ERK Signaling

Pathway network for the ERK Signaling SuperPath

Sources:
  • QIAGEN

Pathways in the ERK Signaling SuperPath

#NameSourceGenes
1ERK SignalingQIAGEN
(see all 607) (see less)
2Molecular Mechanisms of CancerQIAGEN
(see all 814) (see less)
3Rho Family GTPasesQIAGEN
(see all 545) (see less)
4MAPK SignalingQIAGEN
(see all 504) (see less)
5ILK SignalingQIAGEN
(see all 481) (see less)

Gene overlap in member pathways for ERK Signaling SuperPath

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

Disorders associated with ERK Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bladder cancerEnrichmentATM, BRCA1, CDKN1A, CDKN2A, CTNNA3, CTNNB1, EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, NF1, PTEN, RB1, TP53, TSC110.88
2Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.77
3Gastric cancerEnrichmentAPC, ATM, BRCA1, CASP10, CDH1, CDK4, CDKN2A, CHEK2, ERBB2, FGFR2, IL1B, KRAS, NBN, NF1, PTEN, SMAD4, STK11, TP5310.51
4Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CX3CR1, CXCL12, CXCR1, IL10, IL1910.37
5Colorectal cancerEnrichmentAKT1, APC, ATM, AURKA, BAX, BRAF, BRCA1, CCND1, CDH1, CHEK2, CTNNA1, CTNNB1, EP300, ERBB2, FGFR2, FGFR3, FZD3, IGF2, MET, NRAS, PIK3R1, SMAD4, SOX9, SRC, TP5310.32
6Ovarian cancerEnrichmentAKT1, ALK, APC, ATM, BMPR1A, BRCA1, CDH1, CDKN1B, CDKN2A, CHEK2, CTNNB1, EGFR, ERBB2, FANCD2, KIT, KRAS, MET, NBN, NTRK1, PDGFRA, PTCH1, PTEN, RB1, RRAS2, TP53, TSC29.83
7RasopathyEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, RAF1, RRAS2, SOS1, SOS29.22
8Inherited cancer-predisposing syndromeEnrichmentALK, APC, ATM, BMPR1A, BRCA1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, EGFR, KIT, MAX, MET, NBN, NF1, PDGFRA, PRKAR1A, PTCH1, PTEN, RB1, SMAD4, STK11, SUFU, TP53, TSC1, TSC2, VHL9.10
9Lip and oral cavity carcinomaEnrichmentABL1, BRAF, CDKN2A, EGFR, HRAS, KIT, RB1, STK11, TP538.74
10Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, NOTCH1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR28.68
11Connective tissue diseaseEnrichmentACTA2, COL11A1, COL12A1, COL2A1, COL5A1, COL9A1, COL9A3, EFEMP1, FBN1, FGFR3, FLNB8.18
12Stickler syndromeEnrichmentBMP4, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, VCAN8.13
13Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS17.75
14Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS7.57
15Loeys-dietz syndromeEnrichmentFBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR27.05
16Adult hepatocellular carcinomaEnrichmentAXIN1, CASP8, CTNNB1, EGF, TP53, TSC1, TSC27.05
17Junctional epidermolysis bullosaEnrichmentCOL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC26.71
18Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, FGF10, KRAS, ROS1, TP536.59
19Marfan syndromeEnrichmentCOL2A1, FBN1, FBN2, LTBP2, TGFB2, TGFBR1, TGFBR26.55
20Breast cancerEnrichmentAKT1, APC, ATM, BRCA1, CASP8, CDH1, CDKN2B, CHEK2, GNG3, IL2, IL7R, JUN, KRAS, NBN, PTCH2, PTEN, RAD51, TP536.50
21Epidermolysis bullosa, junctional 1a, intermediateEnrichmentCOL17A1, ITGB4, LAMA3, LAMB3, LAMC26.49
22Junctional epidermolysis bullosa non-herlitz typeEnrichmentCOL17A1, ITGB4, LAMA3, LAMB3, LAMC26.49
23Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A2, TGFBR16.39
24Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN2, SMAD3, TGFB2, TGFBR26.29
25Myeloma, multipleEnrichmentATM, AURKA, BRAF, CCND1, CDKN2C, CREBBP, FGFR3, FLT3, IL7R, KRAS, MST1R, NF1, PIK3R2, TCF3, TP536.18
26Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF1, SOX55.94
27RhabdomyosarcomaEnrichmentALK, BRCA1, CBL, HRAS, NF1, PTCH1, PTEN, TP535.87
28Lung cancerEnrichmentALK, BRAF, BRCA1, CASP8, CHEK2, EGFR, ERBB2, FAS, FASLG, KRAS, MET5.86
29Nevus, epidermalEnrichmentCOL7A1, FGFR3, HRAS, KRAS, NRAS5.86
30Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF15.86
31Bethlem muscular dystrophyEnrichmentCOL12A1, COL6A1, COL6A2, COL6A35.81
32Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, COL11A1, COL11A2, KITLG, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A, TNC5.79
33Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K25.72
34Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K25.72
35Lung squamous cell carcinomaEnrichmentALK, CDKN2A, EGFR, FGFR3, KRAS5.36
36Diffuse large b-cell lymphomaEnrichmentBRAF, BTK, CHEK2, CREBBP, FOXO1, NBN, PTEN, TP535.17
37Ullrich congenital muscular dystrophy 1aEnrichmentCOL12A1, COL6A1, COL6A2, COL6A35.12
38MelanomaEnrichmentBRAF, CDKN2A, CHEK2, FBN1, PTEN, STK115.11
39Pancreatic cancerEnrichmentATM, BRCA1, CDKN2A, CHEK2, KRAS, NBN, SMAD4, STK11, TP535.08
40Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC24.89
41Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC24.89
42Type 2 diabetes mellitusEnrichmentAKT2, HNF1A, HNF1B, HNF4A, IL6, INSR, IRS1, IRS2, TCF7L24.89
43Gallbladder cancerEnrichmentBRAF, CTNNB1, KRAS, SMAD4, TP534.84
44Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A24.66
45Giant cell glioblastomaEnrichmentATM, EGFR, FGFR1, FGFR3, NFKBIA, ROS1, TP534.51
46Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR3, FRAS1, FREM1, FREM24.45
47Hereditary breast carcinomaEnrichmentAKT1, APC, ATM, BRCA1, CDH1, CHEK2, KRAS, NBN, PTEN, RAD51, TP534.38
48Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR34.35
49Multiple epiphyseal dysplasia due to collagen 9 anomalyEnrichmentCOL9A1, COL9A2, COL9A34.35
50Collagen vi-related dystrophiesEnrichmentCOL6A1, COL6A2, COL6A34.35
51High bone mass osteogenesis imperfectaEnrichmentBMP1, COL1A1, COL1A24.35
52Intermediate collagen vi-related muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A34.35
53Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A54.35
54Mccune-albright syndromeEnrichmentCOL2A1, FBN1, GNAS4.29
55Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS4.29
56Nk-cell enteropathyEnrichmentAURKB, AXL, CHEK2, ERBB4, IGF1R, JAK34.26
57Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS14.22
58Robinow syndrome, autosomal recessive 1EnrichmentDVL1, FZD2, ROR2, WNT5A4.21
59HemimegalencephalyEnrichmentAKT3, MTOR, PTEN, RHEB4.21
60Differentiated thyroid carcinomaEnrichmentALK, BRAF, HRAS, KRAS, NRAS, NTRK1, NTRK34.14
61Arteriovenous malformationEnrichmentEPHB4, HRAS, MAP2K1, RASA1, TEK4.10
62Hereditary breast ovarian cancer syndromeEnrichmentATM, BRCA1, CHEK2, CTNNA1, CTNNA2, KRAS, NBN, NF1, PTCH1, PTEN, RAD51, TP534.09
63T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E4.05
64Nonsyndromic hearing lossEnrichmentACTG1, CDH23, COL11A2, MYH14, MYO15A, MYO3A, MYO6, MYO7A4.02
65MyopiaEnrichmentCOL11A1, COL2A1, COL4A4, FBN1, MYH113.91
66Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, MAP2K1, RASA1, TEK3.82
67CakutEnrichmentACTG1, COL4A1, FRAS1, FREM2, GDF6, HNF1B, LIFR3.80
68Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB2, PLCE13.80
69Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT, MYH113.76
70Autosomal recessive stickler syndromeEnrichmentCOL9A1, COL9A2, COL9A33.76
71GliomaEnrichmentFGFR2, NTRK3, PTEN3.76
72Li-fraumeni syndromeEnrichmentCDKN2A, CHEK2, MDM2, TP533.76
73Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG, STK113.76
74Autosomal recessive robinow syndromeEnrichmentDVL1, FZD2, ROR2, WNT5A3.76
75KeratoconusEnrichmentCOL1A1, COL4A1, COL5A2, TSC13.76
76Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, PRKAR1A, TP533.76
77Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, IL10RB, TGFB13.76
78Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS3.70
79Pediatric systemic lupus erythematosusEnrichmentIRAK1, SPP1, STAT43.70
80Hepatocellular carcinomaEnrichmentAPC, AXIN1, CASP8, CTNNB1, MET, NBN, TP533.68
81Skin diseaseEnrichmentCOL17A1, COL7A1, ITGB4, LAMB3, LAMC2, NCSTN, NF13.68
82Brachydactyly, type a1EnrichmentBMPR1B, GDF5, IHH3.67
83Osteogenic sarcomaEnrichmentCHEK2, RB1, TP533.67
84Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR23.67
85HamartomaEnrichmentFGFR3, TSC1, TSC23.67
86Testicular germ cell cancerEnrichmentFGFR3, KIT, STK113.67
87Bone osteosarcomaEnrichmentCHEK2, RB1, TP533.67
88GliosarcomaEnrichmentATM, EGFR, FGFR1, FGFR3, NFKBIA, TP533.66
89Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS1, PTCH1, SUFU3.66
90Prostate cancerEnrichmentATM, BRCA1, CDH1, CHEK2, EPHB2, NBN, PTEN, TP533.65
91Non-syndromic genetic deafnessEnrichmentACTG1, CDH23, MYH14, MYO15A, MYO3A, MYO6, MYO7A3.64
92Glioma susceptibility 1EnrichmentERBB2, H3-3A, H3C1, TP533.62
93Heritable pulmonary arterial hypertensionEnrichmentACVRL1, BMPR2, GDF2, SMAD9, SOX173.58
94Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B, CDKN2B, CDKN2C3.41
95Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS, PTEN3.41
96Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TNFRSF10B, TP533.41
97Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, KRAS, MAP2K1, RASA13.41
98Renal cell carcinoma, papillary, 1EnrichmentATM, MET, MTOR, VHL3.41
99Hereditary hemorrhagic telangiectasiaEnrichmentACVRL1, GDF2, RASA1, SMAD43.41
100Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS, PTEN3.41
101B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, CDKN2A, FLT3, TP533.41
102Primary hyperaldosteronismEnrichmentBRAF, CACNA1H, GNAS, TP533.38
103Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A53.38
104Hemifacial hyperplasiaEnrichmentFGFR2, FGFR3, FLNC3.38
105Fuchs' endothelial dystrophyEnrichmentCOL8A2, TCF4, ZEB13.38
106Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A53.38
107Histiocytoid hemangiomaEnrichmentFOS, FOSB, VIM3.38
108Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A53.38
109Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB3.38
110Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NF1, NRAS, RRAS3.37
111MeningiomaEnrichmentAKT1, PDGFB, PTEN, SMO, SUFU3.37
112MyopathyEnrichmentACTA1, COL6A1, COL6A2, COL6A3, FBN1, MYH2, MYH73.34
113Epidermolysis bullosaEnrichmentCOL7A1, ITGA6, LAMB33.32
114Familial cerebral saccular aneurysmEnrichmentANGPTL6, COL3A1, TGFBR33.32
115Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, TIMP33.28
116Cutis laxaEnrichmentCOL5A1, EFEMP1, EFEMP2, LTBP43.21
117Behcet syndromeEnrichmentCCR1, FAS, IL10, IL12A, IL23R, TNFRSF1A3.20
118Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC23.09
119Hemangioma, capillary infantileEnrichmentFLT4, KDR, MYH93.09
120Inguinal herniaEnrichmentCOL5A1, EFEMP1, FBN13.09
121Inherited arrhythmogenic cardiomyopathyEnrichmentDSP, FLNC, MYH73.09
122Brachydactyly, type a2EnrichmentBMP2, BMPR1B, GDF53.08
123Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, CTNNA1, KRAS3.08
124Robinow syndrome, autosomal dominant 1EnrichmentDVL1, FZD2, WNT5A3.08
125Autoimmune lymphoproliferative syndromeEnrichmentCASP10, FAS, FASLG3.08
126Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND2, PIK3R23.08
127Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS3.08
128Aortic aneurysmEnrichmentFBN1, SMAD3, TGFBR13.08
129CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB13.08
130Autosomal dominant robinow syndromeEnrichmentDVL1, FZD2, WNT5A3.08
131Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB33.03
132OsteoporosisEnrichmentCOL1A1, COL1A2, LRP5, SRC, WNT13.01
133MedulloblastomaEnrichmentAPC, CTNNB1, PTCH1, PTCH2, SUFU3.01
134Endometrial cancerEnrichmentATM, BRCA1, CDH1, CHEK2, FGFR2, PTEN2.94
135Multiple sclerosisEnrichmentITGB4, LAMA5, LAMB1, TNFRSF1A2.93
136Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCDH23, COL11A2, HGF, MET, MYH9, MYO15A, MYO3A, MYO6, MYO7A, ROR12.93
137Acromicric dysplasiaEnrichmentFBN1, LTBP32.90
138Lymphatic malformation 1EnrichmentEPHB4, FLT42.90
139Amelogenesis imperfecta, type iaEnrichmentCOL17A1, LAMB32.90
140Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN12.90
141Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN12.90
142Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB3, FLNA2.90
143Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL11A2, COL2A12.90
144Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT42.90
145Dermatofibrosarcoma protuberansEnrichmentCOL1A1, PDGFB2.90
146Piebald traitEnrichmentKIT, SNAI22.90
147Pfeiffer syndromeEnrichmentFGFR1, FGFR22.90
148Jackson-weiss syndromeEnrichmentFGFR1, FGFR22.90
149Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL11A2, COL2A12.90
150Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A22.90
151FibrochondrogenesisEnrichmentCOL11A1, COL11A22.90
152Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET2.90
153Aortic dissectionEnrichmentCOL3A1, FBN12.90
154Split hand-foot malformationEnrichmentFGFR2, LEF12.90
155Stickler syndrome, type iiEnrichmentCOL11A1, COL1A12.90
156Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB32.90
157Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG12.90
158Hereditary lymphedema iEnrichmentEPHB4, FLT42.90
159Interfrontal craniofaciosynostosisEnrichmentFGFR1, FREM12.90
160Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A22.90
161Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentCOL17A1, ITGB42.90
162Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A, HNF4A2.90
163X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A62.90
164Ear malformationEnrichmentCDH23, COL11A2, MYO15A, MYO6, MYO7A2.87
165Cervical cancerEnrichmentFGFR3, TP532.86
166Pulmonic stenosisEnrichmentBRAF, SOS12.86
167Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A2.86
168Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS2.86
169Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS2.86
170Angioma, tuftedEnrichmentGNA14, KDR2.86
171Cervix carcinomaEnrichmentFGFR3, TP532.86
172Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB2, TSC12.86
173Bethlem myopathy 1aEnrichmentCOL6A1, COL6A2, COL6A32.86
174Intervertebral disc diseaseEnrichmentCOL11A1, COL9A2, COL9A32.86
175Sensorineural hearing lossEnrichmentCDH23, COL11A2, COL9A1, HGF, MYO15A, MYO3A, MYO7A2.85
176Renal cell carcinoma, nonpapillaryEnrichmentHNF1A, HNF1B, MET, MTOR2.81
177Anterior segment dysgenesis 5EnrichmentBMP4, COL4A1, PAX62.79
178Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS1, PTCH12.72
179Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP52.71
180Von hippel-lindau syndromeEnrichmentCCND1, FANCD2, VHL2.71
181Rhabdomyosarcoma 2EnrichmentFOXO1, NF1, TP532.71
182Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A, SMAD4, STK112.71
183Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B2.70
184Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB3, TUBA8, TUBB12.69
185Dilated cardiomyopathyEnrichmentACTA1, ACTN2, DSP, FBN1, FLNC, LAMA2, MYH6, MYH7, MYL22.69
186Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A1, GNAS, TCF42.61
187Orthostatic intoleranceEnrichmentCOL5A1, FBN1, RPS6KA32.61
188Melanoma, cutaneous malignant 1EnrichmentBRAF, CDK4, CDKN2A, CDKN2B, STK112.59
189Leukemia, acute lymphoblasticEnrichmentCDKN2A, FLT3, GNB1, NBN2.52
190Uterine corpus cancerEnrichmentATM, BRCA1, CHEK2, PTEN2.52
191Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A1, FBN1, MYH112.50
192Heart, malformation ofEnrichmentCOL11A2, COL2A1, MAPK1, MYH62.49
193Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS12.49
194Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH12.49
