndromeEnrichmentEDNRB, POLR2F0.50
1758Autosomal recessive distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B10.50
1759Autosomal dominant secondary polycythemiaEnrichmentEPAS1, EPO0.50
1760Familial hypercholanemiaEnrichmentTJP2, WDR830.50
1761Kidney clear cell sarcomaEnrichmentTERT, YWHAE0.50
1762Cleft lip with or without cleft palateEnrichmentCTNND1, ESRP20.50
1763Autism spectrum disorderEnrichmentCDC42BPB, CHD8, CSNK2A1, CSNK2B, CUL3, DYNC1H1, EED, GNB1, GRIN2B, MAP2K1, MEF2C, NBEA, NF1, PBX1, PTEN, PTPN11, SMC3, SPEN, TACR3, TCF12, TCF4, TNRC6B, TSC20.50
1764Isolated joubert syndromeEnrichmentARL13B, B9D2, CBY1, MKS1, OFD1, PDE6D, SUFU0.47
1765EpilepsyEnrichmentDIAPH1, GABRA1, GABRB3, GRIN2B, MTR, NBEA, TSHR, TTC21B, WWOX0.47
1766Spinocerebellar ataxia 29EnrichmentITPR10.46
1767Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A10.46
1768Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A10.46
1769Lymphatic malformation 1EnrichmentFLT40.46
1770Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP0.46
1771Amelogenesis imperfecta, type iaEnrichmentLAMB30.46
1772Cafe-au-lait spots, multipleEnrichmentNF10.46
1773Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF10.46
1774Blepharocheilodontic syndrome 1EnrichmentCTNND10.46
1775Peutz-jeghers syndromeEnrichmentSTK110.46
1776Burkitt lymphomaEnrichmentMYC0.46
1777Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H10.46
1778Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A10.46
1779Blue rubber bleb nevusEnrichmentTEK0.46
1780Failure of tooth eruption, primaryEnrichmentPTH1R0.46
1781Cyclic neutropeniaEnrichmentELANE0.46
1782Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A0.46
1783Hypoparathyroidism, familial isolated, 1EnrichmentPTH0.46
1784Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA30.46
1785Acrokeratosis verruciformisEnrichmentATP2A20.46
1786Anemia, congenital dyserythropoietic, type iiiaEnrichmentRACGAP10.46
1787Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB0.46
1788Cylindromatosis, familialEnrichmentCYLD0.46
1789Pseudohypoparathyroidism, type iaEnrichmentGNAS0.46
1790Hypercalciuria, absorptive, 2EnrichmentADCY100.46
1791Myhre syndromeEnrichmentSMAD40.46
1792Campomelic dysplasiaEnrichmentSOX90.46
1793Precocious puberty, male-limitedEnrichmentLHCGR0.46
1794Dentatorubral-pallidoluysian atrophyEnrichmentATN10.46
1795Glucocorticoid deficiency 1EnrichmentMC2R0.46
1796Otodental dysplasiaEnrichmentFGF30.46
1797Scoliosis, isolated 1EnrichmentMAPK70.46
1798Tooth agenesis, selective, 4EnrichmentWNT10A0.46
1799Adrenocortical carcinoma, hereditaryEnrichmentTP530.46
1800Camurati-engelmann disease 1EnrichmentTGFB10.46
1801Aganglionosis, total intestinalEnrichmentEDNRB0.46
1802Metaphyseal chondrodysplasia, jansen typeEnrichmentPTH1R0.46
1803Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP10.46
1804Apolipoprotein c-ii deficiencyEnrichmentAPOC20.46
1805Costello syndromeEnrichmentHRAS0.46
1806Stromme syndromeEnrichmentCENPF0.46
1807Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK10.46
1808Alexander diseaseEnrichmentGFAP0.46
1809Lowry-wood syndromeEnrichmentCLASP10.46
1810Pallister-hall-like syndromeEnrichmentSMO0.46
1811Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF10.46
1812Amelogenesis imperfecta, type igEnrichmentPRKAR1A0.46
1813TrichomegalyEnrichmentFGF50.46
1814Storage pool platelet diseaseEnrichmentRUNX10.46
1815Craniodiaphyseal dysplasiaEnrichmentSOST0.46
1816Tangier diseaseEnrichmentABCA10.46
1817Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA30.46
1818Schopf-schulz-passarge syndromeEnrichmentWNT10A0.46
1819Bruck syndrome 1EnrichmentCOL1A20.46
1820Galactosemia iiEnrichmentNR3C10.46
1821Orofaciodigital syndrome iiEnrichmentINTU0.46
1822Leydig cell hypoplasia, type iEnrichmentLHCGR0.46
1823Chondrodysplasia, blomstrand typeEnrichmentPTH1R0.46
1824Plasminogen deficiency, type iEnrichmentPLG0.46
1825Cutis marmorata telangiectatica congenitaEnrichmentGNA110.46
1826Stiff skin syndromeEnrichmentFBN10.46
1827N-acetylglutamate synthase deficiencyEnrichmentPYY0.46
1828Thumb deformityEnrichmentCREBBP0.46
1829Hyperparathyroidism, neonatal severeEnrichmentCASR0.46
1830Intracranial hypertension, idiopathicEnrichmentFLT40.46
1831Renal tubular acidosis, distal, 2, with progressive sensorineural hearing lossEnrichmentATP6V1B10.46
1832Dihydrolipoamide dehydrogenase deficiencyEnrichmentDLD0.46
1833Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B0.46
1834Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR0.46
1835Spondyloepiphyseal dysplasia tarda, x-linkedEnrichmentOFD10.46
1836Spermatogenic failure, y-linked, 2EnrichmentCFTR0.46
1837Cataract 40EnrichmentNHS0.46
1838Ebstein anomalyEnrichmentCDK80.46
1839Hypogonadotropic hypogonadism 24 with or without anosmiaEnrichmentFSHB0.46
1840Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR20.46
1841Myasthenic syndrome, congenital, 5EnrichmentLAMB20.46
1842Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A0.46
1843Abcd syndromeEnrichmentEDNRB0.46
1844Trichoepithelioma, multiple familial, 1EnrichmentCYLD0.46
1845Otopalatodigital syndrome, type iiEnrichmentFLNA0.46
1846Bladder exstrophy and epispadias complexEnrichmentWNT30.46
1847Brody diseaseEnrichmentATP2A10.46
1848Melnick-needles syndromeEnrichmentFLNA0.46
1849Pulmonary hypoplasia, primaryEnrichmentFGF100.46
1850Ovarian germ cell cancerEnrichmentCBL0.46
1851Carotid intimal medial thickness 1EnrichmentPPARG0.46
1852Cataract 35EnrichmentMYH90.46
1853Cornelia de lange syndrome 2EnrichmentSMC1A0.46
1854West nile virusEnrichmentCCR50.46
1855Frontometaphyseal dysplasia 1EnrichmentFLNA0.46
1856Odontoonychodermal dysplasiaEnrichmentWNT10A0.46
1857Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD0.46
1858Orofaciodigital syndrome iEnrichmentOFD10.46
1859Lethal congenital contracture syndrome 3EnrichmentPIP5K1C0.46
1860Hypertrichosis, congenital generalized, 2EnrichmentSOX30.46
1861Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R50.46
1862Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK0.46
1863Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA0.46
1864Intellectual developmental disorder, x-linked, syndromic, shashi typeEnrichmentRBMX0.46
1865Hyperthyroidism, familial gestationalEnrichmentTSHR0.46
186646,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH0.46
1867Dent disease 2EnrichmentOCRL0.46
1868Eiken syndromeEnrichmentPTH1R0.46
1869Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B0.46
1870Tetraamelia syndrome 1EnrichmentWNT30.46
1871Histiocytoma, angiomatoid fibrousEnrichmentCREB10.46
1872Parkinson disease 8, autosomal dominantEnrichmentLRRK20.46
1873Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP0.46
1874Nephronophthisis 4EnrichmentNPHP40.46
1875Aortic aneurysm, familial thoracic 2EnrichmentACTA20.46
1876Spinocerebellar ataxia 17EnrichmentTBP0.46
1877Nephronophthisis-like nephropathy 1EnrichmentRANGAP10.46
1878Waardenburg syndrome, type 4cEnrichmentPOLR2F0.46
1879PseudopseudohypoparathyroidismEnrichmentGNAS0.46
1880Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA40.46
1881Premature ovarian failure 3EnrichmentAGO20.46
1882Cardiomyopathy, dilated, 1rEnrichmentACTC10.46
1883Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathyEnrichmentMFN20.46
1884MacroglossiaEnrichmentTAOK10.46
1885Schwannomatosis 1EnrichmentNF20.46
1886Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA0.46
1887Pick disease of brainEnrichmentPSEN10.46
1888Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD40.46
1889Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentCUL30.46
1890Bleeding disorder, platelet-type, 8EnrichmentP2RY120.46
1891Microvascular complications of diabetes 5EnrichmentTGFBR20.46
1892Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR0.46
1893Aural atresia, congenitalEnrichmentFGFR20.46
1894Intellectual developmental disorder, autosomal recessive 5EnrichmentSYNGAP10.46
1895Legg-calve-perthes diseaseEnrichmentCOL2A10.46
1896Obsessive-compulsive disorderEnrichmentHTR2A0.46
1897Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM10.46
1898Deafness, autosomal recessive 28EnrichmentTRIO0.46
1899Deafness, autosomal dominant 20EnrichmentACTG10.46
1900Neuropathy, congenital hypomyelinating, 1, autosomal recessiveEnrichmentEGR20.46
1901Complement component c1s deficiencyEnrichmentKMT2D0.46
1902Cardiomyopathy, familial hypertrophic, 11EnrichmentACTC10.46
1903Osteogenesis imperfecta, type xvEnrichmentWNT10.46
1904Smooth muscle dysfunction syndromeEnrichmentACTA20.46
1905Granulomatous disease, chronic, autosomal recessive, 3EnrichmentNCF40.46
1906Melanoma, cutaneous malignant 6EnrichmentKLC10.46
1907Primary lateral sclerosis, juvenileEnrichmentALS20.46
1908Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF30.46
1909Duane-radial ray syndromeEnrichmentSALL40.46
