Infectious disease

Pathway network for the Infectious disease SuperPath

Sources:
  • Reactome

Pathways in the Infectious disease SuperPath

#NameSourceGenes
1Infectious diseaseReactome
(see all 1034) (see less)
2DiseaseReactome
(see all 1851) (see less)
3Viral Infection PathwaysReactome
(see all 818) (see less)

Gene overlap in member pathways for Infectious disease SuperPath

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

Disorders associated with Infectious disease SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Viral infectious diseaseDirect
2Breast cancerEnrichmentABCA1, AKT1, APC, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CASP8, CYP17A1, EPCAM, ESR1, GNG3, JUN, KLC1, KRAS, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PAH, PALB2, PHB1, PIK3CA, PMS2, PTEN, RAD50, RAD51, RAD51C, RAD51D, SHC1, SLC67A1, TP53, XRCC216.00
3Gastric cancerEnrichmentAPC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, EPCAM, ERBB2, FGFR2, IL1B, KRAS, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PIK3CA, PMS2, PTEN, RAD51C, RAD51D, SMAD4, TP5311.56
4Diamond-blackfan anemiaEnrichmentRPL11, RPL15, RPL17, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS711.47
5Ovarian cancerEnrichmentAKT1, ALK, APC, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDKN1B, CDKN2A, CTNNB1, EGFR, ERBB2, ERCC2, ERCC3, EXT1, EXT2, KIT, KRAS, MET, MRE11, MSH2, MSH6, MUC16, MUTYH, NBN, PALB2, PDGFRA, PIK3CA, PMS2, PTEN, RAD50, RAD51C, RAD51D, RB1, TP53, TRIM24, TSC2, WRN10.15
6Colorectal cancerEnrichmentAKT1, AMER1, APC, ATM, BLM, BRAF, BRCA1, BRCA2, BRIP1, CCND1, CTNNB1, EP300, EPCAM, ERBB2, FBXW7, FGFR2, FGFR3, MET, MLH1, MSH2, MSH6, MUTYH, NFE2L2, NRAS, PALB2, PIK3CA, PIK3R1, PMS2, PTPN12, RAD51D, RMI1, SLC9A9, SMAD4, SRC, TLR2, TP539.76
7Hereditary breast carcinomaEnrichmentAKT1, APC, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, EPCAM, ESR1, KRAS, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PTEN, RAD50, RAD51, RAD51D, SLC67A1, TP539.76
8Diffuse large b-cell lymphomaEnrichmentBRAF, BRCA2, BTK, CD79B, CREBBP, DNMT3A, ETV6, FOXO1, MYD88, NBN, PMS2, PTEN, STAT3, TBL1XR1, TP539.60
9Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, KRAS, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PLK2, PMS2, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RIPK1, SLC34A2, TP53, XRCC29.54
10Inherited cancer-predisposing syndromeEnrichmentALK, APC, ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDK4, CDKN1B, CDKN2A, EGFR, EPCAM, ERCC3, EXT2, EZH2, KIT, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PMS2, PRKAR1A, PTEN, PTPN11, RAD50, RAD51B, RAD51C, RAD51D, RB1, RPS20, RUNX1, SMAD4, TP53, TSC2, VHL, XRCC28.77
11Bladder cancerEnrichmentATM, BRCA1, BRCA2, CDKN1A, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB3, ERCC2, FGFR3, HRAS, KRAS, NF1, PIK3CA, PTEN, RB1, TP538.72
12Endometrial cancerEnrichmentATM, BARD1, BLM, BRCA1, BRCA2, FGFR2, MLH1, MSH2, MSH3, MSH6, MUTYH, PIK3CA, PMS2, PTEN, RAD51C8.61
13Multisystem inflammatory syndrome in childrenEnrichmentCD163, IFIH1, IFNA21, IFNA4, IFNA6, IFNAR2, IFNB1, IRF3, NLRP12, TLR3, TLR6, TRAF37.94
14Noonan syndrome and noonan-related syndromeEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED17.91
15RasopathyEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PAH, PPP1CB, PTPN11, RAF1, SHOC2, SLC26A4, SOS17.73
16Diamond-blackfan anemia 1EnrichmentRPL11, RPL17, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS77.65
17Congenital disorder of glycosylation, type inEnrichmentALG1, ALG13, ALG3, DPAGT1, MAGT1, NUS1, PGM1, PMM2, RFT1, SLC35A2, SLC37A4, SRD5A36.89
18Noonan syndrome 1EnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, SHOC2, SOS1, SPRED26.74
19RhabdomyosarcomaEnrichmentALK, BRCA1, BRCA2, CBL, HRAS, MSH2, MSH6, NF1, PMS2, PTEN, TP536.17
20Uterine corpus cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, MSH2, MSH6, PALB2, PTEN, RAD51C6.17