195Blepharocheilodontic syndrome 1EnrichmentCDH1, CTNND12.44
196Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR22.44
197LymphangioleiomyomatosisEnrichmentTSC1, TSC22.44
198Fibrodysplasia ossificans progressivaEnrichmentACVR1, BMPR22.44
199Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC1, RARB2.44
200Infantile myofibromatosisEnrichmentNOTCH3, PDGFRB2.44
201Congenital fibrosarcomaEnrichmentSUFU, TP532.44
202Li-fraumeni syndrome 1EnrichmentCHEK2, TP532.44
203SarcomaEnrichmentCHEK2, TP532.44
204Juvenile polyposis of infancyEnrichmentBMPR1A, PTEN2.44
205Pleomorphic rhabdomyosarcomaEnrichmentNF1, TP532.44
206Ventricular septal defectEnrichmentBRAF, RPS6KA3, TEK2.44
207Crouzon syndromeEnrichmentFGFR2, FGFR32.43
208Contractural arachnodactyly, congenitalEnrichmentFBN1, FBN22.43
209AchondroplasiaEnrichmentFBN1, FGFR32.43
210Larsen syndromeEnrichmentFGFR3, FLNB2.43
211Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF6, MYO18B2.43
212Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A42.43
213TelecanthusEnrichmentCOL11A1, COL5A22.43
214Spondylocarpotarsal synostosis syndromeEnrichmentFLNB, MYH32.43
215Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A22.43
216Weill-marchesani syndrome 1EnrichmentFBN1, LTBP22.43
217Autosomal recessive cutis laxa type iEnrichmentEFEMP2, LTBP12.43
218Chromophobe renal cell carcinomaEnrichmentHNF1A, HNF1B2.43
219Melanoma of soft tissueEnrichmentATF1, CREB12.43
220Geleophysic dysplasiaEnrichmentFBN1, LTBP32.43
221Basal cell nevus syndrome 1EnrichmentPTCH1, PTCH2, SUFU2.43
222Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL1, PSEN1, RASA12.43
223Basal cell carcinoma 1EnrichmentPTCH1, PTCH2, RASA12.43
224Congenital fibrosis of the extraocular musclesEnrichmentCOL25A1, TUBB2B, TUBB32.43
225Breast adenocarcinomaEnrichmentAKT1, KRAS, TP532.43
226Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB3, STAT32.39
227Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB32.39
228Psoriatic arthritisEnrichmentLTA, TNF2.39
229Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R12.39
230Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.39
231High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC2.39
232SpermatocytomaEnrichmentFGFR3, HRAS2.39
233Anastomosing haemangiomaEnrichmentGNA11, GNA142.39
234Amelogenesis imperfecta, type ieEnrichmentCOL17A1, ITGB6, LAMB32.36
235Nemaline myopathyEnrichmentACTA1, FLNC, MYO18B2.36
236Primary bone dysplasiaEnrichmentCOL1A1, COL1A2, FGFR32.36
237CraniosynostosisEnrichmentFGFR2, FGFR3, TCF12, TCF202.32
238Familial hypertrophic cardiomyopathyEnrichmentACTN2, FLNC, MYH7, MYL2, MYL32.24
239Thyroid carcinoma, familial medullaryEnrichmentESR2, NTRK12.24
240Nasopharyngeal carcinomaEnrichmentNFKBIA, TP532.24
241Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C2.24
242Migraine without auraEnrichmentESR1, TNF2.24
243OsteochondrodysplasiaEnrichmentCOL1A1, COL1A2, FGFR32.23
244Presynaptic congenital myasthenic syndromesEnrichmentCOL13A1, LAMA5, MYO9A2.23
245Pulmonary hypertension, primary, 1EnrichmentACVRL1, BMPR2, GDF2, SOX172.23
246Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, CHEK2, NBN2.23
247Leukemia, chronic myeloidEnrichmentABL1, KRAS, NRAS2.20
248Multiple enchondromatosis, maffucci typeEnrichmentCOL2A1, HIF1A, VHL2.20
249Essential thrombocythemiaEnrichmentJAK2, THPO, TP532.20
250Common variable immunodeficiencyEnrichmentCD40LG, NFKB1, TNFRSF13B2.20
251Overgrowth syndromeEnrichmentMTOR, PIK3R1, PTCH12.20
252Hirschsprung disease 1EnrichmentERBB2, ERBB3, IHH, NRG3, SMO, SOX102.18
253Pectus excavatumEnrichmentFBN1, TCF20, TGFBR12.17
254Rare genetic deafnessEnrichmentACTG1, CDH23, COL11A2, COL4A5, MYH9, MYO15A, MYO6, MYO7A2.17
255HepatoblastomaEnrichmentAPC, COL7A1, CTNNB1, FGFR3, TP532.16
256Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A22.14
257Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A22.14
258Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A42.14
259Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG2, MYH112.14
260Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R22.14
261Glaucoma 3, primary infantile, bEnrichmentLTBP2, TEK2.14
262Maturity-onset diabetes of the young, type 3EnrichmentHNF1A, HNF4A2.14
263Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.14
264Macular dystrophy, vitelliform, 3EnrichmentIMPG1, IMPG22.14
265Multiple synostoses syndromeEnrichmentGDF5, GDF62.14
266Weill-marchesani syndromeEnrichmentFBN1, LTBP22.14
267Corneal dystrophyEnrichmentCOL17A1, ZEB12.14
268Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A42.14
269Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A22.14
270Mitral valve insufficiencyEnrichmentFBN1, MYH112.14
271Non-syndromic bicoronal craniosynostosisEnrichmentFGFR3, TCF122.14
272Pseudomyogenic hemangioendotheliomaEnrichmentACTB, FOSB2.14
273ThrombocytopeniaEnrichmentACVRL1, CYCS, ITGA2B, ITGB3, SMAD4, SRC, THPO, TUBB12.14
274Systemic lupus erythematosusEnrichmentETS1, IL10, ITGAM, SPP1, TNF, TNFSF42.14
275Cerebral palsyEnrichmentCACNA1A, CACNA1C, COL4A1, COL4A2, GNB1, PDGFRB2.14
276Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP532.10
277Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB42.10
278Achromatopsia 4EnrichmentGNAI3, GNAT22.10
279Lung sarcomatoid carcinomaEnrichmentKRAS, TP532.10
280Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.10
281Knobloch syndromeEnrichmentCOL18A1, PAK22.10
282Aortic aneurysm, familial thoracic 1EnrichmentCOL3A1, FBN1, NOTCH1, SMAD32.10
283Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A2.09
284AsthmaEnrichmentCCL11, IL13, TNF2.08
285Peters-plus syndromeEnrichmentBMP4, COL4A1, PAX62.07
286Leukemia, acute myeloidEnrichmentFANCD2, FLT3, JAK2, KIT, KRAS, NRAS, TP532.05
287Non-immune hydrops fetalisEnrichmentANGPT2, EPHB4, FLT4, FZD6, HRAS, KRAS2.03
288Cardiomyopathy, familial hypertrophic, 1EnrichmentFLNC, MYH6, MYH7, MYH7B2.03
289Lymphoma, non-hodgkin, familialEnrichmentBRAF, CASP10, TP532.02
290Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP52.02
291Diaphragmatic hernia, congenitalEnrichmentFBN1, FRAS1, FREM22.01
292Amelogenesis imperfectaEnrichmentCOL17A1, LAMB3, LTBP32.01
293Osteogenesis imperfecta, type iiiEnrichmentBMP1, COL1A1, COL1A2, WNT11.99
294Rare genetic intellectual disabilityEnrichmentCREBBP, EP300, GNAO1, MTOR1.99
295Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS1, PTCH11.99
296Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS1, PTCH11.99
297Desmoid disease, hereditaryEnrichmentAPC, CTNNB11.98
298Brachydactyly, type cEnrichmentBMPR1B, GDF51.98
299Ataxia-telangiectasiaEnrichmentATM, BRAF1.98
300Juvenile polyposis syndromeEnrichmentBMPR1A, SMAD41.98
301Acromesomelic dysplasia 2aEnrichmentBMPR1B, GDF51.98
302Acromesomelic dysplasia 2cEnrichmentBMPR1B, GDF51.98
303Acromesomelic dysplasia 2bEnrichmentBMPR1B, GDF51.98
304Polycythemia veraEnrichmentATM, JAK21.98
305Mycosis fungoidesEnrichmentCD28, TNFRSF1B1.98
306Tuberous sclerosis 1EnrichmentTSC1, TSC21.98
307Alzheimer disease 4EnrichmentPSEN1, PSEN21.98
308Primary polycythemiaEnrichmentEPOR, VHL1.98
309Tethered spinal cord syndromeEnrichmentBRAF, CREBBP1.98
310Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK21.98
311Desmoid tumorEnrichmentAPC, CTNNB11.98
312Dedifferentiated liposarcomaEnrichmentCDK4, MDM21.98
313Squamous cell carcinomaEnrichmentRB1, TP531.98
314T-cell acute lymphoblastic leukemiaEnrichmentABL1, BAX1.98
315AdenocarcinomaEnrichmentATM, TP531.98
316Laryngeal squamous cell carcinomaEnrichmentPTEN, TNFRSF10B1.98
317Neonatal inflammatory skin and bowel diseaseEnrichmentADAM17, EGFR1.98
318Tubulinopathy-associated dysgyriaEnrichmentTUBB2B, TUBB31.98
319Well-differentiated liposarcomaEnrichmentCDK4, MDM21.98
320Testicular cancerEnrichmentFGFR3, STK111.98
321Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR2, SMAD91.98
322KeratoacanthomaEnrichmentNOTCH1, NOTCH21.98
323Apc-associated polyposis conditionsEnrichmentAPC, STK111.98
324Saczary syndromeEnrichmentCD28, TNFRSF1B1.98
325Brittle bone disorderEnrichmentBMP1, COL1A1, COL1A2, LRP5, WNT11.98
326Acute promyelocytic leukemiaEnrichmentPRKAR1A, STAT3, STAT5B1.96
327Migraine with or without aura 1EnrichmentCACNA1A, CAPN3, ESR11.95
328Macular dystrophy, vitelliform, 2EnrichmentIMPG1, IMPG21.93
329Visceral myopathy 1EnrichmentACTG2, MYH111.93
330Retinal detachmentEnrichmentCOL2A1, COL9A31.93
331Congenital myopathy 3 with rigid spineEnrichmentACTA1, MYH71.93
332Insulin-like growth factor iEnrichmentIGF1, IGF1R1.93
333Ventricular septal defect 1EnrichmentBMP2, BMP71.93
334Congenital ptosisEnrichmentCOL25A1, MYH101.93
335Acute myeloid leukemia with maturationEnrichmentFLT3, KIT1.93
336HoloprosencephalyEnrichmentFGF8, FGFR11.93
337Juvenile glaucomaEnrichmentEFEMP1, LTBP21.93
338Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT1.93
339Familial porencephalyEnrichmentCOL4A1, COL4A21.93
340CataractEnrichmentCOL18A1, COL5A1, EPHA21.92
341Cleft lip/palateEnrichmentBMP4, CDH1, PDGFRA1.92
342Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, DSP, TGFB31.92
343Tetralogy of fallotEnrichmentEPHB4, FLNC, FLT4, KDR1.90
344Knobloch syndrome 1EnrichmentCOL18A1, PAK21.89
345Isolated macular dystrophyEnrichmentCOL4A5, IMPG1, ITGA41.86
346Ellis-van creveld syndromeEnrichmentGLI1, PRKACA, PRKACB1.86
347Colonic benign neoplasmEnrichmentAPC, ATM, CHEK21.86
348ScoliosisEnrichmentCOL2A1, EFEMP1, FBN1, GFAP1.84
349Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, MYH7, MYL21.83
350Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, ZAP701.83
351Myocardial infarctionEnrichmentESR1, ITGB3, LTA, TNFSF41.82
352Distal arthrogryposisEnrichmentACTA1, COL25A1, MYH3, MYL11, ROR21.80
353Polycystic liver diseaseEnrichmentCDC25A, CTNNB1, LRP5, LRP61.79
354Autosomal dominant polycystic liver diseaseEnrichmentCDC25A, CTNNB1, LRP5, LRP61.79
355Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS1, PTCH11.79
356Atrial septal defect 1EnrichmentBMP2, TGFB21.77
357Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A21.77
358Corneal dystrophy, posterior polymorphous, 1EnrichmentCOL8A2, ZEB11.77
359Cowden syndrome 1EnrichmentEGFR, PTEN1.77
360Fraser syndrome 1EnrichmentFRAS1, FREM21.77
361Split-hand/foot malformation 1EnrichmentFGFR2, LEF11.77
362Hemihyperplasia, isolatedEnrichmentIGF2, RHOA1.77
363Holoprosencephaly 1EnrichmentFGF8, FGFR11.77
364Type 1 diabetes mellitusEnrichmentHNF1A, IL61.77
365Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGB4, MYO61.77
366Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A21.77
367Intestinal pseudo-obstructionEnrichmentACTG2, MYH111.77
36846,xy disorder of sex developmentEnrichmentFGFR3, INSR1.77
369Typical nemaline myopathyEnrichmentACTA1, CFL21.77
370Hypertrophic cardiomyopathyEnrichmentACTN2, MYH7, MYH7B, MYL2, MYL31.76
371Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN2, DSP, FLNC1.75
372HypertensionEnrichmentCOL4A4, COL4A5, MYH91.75
373Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D4, GNAT1, GNB31.75
374AniridiaEnrichmentEPHA2, PAX61.74
375Melanoma, uvealEnrichmentGNA11, PLCB41.73
376Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK1, TGFB11.73
377Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP531.73
378Stroke, ischemicEnrichmentFBN1, NOTCH3, PRKCH1.73
379Erythrocytosis, familial, 1EnrichmentEPOR, JAK21.70
380Small cell cancer of the lungEnrichmentRB1, TP531.70
381Erythrocytosis, familial, 2EnrichmentFANCD2, VHL1.70
382Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA1, CTNNA11.70
383Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF11.70
384CholangiocarcinomaEnrichmentBRCA1, ROS11.70
385Mantle cell lymphomaEnrichmentATM, CCND11.70
386TubulinopathyEnrichmentTUBB2A, TUBB2B1.70
387Retinopathy of prematurityEnrichmentFZD4, LRP51.70
388Tuberous sclerosisEnrichmentTSC1, TSC21.70
389Embryonal rhabdomyosarcomaEnrichmentNF1, TP531.70
390Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC421.70
391Pilocytic astrocytomaEnrichmentKRAS, NF11.70
392Oculomotor apraxiaEnrichmentATM, SUFU1.70
393Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK1, SOS21.70
394Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D4, GNAT21.65
395Meniere diseaseEnrichmentCDH23, MYO7A1.63
396Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A21.63
397Glaucoma 3, primary congenital, aEnrichmentLTBP2, TEK1.63
398Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA1.63
399Waardenburg syndrome, type 2eEnrichmentKITLG, SNAI21.63
400Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK11.63
401Familial isolated restrictive cardiomyopathyEnrichmentFLNC, MYL21.63
402Beckwith-wiedemann syndromeEnrichmentCOL6A1, COL7A1, IGF21.61
403Patent foramen ovaleEnrichmentFLNA, FLNC, MYH61.61
404Meningioma, familialEnrichmentPDGFB, PTEN, SUFU1.61
405Familial colorectal cancer type xEnrichmentATM, BMPR1A, CHEK21.61
406Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB31.59
407Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, STAT41.59
408Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, STAT41.59
409Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF, PAX61.58
410Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB2, SEMA3A1.57
411HypertelorismEnrichmentCOL11A1, COL1A1, ELN, FGFR2, PAX6, RPS6KA31.56
412Arthrogryposis, distal, type 1aEnrichmentMET, MYH31.52
413Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB1.52
414Hemochromatosis, type 1EnrichmentBMP2, BMP61.52
415MyocarditisEnrichmentDSP, MYH71.52
416Genetic steroid-resistant nephrotic syndromeEnrichmentACTN4, COL4A3, LAMA5, MYO1E1.51
417Septooptic dysplasiaEnrichmentFGFR1, SOX2, SOX31.50
418Capillary malformations, congenitalEnrichmentGNA11, RASA11.50
419Fanconi anemia, complementation group d2EnrichmentFANCD2, VHL1.50
420Familial adenomatous polyposis 1EnrichmentAPC, STK111.50
421Robinow syndrome, autosomal dominant 2EnrichmentDVL1, FZD21.50
422Myeloproliferative neoplasmEnrichmentCBL, JAK21.50
423Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSOX3, SOX91.50
424Vascular dementiaEnrichmentNOTCH3, TNF1.50
425Acute megakaryocytic leukemiaEnrichmentPTEN, TP531.50
426Diffuse cutaneous systemic sclerosisEnrichmentCCN2, CCR61.50
427Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RA, CSF2RB1.50
428Maturity-onset diabetes of the youngEnrichmentHNF1A, HNF1B, HNF4A1.49
429MicrocephalyEnrichmentABL1, CAMK2B, COL4A1, COL7A1, CTNNB1, EP300, GNAO1, GNB1, IGF1R, MAPK1, NBN, SYNGAP1, TCF41.48
430Gastroesophageal refluxEnrichmentCOL5A1, RPS6KA31.48
431Renal hypodysplasia/aplasia 1EnrichmentFRAS1, ITGA81.48
432LissencephalyEnrichmentNBN, TUBB2B, TUBB3, TUBG11.47
433Left ventricular noncompactionEnrichmentACTN2, DSP, MYH7, MYH7B1.46
434Stickler syndrome, type iEnrichmentCOL2A11.45
435Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.45
436Lymphatic malformation 5EnrichmentEPHB41.45
437Bladder diverticulumEnrichmentEFEMP11.45
438Cryptophthalmos, unilateral or bilateral, isolatedEnrichmentFREM21.45
439Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecansEnrichmentACAN1.45
440Brachydactyly, type b1EnrichmentROR21.45
441Erythroleukemia, familialEnrichmentERBB31.45
442HypochondroplasiaEnrichmentFGFR31.45