1910Solitary median maxillary central incisorEnrichmentSHH0.46
1911Neutrophilia, hereditaryEnrichmentPIP4K2B0.46
1912Cutis laxa, autosomal recessive, type icEnrichmentLTBP40.46
1913Aortic aneurysm, familial thoracic 6EnrichmentACTA20.46
1914Roifman-chitayat syndromeEnrichmentPIK3CD0.46
1915Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB10.46
1916Fibrodysplasia ossificans progressivaEnrichmentBMPR20.46
1917Baraitser-winter syndrome 2EnrichmentACTG10.46
1918Chromosome 16p11.2 deletion syndrome, 220-kbEnrichmentSH2B10.46
1919Lethal congenital contracture syndrome 8EnrichmentADCY60.46
1920Developmental and epileptic encephalopathy 28EnrichmentWWOX0.46
1921Anemia, hypochromic microcytic, with iron overload 2EnrichmentSTEAP30.46
1922Adams-oliver syndrome 5EnrichmentNOTCH10.46
1923Specific language impairment 5EnrichmentCOL4A40.46
1924Duane retraction syndrome 2EnrichmentCHN10.46
1925Hallermann-streiff syndromeEnrichmentGJA10.46
1926Bleeding disorder, platelet-type, 19EnrichmentPRKACG0.46
1927Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD0.46
1928White-sutton syndromeEnrichmentGLI20.46
1929Pyruvate dehydrogenase e2 deficiencyEnrichmentDLAT0.46
1930Chromosome 5q12 deletion syndromeEnrichmentPDE4D0.46
1931Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT0.46
1932Silver-russell syndrome 3EnrichmentIGF20.46
1933Cholestasis, progressive familial intrahepatic, 4EnrichmentTJP20.46
1934Hypogonadotropic hypogonadism 11 with or without anosmiaEnrichmentTACR30.46
1935Beaulieu-boycott-innes syndromeEnrichmentFBN10.46
1936Growth hormone deficiency, isolated partialEnrichmentGHSR0.46
1937LathosterolosisEnrichmentC50.46
1938Bardet-biedl syndrome 22EnrichmentIFT1720.46
1939Sifrim-hitz-weiss syndromeEnrichmentCHD40.46
1940Retinal dystrophy, juvenile cataracts, and short stature syndromeEnrichmentRDH110.46
1941Maturity-onset diabetes of the young, type 10EnrichmentINS0.46
1942Moyamoya disease 5EnrichmentACTA20.46
1943Night blindness, congenital stationary, type 1hEnrichmentGNB30.46
1944Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A0.46
1945Choanal atresia, posteriorEnrichmentKMT2D0.46
1946Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A0.46
1947Pierson syndromeEnrichmentLAMB20.46
1948Lymphoma, hodgkin, classicEnrichmentTP530.46
1949Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB10.46
1950Nephronophthisis 12EnrichmentTTC21B0.46
1951Leber congenital amaurosis 6EnrichmentMKS10.46
1952Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I20.46
1953Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP30.46
1954Neurodevelopmental disorder with hypotonia, neuropathy, and deafnessEnrichmentSPTBN40.46
1955Thrombocythemia 3EnrichmentJAK20.46
1956Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B0.46
1957Spinocerebellar ataxia 23EnrichmentPDYN0.46
1958Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B0.46
1959Syndactyly, type vEnrichmentGJA10.46
1960Pyruvate dehydrogenase e1-beta deficiencyEnrichmentPDHB0.46
1961Pigmented nodular adrenocortical disease, primary, 2EnrichmentPDE11A0.46
1962Multiple endocrine neoplasia, type ivEnrichmentCDKN1B0.46
1963Neuronopathy, distal hereditary motor, autosomal recessive 4EnrichmentPLEKHG50.46
1964Glycosylphosphatidylinositol biosynthesis defect 11EnrichmentMYO190.46
1965Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentFFAR40.46
1966Spinocerebellar ataxia, autosomal recessive 12EnrichmentWWOX0.46
1967Hypogonadotropic hypogonadism 21 with or without anosmiaEnrichmentFLRT30.46
1968Adams-oliver syndrome 2EnrichmentDOCK60.46
1969Long qt syndrome 14EnrichmentCALM10.46
1970Pyruvate dehydrogenase e3-binding protein deficiencyEnrichmentPDHX0.46
1971Charcot-marie-tooth disease, recessive intermediate cEnrichmentPLEKHG50.46
1972Houge-janssens syndrome 1EnrichmentPPP2R5D0.46
1973Cranioectodermal dysplasia 2EnrichmentWDR350.46
1974Loeys-dietz syndrome 3EnrichmentSMAD30.46
1975Adams-oliver syndrome 3EnrichmentRBPJ0.46
1976Short-rib thoracic dysplasia 4 with or without polydactylyEnrichmentTTC21B0.46
1977Roifman syndromeEnrichmentCLASP10.46
1978Atrial septal defect 5EnrichmentACTC10.46
1979Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H10.46
1980Immunodeficiency 31cEnrichmentSTAT10.46
1981Pain sensitivity quantitative trait locus 1EnrichmentNTRK10.46
1982Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR20.46
1983Developmental and epileptic encephalopathy 15EnrichmentST3GAL30.46
1984Polycystic kidney disease 9EnrichmentIFT1400.46
1985Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A0.46
1986Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A20.46
1987Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B0.46
1988Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM10.46
1989Myopia 28, autosomal recessiveEnrichmentDOK10.46
1990Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A10.46
1991Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC20.46
1992Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC20.46
1993Wrinkly skin syndromeEnrichmentATP6V0A20.46
1994Gabriele-de vries syndromeEnrichmentYY10.46
1995Waardenburg syndrome, type 2fEnrichmentKITLG0.46
1996Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT50.46
1997Intellectual developmental disorder, autosomal dominant 65EnrichmentKDM4B0.46
1998Stickler syndrome, type viEnrichmentCOL9A30.46
1999HyperproinsulinemiaEnrichmentINS0.46
2000Fibromuscular dysplasia, multifocalEnrichmentCOL5A10.46
2001Blepharocheilodontic syndrome 2EnrichmentCTNND10.46
2002Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC40.46
2003Hypomagnesemia 7, renal, with or without dilated cardiomyopathyEnrichmentRRAGD0.46
2004Dystonia 30EnrichmentPTPRA0.46
2005Agammaglobulinemia, x-linkedEnrichmentBTK0.46
2006Developmental and epileptic encephalopathy 93EnrichmentATP6V1A0.46
2007Joubert syndrome 10EnrichmentOFD10.46
2008Deafness, autosomal recessive 109EnrichmentESRP10.46
2009Intellectual developmental disorder, x-linked 90EnrichmentDLG30.46
2010Neuropathy, congenital hypomyelinating, 2EnrichmentRHO0.46
2011Congenital heart defects and skeletal malformations syndromeEnrichmentABL10.46
2012Neutropenia, severe congenital, 10, autosomal recessiveEnrichmentGALR20.46
2013Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA30.46
2014Immunodeficiency, common variable, 15EnrichmentRUVBL10.46
2015Snijders blok-campeau syndromeEnrichmentCHD30.46
2016Birk-aharoni syndromeEnrichmentPSMC10.46
2017Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP10.46
2018Cardiac valvular dysplasia, x-linkedEnrichmentFLNA0.46
2019Sjogren-larsson syndromeEnrichmentALDH3A20.46
2020Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO10.46
2021Werner syndromeEnrichmentPTPN110.46
2022Spondyloepiphyseal dysplasia, nishimura typeEnrichmentWWP20.46
2023Androgen insensitivity syndromeEnrichmentAR0.46
2024Noonan syndrome 12EnrichmentRRAS20.46
2025Cerebellar, ocular, craniofacial, and genital syndromeEnrichmentNBEA0.46
2026Spinocerebellar ataxia 48EnrichmentSTUB10.46
2027Sitosterolemia 2EnrichmentABCG50.46
2028Spastic paraplegia 70, autosomal recessiveEnrichmentARHGAP90.46
2029Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B0.46
2030Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL10.46
2031Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA0.46
2032Immunodeficiency 66EnrichmentMRTFA0.46
2033Osteopetrosis, autosomal recessive 1EnrichmentTCIRG10.46
2034Cebalid syndromeEnrichmentMTOR0.46
2035Keratoconus 9EnrichmentTUBA3D0.46
2036Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentTAOK10.46
2037Menke-hennekam syndrome 2EnrichmentEP3000.46
2038Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF10.46
2039Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A10.46
2040Usher syndrome, type ivEnrichmentPRKAR1A0.46
2041Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB10.46
2042Frontotemporal dementia and/or amyotrophic lateral sclerosis 8EnrichmentCYLD0.46
2043Hyperlipoproteinemia, type iiiEnrichmentAPOE0.46
2044Congenital heart defects, multiple types, 9EnrichmentPLXND10.46
2045Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB40.46
2046Pulmonary venoocclusive disease 1EnrichmentBMPR20.46
2047Intravascular large b-cell lymphomaEnrichmentBCL20.46
2048Brooke-spiegler syndromeEnrichmentCYLD0.46
2049Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB20.46
2050Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A0.46
2051Tibial hemimeliaEnrichmentGLI30.46
2052SclerosteosisEnrichmentSOST0.46
2053Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA30.46
2054Hypospadias 1, x-linkedEnrichmentAR0.46
2055Wilson-turner syndromeEnrichmentHDAC80.46
2056Neurodevelopmental disorder with variable familial hypercholanemiaEnrichmentWDR830.46
2057Left ventricular noncompaction 7EnrichmentMIB10.46
2058Microphthalmia, isolated 8EnrichmentALDH1A30.46