443Boomerang dysplasiaEnrichmentFLNB1.45
444Proteus syndromeEnrichmentAKT11.45
445Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.45
446Paget disease, extramammaryEnrichmentERBB21.45
447Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN11.45
448Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A11.45
449Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A11.45
450Osteoglophonic dysplasiaEnrichmentFGFR11.45
451Hepatic adenomas, familialEnrichmentHNF1A1.45
452Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A11.45
453Thanatophoric dysplasia, type iEnrichmentFGFR31.45
454Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.45
455Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndromeEnrichmentCDH31.45
456Elsahy-waters syndromeEnrichmentCDH111.45
457Trigonocephaly 1EnrichmentFGFR11.45
458Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.45
459Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A21.45
460Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A11.45
461Donohue syndromeEnrichmentINSR1.45
462Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1aEnrichmentMYH31.45
463Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A11.45
464Spinocerebellar ataxia 27aEnrichmentFGF141.45
465Baraitser-winter syndrome 1EnrichmentACTB1.45
466Hypothyroidism, congenital, nongoitrous, 9EnrichmentIRS41.45
467Muenke syndromeEnrichmentFGFR31.45
468Vacterl association with hydrocephalusEnrichmentPTEN1.45
469Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.45
470Alport syndrome 1, x-linkedEnrichmentCOL4A51.45
471Focal segmental glomerulosclerosis 1EnrichmentACTN41.45
472Deafness, autosomal recessive 53EnrichmentCOL11A21.45
473Systemic lupus erythematosus 6EnrichmentITGAM1.45
474Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.45
475Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC31.45
476Deafness, autosomal recessive 2EnrichmentMYO7A1.45
477Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A11.45
478Otopalatodigital syndrome, type iEnrichmentFLNA1.45
479Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA1.45
480Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A11.45
481Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.45
482Hypomagnesemia 4, renalEnrichmentEGF1.45
483Czech dysplasiaEnrichmentCOL2A11.45
484Glaucoma 3, primary congenital, dEnrichmentLTBP21.45
485Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.45
486Microphthalmia, isolated 4EnrichmentGDF61.45
487Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.45
488Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A11.45
489Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.45
490Deafness, autosomal dominant 17EnrichmentMYH91.45
491Deafness, autosomal dominant 48EnrichmentMYO1A1.45
492Glaucoma 1, open angle, hEnrichmentEFEMP11.45
493Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.45
494Deafness, autosomal recessive 39EnrichmentHGF1.45
495Corneal dystrophy, posterior polymorphous, 2EnrichmentCOL8A21.45
496Mastocytosis, cutaneousEnrichmentKIT1.45
497Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL31.45
498Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN21.45
499Tubulointerstitial kidney disease, autosomal dominant 2EnrichmentMUC11.45
500Spinocerebellar ataxia 12EnrichmentPPP2R2B1.45
501Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.45
502Intellectual developmental disorder, autosomal dominant 3EnrichmentCDH151.45
503Mitral valve prolapse 2EnrichmentDCHS11.45
504Marshall syndromeEnrichmentCOL11A11.45
505Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.45
506Kniest dysplasiaEnrichmentCOL2A11.45
507Apert syndromeEnrichmentFGFR21.45
508Neuroblastoma 3EnrichmentALK1.45
509Cardiomyopathy, dilated, 1jjEnrichmentLAMA41.45
510Deafness, autosomal dominant 22EnrichmentMYO61.45
511Transient bullous dermolysis of the newbornEnrichmentCOL7A11.45
512Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.45
513Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.45
514Corneal dystrophy, fuchs endothelial, 1EnrichmentCOL8A21.45
515Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A11.45
516Atelosteogenesis, type iiiEnrichmentFLNB1.45
517Prostate cancer, hereditary, 11EnrichmentHNF1B1.45
518Atelosteogenesis, type iEnrichmentFLNB1.45
519Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A11.45
520Myofibromatosis, infantile, 1EnrichmentPDGFRB1.45
521Fibrochondrogenesis 1EnrichmentCOL11A11.45
522Lipoid proteinosis of urbach and wietheEnrichmentECM11.45
523Thanatophoric dysplasia, type iiEnrichmentFGFR31.45
524Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A11.45
525Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A1.45
526Myopathy, scapulohumeroperonealEnrichmentACTA11.45
527Lethal congenital contracture syndrome 2EnrichmentERBB31.45
528Lissencephaly 5EnrichmentLAMB11.45
529Weill-marchesani syndrome 2EnrichmentFBN11.45
530Cardiomyopathy, dilated, 1eeEnrichmentMYH61.45
531Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.45
532Sick sinus syndrome 3EnrichmentMYH61.45
533Griscelli syndrome, type 1EnrichmentMYO5A1.45
534Fetal encasement syndromeEnrichmentCHUK1.45
535Retinitis pigmentosa 56EnrichmentIMPG21.45
536Ciliary dyskinesia, primary, 33EnrichmentDRC41.45
537Deafness, autosomal dominant 56EnrichmentTNC1.45
538Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.45
539Gist-plus syndromeEnrichmentPDGFRA1.45
540Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.45
541Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.45
542Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.45
543Geleophysic dysplasia 2EnrichmentFBN11.45
544Protrusio acetabuliEnrichmentFBN11.45
545Aplasia of lacrimal and salivary glandsEnrichmentFGF101.45
546Bent bone dysplasia syndrome 1EnrichmentFGFR21.45
547Acrogeria, gottron typeEnrichmentCOL3A11.45
548Epiphyseal dysplasia, multiple, 6EnrichmentCOL9A11.45
549Weill-marchesani syndrome 3EnrichmentLTBP21.45
550Achondrogenesis, type iiEnrichmentCOL2A11.45
551Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.45
552Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.45
553Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.45
554Teebi hypertelorism syndrome 2EnrichmentCDH111.45
555Noonan syndrome 13EnrichmentMAPK11.45
556Deafness, autosomal recessive 108EnrichmentROR11.45
557Macular degeneration, early-onsetEnrichmentFBN21.45
558Macular dystrophy, vitelliform, 4EnrichmentIMPG11.45
559Fraser syndrome 2EnrichmentFREM21.45
560Nephrotic syndrome, type 26EnrichmentLAMA51.45
561Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.45
562Developmental and epileptic encephalopathy 58EnrichmentNTRK21.45
563Multiple synostoses syndrome 4EnrichmentGDF61.45
564Myasthenic syndrome, congenital, 19EnrichmentCOL13A11.45
565Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.45
566Deafness, x-linked 6EnrichmentCOL4A61.45
567Intellectual developmental disorder, x-linked 110EnrichmentFGF131.45
568Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.45
569Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.45
570Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.45
571Epiphyseal dysplasia, multiple, 2EnrichmentCOL9A21.45
572Deafness, autosomal dominant 4aEnrichmentMYH141.45
573Terminal osseous dysplasiaEnrichmentFLNA1.45
574Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.45
575Congenital myopathy 8EnrichmentACTN21.45
576Ullrich congenital muscular dystrophy 1bEnrichmentCOL6A21.45
577Hyperemesis gravidarumEnrichmentGDF151.45
578Cutis laxa, autosomal recessive, type idEnrichmentEFEMP11.45
579Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.45
580Deafness, autosomal recessive 125EnrichmentGAS21.45
581Short syndromeEnrichmentPIK3R11.45
582Houge-janssens syndrome 4EnrichmentPPP2R5C1.45
583Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A21.45
584Hereditary lymphedema idEnrichmentVEGFC1.45
585Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.45
586Fg syndrome 2EnrichmentFLNA1.45
587Osteofibrous dysplasiaEnrichmentMET1.45
588Complete cryptophthalmiaEnrichmentFREM21.45
589Deafness, autosomal recessive 37EnrichmentMYO61.45
590Microphthalmia, syndromic 6EnrichmentBMP41.45
591Spondyloperipheral dysplasiaEnrichmentCOL2A11.45
592Myosclerosis, autosomal recessiveEnrichmentCOL6A21.45
593PorencephalyEnrichmentCOL4A11.45
594Ullrich congenital muscular dystrophy 1cEnrichmentCOL6A31.45
595Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.45
596Deafness, autosomal dominant 37EnrichmentCOL11A11.45
597Lymphoplasmacytic lymphomaEnrichmentFBN11.45
598Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.45
599Diarrhea 15, congenitalEnrichmentMYO1A1.45
600Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.45
601Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH21.45
602Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.45
603Developmental and epileptic encephalopathy 90EnrichmentFGF131.45
604Orofacial cleft 11EnrichmentBMP41.45
605Metacarpal 4-5 fusionEnrichmentFGF161.45
606Epiphyseal dysplasia, multiple, 3EnrichmentCOL9A31.45
607Lymphatic malformation 4EnrichmentVEGFC1.45
608Papillary tumor of the pineal regionEnrichmentPTEN1.45
609Atrial fibrillation, familial, 18EnrichmentMYL41.45
610Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.45
611Familial isolated trichomegalyEnrichmentFGF51.45
612Nemaline myopathy 7EnrichmentCFL21.45
613Houge-janssens syndrome 2EnrichmentPPP2R1A1.45
614Spondyloepimetaphyseal dysplasia, aggrecan typeEnrichmentACAN1.45
615Deafness, autosomal dominant 11EnrichmentMYO7A1.45
616Deafness, autosomal dominant 13EnrichmentCOL11A21.45
617Deafness, autosomal recessive 97EnrichmentMET1.45
618Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.45
619Microvascular complications of diabetes 1EnrichmentVEGFA1.45
620Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.45
621Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.45
622Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.45
623HypotrichosisEnrichmentCDH31.45
624Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.45
625Camurati-engelmann disease 2EnrichmentTGFB21.45
626Actn3 deficiencyEnrichmentACTN31.45
627Geleophysic dysplasia 3EnrichmentLTBP31.45
628Spondyloepiphyseal dysplasia, kimberley typeEnrichmentACAN1.45
629Otopalatodigital syndrome spectrum disorderEnrichmentFLNA1.45
630Epidermolysis bullosa pruriginosaEnrichmentCOL7A11.45
631Deafness, autosomal recessive 30EnrichmentMYO3A1.45
632Becker nevus syndromeEnrichmentACTB1.45
633Celiac disease 4EnrichmentMYO9B1.45
634Dystonia-deafness syndrome 1EnrichmentACTB1.45
635Autism 9EnrichmentMET1.45
636Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A11.45
637Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.45
638Cardiomyopathy, familial hypertrophic, 14EnrichmentMYH61.45
639Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH21.45
640Stickler syndrome, type ivEnrichmentCOL9A11.45
641Glaucoma 1, open angle, oEnrichmentNTF41.45
642Cortical malformations, occipitalEnrichmentLAMC31.45
643Iron overloadEnrichmentBMP61.45
644Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.45
645Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.45
646Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.45
647Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.45
648Multiple sclerosis 5EnrichmentTNFRSF1A1.45
649Craniosynostosis 3EnrichmentTCF121.45
650Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.45
651Leber congenital amaurosis 17EnrichmentGDF61.45
652Cowden syndrome 6EnrichmentAKT11.45
653Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.45
654Amyotrophic lateral sclerosis 19EnrichmentERBB41.45
655Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongueEnrichmentLIMS21.45
656Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.45
657Bleeding disorder, platelet-type, 15EnrichmentACTN11.45
658Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH141.45
659Nasopharyngeal carcinoma 3EnrichmentMST1R1.45
660Fibrochondrogenesis 2EnrichmentCOL11A21.45
661Dystonia 27EnrichmentCOL6A31.45
662Achromatopsia 7EnrichmentATF61.45
663Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.45
664Autosomal dominant familial visceral neuropathyEnrichmentACTG21.45
665Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.45
666Thyroid gland diseaseEnrichmentCOL7A11.45
667Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.45
668Type 1 diabetes mellitus 20EnrichmentHNF1A1.45
669Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.45
670Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.45
671Focal segmental glomerulosclerosis 6EnrichmentMYO1E1.45
672Glioma susceptibility 2EnrichmentPTEN1.45
673Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF41.45
674Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.45
675Kosaki overgrowth syndromeEnrichmentPDGFRB1.45
676Stickler syndrome, type vEnrichmentCOL9A21.45
677Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.45
678Hartsfield syndromeEnrichmentFGFR11.45
679Congenital heart defects, multiple types, 7EnrichmentFLT41.45
680Loeys-dietz syndrome 5EnrichmentTGFB31.45
681Renal hypodysplasia/aplasia 2EnrichmentFGF201.45
682Macular dystrophy, vitelliform, 5EnrichmentIMPG21.45
683Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.45
684Bleeding disorder, platelet-type, 22EnrichmentEPHB21.45
68520p12.3 microdeletion syndromeEnrichmentBMP21.45
686Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.45
687X-linked ehlers-danlos syndromeEnrichmentFLNA1.45
688Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.45
689Takenouchi-kosaki syndromeEnrichmentCDC421.45
690Glaucoma 3, primary congenital, eEnrichmentTEK1.45
691Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.45
692Bartsocas-papas syndrome 2EnrichmentCHUK1.45
693Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.45
694Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.45
695Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN21.45
696Qualitative or quantitative defects of collagen 6EnrichmentCOL6A21.45
697Deafness, autosomal dominant 90EnrichmentMYO3A1.45
698Myasthenic syndrome, congenital, 24, presynapticEnrichmentMYO9A1.45
699Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.45
700Developmental and epileptic encephalopathy 47EnrichmentFGF121.45
701Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.45
702Congenital myopathy 14EnrichmentMYL11.45
703Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.45
704Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.45
705Chronic mast cell leukemiaEnrichmentKIT1.45
706Premature ovarian failure 14EnrichmentGDF91.45
707Warburg-cinotti syndromeEnrichmentDDR21.45
708Bent bone dysplasia syndrome 2EnrichmentLAMA51.45
709Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A11.45
710Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A11.45
711Immunodeficiency 129EnrichmentRHOH1.45
712Tufted angioma of skinEnrichmentKDR1.45
713Developmental delay with variable intellectual impairment and behavioral abnormalitiesEnrichmentTCF201.45
714Asphyxia neonatorumEnrichmentCOL1A11.45
715Deafness, autosomal dominant 69EnrichmentKITLG1.45
716Bethlem myopathy 1bEnrichmentCOL6A21.45
717Tsh producing pituitary tumorEnrichmentCDH231.45