2059Cranioectodermal dysplasia 5EnrichmentIFT1400.46
2060Rhabdoid tumor predisposition syndromeEnrichmentSMARCA40.46
2061Craniometaphyseal dysplasiaEnrichmentGJA10.46
2062Stevens-johnson syndromeEnrichmentIKZF10.46
2063Polyhydramnios, megalencephaly, and symptomatic epilepsyEnrichmentSTRADA0.46
2064Rela fusion-positive ependymomaEnrichmentRELA0.46
2065Bilateral generalized polymicrogyriaEnrichmentGRIN10.46
2066Lissencephaly 3EnrichmentTUBA1A0.46
2067Combined saposin deficiencyEnrichmentPSAP0.46
2068Townes-brocks syndromeEnrichmentDACT10.46
2069Delayed puberty, self-limitedEnrichmentLGR40.46
2070Acromesomelic dysplasia 4EnrichmentPRKG20.46
2071Acute basophilic leukemiaEnrichmentMYB0.46
2072Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN10.46
2073Familial apolipoprotein c-ii deficiencyEnrichmentAPOC20.46
2074Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H10.46
2075Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP0.46
2076Senior-loken syndrome 7EnrichmentAKT30.46
2077Spondyloepiphyseal dysplasia tardaEnrichmentOFD10.46
2078Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT10.46
2079Developmental and epileptic encephalopathy 46EnrichmentGRIN2D0.46
2080SynpolydactylyEnrichmentGLI30.46
2081Cleidocranial dysplasia 2EnrichmentCBFB0.46
2082Syndromic x-linked intellectual disabilityEnrichmentNHS0.46
2083Cataract 30EnrichmentVIM0.46
2084Syndromic x-linked intellectual disability shashi typeEnrichmentRBMX0.46
2085Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractEnrichmentABHD120.46
2086Lipodystrophy, familial partial, type 1EnrichmentNOTCH30.46
2087Erythrocytosis, familial, 3EnrichmentEPAS10.46
2088Optic disk drusenEnrichmentRHO0.46
2089Osteogenesis imperfecta, type xviiEnrichmentSPARC0.46
2090Renal tubular acidosisEnrichmentATP6V1B10.46
2091Zaki syndromeEnrichmentWLS0.46
2092Vulto-van silfhout-de vries syndromeEnrichmentDLG40.46
2093Congenital disorder of glycosylation, type iioEnrichmentVMA220.46
2094Bardet-biedl syndrome 13EnrichmentMKS10.46
2095Depressive disorderEnrichmentNOTCH30.46
2096Short-rib thoracic dysplasia 15 with polydactylyEnrichmentABCG50.46
2097Papillary renal cell carcinomaEnrichmentMET0.46
2098Congenital mesoblastic nephromaEnrichmentNTRK30.46
2099Chromosome 16p11.2 deletion syndrome, 593-kbEnrichmentSH2B10.46
2100Camurati-engelmann diseaseEnrichmentTGFB10.46
2101GlomerulonephritisEnrichmentCOL4A40.46
2102Metaphyseal anadysplasia 2EnrichmentMMP90.46
2103Li-fraumeni syndrome 1EnrichmentTP530.46
2104Severe congenital neutropenia 7EnrichmentPIP4K2B0.46
2105SarcomaEnrichmentTP530.46
2106OsteopoikilosisEnrichmentLEMD30.46
2107Witteveen-kolk syndromeEnrichmentSIN3A0.46
2108Congenital dyserythropoietic anemiaEnrichmentIRAK40.46
2109Ocular melanomaEnrichmentPLCB40.46
2110Lymphatic malformation 8EnrichmentCALCRL0.46
2111Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F0.46
2112Diabetes mellitus, permanent neonatal, 4EnrichmentINS0.46
2113Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM170.46
2114Congenital hemolytic anemiaEnrichmentSPTA10.46
2115Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK10.46
2116Angiocentric gliomaEnrichmentMYB0.46
2117Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB30.46
2118Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H10.46
2119Nephrotic syndrome, type 7EnrichmentDGKE0.46
2120Amyotrophic lateral sclerosis 12 with or without frontotemporal dementiaEnrichmentOPTN0.46
2121Steel syndromeEnrichmentCOL27A10.46
2122Congenital heart defects, multiple types, 2EnrichmentTAB20.46
2123Hereditary angioedemaEnrichmentPLG0.46
2124Developmental and epileptic encephalopathy 78EnrichmentYY10.46
2125Bardet-biedl syndrome 9EnrichmentNF10.46
2126Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC50.46
2127Familial avascular necrosis of the femoral headEnrichmentCOL2A10.46
2128Megalencephaly-polydactyly syndromeEnrichmentMYCN0.46
2129Neuromuscular disorder, congenital, with dysmorphic faciesEnrichmentFILIP10.46
2130Melanoma, cutaneous malignant 9EnrichmentTERT0.46
2131Otosclerosis 12EnrichmentSMARCA40.46
2132Coffin-siris syndrome 4EnrichmentSMARCA40.46
2133Periampullary adenomaEnrichmentAPC0.46
2134Axonal neuropathyEnrichmentMFN20.46
2135Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC0.46
2136Pseudosarcomatous fibromatosisEnrichmentMYH90.46
2137Hodgkin's lymphomaEnrichmentTP530.46
2138Aortic valve disease 2EnrichmentSMAD60.46
2139FibrosarcomaEnrichmentNTRK30.46
2140Autosomal dominant primary microcephalyEnrichmentLMNB10.46
2141Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B0.46
2142Bardet-biedl syndrome 16EnrichmentAKT30.46
2143Degenerative disc diseaseEnrichmentCENPP0.46
2144HypopituitarismEnrichmentGNAI20.46
2145Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA30.46
2146Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT0.46
2147Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsEnrichmentHNRNPH10.46
2148Hao-fountain syndromeEnrichmentUSP70.46
2149Chromosome 2p16.1-p15 deletion syndromeEnrichmentUSP340.46
2150BradyopsiaEnrichmentRGS90.46
2151Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB50.46
2152Proximal symphalangismEnrichmentNOG0.46
2153Amyotrophic lateral sclerosis type 12EnrichmentOPTN0.46
2154Rnu4atac-opathyEnrichmentCLASP10.46
2155Smith-kingsmore syndromeEnrichmentMTOR0.46
215614q11.2 microduplication syndromeEnrichmentCHD80.46
2157Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA30.46
2158Hereditary lymphedema iEnrichmentFLT40.46
2159Idiopathic interstitial pneumoniaEnrichmentTERT0.46
2160Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG0.46
2161Joubert syndrome 28EnrichmentMKS10.46
2162Immunodeficiency 57 with autoinflammationEnrichmentRIPK10.46
2163PolycythemiaEnrichmentJAK20.46
2164Chronic atrial and intestinal dysrhythmiaEnrichmentSGO10.46
216517q24.2 microdeletion syndromeEnrichmentPSMD120.46
2166Combined psap deficiencyEnrichmentPSAP0.46
2167Immunodeficiency 52EnrichmentLAT0.46
2168Disorders of intracellular cobalamin metabolismEnrichmentMTR0.46
2169Diamond-blackfan anemia 17EnrichmentRPS270.46
2170Acute myeloid leukemia without maturationEnrichmentFLT30.46
2171Torsion dystonia 4EnrichmentTUBB4A0.46
2172Hereditary mixed polyposis syndromeEnrichmentBMPR1A0.46
2173Aarskog syndromeEnrichmentFGD10.46
2174Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL90.46
2175Houge-janssens syndrome 3EnrichmentPPP2CA0.46
2176Interfrontal craniofaciosynostosisEnrichmentFGFR10.46
2177Cataract 48EnrichmentDNMBP0.46
2178Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB10.46
2179Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK80.46
2180Metaphyseal anadysplasiaEnrichmentMMP90.46
2181Isolated anencephalyEnrichmentVANGL20.46
2182Basal cell nevus syndrome 2EnrichmentSUFU0.46
2183Childhood-onset epilepsy syndromeEnrichmentATP6V0C0.46
2184Leydig cell hypoplasia type iiEnrichmentLHCGR0.46
2185Lymphomatoid papulosisEnrichmentTYK20.46
2186Combined deficiency of factor v and factor viiiEnrichmentLMAN10.46
2187Demyelinating polyneuropathyEnrichmentKIF5A0.46
2188Progressive retinal dystrophy due to retinol transport defectEnrichmentFFAR40.46
2189Long-olsen-distelmaier syndromeEnrichmentRRAGC0.46
2190Crohn's diseaseEnrichmentFMNL20.46
2191Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD190.46
2192Familial partial lipodystrophyEnrichmentPPARG0.46
219312q14 microdeletion syndromeEnrichmentLEMD30.46
2194Chronic eosinophilic leukemiaEnrichmentPDGFRA0.46
2195CaddsEnrichmentBCAP310.46
2196Vacterl with hydrocephalusEnrichmentPTEN0.46
2197Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF10.46
2198ArthritisEnrichmentSYK0.46
2199Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS0.46
2200Hypereosinophilic syndromeEnrichmentJAK20.46
2201Immunodeficiency 133EnrichmentARPC50.46
2202X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMAMLD10.46
2203Acute leukemia of ambiguous lineageEnrichmentVHL0.46
2204Malignant germ cell tumor of ovaryEnrichmentCBL0.46
2205Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaEnrichmentSEL1L0.46
2206Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB20.46
2207Dentinogenesis imperfectaEnrichmentCOL1A20.46
2208Qualitative or quantitative defects of caveolin-3EnrichmentOXTR0.46
2209Pulmonary venoocclusive diseaseEnrichmentBMPR20.46
2210TeratomaEnrichmentCTNNB10.46
2211Primary mediastinal large b-cell lymphomaEnrichmentXPO10.46
2212B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA0.46
2213OsteosclerosisEnrichmentLRP50.46
2214Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentMECOM0.46
2215Familial retinoblastomaEnrichmentMYCN0.46
2216Renal hypoplasia, bilateralEnrichmentPBX10.46
2217Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT30.46
2218Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT30.46
2219B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT0.46