718Attention deficit-hyperactivity disorder 8EnrichmentCDH21.45
719Thrombocytopenia 9EnrichmentTHPO1.45
720Fibrosis of extraocular muscles, congenital, 5EnrichmentCOL25A11.45
721Adenoid ameloblastomaEnrichmentCTNNB11.45
722Arthrogryposis, distal, type 11EnrichmentMET1.45
723Amelogenesis imperfecta, type ihEnrichmentITGB61.45
724Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.45
725Baraitser-winter syndromeEnrichmentACTB1.45
726Late-onset junctional epidermolysis bullosaEnrichmentCOL17A11.45
727Csf1r-related disorderEnrichmentCSF1R1.45
728Col4a1-related disordersEnrichmentCOL4A11.45
729Occipital pachygyria and polymicrogyriaEnrichmentLAMC31.45
730Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.45
731Skin fragility-woolly hair-palmoplantar keratoderma syndromeEnrichmentDSP1.45
732Usher syndrome type 1bEnrichmentMYO7A1.45
733Bockenheimer syndromeEnrichmentTEK1.45
734Bethlem myopathy 1cEnrichmentCOL6A31.45
735Retinal lattice degenerationEnrichmentCOL9A31.45
736T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.45
737Capillary hemangiomaEnrichmentAKT31.45
738Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.45
739Klippel-feil syndromeEnrichmentMYO18B1.45
740Flnb-related disordersEnrichmentFLNB1.45
741Breast lobular carcinomaEnrichmentCDH11.45
742Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A1.45
743Anus diseaseEnrichmentFREM21.45
744Isolated bone marrow mastocytosisEnrichmentKIT1.45
745Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.45
746Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A11.45
747Smoldering systemic mastocytosisEnrichmentKIT1.45
748Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.45
749Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A11.45
750Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A11.45
751Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.45
752Alk-positive anaplastic large cell lymphomaEnrichmentALK1.45
753Zebra body myopathyEnrichmentACTA11.45
754Spinocerebellar ataxia type 27bEnrichmentFGF141.45
755HypochondrogenesisEnrichmentCOL2A11.45
756Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.45
757Fgfr3-related chondrodysplasiaEnrichmentFGFR31.45
758Congenital smooth muscle hamartomaEnrichmentACTB1.45
759X-linked alport syndromeEnrichmentCOL4A51.45
760PneumothoraxEnrichmentCOL5A11.45
761Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.45
762Nocarh syndromeEnrichmentCDC421.45
763Autosomal recessive limb-girdle muscular dystrophy type 2wEnrichmentLIMS21.45
764MastocytosisEnrichmentKIT1.45
765Congenital primary lymphedema of gordonEnrichmentVEGFC1.45
766Aplasia cutis-enamel dysplasia syndromeEnrichmentFOSL21.45
767Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A11.45
768Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.45
769Osteochondritis dissecansEnrichmentACAN1.45
770Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.45
771Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.45
772Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeEnrichmentCOL11A11.45
773Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.45
774Familial progressive hyperpigmentationEnrichmentKITLG1.45
775DysspondyloenchondromatosisEnrichmentCOL2A11.45
776Cystic lymphangiomaEnrichmentCOL11A21.45
777Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.45
778Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.45
779Abdominal aortic aneurysmEnrichmentCOL3A11.45
780Cutaneous mastocytomaEnrichmentKIT1.45
781Lethal arteriopathy syndrome due to fibulin-4 deficiencyEnrichmentEFEMP21.45
782Neonatal marfan syndromeEnrichmentFBN11.45
783Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A11.45
784X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA1.45
785Typical urticaria pigmentosaEnrichmentKIT1.45
786Medullary sponge kidneyEnrichmentHNF1B1.45
787Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.45
788Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.45
789Actin-accumulation myopathyEnrichmentACTA11.45
790Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.45
791Nodular urticaria pigmentosaEnrichmentKIT1.45
792Renal dysplasia, bilateralEnrichmentHNF1B1.45
793Premature agingEnrichmentVIM1.45
794Unilateral multicystic dysplastic kidneyEnrichmentHNF1B1.45
795Type 2 collagen-related bone disorderEnrichmentCOL2A11.45
796Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.45
797Alk-positive large b-cell lymphomaEnrichmentALK1.45
798Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.45
799Lama5-related multisystemic syndromeEnrichmentLAMA51.45
800Renal dysplasia, unilateralEnrichmentHNF1B1.45
801Telangiectasia macularis eruptiva perstansEnrichmentKIT1.45
802Acute mast cell leukemiaEnrichmentKIT1.45
803Myopathic intestinal pseudoobstructionEnrichmentACTG21.45
804Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.45
805Short stature-advanced bone age-early-onset osteoarthritis syndromeEnrichmentACAN1.45
806CryptophthalmiaEnrichmentFREM21.45
807Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.45
808Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.45
809Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.45
810Plaque-form urticaria pigmentosaEnrichmentKIT1.45
811Interstitial lung disease specific to childhoodEnrichmentFGF101.45
812Serous carcinoma of the corpus uteriEnrichmentERBB21.45
813Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.45
814Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A11.45
815Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.45
816Microcystic stromal tumorEnrichmentCTNNB11.45
817Temporomandibular joint anomalyEnrichmentDOCK11.45
818Actg2 visceral myopathyEnrichmentACTG21.45
819Vein of galen aneurysmal malformationEnrichmentEPHB41.45
820Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA21.45
821Akt2-related familial partial lipodystrophyEnrichmentAKT21.45
822Testis seminomaEnrichmentKIT1.45
823Brugada syndrome 1EnrichmentCACNA2D1, FBN11.44
824Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A5, PLCE11.44
825Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.43
826Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.43
827Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.43
828Coffin-lowry syndromeEnrichmentRPS6KA31.43
829Oculoectodermal syndromeEnrichmentKRAS1.43
830Intellectual developmental disorder, x-linked 30EnrichmentPAK31.43
831Pallister-killian syndromeEnrichmentARAF1.43
832Type 1 diabetes mellitus 10EnrichmentIL2RA1.43
833Noonan syndrome 5EnrichmentRAF11.43
834Noonan syndrome 4EnrichmentSOS11.43
835Pseudohypoparathyroidism, type icEnrichmentGNAS1.43
836Leprosy 4EnrichmentLTA1.43
837Carney complex, type 1EnrichmentPRKAR1A1.43
838Melorheostosis, isolatedEnrichmentMAP2K11.43
839Osseous heteroplasia, progressiveEnrichmentGNAS1.43
840Noonan syndrome 7EnrichmentBRAF1.43
841Leopard syndrome 3EnrichmentBRAF1.43
842Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.43
843Cardiomyopathy, dilated, 1nnEnrichmentRAF11.43
844Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.43
845Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.43
846Melanosis, neurocutaneousEnrichmentNRAS1.43
847Noonan syndrome 9EnrichmentSOS21.43
848Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.43
849Noonan syndrome 6EnrichmentNRAS1.43
850Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.43
851Deafness, autosomal recessive 44EnrichmentADCY11.43
852Frontometaphyseal dysplasia 2EnrichmentMAP3K71.43
853Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.43
854Ventricular tachycardia, familialEnrichmentGNAI21.43
855Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.43
856Noonan syndrome 11EnrichmentMRAS1.43
857Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.43
858Pseudo-torch syndrome 3EnrichmentSTAT21.43
859Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.43
860Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.43
861Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.43
862Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.43
863Pituitary adenoma 3, multiple typesEnrichmentGNAS1.43
864Knobloch syndrome 2EnrichmentPAK21.43
865Disabling pansclerotic morphea of childhoodEnrichmentSTAT41.43
866Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.43
867Bone marrow failure syndrome 5EnrichmentTP531.43
868Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.43
869Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.43
870Papilloma of choroid plexusEnrichmentTP531.43
871Pseudohypoaldosteronism, type iicEnrichmentWNK11.43
872Auriculocondylar syndrome 2aEnrichmentPLCB41.43
873Basal cell carcinoma 7EnrichmentTP531.43
874Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.43
875Anaplastic thyroid carcinomaEnrichmentTP531.43
876Cardioacrofacial dysplasia 2EnrichmentPRKACB1.43
877T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.43
878Systemic lupus erythematosus 11EnrichmentSTAT41.43
879Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.43
880Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.43
881Myxoma, intracardiacEnrichmentPRKAR1A1.43
882Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.43
883Asthma-related traits 5EnrichmentIRAK31.43
884Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.43
885Developmental and epileptic encephalopathy 17EnrichmentGNAO11.43
886Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.43
887Cardiomyopathy, dilated, 1wEnrichmentVCL1.43
888LymphangiomaEnrichmentBRAF1.43
889Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.43
890Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A1.43
891Phace associationEnrichmentBRAF1.43
892Spinocerebellar ataxia 14EnrichmentPRKCG1.43
893MelorheostosisEnrichmentMAP2K11.43
894Immunodeficiency 67EnrichmentIRAK41.43
895Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.43
896Leopard syndrome 2EnrichmentRAF11.43
897Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.43
898Immunodeficiency 31aEnrichmentSTAT11.43
899Dystonia 25EnrichmentGNAL1.43
900Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.43
901Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.43
902Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.43
903Night blindness, congenital stationary, type 1gEnrichmentGNAT11.43
904Hypocalcemia, autosomal dominant 2EnrichmentGNA111.43
905Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.43
906Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.43
907Immunodeficiency 31bEnrichmentSTAT11.43
908Disorders of gnas inactivationEnrichmentGNAS1.43
909Ductal carcinoma in situEnrichmentTP531.43
910Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.43
911Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.43
912Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.43
913Cardioacrofacial dysplasia 1EnrichmentPRKACA1.43
914Thrombocytopenia 6EnrichmentSRC1.43
915Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.43
916Sick sinus syndrome 4EnrichmentGNB21.43
917Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.43
918TrigonitisEnrichmentRAF11.43
919Thyroid gland undifferentiated carcinomaEnrichmentTP531.43
920Auriculocondylar syndrome 2bEnrichmentPLCB41.43
921Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.43
922Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.43
923Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.43
924Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.43
925Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.43
9265q14.3 microdeletion syndromeEnrichmentMEF2C1.43
927Congenital pulmonary airway malformationEnrichmentKRAS1.43
928Cerebral cavernous malformations 5EnrichmentMAP3K31.43
929Choroid plexus cancerEnrichmentTP531.43
930Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.43
931Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.43
932Capillary leak syndromeEnrichmentTLN11.43
933Syringocystadenoma papilliferumEnrichmentBRAF1.43
934Pleomorphic xanthoastrocytomaEnrichmentTP531.43
935GangliogliomaEnrichmentBRAF1.43
936Nongerminomatous germ cell tumorEnrichmentBRAF1.43
937Monostotic fibrous dysplasiaEnrichmentGNAS1.43
938Phace syndromeEnrichmentBRAF1.43
939Gnao1-related disorderEnrichmentGNAO11.43
940Phakomatosis pigmentokeratoticaEnrichmentHRAS1.43
941Mef2c-related disorderEnrichmentMEF2C1.43
942Classic hairy cell leukemiaEnrichmentBRAF1.43
943Phakomatosis cesiomarmorataEnrichmentGNA111.43
944Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.43
945Verrucous hemangiomaEnrichmentMAP3K31.43
946Kaposiform hemangioendotheliomaEnrichmentGNA141.43
947Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.43
948Mazabraud syndromeEnrichmentGNAS1.43
949Neurocutaneous melanocytosisEnrichmentNRAS1.43
950Cowden syndromeEnrichmentAKT1, PTEN1.42
951Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentDSP, MYH71.42
952Familial isolated dilated cardiomyopathyEnrichmentACTN2, DSP, LAMA4, MYH6, MYH71.41
953Aortic valve disease 1EnrichmentNOTCH1, SOS1, TAB21.41
954Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A2, WNT11.41
955Alzheimer's diseaseEnrichmentCSF1R, PSEN1, TNF1.41
956Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.40
957Immunodeficiency 50EnrichmentMSN1.40
958Deafness, autosomal recessive 24EnrichmentRDX1.40
959Cardiac valvular dysplasia 1EnrichmentPLD11.40
960Lichtenstein-knorr syndromeEnrichmentSLC9A11.40
961Nephrotic syndrome, type 8EnrichmentARHGDIA1.40
962Wiskott-aldrich syndrome 2EnrichmentWIPF11.40
963Scapuloperoneal syndrome, neurogenic, kaeser typeEnrichmentDES1.40
964Immunodeficiency 62EnrichmentARHGEF11.40
965Angioedema, hereditary, 5EnrichmentANGPT11.40
966Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.40
967Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.40
968Lymphoproliferative syndrome 3EnrichmentCD701.40
969Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG1.40
970Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL71.40
971Ovarian dysgenesis 2EnrichmentBMP151.40
972Graft-versus-host diseaseEnrichmentIL101.40
973Isolated growth hormone deficiency type iiiEnrichmentBTK1.40
974Spermatogenic failure 99EnrichmentSEPTIN41.40
975Amyotrophic neuralgiaEnrichmentSEPTIN91.40
976Allergic rhinitisEnrichmentIL131.40
977Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.40
978Auditory neuropathy, autosomal dominant 1EnrichmentDIAPH31.40
979Immunodeficiency 29EnrichmentIL12B1.40
980Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.40
981Immature teratoma of ovaryEnrichmentBMP151.40
982Cd40 ligand deficiencyEnrichmentCD40LG1.40
983Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF121.40
984Fetal akinesia deformation sequence 1EnrichmentACTA1, FBN2, MUSK, ROR21.39
985Inflammatory bowel disease 1EnrichmentIL6, PRKCQ1.38
986Renal agenesis, bilateralEnrichmentFGF20, ITGA81.38
987Thyrotoxic periodic paralysis 1EnrichmentCACNA1S1.35
988Epilepsy, idiopathic generalized 9EnrichmentCACNB41.35
989Brugada syndrome 4EnrichmentCACNB21.35
990Episodic ataxia, type 5EnrichmentCACNB41.35
991Cerebellofaciodental syndromeEnrichmentBRF11.35
992Vitreoretinopathy, neovascular inflammatoryEnrichmentCAPN51.35
993Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I1.35
994Congenital myopathy 18EnrichmentCACNA1S1.35
995Pulmonary hypertension, primary, 6EnrichmentCAPNS11.35
996Immunodeficiency 48EnrichmentZAP701.35
997Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F1.35
998Retinal cone dystrophy 4EnrichmentCACNA2D41.35
999Immunodeficiency 18EnrichmentCD3E1.35
1000Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D1.35
1001Immunodeficiency 25EnrichmentCD2471.35
1002Brugada syndrome 3EnrichmentCACNA1C1.35
1003Epilepsy, childhood absence 6EnrichmentCACNA1H1.35
1004Malignant hyperthermia 5EnrichmentCACNA1S1.35
1005Ovarian dysgenesis 8EnrichmentESR21.35
1006Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG21.35
1007Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D1.35
1008Polydactyly-macrocephaly syndromeEnrichmentMAX1.35
1009Spinocerebellar ataxia 42EnrichmentCACNA1G1.35
1010Developmental and epileptic encephalopathy 110EnrichmentCACNA2D11.35
1011Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.35
1012Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G1.35
1013Developmental and epileptic encephalopathy 69EnrichmentCACNA1E1.35
1014Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.35
1015Hyperaldosteronism, familial, type ivEnrichmentCACNA1H1.35
1016Polycystic ovary syndromeEnrichmentCAPN101.35
1017Immunodeficiency 19, severe combinedEnrichmentCD3D1.35
1018Conn's syndromeEnrichmentCACNA1H1.35
1019Inner ear diseaseEnrichmentBRF11.35
1020Progressive muscular atrophyEnrichmentCAPN31.35
1021Sporadic hemiplegic migraineEnrichmentCACNA1A1.35
1022Atypical timothy syndromeEnrichmentCACNA1C1.35
1023Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D1.35
1024Immunodeficiency 19EnrichmentCD3D1.35
1025Timothy syndrome type 2EnrichmentCACNA1C1.35
1026Qualitative or quantitative defects of calpainEnrichmentCAPN31.35
1027Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S1.35
1028Timothy syndrome type 1EnrichmentCACNA1C1.35
1029Zap70-related severe combined immunodeficiencyEnrichmentZAP701.35
1030Cacna1c-related disordersEnrichmentCACNA1C1.35
1031Benign paroxysmal torticollis of infancyEnrichmentCACNA1A1.35
1032Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, CDKN2A, FLT3, MYC1.34
1033Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3001.34
1034Wilms tumor 5EnrichmentBRAF, CHEK21.34
1035Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3001.34
1036Chronic mucocutaneous candidiasisEnrichmentIL17RA, IL17RC1.34
1037Limited sclerodermaEnrichmentCCN2, CCR61.34
1038Cleft lip with or without cleft palateEnrichmentCDH1, CTNND11.34
1039Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R1, TCF31.33
1040Congenital muscular dystrophyEnrichmentCAPN3, LAMA21.33
1041PheochromocytomaEnrichmentMAX, NF1, VHL1.32
1042AchromatopsiaEnrichmentATF6, GNAT21.29
1043Usher syndrome type 2EnrichmentCDH23, MYO7A1.25
1044Polydactyly, postaxial, type a1EnrichmentEP300, GLI1, PTCH11.24
1045Wilms tumor 1EnrichmentBRAF, CHEK2, IGF21.24
1046HydrocephalusEnrichmentFGFR2, FZD3, PDGFRB1.24
1047Lynch syndromeEnrichmentCHEK2, KRAS, TGFBR21.24
1048Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C, RAC11.23
1049Amyloidosis, primary localized cutaneous, 1EnrichmentOSMR1.22
1050Palmoplantar keratoderma, punctate type iiEnrichmentBRCA11.22
1051Immune deficiency, familial variableEnrichmentTNFRSF13B1.22
1052Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.22
1053Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.22
1054Cystic angiomatosis of bone, diffuseEnrichmentRASA11.22
1055Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeEnrichmentSOX181.22
105646,xy sex reversal 7EnrichmentDHH1.22
1057Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.22
1058Panhypopituitarism, x-linkedEnrichmentSOX31.22
1059Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA1.22
1060Bone mineral density quantitative trait locus 1EnrichmentLRP51.22
1061Exudative vitreoretinopathy 4EnrichmentLRP51.22
1062Curry-jones syndromeEnrichmentSMO1.22
1063Hypotrichosis-lymphedema-telangiectasia syndromeEnrichmentSOX181.22
1064Deafness, autosomal recessive 26EnrichmentGAB11.22
1065Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL11.22
1066Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A1.22
1067Caspase 8 deficiencyEnrichmentCASP81.22
1068Macular dystrophy, patterned, 2EnrichmentCTNNA11.22
1069Melanoma, cutaneous malignant 3EnrichmentCDK41.22
1070Schilbach-rott syndromeEnrichmentPTCH11.22
1071Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A1.22
1072Acromesomelic dysplasia 3EnrichmentBMPR1B1.22
1073Immunodeficiency 30EnrichmentIL12RB11.22
1074Omodysplasia 2EnrichmentFZD21.22
1075Hajdu-cheney syndromeEnrichmentNOTCH21.22
1076Alagille syndrome 2EnrichmentNOTCH21.22
1077Acne inversa, familial, 1EnrichmentNCSTN1.22
1078Immunodeficiency 16EnrichmentTNFRSF41.22
1079Polydactyly, preaxial iEnrichmentGLI11.22
1080Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.22
1081Lateral meningocele syndromeEnrichmentNOTCH31.22
1082Polycystic lung diseaseEnrichmentCCR21.22
1083Seckel syndrome 1EnrichmentATR1.22
1084Microcephaly 12, primary, autosomal recessiveEnrichmentCDK61.22
1085Mirror movements 2EnrichmentRAD511.22
1086Tooth agenesis, selective, 7EnrichmentLRP61.22
1087Lamb-shaffer syndromeEnrichmentSOX51.22
1088Bleeding disorder, platelet-type, 18EnrichmentRASGRP21.22
1089Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.22
1090Caudal duplication anomalyEnrichmentAXIN11.22
1091Vesicoureteral reflux 3EnrichmentSOX171.22
1092Brachydactyly, type a1, dEnrichmentBMPR1B1.22
1093Whim syndrome 1EnrichmentCXCR41.22
1094Accelerated tumor formationEnrichmentMDM21.22
1095Arrhythmogenic right ventricular dysplasia, familial, 13EnrichmentCTNNA31.22
1096Craniosynostosis and dental anomaliesEnrichmentIL11RA1.22
1097Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.22
1098Exudative vitreoretinopathy 8EnrichmentLRP61.22
1099Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP11.22
1100Intellectual developmental disorder with speech delay and dysmorphic faciesEnrichmentSOX41.22
1101Fanconi anemia, complementation group rEnrichmentRAD511.22
110246,xy sex reversal 10EnrichmentSOX91.22
1103Polydactyly, postaxial, type a8EnrichmentGLI11.22
1104Joubert syndrome 32EnrichmentSUFU1.22
1105Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.22
1106Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB1.22
1107Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.22
1108Cortical dysplasia, complex, with other brain malformations 9EnrichmentCTNNA21.22
1109Lessel-kubisch syndromeEnrichmentMDM21.22
1110Tolchin-le caignec syndromeEnrichmentSOX61.22
111146,xx sex reversal 2EnrichmentSOX91.22
1112Okt4 epitope deficiencyEnrichmentCD41.22
1113Intellectual developmental disorder, x-linked, with panhypopituitarismEnrichmentSOX31.22
1114Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.22
1115Infant-type hemispheric gliomaEnrichmentBRCA11.22
1116Cardiomyopathy, dilated, 1vEnrichmentPSEN21.22
1117Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.22
1118Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.22
1119Coronary artery disease, autosomal dominant 2EnrichmentLRP61.22
1120Bone mineral density quantitative trait locus 16EnrichmentWNT11.22
1121Immunoglobulin a deficiency 2EnrichmentTNFRSF13B1.22
1122Tumor predisposition syndrome 4EnrichmentCHEK21.22
1123Psoriasis 7EnrichmentIL23R1.22
1124Thrombocytopenia 4EnrichmentCYCS1.22
1125Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.22
1126Acrocapitofemoral dysplasiaEnrichmentIHH1.22
1127Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.22
1128Immunodeficiency with hyper-igm, type 3EnrichmentCD401.22
1129Neuroendocrine tumorEnrichmentCDKN1B1.22
1130Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.22
1131Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.22
1132Cardiomyopathy, dilated, 1uEnrichmentPSEN11.22
1133Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR1.22
1134Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.22
1135Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB1.22
1136Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC1.22
1137Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.22
1138Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD1.22
1139Pulmonary hypertension, primary, 2EnrichmentSMAD91.22
1140Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.22
1141Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.22
1142Microphthalmia, syndromic 12EnrichmentRARB1.22
1143Myofibromatosis, infantile, 2EnrichmentNOTCH31.22
1144Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.22
1145Candidiasis, familial, 9EnrichmentIL17RC1.22
1146Loeys-dietz syndrome 6EnrichmentSMAD21.22
1147Inflammatory bowel disease 17EnrichmentIL23R1.22
1148Microphthalmia/coloboma 11EnrichmentFZD51.22
1149Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.22
1150Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN1.22
1151Endometrial serous adenocarcinomaEnrichmentATM1.22
1152Type 1 diabetes mellitus 22EnrichmentCCR51.22
1153Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.22
1154Acne inversa, familial, 3EnrichmentPSEN11.22
1155Macular degeneration, age-related, 12EnrichmentCX3CR11.22
1156Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.22
1157Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadismEnrichmentSOX111.22
1158PsoriasisEnrichmentIL17RA1.22
1159Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.22
1160Menke-hennekam syndrome 1EnrichmentCREBBP1.22
1161LeiomyosarcomaEnrichmentCHEK21.22
1162Immunodeficiency 79EnrichmentCD41.22
1163Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.22
1164Ciliary dyskinesia, primary, 46EnrichmentSTK361.22
1165TelangiectasisEnrichmentACVRL11.22
1166Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.22
1167Whim syndrome 2EnrichmentCXCR21.22
1168Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.22
1169Trilateral retinoblastomaEnrichmentRB11.22
1170Plexiform neurofibromaEnrichmentNF11.22
1171Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.22
1172Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.22
1173T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.22
1174NeurofibromaEnrichmentNF11.22
1175Cdkn2a cancer predispositionEnrichmentCDKN2A1.22
1176Heritable thoracic aortic diseaseEnrichmentSMAD41.22
1177Immunodeficiency 109 with lymphoproliferationEnrichmentTNFRSF91.22
1178Congenital myopathy 26EnrichmentTUBA4A1.22
1179Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.22
1180Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.22
1181Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.22
1182Lrp5-related primary osteoporosisEnrichmentLRP51.22
1183Pulmonary hypertension, primary, 7EnrichmentSOX171.22
1184NeurofibromatosisEnrichmentNF11.22
1185Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK11.22
1186Transient cerebral ischemiaEnrichmentNOTCH31.22
1187Chromosome 17q11.2 deletion syndromeEnrichmentNF11.22
1188Primary pulmonary hypertensionEnrichmentBMPR21.22
1189B-cell non-hodgkin lymphomaEnrichmentATM1.22
1190Optic nerve gliomaEnrichmentNF11.22
1191Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.22
1192Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH31.22
1193Pulmonary hypertensionEnrichmentBMPR21.22
1194Turner syndromeEnrichmentPTCH11.22
1195Familial adenomatous polyposisEnrichmentAPC1.22
1196Immunodeficiency 64EnrichmentRASGRP11.22
1197Gorham's diseaseEnrichmentRASA11.22
1198Chronic neutrophilic leukemiaEnrichmentCSF3R1.22
1199Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP11.22
1200Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR21.22
1201Common variable immunodeficiency phenotype due to homozygous taci deficiencyEnrichmentTNFRSF13B1.22
1202Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR21.22
1203Menke-hennekam syndromeEnrichmentCREBBP1.22
1204Monosomy 9q22.3EnrichmentPTCH11.22
1205Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR1.22
1206Gardner syndromeEnrichmentAPC1.22
1207Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.22
1208T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R1.22
12095q22 microdeletion syndromeEnrichmentAPC1.22
1210Pash syndromeEnrichmentNCSTN1.22
1211Attenuated familial adenomatous polyposisEnrichmentAPC1.22
1212Huntington's disease-likeEnrichmentPSEN21.22
1213Intestinal polyposis syndromeEnrichmentSTK111.22
1214Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.22
1215Primary peritoneal carcinomaEnrichmentBRCA11.22
1216Polyvalvular heart disease syndromeEnrichmentTAB21.22
1217Retinal hemangioblastomaEnrichmentVHL1.22
1218Lung oat cell carcinomaEnrichmentRB11.22
1219Myelodysplastic syndromeEnrichmentGNB1, TP531.22
1220Specific learning disabilityEnrichmentMAPK1, RPS6KA31.22
1221Esophageal cancerEnrichmentTGFBR2, TP531.21
1222MyelofibrosisEnrichmentJAK2, SRC1.21
1223Adams-oliver syndromeEnrichmentNOTCH1, RBPJ1.21
1224Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN21.21
1225Primary ovarian insufficiencyEnrichmentBMP6, CHEK2, JAK2, KDR, NBN, NOTCH2, NTRK11.21
1226Hydrops fetalis, nonimmuneEnrichmentACTA1, EPHB4, FLT41.20
1227Cardiac conduction defectEnrichmentDSP, FLNC1.18
1228Restrictive cardiomyopathyEnrichmentFLNC, MYH71.18
1229Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentDSP, TGFB31.18
1230Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentDSP, TGFB31.18
1231Postsynaptic congenital myasthenic syndromesEnrichmentCOL13A1, MUSK1.18
1232Eye diseaseEnrichmentCACNA1F, CACNA2D4, GNAT2, IMPG21.16
1233Cri-du-chat syndromeEnrichmentSEMA5A1.16
1234Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A11.16
1235Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A11.16
1236Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentHNF1B1.16
1237Amelogenesis imperfecta, type ibEnrichmentCOL17A11.16
1238Aortic aneurysm, familial thoracic 4EnrichmentMYH111.16
1239Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.16
1240Leukocyte adhesion deficiency, type iEnrichmentITGB21.16
1241Burkitt lymphomaEnrichmentMYC1.16
1242Cutis laxa, autosomal dominant 1EnrichmentELN1.16
1243Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A11.16
1244Blue rubber bleb nevusEnrichmentTEK1.16
1245Renal cysts and diabetes syndromeEnrichmentHNF1B1.16
1246Sveinsson chorioretinal atrophyEnrichmentTEAD11.16
1247Congenital anomalies of kidney and urinary tract 2EnrichmentHNF1B1.16
1248Sorsby fundus dystrophyEnrichmentTIMP31.16
1249Mitral valve prolapse 1EnrichmentDCHS11.16
1250Wagner vitreoretinopathyEnrichmentVCAN1.16
1251Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.16
1252Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.16
1253Metaphyseal chondrodysplasia, schmid typeEnrichmentCOL10A11.16
1254Camurati-engelmann disease 1EnrichmentTGFB11.16
1255Arthrogryposis, distal, type 2aEnrichmentMYH31.16
1256Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.16
1257Manitoba oculotrichoanal syndromeEnrichmentFREM11.16
1258TrichomegalyEnrichmentFGF51.16
1259Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA31.16
1260Bruck syndrome 1EnrichmentCOL1A21.16
1261Stiff skin syndromeEnrichmentFBN11.16
1262Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentPRG41.16
1263Kyphomelic dysplasiaEnrichmentCCN21.16