2220Isolated exencephalyEnrichmentVANGL20.46
2221B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF30.46
2222Common variable immunodeficiency 12EnrichmentNFKB10.46
2223Skeletal muscle diseaseEnrichmentKIF5B0.46
2224Isolated radial hemimeliaEnrichmentSHH0.46
2225Commissural facial cleftEnrichmentPTCH20.46
2226Lens subluxationEnrichmentFBN10.46
2227Null pituitary adenomaEnrichmentMEN10.46
2228Malignant peripheral nerve sheath tumor with perineurial differentiationEnrichmentSH3PXD2A0.46
2229Acute necrotizing encephalopathy of childhoodEnrichmentRANBP20.46
2230Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF20.46
2231Hemolytic-uremic syndromeEnrichmentDGKE0.46
2232Silent pituitary adenomaEnrichmentMEN10.46
2233Continuous spikes and waves during sleepEnrichmentTUBA1A0.46
2234X-linked emery-dreifuss muscular dystrophyEnrichmentEMD0.46
2235X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A50.46
2236Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR20.46
2237Laron syndrome with immunodeficiencyEnrichmentSTAT5B0.46
2238Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK20.46
2239Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)EnrichmentMRTFA0.46
2240Cerebral visual impairmentEnrichmentGNB10.46
2241Submucosal cleft palateEnrichmentUBB0.46
2242Campomelic dysplasia and related disordersEnrichmentSOX90.46
2243Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeEnrichmentMECOM0.46
2244Cleft hard palateEnrichmentUBB0.46
2245Wooly hair nevusEnrichmentHRAS0.46
2246GigantismEnrichmentMEN10.46
2247Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 geneEnrichmentIFT1400.46
2248Multiple system atrophy, cerebellar typeEnrichmentMFN20.46
2249Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF20.46
2250Malignant triton tumorEnrichmentSH3PXD2A0.46
2251Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosisEnrichmentRBCK10.46
2252Migraine with or without aura 1EnrichmentESR1, NOTCH3, TAB20.46
2253Orofaciodigital syndrome viEnrichmentKIF7, OFD1, PDE6D0.46
2254Leukemia, acute lymphoblasticEnrichmentFLT3, GNB1, IKZF10.46
2255Hydrocephalus, congenital, 1EnrichmentCCDC88C, CDK8, KIF7, OFD10.44
2256HypertensionEnrichmentCOL4A4, COL4A5, MEN1, MYH90.44
2257Tetralogy of fallotEnrichmentFLT4, HEY2, JAG1, KDR, NOTCH1, RET0.43
2258Non-immune hydrops fetalisEnrichmentCALCRL, FLT4, FZD6, HRAS, KRAS, PTPN11, RIT10.43
2259Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A20.40
2260Fundus albipunctatusEnrichmentRDH5, RHO0.40
2261Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK0.40
2262Thrombophilia due to thrombin defectEnrichmentF2, FGA0.40
2263Rett syndromeEnrichmentGABBR2, RHOBTB20.40
2264Coats diseaseEnrichmentFZD4, RHO0.40
2265Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B0.40
2266Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB30.40
2267Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK10.40
2268Dyskeratosis congenita, autosomal dominant 2EnrichmentMECOM, TERT0.40
2269BrachydactylyEnrichmentGNAS, IQCE0.40
2270Renal cell carcinoma with mit translocationsEnrichmentCLTC, SFPQ0.40
2271Motor neuron diseaseEnrichmentOPTN, TBK10.40
2272Common variable immunodeficiencyEnrichmentNFKB1, RAG20.40
2273Hemolytic anemiaEnrichmentSPTA1, SPTB0.40
2274Congenital hydrocephalusEnrichmentCCDC88C, PTCH10.40
2275Moyamoya angiopathyEnrichmentABL1, ARHGEF250.40
2276Primary autosomal recessive microcephalyEnrichmentANKLE2, CENPE, CIT, KIF14, KNL1, NUP37, PHC10.39
2277Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP6, RUVBL10.39
2278Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP6, RUVBL10.39
2279MicrophthalmiaEnrichmentALDH1A3, PTCH1, RARB, SOX2, WNT7B0.39
2280Diaphragmatic hernia, congenitalEnrichmentCDK8, FBN1, GLI30.34
2281Senior-loken syndrome 1EnrichmentNPHP4, TTC21B, WDR190.34
2282Chromosome 1p36 deletion syndromeEnrichmentPRKCZ, SKI, SPEN0.34
2283Stereotypic movement disorderEnrichmentDNM1, SYNGAP1, TCF40.34
2284Protein-deficiency anemiaEnrichmentNRAS, SPTA1, SPTB0.34
2285Hereditary breast carcinomaEnrichmentAKT1, APC, CDC73, ESR1, KRAS, PIK3CA, PTEN, RET, TP530.34
2286Gastroesophageal refluxEnrichmentCOL5A1, RPS6KA30.33
2287Narcolepsy 1EnrichmentHCRT, P2RY110.33
2288Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB0.33
2289Polycystic kidney disease 4 with or without polycystic liver diseaseEnrichmentDYNC2H1, SHOC20.33
2290Immunodeficiency 47EnrichmentATP6AP1, VMA220.33
2291Ewing sarcomaEnrichmentETV4, NF10.33
2292Rett syndrome, congenital variantEnrichmentGABBR2, SMC1A0.33
2293CryptorchidismEnrichmentINSL3, TUBA1A0.33
2294HypothyroidismEnrichmentGNB1, RET0.33
2295Homozygous familial hypercholesterolemiaEnrichmentABCG5, ABCG80.33
2296Permanent neonatal diabetes mellitusEnrichmentINS, STAT30.33
2297Hypoplastic left heart syndromeEnrichmentGJA1, NOTCH10.33
2298Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK30.33
2299Darier-white diseaseEnrichmentATP2A20.33
2300Contractural arachnodactyly, congenitalEnrichmentFBN10.33
2301Brachydactyly, type cEnrichmentBMPR1B0.33
2302Type 1 diabetes mellitus 2EnrichmentINS0.33
2303Night blindness, congenital stationary, autosomal dominant 2EnrichmentPDE6B0.33
2304Craniometaphyseal dysplasia, autosomal dominantEnrichmentOTULIN0.33
2305Zimmermann-laband syndrome 1EnrichmentATP6V1B20.33
2306Hyperalphalipoproteinemia 1EnrichmentCETP0.33
2307Pelvic organ prolapseEnrichmentTAB20.33
2308Retinal arteries, tortuosity ofEnrichmentCOL4A10.33
2309Larsen syndromeEnrichmentFGFR30.33
2310RetinoblastomaEnrichmentMYCN0.33
2311Angioedema, hereditary, 1EnrichmentPLG0.33
2312Klippel-feil syndrome 1, autosomal dominantEnrichmentLRRK20.33
2313Pseudohypoaldosteronism, type iiaEnrichmentCUL30.33
2314Ataxia-telangiectasiaEnrichmentBRAF0.33
2315Waardenburg syndrome, type 2aEnrichmentPOLR2F0.33
2316Exfoliation syndromeEnrichmentLTBP20.33
2317Arterial tortuosity syndromeEnrichmentFLNA0.33
2318ChoreoacanthocytosisEnrichmentTCIRG10.33
2319Cutis laxa, autosomal recessive, type iiaEnrichmentATP6V0A20.33
2320Acromesomelic dysplasia 2aEnrichmentBMPR1B0.33
2321Thrombocythemia 1EnrichmentSH2B30.33
2322Hypophosphatemic rickets, autosomal dominantEnrichmentFGF230.33
2323Acromesomelic dysplasia 2cEnrichmentBMPR1B0.33
2324Glycogen storage disease ivEnrichmentRBCK10.33
2325Maple syrup urine disease, type iaEnrichmentDBT0.33
2326Homocystinuria-megaloblastic anemia, cblg typeEnrichmentMTR0.33
2327Asthma, nasal polyps, and aspirin intoleranceEnrichmentPTGER20.33
2328Acromesomelic dysplasia 2bEnrichmentBMPR1B0.33
2329Immune thrombocytopeniaEnrichmentSOCS10.33
2330DysosteosclerosisEnrichmentTCIRG10.33
2331Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasiaEnrichmentCYBA0.33
2332Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB40.33
2333Gillespie syndromeEnrichmentITPR10.33
2334Nail disorder, nonsyndromic congenital, 4EnrichmentRSPO40.33
2335Hypophosphatasia, infantileEnrichmentCOL11A20.33
2336Hyper-ige syndrome 2, autosomal recessive, with recurrent infectionsEnrichmentDOCK80.33
2337Polycythemia veraEnrichmentJAK20.33
2338Pompe disease, infantile-onsetEnrichmentPIK3CA0.33
2339Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL0.33
2340Mycosis fungoidesEnrichmentCD280.33
2341Syndactyly, type ivEnrichmentSHH0.33
2342Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentZDHHC90.33
2343Uvula, bifidEnrichmentUBB0.33
2344Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT0.33
2345Watson syndromeEnrichmentNF10.33
2346Pelizaeus-merzbacher diseaseEnrichmentRAB9B0.33
2347Simpson-golabi-behmel syndrome, type 1EnrichmentOFD10.33
2348Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentSPINT20.33
2349Night blindness, congenital stationary, type 1bEnrichmentGRM60.33
2350Pituitary hormone deficiency, combined, 2EnrichmentSOX30.33
2351Factor v and factor viii, combined deficiency of, 1EnrichmentLMAN10.33
2352Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF10.33
2353Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT40.33
2354Hirschsprung disease 2EnrichmentEDNRB0.33
2355Microphthalmia, syndromic 9EnrichmentWNT7B0.33
2356Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC20.33
2357Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX10.33
2358Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B0.33
2359Band heterotopiaEnrichmentPAFAH1B10.33
2360Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentFGD10.33
2361Pierpont syndromeEnrichmentTBL1XR10.33
2362Severe combined immunodeficiency, x-linkedEnrichmentIL2RG0.33
2363Heart defects, congenital, and other congenital anomaliesEnrichmentDLG40.33
2364Tooth agenesis, selective, 2EnrichmentWNT10A0.33
2365Spinocerebellar ataxia 4EnrichmentPLEKHG40.33
2366Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK0.33
2367Stuve-wiedemann syndrome 1EnrichmentIL6ST0.33
2368Osteopetrosis, autosomal dominant 1EnrichmentLRP50.33
2369Glomerulopathy with fibronectin deposits 2EnrichmentFN10.33
2370Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC0.33
2371Nephronophthisis 2EnrichmentTTC21B0.33
2372Muscular dystrophy, duchenne typeEnrichmentLTBP40.33
2373Myopathy, centronuclear, x-linkedEnrichmentDNM20.33
2374Spastic paraplegia 2, x-linkedEnrichmentRAB9B0.33
2375Rippling muscle disease 2EnrichmentOXTR0.33
2376Osteogenic sarcomaEnrichmentTP530.33
2377Combined immunodeficiency, x-linkedEnrichmentIL2RG0.33
2378Neuropathy, hereditary motor and sensory, type via, with optic atrophyEnrichmentMFN20.33
2379Hyperthyroidism, nonautoimmuneEnrichmentTSHR0.33
2380Cleft soft palateEnrichmentUBB0.33
2381Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA20.33
2382Long qt syndrome 9EnrichmentOXTR0.33
2383Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A0.33
2384Hepatitis c virusEnrichmentCCR50.33
2385Intellectual developmental disorder, autosomal dominant 5EnrichmentSYNGAP10.33
2386Glaucoma, normal tensionEnrichmentOPTN0.33
2387Neurofibromatosis, familial spinalEnrichmentNF10.33
2388Epidermolysis bullosa, lethal acantholyticEnrichmentJUP0.33
2389Chromosome 5q14.3 deletion syndrome, distalEnrichmentNEDD4L0.33
2390Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB10.33
2391Aortic aneurysm, familial thoracic 7EnrichmentMYLK0.33
2392Congenital short bowel syndromeEnrichmentFLNA0.33
2393Holoprosencephaly 7EnrichmentPTCH10.33
2394Caffey diseaseEnrichmentCOL1A10.33
2395Neutrophilic dermatosis, acute febrileEnrichmentPTPN60.33
2396Tuberous sclerosis 2EnrichmentTSC20.33
2397Brain small vessel disease 2EnrichmentCOL4A20.33
2398Pituitary adenoma 1, multiple typesEnrichmentMEN10.33
2399Cenani-lenz syndactyly syndromeEnrichmentAPC0.33
2400Myopathy, distal, tateyama typeEnrichmentOXTR0.33
2401Woolly hair, autosomal recessive 3EnrichmentLPAR60.33
2402Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF10.33
2403Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.33
2404Polycystic kidney disease 2 with or without polycystic liver diseaseEnrichmentFAM13A0.33
2405Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR0.33
2406Lipodystrophy, familial partial, type 4EnrichmentPLIN10.33
2407Retinitis pigmentosa 40EnrichmentPDE6B0.33
2408Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN10.33
2409Neuropathy, hereditary sensory, type ieEnrichmentDNMT10.33
2410Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiencyEnrichmentDST0.33
2411Epilepsy, progressive myoclonic, 1bEnrichmentPRICKLE10.33
2412Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB80.33
2413Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN10.33
2414Anus, imperforateEnrichmentCTNNB10.33
2415Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL10.33
2416Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS10.33
2417Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A10.33
2418Tremor, hereditary essential, 6EnrichmentNOTCH2NLC0.33
2419Nizon-isidor syndromeEnrichmentP2RY120.33
2420Myopathy, autosomal recessive, with rigid spine and distal joint contracturesEnrichmentTOR1AIP10.33
2421Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A0.33
2422Exudative vitreoretinopathy 7EnrichmentCTNNB10.33
2423Hypothyroidism, congenital, nongoitrous, 1EnrichmentTSHR0.33
2424Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC0.33
2425Orofaciodigital syndrome xviiEnrichmentINTU0.33
2426Developmental and epileptic encephalopathy 31bEnrichmentDNM10.33
2427Hyper-ige syndrome 3, autosomal recessive, with recurrent infectionsEnrichmentDOCK80.33
2428Hypoalphalipoproteinemia, primary, 2EnrichmentABCA10.33
2429Short-rib thoracic dysplasia 20 with polydactylyEnrichmentINTU0.33
2430Hypotrichosis 8EnrichmentLPAR60.33
2431Developmental and epileptic encephalopathy 65EnrichmentCYFIP20.33
2432Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A30.33
2433Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1EnrichmentARL20.33
2434Ehlers-danlos syndrome, classic-like, 3EnrichmentTHBS20.33
2435Agammaglobulinemia 1EnrichmentBTK0.33
2436Dent diseaseEnrichmentOCRL0.33
2437Distal myopathyEnrichmentHNRNPA10.33
2438Bacteremia 2EnrichmentMAPKAPK30.33
2439Umbilical herniaEnrichmentGLI30.33
2440Autosomal recessive cutis laxa type iEnrichmentLTBP10.33
2441Intellectual developmental disorder, autosomal dominant 62EnrichmentDLG40.33
2442Hyper ige syndromeEnrichmentSTAT30.33
2443Wieacker-wolff syndromeEnrichmentRASA10.33
2444Osteopetrosis, autosomal recessive 6EnrichmentTCIRG10.33
2445Polycystic kidney disease 4EnrichmentSHOC20.33
2446Hydrolethalus syndromeEnrichmentKIF70.33
2447Poretti-boltshauser syndromeEnrichmentLAMA10.33
2448Polycystic kidney disease 2EnrichmentFAM13A0.33
2449Proteosome-associated autoinflammatory syndromeEnrichmentPSMB40.33
2450Intellectual developmental disorder, autosomal dominant 44, with microcephalyEnrichmentTRIO0.33
2451Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizuresEnrichmentDLG40.33
2452Isolated ectopia lentisEnrichmentFBN10.33
2453Intrinsic cardiomyopathyEnrichmentACTN20.33
2454Isolated growth hormone deficiency, type ibEnrichmentGHRHR0.33
2455Interstitial lung diseaseEnrichmentTERT0.33
2456Nail diseaseEnrichmentFZD60.33
2457Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A10.33
2458Atypical teratoid rhabdoid tumorEnrichmentTP530.33
2459Polydactyly, postaxial, type a7EnrichmentIQCE0.33
2460Retinitis pigmentosa 80EnrichmentIFT1400.33
2461Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentPLEKHG20.33
2462Anaplastic astrocytomaEnrichmentTP530.33
2463Xanthinuria, type iiEnrichmentTSC20.33
2464Gingival overgrowthEnrichmentRET0.33
2465Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH0.33
2466Macrocytic anemiaEnrichmentTERT0.33
2467T-cell acute lymphoblastic leukemiaEnrichmentABL10.33
2468AdenocarcinomaEnrichmentTP530.33
2469Intraocular pressure quantitative trait locusEnrichmentCREBBP0.33
2470Gonadal dysgenesisEnrichmentFSHR0.33
2471Hematuria, benign familial, 2EnrichmentCOL4A30.33
2472Familial vesicoureteral refluxEnrichmentSOX170.33
2473Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR10.33
2474Nephrogenic diabetes insipidusEnrichmentAVPR20.33
2475Charcot-marie-tooth disease type 1EnrichmentEGR20.33
2476Brain cancerEnrichmentNF10.33
2477End stage renal diseaseEnrichmentGATA30.33
2478Laryngeal squamous cell carcinomaEnrichmentPTEN0.33
2479Bone osteosarcomaEnrichmentTP530.33
2480Desmoplastic/nodular medulloblastomaEnrichmentSUFU0.33
2481Growth hormone secreting pituitary adenomaEnrichmentMEN10.33
2482Dlg4-related synaptopathyEnrichmentDLG40.33
2483Adenoid cystic carcinomaEnrichmentMYB0.33
2484Lessel-kreienkamp syndromeEnrichmentAGO20.33
2485Aip familial isolated pituitary adenomasEnrichmentMEN10.33
2486Butterfly-shaped pigment dystrophyEnrichmentCTNNA10.33
2487Chung-jansen syndromeEnrichmentPHIP0.33
2488Occipital encephaloceleEnrichmentDACT10.33
2489Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R0.33
2490Colon adenocarcinomaEnrichmentAPC0.33
2491Bleeding disorder, platelet-type, 24EnrichmentITGB30.33
2492Autoimmune polyendocrine syndrome type 1EnrichmentCYBA0.33
2493Cole-carpenter syndromeEnrichmentP4HB0.33
2494Syndromic x-linked intellectual disability claes-jensen typeEnrichmentFGD10.33
2495Pelizeaus-merzbacher spectrum disorderEnrichmentRAB9B0.33
2496Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK10.33
2497Aggressive periodontitisEnrichmentFPR10.33
2498Isolated anophthalmia-microphthalmia syndromeEnrichmentALDH1A30.33
2499Cap myopathyEnrichmentTPM30.33
2500HomocystinuriaEnrichmentMTR0.33
2501Spindle cell sarcomaEnrichmentNF20.33
2502Mixed phenotype acute leukemia with tEnrichmentFLT30.33
2503Familial hyperthyroidism due to mutations in tsh receptorEnrichmentTSHR0.33
2504Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX10.33
2505Genetic atypical hemolytic-uremic syndromeEnrichmentC30.33
2506Alopecia - intellectual disability syndromeEnrichmentITGB60.33
2507Renal cell carcinomaEnrichmentMET0.33
2508EnchondromatosisEnrichmentHIF1A0.33
2509Multiple epiphyseal dysplasiaEnrichmentCOL2A10.33
2510Thyroid hemiagenesisEnrichmentPSMD30.33
2511Stüve-wiedemann syndromeEnrichmentIL6ST0.33
2512Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY60.33
2513Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF20.33
2514Cerebral sinovenous thrombosisEnrichmentF20.33
2515TyrosinemiaEnrichmentALS20.33
2516Intermittent maple syrup urine diseaseEnrichmentDBT0.33
2517Atp6v0a2-related cutis laxaEnrichmentATP6V0A20.33
2518Mpv17-related mitochondrial dna maintenance defectEnrichmentUCN0.33
2519Classic maple syrup urine diseaseEnrichmentDBT0.33
2520Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC0.33
2521Lama2-related muscular dystrophyEnrichmentLAMA20.33
2522Saczary syndromeEnrichmentCD280.33
2523CakutEnrichmentACTG1, COL4A1, ETV4, GATA3, NPHP4, NRIP1, SRGAP10.33