1264Ebstein anomalyEnrichmentMYH71.16
1265Omodysplasia 1EnrichmentGPC61.16
1266Myasthenic syndrome, congenital, 5EnrichmentLAMB21.16
1267Otopalatodigital syndrome, type iiEnrichmentFLNA1.16
1268Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.16
1269Van maldergem syndrome 1EnrichmentDCHS11.16
1270Melnick-needles syndromeEnrichmentFLNA1.16
1271Pulmonary hypoplasia, primaryEnrichmentFGF101.16
1272Arrhythmogenic right ventricular dysplasia, familial, 8EnrichmentDSP1.16
1273Cataract 35EnrichmentMYH91.16
1274Hypotrichosis, congenital, with juvenile macular dystrophyEnrichmentCDH31.16
1275Frontometaphyseal dysplasia 1EnrichmentFLNA1.16
1276Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.16
1277Deafness, autosomal dominant 30EnrichmentMYO3A1.16
1278Bifid nose with or without anorectal and renal anomaliesEnrichmentFREM11.16
1279Histiocytoma, angiomatoid fibrousEnrichmentCREB11.16
1280Parkinson disease 8, autosomal dominantEnrichmentGDF61.16
1281Aortic aneurysm, familial thoracic 2EnrichmentACTA21.16
1282Doyne honeycomb retinal dystrophyEnrichmentEFEMP11.16
1283Griscelli syndrome, type 3EnrichmentMYO5A1.16
1284Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.16
1285Aural atresia, congenitalEnrichmentFGFR21.16
1286Legg-calve-perthes diseaseEnrichmentCOL2A11.16
1287Arthrogryposis, distal, type 7EnrichmentMYH81.16
1288Deafness, autosomal dominant 20EnrichmentACTG11.16
1289Keratosis, seborrheicEnrichmentFGFR31.16
1290Multiple synostoses syndrome 2EnrichmentGDF51.16
1291Smooth muscle dysfunction syndromeEnrichmentACTA21.16
1292Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.16
1293Lissencephaly 1EnrichmentLAMB11.16
1294Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.16
1295Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.16
1296Aortic aneurysm, familial thoracic 6EnrichmentACTA21.16
1297Epithelial recurrent erosion dystrophyEnrichmentCOL17A11.16
1298Baraitser-winter syndrome 2EnrichmentACTG11.16
1299Specific language impairment 5EnrichmentCOL4A41.16
1300Silver-russell syndrome 3EnrichmentIGF21.16
1301Osteogenesis imperfecta, type xiiiEnrichmentBMP11.16
1302Beaulieu-boycott-innes syndromeEnrichmentFBN11.16
1303Moyamoya disease 5EnrichmentACTA21.16
1304Deafness, autosomal recessive 84aEnrichmentCDH231.16
1305Pierson syndromeEnrichmentLAMB21.16
1306Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.16
1307Schwartz-jampel syndrome, type 1EnrichmentHSPG21.16
1308Keratosis palmoplantaris striata iiEnrichmentDSP1.16
1309Brachydactyly, type a1, cEnrichmentGDF51.16
1310Symphalangism, proximal, 1bEnrichmentGDF51.16
1311Houge-janssens syndrome 1EnrichmentPPP2R5D1.16
1312Supravalvular aortic stenosisEnrichmentELN1.16
1313Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.16
1314Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.16
1315Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.16
1316Arthrogryposis, distal, type 2b3EnrichmentMYH31.16
1317Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.16
1318Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A21.16
1319Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisEnrichmentDSP1.16
1320Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A11.16
1321Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC21.16
1322Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC21.16
1323Epidermolysis bullosa, junctional 4, intermediateEnrichmentCOL17A11.16
1324Waardenburg syndrome, type 2fEnrichmentKITLG1.16
1325Stickler syndrome, type viEnrichmentCOL9A31.16
1326Fibromuscular dysplasia, multifocalEnrichmentCOL5A11.16
1327Lymphatic malformation 11EnrichmentTIE11.16
1328Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA31.16
1329Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.16
1330Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.16
1331Cebalid syndromeEnrichmentMTOR1.16
1332Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A11.16
1333Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.16
1334Kowarski syndromeEnrichmentGH11.16
1335Atrial septal defect 3EnrichmentMYH61.16
1336Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB21.16
1337Hyperuricemic nephropathy, familial juvenile, 3EnrichmentHNF1B1.16
1338Immunodeficiency 127EnrichmentTNF1.16
1339Combined saposin deficiencyEnrichmentCDH231.16
1340Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A11.16
1341Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN11.16
1342Senior-loken syndrome 7EnrichmentAKT31.16
1343Progressive familial heart blockEnrichmentDSP1.16
1344Rosette-forming glioneuronal tumorEnrichmentFGFR11.16
1345Cataract 30EnrichmentVIM1.16
1346Cardiovascular system diseaseEnrichmentFLNC1.16
1347Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL21.16
1348Optic disk drusenEnrichmentEFEMP11.16
1349Papillary renal cell carcinomaEnrichmentMET1.16
1350Congenital mesoblastic nephromaEnrichmentNTRK31.16
1351Camurati-engelmann diseaseEnrichmentTGFB11.16
1352GlomerulonephritisEnrichmentCOL4A41.16
1353Cardiomyopathy, dilated, with woolly hair and keratodermaEnrichmentDSP1.16
1354Microphthalmia/coloboma 6EnrichmentGDF61.16
1355Glaucoma, primary closed-angleEnrichmentCOL18A11.16
1356Trigonocephaly 2EnrichmentFREM11.16
1357Steel syndromeEnrichmentCOL27A11.16
1358Familial avascular necrosis of the femoral headEnrichmentCOL2A11.16
1359Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH21.16
1360Pseudosarcomatous fibromatosisEnrichmentMYH91.16
1361Immune system diseaseEnrichmentCDC421.16
1362FibrosarcomaEnrichmentNTRK31.16
1363Visceral myopathy 2EnrichmentMYH111.16
1364Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL21.16
1365Bardet-biedl syndrome 16EnrichmentAKT31.16
1366Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA31.16
1367Cataract 16, multiple typesEnrichmentCOL12A11.16
1368Retinitis pigmentosa 38EnrichmentMERTK1.16
1369Proximal symphalangismEnrichmentGDF51.16
1370Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphismEnrichmentMYO18B1.16
1371Smith-kingsmore syndromeEnrichmentMTOR1.16
1372Craniosynostosis 7EnrichmentBMP21.16
1373Combined psap deficiencyEnrichmentCDH231.16
1374Acute myeloid leukemia without maturationEnrichmentFLT31.16
1375Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.16
1376Mitochondrial dna depletion syndrome 15EnrichmentTFAM1.16
1377Arthrogryposis, distal, type 1cEnrichmentMYL111.16
1378Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.16
1379Houge-janssens syndrome 3EnrichmentPPP2CA1.16
1380Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.16
1381Intermittent hydrarthrosisEnrichmentTNFRSF1A1.16
1382Klippel-feil anomaly-myopathy-facial dysmorphism syndromeEnrichmentMYO18B1.16
1383Short stature due to growth hormone qualitative anomalyEnrichmentGH11.16
1384Wagner diseaseEnrichmentVCAN1.16
1385B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.16
1386Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.16
1387Chronic eosinophilic leukemiaEnrichmentPDGFRA1.16
1388Vacterl with hydrocephalusEnrichmentPTEN1.16
1389Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.16
1390HyperinsulinismEnrichmentHNF4A1.16
1391Dentinogenesis imperfectaEnrichmentCOL1A21.16
1392Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH21.16
1393Epidermolysis bullosa dystrophicaEnrichmentCOL7A11.16
1394TeratomaEnrichmentCTNNB11.16
1395B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.16
1396Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.16
1397B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.16
1398B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.16
1399Common variable immunodeficiency 12EnrichmentNFKB11.16
1400Lens subluxationEnrichmentFBN11.16
1401Familial isolated pituitary adenomaEnrichmentCDH231.16
1402Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.16
1403Intestinal obstructionEnrichmentACTG21.16
1404Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.16
1405Carney complex - trismus - pseudocamptodactyly syndromeEnrichmentMYH81.16
1406Fibromatosis, gingival, 1EnrichmentSOS11.14
1407Pseudohypoparathyroidism, type iaEnrichmentGNAS1.14
1408Scoliosis, isolated 1EnrichmentMAPK71.14
1409Adrenocortical carcinoma, hereditaryEnrichmentTP531.14
1410Costello syndromeEnrichmentHRAS1.14
1411Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.14
1412Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.14
1413Hemangiopericytoma, malignantEnrichmentSTAT61.14
1414Cutis marmorata telangiectatica congenitaEnrichmentGNA111.14
1415Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.14
1416Immunodeficiency 33EnrichmentIRAK41.14
1417Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.14
1418PseudopseudohypoparathyroidismEnrichmentGNAS1.14
1419Lethal congenital contracture syndrome 8EnrichmentADCY61.14
1420Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.14
1421Night blindness, congenital stationary, type 1hEnrichmentGNB31.14
1422Spermatogenic failure 17EnrichmentPLCZ11.14
1423Lymphoma, hodgkin, classicEnrichmentTP531.14
1424Immunodeficiency 31cEnrichmentSTAT11.14
1425Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.14
1426Neurodevelopmental disorder with or without variable brain abnormalitiesEnrichmentMAPK8IP31.14
1427Noonan syndrome 12EnrichmentRRAS21.14
1428Usher syndrome, type ivEnrichmentPRKAR1A1.14
1429Intravascular large b-cell lymphomaEnrichmentBCL21.14
1430Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.14
1431Autosomal dominant hypocalcemiaEnrichmentGNA111.14
1432AcrodysostosisEnrichmentPRKAR1A1.14
1433PseudohypoparathyroidismEnrichmentGNAS1.14
1434Body mass index quantitative trait locus 19EnrichmentADCY31.14
1435Congenital dyserythropoietic anemiaEnrichmentIRAK41.14
1436Fibrolamellar carcinomaEnrichmentPRKACA1.14
1437Ocular melanomaEnrichmentPLCB41.14
1438Hodgkin's lymphomaEnrichmentTP531.14
1439Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.14
1440HypopituitarismEnrichmentGNAI21.14
1441Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.14
1442Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.14
1443Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.14
1444Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.14
1445Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK41.14
1446Tafro syndromeEnrichmentMAP2K21.14
1447Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.14
1448Cerebral visual impairmentEnrichmentGNB11.14
1449Phakomatosis cesioflammeaEnrichmentGNA111.14
1450Wooly hair nevusEnrichmentHRAS1.14
1451Chronic kidney diseaseEnrichmentCOL4A4, COL4A51.12
1452Amyotrophy, hereditary neuralgicEnrichmentSEPTIN91.10
1453Alexander diseaseEnrichmentGFAP1.10
1454Wiskott-aldrich syndromeEnrichmentWIPF11.10
1455Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.10
1456Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.10
1457Neutrophilia, hereditaryEnrichmentPIP4K2B1.10
1458Cardiomyopathy, dilated, 1iEnrichmentDES1.10
1459Osteopetrosis, autosomal recessive 2EnrichmentTNFSF111.10
1460Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.10
1461Spastic paraplegia, intellectual disability, nystagmus, and obesityEnrichmentGFAP1.10
1462Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.10
1463Agammaglobulinemia, x-linkedEnrichmentBTK1.10
1464Severe congenital neutropenia 7EnrichmentPIP4K2B1.10
1465Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.10
1466B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.10
1467Lymphatic malformation 10EnrichmentANGPT21.10
1468Chromosome 1p36 deletion syndromeEnrichmentHSPG2, PRKCZ1.09
1469Keratitis, hereditaryEnrichmentPAX61.06
1470Foveal hypoplasia 1EnrichmentPAX61.06
1471Timothy syndromeEnrichmentCACNA1C1.06
1472Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.06
1473Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.06
1474Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.06
1475Optic nerve hypoplasia, bilateralEnrichmentPAX61.06
1476Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN11.06
1477Long qt syndrome 8EnrichmentCACNA1C1.06
1478Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.06
1479Immunodeficiency 17EnrichmentCD3G1.06
1480Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.06
1481Immunodeficiency 52EnrichmentLAT1.06
1482Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.06
1483Progressive bulbar palsyEnrichmentCACNA1A1.06
1484Hereditary retinal dystrophyEnrichmentATF6, CDH23, CDH3, COL11A2, COL18A1, COL2A1, COL9A1, EFEMP1, IMPG1, IMPG2, LAMA1, MERTK, MYO7A, TIMP3, VCAN1.03
1485Fundus dystrophyEnrichmentATF6, CDH23, CDH3, COL11A2, COL18A1, COL2A1, COL9A1, EFEMP1, IMPG1, IMPG2, LAMA1, MERTK, MYO7A, TIMP3, VCAN1.03
1486Severe covid-19EnrichmentCASP10, IL10RB, ITGAV, JAK31.03
1487Neural tube defectsEnrichmentITGB1, PARD31.03
1488Corpus callosum, agenesis ofEnrichmentCDH2, COL4A11.01
1489Usher syndrome, type iEnrichmentCDH23, MYO7A1.01
1490Isolated corpus callosum agenesisEnrichmentCDH2, COL4A11.01
1491Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, COL4A11.01
1492Charge syndromeEnrichmentEP300, TNFRSF1A1.01
1493Leukemia, acute lymphoblastic 3EnrichmentJAK2, NF11.01
1494Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R, FLT31.01
1495Hypogonadotropic hypogonadismEnrichmentFGFR1, SOX111.01
1496Primary biliary cholangitisEnrichmentIL12A, IL12RB11.01
1497Prune belly syndromeEnrichmentFLNA0.99
1498Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH90.99
1499Retinal arteries, tortuosity ofEnrichmentCOL4A10.99
1500Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR10.99
1501Palmoplantar keratoderma, punctate type iaEnrichmentCOL14A10.99
1502Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A10.99
1503Exfoliation syndromeEnrichmentLTBP20.99
1504Arterial tortuosity syndromeEnrichmentFLNA0.99
1505Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF230.99
1506Thrombocythemia 1EnrichmentTHPO0.99
1507Hypophosphatemic rickets, autosomal dominantEnrichmentFGF230.99
1508MegalocorneaEnrichmentCOL11A10.99
1509Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG20.99
1510Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A10.99
1511Hypophosphatasia, infantileEnrichmentCOL11A20.99
1512Periventricular nodular heterotopia 1EnrichmentFLNA0.99
1513Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R0.99
1514Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentHNF1B0.99
1515Deafness, autosomal recessive 3EnrichmentMYO15A0.99
1516Stuve-wiedemann syndrome 1EnrichmentLIFR0.99
1517Myopathy, myofibrillar, 5EnrichmentFLNC0.99
1518Cardiomyopathy, dilated, 1c, with or without left ventricular noncompactionEnrichmentMYH7B0.99
1519Glomerulopathy with fibronectin deposits 2EnrichmentFN10.99
1520Muscular dystrophy, duchenne typeEnrichmentLTBP40.99
1521Transposition of the great arteries, dextro-loopedEnrichmentBMP20.99
1522Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB10.99
1523Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB10.99
1524Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA20.99
1525Epidermolysis bullosa, lethal acantholyticEnrichmentDSP0.99
1526Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB10.99
1527Congenital short bowel syndromeEnrichmentFLNA0.99
1528Caffey diseaseEnrichmentCOL1A10.99