2524Joubert syndrome 1EnrichmentARL13B, B9D2, CBY1, IFT172, KIF14, MKS1, NPHP4, OFD1, RCOR1, RPGRIP1L0.32
2525MyopathyEnrichmentCOL6A1, COL6A2, COL6A3, DNM2, DYNC1H1, EMD, FBN1, TPM30.30
2526Parkinson's diseaseEnrichmentLRRK2, PSAP, TBP, TNK20.30
2527PheochromocytomaEnrichmentNF1, RET, VHL0.29
2528Heart diseaseEnrichmentABL1, CREBBP, RIT10.29
2529CataractEnrichmentCOL5A1, EPHA2, RHO0.29
2530Charcot-marie-tooth diseaseEnrichmentARHGEF10, DNM2, DST, DYNC1H1, HSPB1, LAMA2, MFN2, NEFL0.28
2531Pancreatic cancerEnrichmentACVR1B, KRAS, SMAD4, STK11, TP530.28
2532Tooth agenesis, selective, 1EnrichmentAXIN2, BMPR20.27
2533Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF, NCF10.27
2534Charge syndromeEnrichmentEP300, KMT2D0.27
2535Inflammatory bowel disease 1EnrichmentFMNL2, IL60.27
2536PolydactylyEnrichmentMKS1, SMAD60.27
2537Leukemia, acute lymphoblastic 3EnrichmentJAK2, NF10.27
2538Myoclonic-atonic epilepsyEnrichmentAP2M1, SYNGAP10.27
2539Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC1, TNRC6B0.27
2540Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT3, RUNX10.27
2541Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B0.27
2542Autosomal dominant cerebellar ataxiaEnrichmentDAGLA, LRRK20.27
2543Juvenile amyotrophic lateral sclerosisEnrichmentALS2, PLEKHG50.27
2544Non-syndromic x-linked intellectual disabilityEnrichmentAGTR2, ARHGEF6, ATP6AP1, CNKSR2, DLG3, RPS6KA3, USP9X0.27
2545Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentALS2, ERBB4, HNRNPA1, MEF2C, OPTN, PFN1, PSEN1, SQSTM1, TBK1, VAPB, VCP0.26
2546Renal cell carcinoma, nonpapillaryEnrichmentMET, MTOR, VHL0.25
2547Wilms tumor 1EnrichmentBRAF, IGF2, REST0.25
2548Corpus callosum, agenesis ofEnrichmentCOL4A1, CREBBP, TUBA1A0.25
2549Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A2, WNT10.25
2550Atypical hemolytic-uremic syndromeEnrichmentC3, COL4A5, DGKE0.25
2551Familial hypercholesterolemiaEnrichmentAPOE, DOCK6, SMARCA40.25
2552Isolated corpus callosum agenesisEnrichmentCOL4A1, CREBBP, TUBA1A0.25
2553Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A1, CREBBP, TUBA1A0.25
2554Hydrops fetalis, nonimmuneEnrichmentFLT4, FZD6, HRAS, PTPN11, RIT10.25
2555Kaposi sarcomaEnrichmentIL60.25
2556Mirror movements 1EnrichmentDNAL40.25
2557Amelogenesis imperfecta, type iiiaEnrichmentITGB60.25
2558Chorea, benign hereditaryEnrichmentADCY50.25
2559Dowling-degos disease 1EnrichmentADAM100.25
2560Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN10.25
2561Krabbe diseaseEnrichmentPSAP0.25
2562Small cell cancer of the lungEnrichmentTP530.25
2563CystinuriaEnrichmentCENPF0.25
2564Mitochondrial dna depletion syndrome 6EnrichmentUCN0.25
2565Anemia, autoimmune hemolyticEnrichmentSOCS10.25
2566PhenylketonuriaEnrichmentCOL1A10.25
2567Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD0.25
2568Microphthalmia, syndromic 3EnrichmentSOX20.25
2569Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.25
2570Erythrocytosis, familial, 2EnrichmentVHL0.25
2571Hemophilia aEnrichmentACVRL10.25
2572Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.25
2573AstigmatismEnrichmentGRIN2B0.25
2574Macular degeneration, age-related, 1EnrichmentAPOE0.25
2575Pseudohypoparathyroidism, type ibEnrichmentGNAS0.25
2576Neural tube defects, folate-sensitiveEnrichmentMTR0.25
2577Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA10.25
2578Intellectual developmental disorder, x-linked, syndromic, bain typeEnrichmentHNRNPH10.25
2579Budd-chiari syndromeEnrichmentJAK20.25
2580Microtia-anotiaEnrichmentKMT2D0.25
2581Paget disease of bone 2, early-onsetEnrichmentSQSTM10.25
2582Infantile sialic acid storage diseaseEnrichmentRAG20.25
2583Smith-lemli-opitz syndromeEnrichmentTSHR0.25
2584Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.25
2585Hypoalphalipoproteinemia, primary, 1EnrichmentABCA10.25
2586Lipodystrophy, familial partial, type 3EnrichmentPPARG0.25
2587Kagami-ogata syndromeEnrichmentDLK10.25
2588Pitt-hopkins syndromeEnrichmentTCF40.25
2589Parkinson disease, mitochondrialEnrichmentADH1C0.25
2590Immunodeficiency, common variable, 1EnrichmentICOS0.25
2591PilomatrixomaEnrichmentCTNNB10.25
2592Salla diseaseEnrichmentRAG20.25
2593Spinocerebellar ataxia 15EnrichmentITPR10.25
2594Joubert syndrome 4EnrichmentRPGRIP1L0.25
2595Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A0.25
2596Chondrocalcinosis 2EnrichmentOTULIN0.25
2597Factor viii deficiencyEnrichmentACVRL10.25
2598CholangiocarcinomaEnrichmentPTPN30.25
2599Barrett esophagusEnrichmentERBB20.25
2600Bone mineral density quantitative trait locus 15EnrichmentCALCR0.25
2601Temple syndromeEnrichmentDLK10.25
2602Au-kline syndromeEnrichmentVHL0.25
2603Ciliary dyskinesia, primary, 29EnrichmentCENPF0.25
2604Aminoacylase 1 deficiencyEnrichmentACTB0.25
2605Spermatogenic failure 1EnrichmentPDHA20.25
2606Developmental and epileptic encephalopathy 12EnrichmentPLCB10.25
2607Neuropathy, hereditary sensory and autonomic, type viEnrichmentDST0.25
2608Tobacco addictionEnrichmentGABBR20.25
2609Short-rib thoracic dysplasia 10 with or without polydactylyEnrichmentIFT1720.25
2610Alazami syndromeEnrichmentCTNNB10.25
2611Intellectual developmental disorder, autosomal dominant 26EnrichmentKMT2D0.25
2612Central hypoventilation syndrome, congenital, 1EnrichmentRET0.25
2613Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A0.25
2614Mantle cell lymphomaEnrichmentCCND10.25
2615Imerslund-grasbeck syndrome 2EnrichmentCDC42BPB0.25
2616Retinitis pigmentosa 71EnrichmentIFT1720.25
2617Bardet-biedl syndrome 20EnrichmentIFT1720.25
2618Fetal akinesia deformation sequence 3EnrichmentDOCK70.25
2619Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR10.25
2620EnophthalmosEnrichmentCSNK2B0.25
2621Neonatal diabetes mellitusEnrichmentINS0.25
2622Emery-dreifuss muscular dystrophyEnrichmentEMD0.25
2623Charcot-marie-tooth disease, axonal, type 2eeEnrichmentUCN0.25
2624Autosomal dominant nocturnal frontal lobe epilepsyEnrichmentGABRG20.25
2625Intellectual developmental disorder with autism and macrocephalyEnrichmentCHD80.25
2626Chronic myelomonocytic leukemiaEnrichmentFLT30.25
2627Hereditary ataxiaEnrichmentPRKCG0.25
2628Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC0.25
2629TuberculosisEnrichmentMAPKAPK30.25
2630ProlactinomaEnrichmentMEN10.25
2631OligohydramniosEnrichmentOPHN10.25
2632Epidermolytic nevusEnrichmentHRAS0.25
2633Idiopathic bronchiectasisEnrichmentCFTR0.25
2634Diabetes insipidusEnrichmentAVP0.25
2635Familial cerebral cavernous malformationsEnrichmentPIK3CA0.25
2636Adenosine deaminase deficiencyEnrichmentJAK30.25
2637Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN10.25
2638Autosomal recessive osteopetrosisEnrichmentTCIRG10.25
2639Knobloch syndromeEnrichmentPAK20.25
2640Paget's disease of bone 2EnrichmentSQSTM10.25
2641Eyelid colobomaEnrichmentFZD50.25
2642Intermediate maple syrup urine diseaseEnrichmentDBT0.25
2643Intellectual disability, x-linked, syndromic, bain typeEnrichmentHNRNPH10.25
2644Silver-russell syndrome due to a point mutationEnrichmentIGF20.25
2645Full schwannomatosisEnrichmentNF20.25
2646Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT0.25
2647Intermediate nemaline myopathyEnrichmentTPM30.25
2648Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.25
2649VitreoretinopathyEnrichmentLRP50.25
2650Orofaciodigital syndromeEnrichmentOFD10.25
2651Oculomotor apraxiaEnrichmentSUFU0.25
2652Lens colobomaEnrichmentFZD50.25
2653Familial sick sinus syndromeEnrichmentGNB20.25
2654Cat eye syndromeEnrichmentACTG1, FZD50.23
2655Leukemia, chronic lymphocyticEnrichmentCCND1, TP530.23
2656Peters-plus syndromeEnrichmentARHGAP35, COL4A10.23
2657Dravet syndromeEnrichmentGABRA1, GABRG20.23
2658Galloway-mowat syndromeEnrichmentNUP107, NUP1330.23
2659AchromatopsiaEnrichmentGNAT2, OPN1MW0.23
2660Creatine phosphokinase, elevated serumEnrichmentLAMA2, OXTR, XK0.22
2661Isolated elevated serum creatine phosphokinase levelsEnrichmentLAMA2, OXTR, XK0.22
2662NephronophthisisEnrichmentIFT140, INCENP, INTU, NPHP4, TTC21B, WDR190.21
2663Attention deficit-hyperactivity disorderEnrichmentDRD4, DRD5, GNB5, KIF5B0.21
2664Myocardial infarctionEnrichmentCCT7, ESR1, ITGB3, PSMA60.21
2665Skin diseaseEnrichmentLAMB3, LAMC2, NCSTN, NF10.21
2666Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, CFTR, FGF8, GLI2, KLB, LEO1, PDHA2, PROK2, PROKR2, PTPN110.20
2667AsthmaEnrichmentCCL11, FKBP50.19
2668Myelodysplastic syndromeEnrichmentGNB1, TP530.19
2669NanophthalmosEnrichmentALDH1A3, SOX20.19
2670Atrial heart septal defectEnrichmentHDAC8, SMARCA40.19
2671Diabetes mellitusEnrichmentINS, MEN10.19
2672Interatrial communicationEnrichmentHDAC8, SMARCA40.19
2673Presynaptic congenital myasthenic syndromesEnrichmentLAMA5, MYO9A0.19
2674Cataract 6, multiple typesEnrichmentEPHA20.19
2675Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC30.19
2676Hypertrophic neuropathy of dejerine-sottasEnrichmentEGR20.19
2677Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN10.19
2678Hyperlipidemia, familial combined, 3EnrichmentUSF10.19
2679Feingold syndrome 1EnrichmentMYCN0.19
2680Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB10.19
2681Amyloidosis, hereditary systemic 2EnrichmentFGA0.19
2682Dementia, lewy bodyEnrichmentVCP0.19
2683Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB30.19
2684Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH30.19
2685Multiple endocrine neoplasia, type iiaEnrichmentRET0.19
2686Fanconi anemia, complementation group d2EnrichmentVHL0.19
2687Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN10.19
2688Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.19
2689Kearns-sayre syndromeEnrichmentKIF5B0.19
2690Congenital disorder of glycosylation, type idEnrichmentEEF1AKMT4-ECE20.19
2691Pseudovaginal perineoscrotal hypospadiasEnrichmentANOS10.19
2692Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentSHOC20.19
2693Norrie diseaseEnrichmentFZD40.19
2694Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentPDE2A0.19
2695Macrocephaly/autism syndromeEnrichmentPTEN0.19
2696Rheumatoid arthritis, systemic juvenileEnrichmentIL60.19
2697Deafness, autosomal recessive 63EnrichmentMYH90.19
2698Knobloch syndrome 1EnrichmentPAK20.19
2699Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentOPTN0.19
2700Chondrosarcoma, extraskeletal myxoidEnrichmentTCF120.19
2701Breast-ovarian cancer, familial 2EnrichmentGPSM20.19
2702Congenital disorder of glycosylation, type ilEnrichmentATP6V0A20.19
2703Narcolepsy 2EnrichmentHCRT0.19
2704Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B10.19
2705Lissencephaly 2EnrichmentNDE10.19
2706Developmental and epileptic encephalopathy 31aEnrichmentDNM10.19
2707Rubinstein-taybi syndrome 2EnrichmentEP3000.19
2708Ventricular septal defect 1EnrichmentBMP20.19
2709Glanzmann thrombasthenia 2EnrichmentITGB30.19
2710Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA20.19
2711Follicular lymphomaEnrichmentBCL20.19
2712Fuchs' endothelial dystrophyEnrichmentTCF40.19
2713AmblyopiaEnrichmentKMT2D0.19
2714Familial woolly hair syndromeEnrichmentLPAR60.19
2715Polycystic liver disease 1EnrichmentFBN10.19
2716OsteopetrosisEnrichmentTCIRG10.19
2717PseudohermaphroditismEnrichmentLHCGR0.19
2718Epidermolysis bullosaEnrichmentLAMB30.19
2719Night blindnessEnrichmentRHO0.19
2720Juvenile glaucomaEnrichmentLTBP20.19
2721HemangiomaEnrichmentPTEN0.19
2722Spinal muscular atrophyEnrichmentDYNC1H10.19
2723Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB30.19
2724Persistent hyperplastic primary vitreousEnrichmentFZD40.19
27252q23.1 microduplication syndromeEnrichmentACVR2A0.19
2726Alg9-congenital disorder of glycosylationEnrichmentATP6V0A20.19
2727Aplasia cutis congenitaEnrichmentDLL40.19
2728Vascular dementiaEnrichmentNOTCH30.19
2729Cleft upper lipEnrichmentGJA10.19
2730Autosomal thrombocytopenia with normal plateletsEnrichmentANKRD260.19
2731Female infertility due to oocyte meiotic arrestEnrichmentTUBB80.19
2732DementiaEnrichmentPSEN10.19
2733Herpes simplex virus encephalitisEnrichmentTBK10.19
2734Multiple acyl-coa dehydrogenase deficiency, severe neonatal typeEnrichmentMADD0.19
2735AniridiaEnrichmentEPHA20.19
2736Familial glucocorticoid deficiencyEnrichmentMC2R0.19
2737Joubert syndrome with ocular defectEnrichmentMKS10.19
2738Joubert syndrome with jeune asphyxiating thoracic dystrophyEnrichmentIFT1400.19
2739Genetic motor neuron diseaseEnrichmentMFN20.19
2740Free sialic acid storage disorderEnrichmentRAG20.19
2741Persistent truncus arteriosusEnrichmentPLXND10.19
2742Sleep disorderEnrichmentGRIN2B0.19
2743Idiopathic aplastic anemiaEnrichmentTERT0.19
2744Cataract 44EnrichmentDNMBP, EPHA2, NHS0.19
2745Syndromic intellectual disabilityEnrichmentPHIP, PTH2R, TRIO0.19
2746Brittle bone disorderEnrichmentCOL1A1, COL1A2, LRP5, WNT10.18
2747Prostate cancerEnrichmentAR, MAD1L1, PIK3CA, PTEN, TP530.18
2748HypertelorismEnrichmentAMOTL1, COL11A1, COL1A1, FGFR2, MYH10, PIK3CA, RET, RIT1, RPS6KA30.17
2749Benign epilepsy with centrotemporal spikesEnrichmentGABRG2, GRIN1, PLCB1, PRICKLE1, SPTAN1, STRADA, WWOX0.17
2750Beckwith-wiedemann syndromeEnrichmentCOL6A1, IGF2, MFN20.16
2751Charcot-marie-tooth disease type 4EnrichmentDYNC1H1, EGR2, FGD40.16
2752Polycystic kidney diseaseEnrichmentCOL4A4, HDAC8, IFT1400.16
2753Early infantile developmental and epileptic encephalopathyEnrichmentGNAO1, GRIN1, GRM70.16
2754EpicanthusEnrichmentPTPN11, TCF40.16
2755Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H1, DYNC2H10.16
2756Congenital hypothyroidismEnrichmentTSHR, TUBB10.16
2757Renal hypodysplasia/aplasia 3EnrichmentFGFR3, RET0.16
275846 xx gonadal dysgenesisEnrichmentFSHR, NUP1070.16
2759Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentJUP, TGFB30.16
2760Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentJUP, TGFB30.16
2761Congenital long qt syndromeEnrichmentITPR3, PTPN110.16
2762Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR3, PTPN110.16
2763Sensorineural hearing lossEnrichmentATP6V0A4, CDC14A, COL11A2, COL9A1, EDN3, HGF, NEFL, RET0.15
2764Angelman syndromeEnrichmentGABRG30.14
2765Coloboma of optic nerveEnrichmentFZD50.14
2766Dystonia 11, myoclonicEnrichmentDRD20.14
2767Branchiootorenal syndrome 1EnrichmentTJP20.14
2768Machado-joseph diseaseEnrichmentLRRK20.14
2769Muscular dystrophy, limb-girdle, autosomal recessive 1EnrichmentTOR1AIP10.14
2770Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.14
2771Pierre robin syndromeEnrichmentSOX90.14
2772Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO60.14
2773Epilepsy, childhood absence 1EnrichmentGABRB30.14
2774Albinism, ocular, type iEnrichmentGPR1430.14
2775Wilms tumor 5EnrichmentBRAF0.14
2776Dental anomalies and short statureEnrichmentLTBP30.14
2777Pendred syndromeEnrichmentDIAPH10.14
2778Renal dysplasia, cysticEnrichmentWNT9B0.14
2779Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.14
2780Familial adult myoclonic epilepsyEnrichmentADRA2B0.14
2781Renal hypoplasiaEnrichmentWNT9B0.14
2782Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentHELLS0.14
2783Pain disorderEnrichmentCOL5A10.14
2784PancytopeniaEnrichmentRUNX10.14
2785DiarrheaEnrichmentWNT2B0.14
2786Megaloblastic anemiaEnrichmentCDC42BPB0.14
2787Pulmonary fibrosisEnrichmentTERT0.14
2788Chronic mucocutaneous candidiasisEnrichmentSTAT10.14
2789Early myoclonic encephalopathyEnrichmentTUBA1A0.14
2790Hoyeraal-hreidarsson syndromeEnrichmentTERT0.14
2791HypertrichosisEnrichmentCREBBP0.14
2792Spondylocostal dysostosis, autosomal recessiveEnrichmentLFNG0.14
2793Multicystic kidney dysplasiaEnrichmentFZD30.14
2794AlbinismEnrichmentGPR1430.14
2795Multicystic dysplastic kidneyEnrichmentFZD30.14
2796Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentC30.14
2797Developmental and epileptic encephalopathy 1EnrichmentCSNK1E, GNAO1, GRIN1, WWOX0.14
2798Centralopathic epilepsyEnrichmentGABRG2, GRIN1, PLCB1, PRICKLE1, SPTAN1, STRADA, WWOX0.14
2799Hypercholesterolemia, familial, 1EnrichmentDOCK6, SMARCA40.13
2800Hereditary breast ovarian cancer syndromeEnrichmentBCAR1, CTNNA1, KRAS, MEN1, NF1, PTCH1, PTEN, RIPK1, TP530.13
2801Peripheral nervous system diseaseEnrichmentDYNC1H1, KIF5A, MFN2, NEFL, NGF0.12
2802NeuropathyEnrichmentDYNC1H1, KIF5A, MFN2, NEFL, NGF0.12
2803Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A5, TRPC60.12
2804Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.11
2805Waardenburg syndrome, type 1EnrichmentPOLR2F0.11
2806Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.11
2807Hypothyroidism, congenital, nongoitrous, 2EnrichmentTSHR0.11
2808Silver-russell syndrome 1EnrichmentIGF20.11
2809Imerslund-grasbeck syndrome 1EnrichmentCDC42BPB0.11
2810Brugada syndrome 1EnrichmentFBN10.11
2811Semantic dementiaEnrichmentPSEN10.11
2812NeutropeniaEnrichmentELANE0.11
2813Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT10.11
2814Alzheimer's disease 1EnrichmentAPP0.11
2815Polycystic kidney disease 1EnrichmentTSC20.11
2816Branchiootorenal syndromeEnrichmentTJP20.11
2817Retinal degenerationEnrichmentIQCE0.11
2818MegacolonEnrichmentAKT30.11
2819Focal epilepsyEnrichmentSPTAN10.11
2820Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCRH0.11
2821Childhood-onset nemaline myopathyEnrichmentTPM30.11
2822Amelogenesis imperfecta type 2EnrichmentGPR680.11
2823Paroxysmal dystoniaEnrichmentPDE2A0.11
2824Immunodeficiency due to a late component of complement deficiencyEnrichmentC50.11
2825Hypophosphatemic ricketsEnrichmentFGF230.11
2826Cone-rod dystrophy 6EnrichmentGNAT2, PDE6B0.11
2827Periventricular nodular heterotopiaEnrichmentFLNA, NEDD4L0.11
2828Seckel syndromeEnrichmentCENPE, NUP850.11
2829Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentJUP, TGFB30.11