1529Brain small vessel disease 2EnrichmentCOL4A20.99
1530Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR10.99
1531Ullrich congenital muscular dystrophy 2EnrichmentCOL12A10.99
1532Bethlem myopathy 2EnrichmentCOL12A10.99
1533Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO0.99
1534Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR0.99
1535Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R10.99
1536Chromosome 17q12 deletion syndromeEnrichmentHNF1B0.99
1537Myopathy, distal, 4EnrichmentFLNC0.99
1538Anus, imperforateEnrichmentCTNNB10.99
1539Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A10.99
1540Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-igeEnrichmentDSP0.99
1541Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentMYH150.99
1542Exudative vitreoretinopathy 7EnrichmentCTNNB10.99
1543Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A0.99
1544Pilarowski-bjornsson syndromeEnrichmentCOL4A30.99
1545Woolly hair-skin fragility syndromeEnrichmentDSP0.99
1546Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A30.99
1547Bronchopulmonary dysplasiaEnrichmentMUSK0.99
1548Cutis laxa, autosomal recessive, type ibEnrichmentEFEMP20.99
1549Poretti-boltshauser syndromeEnrichmentLAMA10.99
1550Keratosis palmoplantaris striataEnrichmentDSP0.99
1551Isolated ectopia lentisEnrichmentFBN10.99
1552Intrinsic cardiomyopathyEnrichmentACTN20.99
1553Autosomal dominant cutis laxaEnrichmentELN0.99
1554Isolated growth hormone deficiency, type ibEnrichmentGH10.99
1555Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A10.99
1556Lymphatic malformation 7EnrichmentEPHB40.99
1557Frontometaphyseal dysplasiaEnrichmentFLNA0.99
1558Immunodeficiency 14EnrichmentPIK3R10.99
1559Capillary malformation-arteriovenous malformation 2EnrichmentEPHB40.99
1560Intraocular pressure quantitative trait locusEnrichmentZEB10.99
1561Hematuria, benign familial, 2EnrichmentCOL4A30.99
1562Cryptogenic cirrhosisEnrichmentKRT180.99
1563Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R0.99
1564Qualitative or quantitative defects of beta-myosin heavy chainEnrichmentMYH70.99
1565Idiopathic camptocormiaEnrichmentMYH70.99
1566Bleeding disorder, platelet-type, 24EnrichmentITGB30.99
1567Congenital diarrheaEnrichmentMYO1A0.99
1568Tricuspid valve insufficiencyEnrichmentMYH110.99
1569Mixed phenotype acute leukemia with tEnrichmentFLT30.99
1570Alopecia - intellectual disability syndromeEnrichmentITGB60.99
1571Renal cell carcinomaEnrichmentMET0.99
1572EnchondromatosisEnrichmentHIF1A0.99
1573Multiple epiphyseal dysplasiaEnrichmentCOL2A10.99
1574Stüve-wiedemann syndromeEnrichmentLIFR0.99
1575Isolated klippel-feil syndromeEnrichmentGDF60.99
1576Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF20.99
1577Familial drusenEnrichmentEFEMP10.99
1578Hyperpigmentation of the skinEnrichmentCOL7A10.99
1579Lama2-related muscular dystrophyEnrichmentLAMA20.99
1580Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, FGF12, NTRK20.98
1581Nuchal bleb, familialEnrichmentSOS10.97
1582Nephrotic syndrome, type 3EnrichmentPLCE10.97
1583Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA70.97
1584Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA60.97
1585Hyper ige syndromeEnrichmentSTAT30.97
1586Atypical teratoid rhabdoid tumorEnrichmentTP530.97
1587Anaplastic astrocytomaEnrichmentTP530.97
1588Myxoid liposarcomaEnrichmentDDIT30.97
1589Immunodeficiency 44EnrichmentSTAT20.97
1590Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS0.97
1591Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY60.97
1592Autism spectrum disorderEnrichmentGNB1, MAP2K1, MEF2C, SMC3, TCF12, TCF20, TCF40.95
1593Macs syndromeEnrichmentGDF6, PTCH1, SOX20.94
1594Takayasu arteritisEnrichmentIL12B0.94
1595Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG0.94
1596Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF20.94
1597Myopathy, myofibrillar, 1EnrichmentDES0.94
1598Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK0.94
1599Aortic aneurysm, familial thoracic 7EnrichmentMYLK0.94
1600Agammaglobulinemia 1EnrichmentBTK0.94
1601Microcephaly 17, primary, autosomal recessiveEnrichmentCIT0.94
1602Immunodeficiency, common variable, 11EnrichmentIL210.94
1603Cafe-au-lait spots, multipleEnrichmentNF10.93
1604Melanoma-astrocytoma syndromeEnrichmentCDKN2A0.93
1605Peutz-jeghers syndromeEnrichmentSTK110.93
1606Familial expansile osteolysisEnrichmentTNFRSF11A0.93
1607Myhre syndromeEnrichmentSMAD40.93
1608Campomelic dysplasiaEnrichmentSOX90.93
1609Van buchem diseaseEnrichmentLRP50.93
1610Pallister-hall-like syndromeEnrichmentSMO0.93
1611Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A0.93
1612Immunodeficiency, common variable, 2EnrichmentTNFRSF13B0.93
1613Thumb deformityEnrichmentCREBBP0.93
1614Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR20.93
1615Ovarian germ cell cancerEnrichmentCBL0.93
1616Alzheimer disease 3EnrichmentPSEN10.93
1617West nile virusEnrichmentCCR50.93
1618Hypertrichosis, congenital generalized, 2EnrichmentSOX30.93
161946,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH0.93
1620Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA0.93
1621Waardenburg syndrome, type 4cEnrichmentSOX100.93
1622Pick disease of brainEnrichmentPSEN10.93
1623Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD40.93
1624Immunodeficiency with hyper-igm, type 2EnrichmentTNFRSF13B0.93
1625Microvascular complications of diabetes 5EnrichmentTGFBR20.93
1626Intellectual developmental disorder, autosomal recessive 5EnrichmentSYNGAP10.93
1627Osteogenesis imperfecta, type xvEnrichmentWNT10.93
1628Melanoma, cutaneous malignant 2EnrichmentCDKN2A0.93
1629Adams-oliver syndrome 5EnrichmentNOTCH10.93
1630Robinow syndrome, autosomal dominant 3EnrichmentFZD20.93
1631Chromosome 13q14 deletion syndromeEnrichmentRB10.93
1632Thrombocythemia 3EnrichmentJAK20.93
1633Immunodeficiency 51EnrichmentIL17RA0.93
1634Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B0.93
1635Multiple endocrine neoplasia, type ivEnrichmentCDKN1B0.93
1636Deafness, autosomal dominant 64EnrichmentDIABLO0.93
1637Loeys-dietz syndrome 3EnrichmentSMAD30.93
1638Adams-oliver syndrome 3EnrichmentRBPJ0.93
1639Congenital heart defects, multiple types, 3EnrichmentCHEK20.93
1640Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG10.93
1641Blepharocheilodontic syndrome 2EnrichmentCTNND10.93
1642Congenital heart defects and skeletal malformations syndromeEnrichmentABL10.93
1643Fanconi anemia, complementation group sEnrichmentBRCA10.93
1644Menke-hennekam syndrome 2EnrichmentEP3000.93
1645Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF10.93
1646Pulmonary venoocclusive disease 1EnrichmentBMPR20.93
1647Pancreatic cancer 4EnrichmentBRCA10.93
1648Primary cutaneous amyloidosisEnrichmentOSMR0.93
1649Immunodeficiency, common variable, 4EnrichmentTNFRSF13C0.93
1650Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP0.93
1651Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A0.93
1652Lipodystrophy, familial partial, type 1EnrichmentNOTCH30.93
1653Depressive disorderEnrichmentNOTCH30.93
1654High grade gliomaEnrichmentATM0.93
1655Inflammatory bowel disease 28EnrichmentIL10RA0.93
1656Immunodeficiency 104, severe combinedEnrichmentIL7R0.93
1657Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentSOX100.93
1658Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM170.93
1659Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK10.93
1660Multiple sclerosis 3EnrichmentIL7R0.93
1661Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB30.93
1662Congenital heart defects, multiple types, 2EnrichmentTAB20.93
1663Bardet-biedl syndrome 9EnrichmentNF10.93
1664Periampullary adenomaEnrichmentAPC0.93
1665Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC0.93
1666T-cell prolymphocytic leukemiaEnrichmentATM0.93
1667Inflammatory breast carcinomaEnrichmentBRCA10.93
1668PolycythemiaEnrichmentJAK20.93
1669Hereditary mixed polyposis syndromeEnrichmentBMPR1A0.93
1670Peritoneum cancerEnrichmentBRCA10.93
1671Basal cell nevus syndrome 2EnrichmentSUFU0.93
1672Bilateral breast cancerEnrichmentBRCA10.93
1673Postaxial polydactyly type bEnrichmentGLI10.93
1674Hypereosinophilic syndromeEnrichmentJAK20.93
1675Acute leukemia of ambiguous lineageEnrichmentVHL0.93
1676Malignant germ cell tumor of ovaryEnrichmentCBL0.93
1677Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB20.93
1678Pulmonary venoocclusive diseaseEnrichmentBMPR20.93
1679OsteosclerosisEnrichmentLRP50.93
1680Familial retinoblastomaEnrichmentRB10.93
1681Commissural facial cleftEnrichmentPTCH20.93
1682Oculootodental syndromeEnrichmentFADD0.93
1683Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR20.93
1684Campomelic dysplasia and related disordersEnrichmentSOX90.93
1685Lynch syndrome 1EnrichmentATM, CHEK20.93
1686Omenn syndromeEnrichmentIL2RG, IL7R0.93
1687Cleft palate, isolatedEnrichmentCOL11A1, FLNA0.92
1688Cardiomyopathy, dilated, 1eEnrichmentMYH7, MYL20.92
1689Jacobsen syndromeEnrichmentETS10.89
1690Type 1 diabetes mellitus 2EnrichmentCAPN100.89
1691Van der woude syndrome 1EnrichmentCACNA1E0.89
1692Gillespie syndromeEnrichmentPAX60.89
1693Estrogen resistanceEnrichmentESR10.89
1694Muscular dystrophy, limb-girdle, autosomal dominant 4EnrichmentCAPN30.89
1695Autosomal recessive limb-girdle muscular dystrophy type 2aEnrichmentCAPN30.89
1696Neurodegeneration, childhood-onset, with brain atrophyEnrichmentUBTF0.89
1697Thyrotoxic periodic paralysisEnrichmentCACNA1S0.89
1698Hereditary episodic ataxiaEnrichmentCACNA1A0.89
1699Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX, NF1, VHL0.89
1700Dandy-walker syndromeEnrichmentBRAF, PDGFRB0.89
1701Neuromuscular diseaseEnrichmentACTA1, MYH70.88
1702Kaposi sarcomaEnrichmentIL60.87
1703Myopathy, distal, 1EnrichmentMYH70.87
1704Retinitis pigmentosa 91EnrichmentIMPG10.87
1705Amelogenesis imperfecta, type iiiaEnrichmentITGB60.87
1706Isolated growth hormone deficiency, type iiEnrichmentGH10.87
1707Klippel-feil syndrome 2, autosomal recessiveEnrichmentMYO18B0.87
1708Nemaline myopathy 2EnrichmentACTA10.87
1709PhenylketonuriaEnrichmentCOL1A10.87
1710Congenital myopathy 7b, myosin storage, autosomal recessiveEnrichmentMYH70.87
1711SchizencephalyEnrichmentCOL4A10.87
1712Microtia-anotiaEnrichmentBMP50.87
1713Pitt-hopkins syndromeEnrichmentTCF40.87
1714Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK10.87
1715Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB40.87
1716PilomatrixomaEnrichmentCTNNB10.87
1717Carney complex variantEnrichmentMYH80.87
1718Congenital myopathy 7a, myosin storage, autosomal dominantEnrichmentMYH70.87
1719Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH20.87
1720Barrett esophagusEnrichmentERBB20.87
1721Aminoacylase 1 deficiencyEnrichmentACTB0.87
1722Pituitary adenoma 5, multiple typesEnrichmentCDH230.87
1723Cardiomyopathy, familial hypertrophic, 26EnrichmentFLNC0.87
1724Arthrogryposis multiplex congenita 2, neurogenic typeEnrichmentCOL25A10.87
1725Alazami syndromeEnrichmentCTNNB10.87
1726Congenital generalized lipodystrophyEnrichmentFOS0.87
1727Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentMYH30.87
1728Hyaline body myopathyEnrichmentMYH70.87
1729Chronic myelomonocytic leukemiaEnrichmentFLT30.87
1730ProlactinomaEnrichmentCDH230.87
1731Epidermolytic hyperkeratosisEnrichmentCOL7A10.87
1732Cerebral malariaEnrichmentTNF0.87
1733Vacterl associationEnrichmentCDH130.87
1734Silver-russell syndrome due to a point mutationEnrichmentIGF20.87
1735Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT0.87
1736Intermediate nemaline myopathyEnrichmentACTA10.87
1737Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.87
1738Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A60.87
1739Clear cell papillary renal cell carcinomaEnrichmentHNF1A0.87
1740Familial sick sinus syndromeEnrichmentMYH60.87
1741Immune deficiency diseaseEnrichmentATM, CD270.86
1742Frontotemporal dementia 1EnrichmentCSF1R, PSEN10.86
1743Combined immunodeficiencyEnrichmentCD27, IL2RG0.86
174446,xy complete gonadal dysgenesisEnrichmentDHH, SOX90.86
1745IchthyosisEnrichmentCOL7A1, IL2RB0.86
1746Combined t cell and b cell immunodeficiencyEnrichmentCD27, IL2RG0.86
1747Combined t and b cell immunodeficiencyEnrichmentCD27, IL2RG0.86
1748Chorea, benign hereditaryEnrichmentADCY50.85
1749Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentWNK10.85
1750Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.85
1751Pseudohypoparathyroidism, type ibEnrichmentGNAS0.85
1752Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.85
1753Retinitis pigmentosa 26EnrichmentITGA40.85
1754Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A0.85
1755Developmental and epileptic encephalopathy 12EnrichmentPLCB10.85
1756Hereditary sensory and autonomic neuropathy type 2EnrichmentWNK10.85
1757Hereditary ataxiaEnrichmentPRKCG0.85
1758Newborn respiratory distress syndromeEnrichmentBRAF0.85
1759Epidermolytic nevusEnrichmentHRAS0.85
1760Gingival fibromatosisEnrichmentSOS10.85
1761MicrophthalmiaEnrichmentPTCH1, RARB, SOX20.85
1762Tooth agenesisEnrichmentFGFR1, LRP6, TGFA0.85
1763Anterior segment dysgenesisEnrichmentCOL4A1, PAX60.84
1764Congenital myopathyEnrichmentACTA1, MYH70.84
1765Autosomal recessive osteopetrosisEnrichmentTNFSF110.82
1766Inherited epidermodysplasia verruciformisEnrichmentIL70.82
1767Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentANGPT10.82
1768Fanconi anemia, complementation group aEnrichmentBRCA1, FANCD2, RAD51, VHL0.81
1769Creatine phosphokinase, elevated serumEnrichmentCAPN3, LAMA20.80
1770Isolated elevated serum creatine phosphokinase levelsEnrichmentCAPN3, LAMA20.80
1771EpicanthusEnrichmentACVR1, TCF40.80
1772Cataract 6, multiple typesEnrichmentEPHA20.78
1773Enchondromatosis, multiple, ollier typeEnrichmentHIF1A0.78
1774Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN10.78
1775Epidermolytic hyperkeratosis 1EnrichmentCOL7A10.78
1776Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB30.78
1777Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB40.78
1778Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN10.78
1779Vater/vacterl associationEnrichmentCDH130.78
1780Arthrogryposis, distal, type 2b1EnrichmentMYH30.78
1781Deafness, autosomal recessive 9EnrichmentMYO15A0.78
1782Macrocephaly/autism syndromeEnrichmentPTEN0.78
1783Rheumatoid arthritis, systemic juvenileEnrichmentIL60.78
1784Atrioventricular septal defectEnrichmentBMP50.78
1785Deafness, autosomal recessive 63EnrichmentMYH90.78
1786Chondrosarcoma, extraskeletal myxoidEnrichmentTCF120.78
1787Goldberg-shprintzen syndromeEnrichmentFBN10.78
1788Cholangitis, primary sclerosingEnrichmentTCF40.78
1789Congenital heart defects, multiple types, 4EnrichmentBMP70.78
1790Glanzmann thrombasthenia 2EnrichmentITGB30.78
1791Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA20.78
1792Pre-eclampsiaEnrichmentFLT10.78
1793Heart conduction diseaseEnrichmentFLNC0.78
1794Cardiac arrestEnrichmentDSP0.78
1795Polycystic liver disease 1EnrichmentFBN10.78
1796Night blindnessEnrichmentEFEMP10.78
1797HemangiomaEnrichmentPTEN0.78
1798Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB30.78
1799Otof-related hearing lossEnrichmentMYO15A0.78