2830Familial hypertrophic cardiomyopathyEnrichmentACTC1, ACTN2, OXTR, PRKAG2, RAF10.11
2831StrabismusEnrichmentGNB1, KIF7, KMT2D, PTPN110.11
2832Endometrial cancerEnrichmentFGFR2, PIK3CA, PTEN0.10
2833Centronuclear myopathyEnrichmentDNM2, TOR1AIP1, TPM30.10
2834Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentNF1, RET, VHL0.10
2835Coffin-siris syndrome 1EnrichmentSMARCA4, SOX40.09
2836Anterior segment dysgenesisEnrichmentCOL4A1, ITPR10.09
2837Autosomal dominant polycystic kidney diseaseEnrichmentIFT140, TSC20.09
2838Familial isolated dilated cardiomyopathyEnrichmentACTC1, ACTN2, LAMA4, PSEN1, PSEN2, RAF1, TMPO, VCL0.09
2839Congenital nervous system abnormalityEnrichmentAAAS, CAMK2B, CREBBP, CTNNB1, DYNC1H1, FGFR3, GNAO1, GNB5, KMT2D, OPHN1, PSEN1, PTEN, SMC1A, TSC2, TUBA1A, TUBB4A, WWOX0.09
2840Nervous system diseaseEnrichmentAAAS, CAMK2B, CREBBP, CTNNB1, DYNC1H1, FGFR3, GNAO1, GNB5, KMT2D, OPHN1, PSEN1, PTEN, SMC1A, TSC2, TUBA1A, TUBB4A, WWOX0.09
2841Arthrogryposis, distal, type 1aEnrichmentMET0.09
2842Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA10.09
2843Myopathy, tubular aggregate, 1EnrichmentOXTR0.09
2844Hemochromatosis, type 1EnrichmentBMP20.09
2845Spondylocostal dysostosis 1, autosomal recessiveEnrichmentPLEKHG20.09
2846Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.09
2847Perrault syndromeEnrichmentSGO20.09
2848Severe congenital neutropeniaEnrichmentTCIRG10.09
2849Alternating hemiplegia of childhoodEnrichmentRHOBTB20.09
2850Congenital muscular dystrophyEnrichmentLAMA20.09
2851Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.09
2852Essential tremorEnrichmentDRD30.09
2853Male infertility due to globozoospermiaEnrichmentGOPC0.09
2854Difference of sex developmentEnrichmentAR0.09
2855Combined pituitary hormone deficiencyEnrichmentGLI20.09
2856Early-onset posterior polar cataractEnrichmentEPHA20.09
2857Infantile nephronophthisisEnrichmentTTC21B0.09
2858Left ventricular noncompactionEnrichmentACTC1, ACTN2, MIB1, MIB2, RAF10.09
2859Meckel syndrome, type 1EnrichmentB9D2, EVC2, MKS1, RPGRIP1L0.08
2860AutismEnrichmentALDH1A3, ATP6V0A1, CAMK2G, CHD8, COL11A1, CREBBP, DOCK4, KMT2D, NBEA, SHH, TCF7L20.08
2861Wolff-parkinson-white syndromeEnrichmentJUP, PRKAG20.08
2862Perrault syndrome 1EnrichmentFBN1, FSHR0.08
2863Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN2, JUP0.08
2864Isolated congenital microcephalyEnrichmentPHC1, TUBA3E0.08
2865MalariaEnrichmentACKR1, IKBKG, MAPKAPK30.08
2866Orofacial cleft 1EnrichmentFGF100.07
2867Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR0.07
2868Nephrotic syndrome, type 1EnrichmentTTC21B0.07
2869Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR0.07
2870Developmental and epileptic encephalopathy 14EnrichmentPLCB10.07
2871Leukoencephalopathy with vanishing white matterEnrichmentANKLE20.07
2872Cystic kidney diseaseEnrichmentIFT1400.07
2873Colonic benign neoplasmEnrichmentAPC0.07
2874Primary biliary cholangitisEnrichmentTJP20.07
2875Hypotrichosis simplexEnrichmentLPAR60.07
2876Hypertrophic cardiomyopathyEnrichmentACTC1, ACTN2, CASR, KIF5B, PRKAG2, PTPN110.07
2877Ear malformationEnrichmentCDC14A, COL11A2, MYO60.07
2878Cone dystrophyEnrichmentABHD12, GNAT2, WDR190.07
2879Pancreatitis, hereditaryEnrichmentCASR, CFTR0.07
2880Interstitial lung disease 2EnrichmentFAM13A, TERT0.07
2881Sudden infant death syndromeEnrichmentCALM2, PDHA10.07
2882Cataract 30, multiple typesEnrichmentVIM0.06
2883Meier-gorlin syndrome 1EnrichmentFGFR20.06
2884Crigler-najjar syndrome, type iEnrichmentUGT1A30.06
2885Hyperbilirubinemia, transient familial neonatalEnrichmentUGT1A30.06
2886Bilirubin, serum level of, quantitative trait locus 1EnrichmentUGT1A30.06
2887Ciliary dyskinesia, primary, 3EnrichmentNFKB10.06
2888Aplastic anemiaEnrichmentTERT0.06
2889Crigler-najjar syndrome, type iiEnrichmentUGT1A30.06
2890NephrocalcinosisEnrichmentATP6V1B10.06
2891Nemaline myopathyEnrichmentTPM30.06
2892NephrolithiasisEnrichmentATP6V1B10.06
2893Familial colorectal cancerEnrichmentTP530.06
2894Cystic fibrosisEnrichmentCFTR, EDNRA, PLG, TGFB10.05
2895Neuromuscular diseaseEnrichmentEMD, SPTAN10.05
2896Early-onset nuclear cataractEnrichmentEPHA2, NHS0.05
2897Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, CDC14A, COL11A2, EDNRB, GJA1, GPSM2, GRAP, HGF, MET, MYH9, MYO6, ROR1, S1PR20.05
2898Systemic lupus erythematosusEnrichmentIRAK1, SOCS1, SPP1, TNFAIP3, UBE2L30.05
2899Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN1, POLR2B0.05
2900Gilbert syndromeEnrichmentUGT1A30.05
2901Epilepsy, myoclonic juvenileEnrichmentGABRA10.05
2902Frontotemporal dementia 1EnrichmentPSEN10.05
2903Epilepsy, idiopathic generalizedEnrichmentGABRA10.05
2904Bilirubin metabolic disorderEnrichmentUGT1A30.05
2905Movement diseaseEnrichmentGNAO10.05
2906IchthyosisEnrichmentIL2RB0.05
2907Uterine corpus cancerEnrichmentPTEN0.05
2908Familial colorectal cancer type xEnrichmentBMPR1A0.05
2909CiliopathyEnrichmentRPGRIP1L0.05
2910Rare genetic deafnessEnrichmentACTG1, ATP6V1B1, CDC14A, COL11A2, COL4A5, DIAPH1, EDNRB, GPSM2, MYH9, MYO6, POLR2F0.04
2911Dilated cardiomyopathyEnrichmentACTC1, ACTN2, BRAF, EMD, FBN1, JUP, KIF5B, LAMA2, RAF1, TAB2, VCL0.04
2912Williams-beuren syndromeEnrichmentLIMK1, NCF10.04
2913Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentTOR1AIP10.04
2914Early-onset parkinson's diseaseEnrichmentLRRK20.04
2915Lactic acidosisEnrichmentDLD0.04
2916DystoniaEnrichmentCAMK2B, GNAL, GNB1, RHOBTB20.04
2917Developmental and epileptic encephalopathyEnrichmentARHGEF15, GNAO1, SPTAN1, ST3GAL30.03
2918Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A10.03
2919Bardet-biedl syndrome 1EnrichmentKIF70.03
2920Pulmonary disease, chronic obstructiveEnrichmentPDE3B0.03
2921ClubfootEnrichmentCOL5A10.03
2922Myoclonic epilepsy of unverricht and lundborgEnrichmentPRICKLE10.02
2923Walker-warburg syndromeEnrichmentCOL4A10.02
2924Generalized epilepsy with febrile seizures plusEnrichmentGABRG20.02
2925Hereditary chronic pancreatitisEnrichmentCFTR0.02
2926Isolated macular dystrophyEnrichmentCOL4A50.02
2927SchizophreniaEnrichmentDLG2, DRD3, GABRB2, HTR2A, PDE11A, PHIP, RTN4R0.02
2928Long qt syndromeEnrichmentCALM1, CALM2, OXTR0.02
2929Spastic ataxiaEnrichmentCCDC88C, DNMT1, ITPR1, MKS1, SPTAN1, TUBB30.02
2930Congenital myopathy 4a, autosomal dominantEnrichmentTPM30.02
2931Neuronal ceroid lipofuscinosisEnrichmentCTSD0.02
2932Cardiomyopathy, familial hypertrophic, 1EnrichmentOXTR, RAF10.02
2933Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentKCTD30.02
2934Distal arthrogryposisEnrichmentACTC1, FZD3, MYOD1, ROR20.01
2935Bardet-biedl syndromeEnrichmentIFT172, MKS1, NPHP4, RPGRIP1L0.01
2936Hereditary spastic paraplegiaEnrichmentKIF5A, PLEKHG5, RAB9B, SPTAN10.01
2937Nonsyndromic hearing lossEnrichmentACTG1, COL11A2, MYH14, MYO60.01
2938Non-syndromic genetic deafnessEnrichmentACTG1, MYH14, MYO60.01
2939Fetal akinesia deformation sequence 1EnrichmentMYOD1, ROR2, TUBA1A0.01
2940Behcet syndromeEnrichmentCCR10.01
2941Dyskeratosis congenitaEnrichmentTERT0.01
2942Maturity-onset diabetes of the youngEnrichmentINS0.01
2943AzoospermiaEnrichmentPDHA20.01
2944Visceral heterotaxyEnrichmentACVR2B0.00
2945Diamond-blackfan anemia 1EnrichmentTP530.00
2946Male infertilityEnrichmentAR, CFTR0.00
2947Autoinflammatory diseaseEnrichmentELANE0.00
2948Muscular dystrophyEnrichmentCOL6A20.00
2949Diamond-blackfan anemiaEnrichmentRPS27, TP530.00
2950Leber plus diseaseEnrichmentCCT2, GRM6, IFT140, PDE6A, PDE6B, RGS9, RPGRIP1L, TUBB4B, WDR190.00
2951Stargardt disease 1EnrichmentCOL2A10.00
2952Optic atrophy plus syndromeEnrichmentRDH5, TUBB60.00
2953Fanconi anemia, complementation group aEnrichmentVHL0.00
2954Eye diseaseEnrichmentGNAT20.00
2955Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP1, GRIN1, GRM70.00
2956Cone-rod dystrophy 2EnrichmentOPN1LW, OPN1MW, PDE6B, RHO0.00
2957Mitochondrial complex i deficiency, nuclear type 1EnrichmentNDUFS30.00
2958Deafness, autosomal recessiveEnrichmentEDNRB, GPSM2, MYH90.00
2959Autosomal recessive nonsyndromic deafnessEnrichmentEDNRB, GPSM2, MYH90.00
2960Primary ciliary dyskinesiaEnrichmentDRC4, OFD1, PRKAR1B0.00
2961Hereditary retinal dystrophyEnrichmentABHD12, ARHGEF18, COL11A2, COL2A1, COL9A1, CTNNA1, DYNC2H1, FZD4, GNAT1, GNAT2, GRM6, IFT140, IFT172, JAG1, LAMA1, LRP5, NPHP4, OFD1, PDE6A, PDE6B, PDE6G, RDH11, RDH5, RGR, RGS9, RHO, TTC21B, WDR190.00
2962Fundus dystrophyEnrichmentABHD12, ARHGEF18, COL11A2, COL2A1, COL9A1, CTNNA1, DYNC2H1, FZD4, GNAT1, GNAT2, GRM6, IFT140, IFT172, JAG1, LAMA1, LRP5, NPHP4, OFD1, PDE6A, PDE6B, PDE6G, RDH11, RDH5, RGR, RGS9, RHO, TTC21B, WDR190.00
2963Mitochondrial diseaseEnrichmentC1QBP, PDHX0.00
2964Retinitis pigmentosaEnrichmentARHGEF18, GNAT1, IFT122, IFT140, IFT172, IFT88, MKS1, NPHP4, OFD1, PDE6A, PDE6B, PDE6G, RDH5, RGR, RHO0.00

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