1800Aplasia cutis congenitaEnrichmentITGB40.78
1801Coloboma of choroid and retinaEnrichmentACTG10.78
1802Severe congenital nemaline myopathyEnrichmentACTA10.78
1803Migraine, familial hemiplegic, 1EnrichmentCACNA1A0.78
1804Aniridia 1EnrichmentPAX60.78
1805Spinocerebellar ataxia 6EnrichmentCACNA1A0.78
1806Aland island eye diseaseEnrichmentCACNA1F0.78
1807Developmental and epileptic encephalopathy 2EnrichmentCACNA1A0.78
1808Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C0.78
1809Developmental and epileptic encephalopathy 42EnrichmentCACNA1A0.78
1810Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D20.78
1811Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR10.78
1812Developmental and epileptic encephalopathy 52EnrichmentCACNA1A0.78
1813Malignant hyperthermiaEnrichmentCACNA1S0.78
1814Episodic ataxiaEnrichmentCACNA1A0.78
1815Eyelid colobomaEnrichmentPAX60.78
1816Familial or sporadic hemiplegic migraineEnrichmentCACNA1A0.78
1817Lens colobomaEnrichmentPAX60.78
1818Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK30.77
1819Pelvic organ prolapseEnrichmentTAB20.77
1820RetinoblastomaEnrichmentRB10.77
1821Waardenburg syndrome, type 2aEnrichmentSOX100.77
1822Nijmegen breakage syndromeEnrichmentNBN0.77
1823DysosteosclerosisEnrichmentTNFRSF11A0.77
1824Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL0.77
1825Watson syndromeEnrichmentNF10.77
1826Pituitary hormone deficiency, combined, 2EnrichmentSOX30.77
1827Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC20.77
182846,xx sex reversal 1EnrichmentSOX90.77
1829Severe combined immunodeficiency, x-linkedEnrichmentIL2RG0.77
1830Osteopetrosis, autosomal dominant 1EnrichmentLRP50.77
1831Osteoporosis, juvenileEnrichmentWNT10.77
1832Combined immunodeficiency, x-linkedEnrichmentIL2RG0.77
1833Hepatitis c virusEnrichmentCCR50.77
1834Intellectual developmental disorder, autosomal dominant 5EnrichmentSYNGAP10.77
1835Neurofibromatosis, familial spinalEnrichmentNF10.77
1836Holoprosencephaly 7EnrichmentPTCH10.77
1837Tuberous sclerosis 2EnrichmentTSC20.77
1838Cenani-lenz syndactyly syndromeEnrichmentAPC0.77
1839Woolly hair, autosomal recessive 3EnrichmentRB10.77
1840Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF10.77
1841Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A0.77
1842Hypotrichosis 8EnrichmentRB10.77
1843Koolen-de vries syndromeEnrichmentATM0.77
1844Wieacker-wolff syndromeEnrichmentRASA10.77
1845Nail diseaseEnrichmentFZD60.77
1846Inflammatory bowel disease 25EnrichmentIL10RB0.77
1847Xanthinuria, type iiEnrichmentTSC20.77
1848Familial vesicoureteral refluxEnrichmentSOX170.77
1849Brain cancerEnrichmentNF10.77
1850Desmoplastic/nodular medulloblastomaEnrichmentSUFU0.77
1851Butterfly-shaped pigment dystrophyEnrichmentCTNNA10.77
1852Colon adenocarcinomaEnrichmentAPC0.77
1853Adult-onset myasthenia gravisEnrichmentTNFRSF11A0.77
1854Vogt-koyanagi-harada diseaseEnrichmentFAS0.77
1855Cardiomyopathy, dilated, 1aEnrichmentDSP, FLNC0.77
1856Centronuclear myopathyEnrichmentACTA1, CFL20.77
1857Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF60.76
1858Mosaic variegated aneuploidy syndrome 1EnrichmentPAK60.76
1859Night blindness, congenital stationary, type 1cEnrichmentGNAT10.76
1860Follicular lymphomaEnrichmentBCL20.76
1861LymphomaEnrichmentTP530.76
1862Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, ERBB4, GNB1, TCF40.75
1863Microphthalmia/coloboma 12EnrichmentFZD5, RARB0.74
1864Stereotypic movement disorderEnrichmentSYNGAP1, TCF40.74
1865Deafness, autosomal recessiveEnrichmentCDH23, MYH9, MYO15A, MYO7A0.73
1866Microcephaly 1, primary, autosomal recessiveEnrichmentANGPT20.73
1867Congenital nervous system abnormalityEnrichmentCAMK2B, CREBBP, CTNNB1, FGFR3, GNAO1, GNB5, PSEN1, PTEN, TSC20.73
1868Nervous system diseaseEnrichmentCAMK2B, CREBBP, CTNNB1, FGFR3, GNAO1, GNB5, PSEN1, PTEN, TSC20.73
1869Williams-beuren syndromeEnrichmentELN, LIMK10.72
1870Autosomal recessive nonsyndromic deafnessEnrichmentCDH23, MYH9, MYO15A, MYO7A0.72
1871Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentACAN0.71
1872Glaucoma, primary open angleEnrichmentLTBP20.71
1873Developmental dysplasia of the hip 1EnrichmentCOL2A10.71
1874Weyers acrofacial dysostosisEnrichmentCTNNB10.71
1875Moyamoya disease 1EnrichmentACTA20.71
1876Usher syndrome, type idEnrichmentCDH230.71
1877Dental anomalies and short statureEnrichmentLTBP30.71
1878Deafness, autosomal recessive 12EnrichmentCDH230.71
1879Wiedemann-steiner syndromeEnrichmentSMC30.71
1880Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.71
1881Inflammatory myofibroblastic tumorEnrichmentALK0.71
1882Pain disorderEnrichmentCOL5A10.71
1883Patent ductus arteriosusEnrichmentFLNA0.71
1884Clear cell renal cell carcinomaEnrichmentHNF1A0.71
1885Syndromic rod-cone dystrophyEnrichmentCDH230.71
1886MalariaEnrichmentNOS2, TNF0.71
1887Attention deficit-hyperactivity disorderEnrichmentGNB5, TCF200.71
1888Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR1, SOX110.69
1889Heart diseaseEnrichmentABL1, CREBBP0.69
189046,xy partial gonadal dysgenesisEnrichmentSOS1, SOX90.69
1891Episodic ataxia, type 2EnrichmentCACNA1A0.69
1892AmblyopiaEnrichmentCACNA1F0.69
1893Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentCAPN30.69
1894Congenital short qt syndromeEnrichmentCACNA2D10.69
1895Rare syndromic intellectual disabilityEnrichmentUBTF0.69
1896Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D2, GNAO10.66
1897Metachromatic leukodystrophyEnrichmentGFAP0.66
1898Mirror movements 1EnrichmentRAD510.66
1899Polydactyly, preaxial iiEnrichmentPTCH10.66
1900Microphthalmia, syndromic 3EnrichmentSOX20.66
1901Hemophilia aEnrichmentACVRL10.66
1902Budd-chiari syndromeEnrichmentJAK20.66
1903Paget disease of bone 2, early-onsetEnrichmentTNFRSF11A0.66
1904Immunodeficiency, common variable, 1EnrichmentTNFRSF13B0.66
1905Lymphoproliferative syndrome 2EnrichmentCD270.66
1906Factor viii deficiencyEnrichmentACVRL10.66
1907Au-kline syndromeEnrichmentVHL0.66
1908Lynch syndrome 4EnrichmentRB10.66
1909Dowling-degos diseaseEnrichmentPSENEN0.66
1910Orofacial cleftEnrichmentLRP60.66
1911Hepatitis bEnrichmentIL10RB0.66
1912Cerebrovascular diseaseEnrichmentNOTCH30.66
1913Adenosine deaminase deficiencyEnrichmentJAK30.66
1914Hemoglobin c diseaseEnrichmentCHEK20.66
1915Paget's disease of bone 2EnrichmentTNFRSF11A0.66
1916Primary hyperparathyroidismEnrichmentCDKN1B0.66
1917VitreoretinopathyEnrichmentLRP50.66
1918Orofacial clefting syndromeEnrichmentLRP60.66
1919Middle aortic syndromeEnrichmentNF10.66
1920Silver-russell syndrome 1EnrichmentIGF20.65
1921Usher syndrome, type iiaEnrichmentCDH230.65
1922MegacolonEnrichmentAKT30.65
1923Epidermolysis bullosa simplexEnrichmentITGB40.65
1924Myofibrillar myopathyEnrichmentFLNC0.65
1925Childhood-onset nemaline myopathyEnrichmentACTA10.65
1926Hypophosphatemic ricketsEnrichmentFGF230.65
1927West syndromeEnrichmentGNAO1, NTRK2, PLCB10.65
1928Coloboma of maculaEnrichmentFZD5, RARB0.65
1929Coffin-siris syndrome 1EnrichmentSOX11, SOX40.65
1930BrachydactylyEnrichmentGNAS0.63
1931Auditory neuropathyEnrichmentCDH2, MYO7A0.63
1932Coloboma of optic nerveEnrichmentPAX60.62
1933Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S0.62
1934Muscular dystrophy, limb-girdle, autosomal recessive 1EnrichmentCAPN30.62
1935Childhood absence epilepsyEnrichmentCACNA1H0.62
1936Fanconi anemia, complementation group cEnrichmentFLNA0.60
1937Isolated growth hormone deficiency, type iaEnrichmentGH10.60
1938Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.60
1939Lennox-gastaut syndromeEnrichmentMAPK100.60
1940NeuroblastomaEnrichmentALK0.60
1941Hypoplastic left heart syndromeEnrichmentMYH60.60
1942Childhood-onset schizophreniaEnrichmentFREM20.60
1943Early-onset posterior polar cataractEnrichmentEPHA20.60
1944Mosaic variegated aneuploidy syndromeEnrichmentPAK60.58
1945HypothyroidismEnrichmentGNB10.58
1946Choreatic diseaseEnrichmentGNAO10.58
1947Permanent neonatal diabetes mellitusEnrichmentSTAT30.58
1948Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC30.57
1949Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH30.57
1950Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK30.57
1951Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentSOX100.57
1952Norrie diseaseEnrichmentFZD40.57
1953Breast-ovarian cancer, familial 2EnrichmentBRCA10.57
1954Chromosome 15q11.2 deletion syndromeEnrichmentTUBG10.57
1955Rubinstein-taybi syndrome 2EnrichmentEP3000.57
1956GlioblastomaEnrichmentATM0.57
1957Persistent hyperplastic primary vitreousEnrichmentFZD40.57
1958Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS0.57
1959DementiaEnrichmentPSEN10.57
1960Aggressive systemic mastocytosisEnrichmentCBL0.57
1961Alzheimer disease, familial, 1EnrichmentCSF1R, PSEN10.57
1962Orofacial cleft 1EnrichmentFGF100.56
1963Cornelia de lange syndrome 1EnrichmentSMC30.56
1964Cardiomyopathy, familial hypertrophic, 4EnrichmentMYH70.56
1965Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentDSP0.56
1966Congenital central hypoventilation syndromeEnrichmentBDNF0.56
1967Cornelia de lange syndromeEnrichmentSMC30.56
1968Hypotrichosis simplexEnrichmentCDH30.56
1969Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.56
1970Narcolepsy 1EnrichmentTNFSF40.55
1971Male infertility due to globozoospermiaEnrichmentSEPTIN40.55
1972Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, GNAS0.55
1973Stargardt disease 1EnrichmentCOL18A1, COL2A10.54
1974Nephrotic syndrome, type 1EnrichmentPLCE10.54
1975Developmental and epileptic encephalopathy 14EnrichmentPLCB10.54
1976Cone dystrophyEnrichmentCACNA2D4, GNAT20.53
1977Muscular dystrophyEnrichmentCAPN3, COL6A20.53
1978Long qt syndromeEnrichmentDSP, MYH60.52
1979Cat eye syndromeEnrichmentACTG10.52
1980Cataract 30, multiple typesEnrichmentVIM0.52
1981Meier-gorlin syndrome 1EnrichmentFGFR20.52
1982Ciliary dyskinesia, primary, 3EnrichmentNFKB10.52
1983Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMUSK0.52
1984PolymicrogyriaEnrichmentAKT30.52
1985Alternating hemiplegia of childhoodEnrichmentCACNA1A0.51
1986Difference of sex developmentEnrichmentCACNA1A0.51
1987Rheumatoid arthritisEnrichmentIL100.51
1988Chronic granulomatous diseaseEnrichmentNCF20.51
1989Klippel-trenaunay-weber syndromeEnrichmentRASA10.51
1990Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.51
1991Pierre robin syndromeEnrichmentSOX90.51
1992Waardenburg syndrome, type 4aEnrichmentSOX100.51
1993HypertrichosisEnrichmentCREBBP0.51
1994Waardenburg syndromeEnrichmentSOX100.51
1995Multicystic kidney dysplasiaEnrichmentFZD30.51
1996Multicystic dysplastic kidneyEnrichmentFZD30.51
1997Sporadic pheochromocytoma/secreting paragangliomaEnrichmentVHL0.51
1998Familial colorectal cancerEnrichmentTP530.50
1999Usher syndromeEnrichmentCDH23, MYO7A0.48
2000Diabetes mellitusEnrichmentHNF1A0.48
2001Limb-girdle muscular dystrophyEnrichmentCAPN30.47
2002Movement diseaseEnrichmentGNAO10.47
2003StrabismusEnrichmentCACNA1A, GNB10.47
2004DystoniaEnrichmentCAMK2B, GNAL, GNB10.45
2005Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.45
2006Waardenburg syndrome, type 1EnrichmentSOX100.45
2007Coats diseaseEnrichmentFZD40.45
2008Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBB2B0.45
2009Semantic dementiaEnrichmentPSEN10.45
2010Polycystic kidney disease 1EnrichmentTSC20.45
2011Congenital hydrocephalusEnrichmentPTCH10.45
2012Moyamoya angiopathyEnrichmentABL10.45
2013Digeorge syndromeEnrichmentHNF1A0.45
2014Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D4, IMPG2, ITGA40.44
2015Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, ERBB4, MEF2C0.44
2016Primary autosomal recessive microcephalyEnrichmentANGPT2, CIT0.43
2017Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A10.43
2018ClubfootEnrichmentCOL5A10.43
2019Visceral heterotaxyEnrichmentACVR2B, LEFTY20.42
202046 xx gonadal dysgenesisEnrichmentBMP150.41
2021Protein-deficiency anemiaEnrichmentNRAS0.41
2022Spermatogenic failure 5EnrichmentAURKC0.41
2023Ewing sarcomaEnrichmentNF10.41
2024Severe congenital neutropeniaEnrichmentCSF3R0.41
2025Epilepsy, myoclonic juvenileEnrichmentCACNB40.40
2026Epilepsy, idiopathic generalizedEnrichmentCACNA1H0.40
2027Periventricular nodular heterotopiaEnrichmentFLNA0.40
2028Walker-warburg syndromeEnrichmentCOL4A10.40
2029Generalized epilepsy with febrile seizures plusEnrichmentFGF130.40
2030Atypical hemolytic-uremic syndromeEnrichmentCOL4A50.38
2031Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentCAPN30.37
2032Tooth agenesis, selective, 1EnrichmentBMPR20.37
2033Neurofibromatosis, type iEnrichmentNF10.37
2034Myoclonic-atonic epilepsyEnrichmentSYNGAP10.37
2035Bilateral perisylvian polymicrogyriaEnrichmentTUBB2B0.37
2036Progressive non-fluent aphasiaEnrichmentPSEN10.37
2037Behavioral variant of frontotemporal dementiaEnrichmentPSEN10.37
2038Wolff-parkinson-white syndromeEnrichmentMYH70.36
2039Perrault syndrome 1EnrichmentFBN10.36
2040Complex neurodevelopmental disorderEnrichmentMYH10, PPP2CA, RAC3, TCF20, TCF7L20.35
2041Interstitial lung disease 2EnrichmentDSP0.34
2042Cataract 44EnrichmentEPHA20.34
2043Aplastic anemiaEnrichmentNBN0.34
2044AutismEnrichmentCOL11A1, TCF20, TCF7L20.33
2045Hypertension, essentialEnrichmentGNB30.32
2046Polycystic kidney diseaseEnrichmentCOL4A40.32
2047Early-onset nuclear cataractEnrichmentEPHA20.32
2048NanophthalmosEnrichmentSOX20.31
2049Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.31
2050Charcot-marie-tooth diseaseEnrichmentARHGEF10, LAMA20.31
2051Isolated congenital microcephalyEnrichmentBRF10.28
2052Congenital hypothyroidismEnrichmentTUBB10.28
2053Cardiomyopathy, dilated, 1gEnrichmentDSP0.26
2054Premature menopauseEnrichmentNBN0.26
2055Multisystem inflammatory syndrome in childrenEnrichmentIRAK30.25
2056Seckel syndromeEnrichmentATR0.24
2057Familial atrial fibrillationEnrichmentMYL40.24
2058Autoinflammatory diseaseEnrichmentTNFRSF1A0.24
2059Autosomal recessive limb-girdle muscular dystrophyEnrichmentCAPN30.24
2060Diamond-blackfan anemia 1EnrichmentTP530.24
2061Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.22
2062Male infertility with spermatogenesis disorderEnrichmentAURKC0.22
2063Developmental and epileptic encephalopathy 1EnrichmentGNAO10.21
2064Retinitis pigmentosaEnrichmentCDH23, CDH3, COL18A1, IMPG1, IMPG2, MERTK, MYO7A0.20
2065Long qt syndrome 1EnrichmentDSP0.18
2066Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP1, EZR0.17
2067Cystic fibrosisEnrichmentTGFB10.16
2068Peripheral nervous system diseaseEnrichmentNGF0.16
2069NeuropathyEnrichmentNGF0.16
2070Spastic ataxiaEnrichmentCACNA1G, CACNB40.16
2071Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.14
2072Diamond-blackfan anemiaEnrichmentTP530.13
2073Primary ciliary dyskinesiaEnrichmentDRC4, PRKAR1B0.11
2074Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.10
2075Centralopathic epilepsyEnrichmentPLCB10.09
2076Isolated joubert syndromeEnrichmentSUFU0.07
2077Optic atrophy plus syndromeEnrichmentCACNA1F0.06
2078Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.06
2079Male infertilityEnrichmentSOX300.06
2080Mitochondrial diseaseEnrichmentGFER0.02
2081Leber plus diseaseEnrichmentGDF60.01

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