21ThrombocytopeniaEnrichmentADAMTS13, ETV6, F10, F11, F8, FGG, GNE, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MYH9, PTPN11, RUNX1, SMAD4, SRC, TUBB1, VWF, WAS5.78
22Myeloma, multipleEnrichmentARID4A, ATM, BARD1, BRAF, BRCA2, CCND1, CRBN, CREBBP, DNMT3A, FGFR3, FLT3, H2AC16, H2AC17, H3C1, HDAC4, KMT2D, KRAS, LIG4, NCOR2, NF1, PIK3R2, TP535.78
23Lip and oral cavity carcinomaEnrichmentABL1, BRAF, CDKN2A, EGFR, HRAS, KIT, PIK3CA, RB1, TP535.62
24Lynch syndromeEnrichmentCFTR, EPCAM, GNE, KRAS, MLH1, MSH2, MSH6, PIK3CA, PMS2, TGFBR25.47
25Lynch syndrome 1EnrichmentATM, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51D5.38
26Lung cancerEnrichmentALK, BRAF, BRCA1, CASP8, EGFR, ERBB2, KMT2D, KRAS, MET, MLH1, NFE2L2, PALB2, PIK3CA, PPP2R1B, SLC67A15.24
27Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentACAN, B3GALT6, B3GAT3, B4GALT7, CHST3, GLB15.19
28Inflammatory myofibroblastic tumorEnrichmentALK, CARS1, CLTC, RANBP2, TPM3, TPM45.19
29Lung squamous cell carcinomaEnrichmentALK, CDKN2A, EGFR, FGFR3, KRAS, PIK3CA5.19
30Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, BRCA2, BRIP1, MSH2, NBN, PALB2, RAD51C, RAD51D5.16
31Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA4.88
32Adult hepatocellular carcinomaEnrichmentAXIN1, CASP8, CTNNB1, EGF, PIK3CA, TP53, TSC24.61
33Colonic benign neoplasmEnrichmentAPC, ATM, EPCAM, MLH1, MRE11, MUTYH, PALB24.61
34Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC42, PTPN11, YWHAZ4.47
35Noonan syndrome 3EnrichmentCLTC, HRAS, KRAS, PTPN11, RAF1, SOS14.40
36Gallbladder cancerEnrichmentBRAF, CTNNB1, KRAS, PIK3CA, SMAD4, TP534.40
37Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KIAA1549, KRAS, NTRK2, RAF14.40
38B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, BCR, CDKN2A, FLT3, HLA-C, TP534.40
39Herpes simplex virus encephalitisEnrichmentTBK1, TICAM1, TLR3, TRAF3, UNC93B14.33
40Hereditary pulmonary alveolar proteinosisEnrichmentABCA3, CSF2RA, CSF2RB, SFTPB, SFTPC4.33
41Primary hypereosinophilic syndromeEnrichmentETV6, FGFR1, FIP1L1, PDGFRA, PDGFRB4.33
42Autosomal dominant macrothrombocytopeniaEnrichmentGP1BA, GP1BB, ITGA2B, ITGB3, TPM4, TUBA8, TUBB14.14
43GliosarcomaEnrichmentATM, DNMT3A, EGFR, FGFR1, FGFR3, IDH1, MSH2, NFKBIA, TP534.13
44Giant cell glioblastomaEnrichmentATM, DNMT3A, EGFR, FGFR1, FGFR3, IDH1, MSH2, NFKBIA, TP533.86
45Glycogen storage diseaseEnrichmentG6PC1, GAA, GBE1, GYG1, GYS1, GYS2, SLC37A43.76
46HepatoblastomaEnrichmentAPC, BARD1, BRCA2, CTNNB1, ERCC2, EXT2, FGFR3, JAG1, MSH2, TP533.74
47Pancreatic cancerEnrichmentATM, BRCA1, BRCA2, BRIP1, CDKN2A, KRAS, NBN, PALB2, RBBP8, SMAD4, TP533.68
48Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, SLC67A1, TP533.60
49Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A2, TGFBR13.60
50Hepatocellular carcinomaEnrichmentAPC, AXIN1, CASP8, CTNNB1, MET, NBN, PIK3CA, PMS2, RAD50, TP533.53
51Behcet syndromeEnrichmentHLA-B, IFNGR1, IL10, MEFV, NOD2, PSTPIP1, TLR43.49
52Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K23.46
53IminoglycinuriaEnrichmentSLC36A2, SLC6A18, SLC6A19, SLC6A203.46
54Mismatch repair cancer syndrome 1EnrichmentMLH1, MSH2, MSH6, PMS23.46
55Lynch syndrome 4EnrichmentMSH2, MSH6, PMS2, RB13.46
56Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K23.46
57CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB1, ERCC23.46
58Intermediate maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT, PPM1K3.46
59Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C93.35
60Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB33.35
61Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A53.35
62Chronic mucocutaneous candidiasisEnrichmentIL17F, IL17RA, IL17RC, STAT13.35
63LissencephalyEnrichmentACTG1, DYNC1H1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB33.18
64Acute promyelocytic leukemiaEnrichmentFIP1L1, NPM1, PML, PRKAR1A, STAT3, STAT5B, TBL1XR13.15
65Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A3, LAMA5, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP933.11
66Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA3.11
67Leukemia, chronic myeloidEnrichmentABL1, BCR, KRAS, NRAS, RUNX13.11
68Presynaptic congenital myasthenic syndromesEnrichmentAGRN, LAMA5, SNAP25, SYT2, VAMP13.10
69Polycystic liver diseaseEnrichmentALG8, ALG9, CDC25A, CTNNB1, GANAB, LRP5, LRP6, PRKCSH3.04
70Autosomal dominant polycystic liver diseaseEnrichmentALG8, ALG9, CDC25A, CTNNB1, GANAB, LRP5, LRP6, PRKCSH3.04
71Differentiated thyroid carcinomaEnrichmentALK, BRAF, ETV6, HRAS, KRAS, NRAS, NTRK3, TFG, TPR, TRIM24, TRIM273.02
72Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, FGF10, KRAS, RB1, TP532.91
73Walker-warburg syndromeEnrichmentB4GAT1, COL4A1, DAG1, LARGE1, POMGNT1, POMT1, POMT22.91
74LymphomaEnrichmentKMT2D, PMS2, PTPN11, TP532.81
75HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN2.81
76Congenital myasthenic syndromes with glycosylation defectEnrichmentALG14, ALG2, DPAGT1, GFPT12.81
77Familial thoracic aortic aneurysm and aortic dissectionEnrichmentBGN, COL1A1, COL5A1, COL5A2, HEY2, MED12, NOTCH1, SLC2A10, SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR2, THSD42.81
78Human immunodeficiency virus type 1EnrichmentCCR5, CD209, CX3CR1, HLA-C, IL10, TLR32.79
79Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, WNT5A2.78
80TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B2.78
81Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, WNT5A2.78
82Leukemia, acute myeloidEnrichmentDNMT3A, ETV6, FLT3, IDH1, JAK2, KIT, KRAS, NPM1, NRAS, NUP214, RUNX1, SH3GL1, TP532.74
83Melanocytic nevus syndrome, congenitalEnrichmentALK, BRAF, HRAS, NRAS, RAF12.74
84Glioma susceptibility 1EnrichmentERBB2, H3-3A, H3C1, IDH1, TP532.74
85Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentABCD4, LMBRD1, MMACHC, MMADHC, PRDX12.74
86Protein-deficiency anemiaEnrichmentHBA1, HBA2, HBB, RPL11, RPS262.71
87Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR32.60
88Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, GALNT3, KL2.60
89Maple syrup urine disease, type iaEnrichmentBCKDHA, BCKDHB, DBT2.60
90Spinal muscular atrophy, type ivEnrichmentMCCC2, SMN1, SMN22.60
91Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS2.60
92Dysfibrinogenemia, congenitalEnrichmentFGA, FGB, FGG2.60
93Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsEnrichmentB3GAT3, B4GALT7, CHST32.60
94Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT32.60
95Alpha thalassemia-intellectual disability syndrome type 1EnrichmentATRX, HBA1, HBA22.60
96Larsen-like syndrome b3gat3 typeEnrichmentB3GAT3, B4GALT7, CHST32.60
97Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR22.60
98Familial dysfibrinogenemiaEnrichmentFGA, FGB, FGG2.60
99Familial hypofibrinogenemiaEnrichmentFGA, FGB, FGG2.60
100Pediatric acute respiratory distress syndromeEnrichmentABCA3, SFTPB, SFTPC2.60
101KeratoacanthomaEnrichmentNOTCH1, NOTCH2, PIK3CA2.60
102Intermittent maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT2.60
103Classic maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT2.60
104TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2E2, GTF2H52.51
105Loeys-dietz syndromeEnrichmentABCA3, SMAD2, SMAD3, TGFBR1, TGFBR22.43
106Primary hyperaldosteronismEnrichmentATRX, BRAF, GNAS, NR3C1, TP532.43
107Prostate cancerEnrichmentATM, BRCA1, BRCA2, MSH6, NBN, PALB2, PIK3CA, PTEN, RAD51D, TP532.43
108Congenital nervous system abnormalityEnrichmentAAAS, ABCD1, ATRX, CAMK2B, CREBBP, CTNNB1, CYP2U1, DNMT3A, DYNC1H1, EPM2A, ERLIN2, FGFR3, GNB5, KMT2D, MECP2, POMGNT1, POMT1, PSEN1, PTEN, SLC22A5, SRD5A3, TSC2, TUBA1A, TUBB4A, TUSC32.42
109Nervous system diseaseEnrichmentAAAS, ABCD1, ATRX, CAMK2B, CREBBP, CTNNB1, CYP2U1, DNMT3A, DYNC1H1, EPM2A, ERLIN2, FGFR3, GNB5, KMT2D, MECP2, POMGNT1, POMT1, PSEN1, PTEN, SLC22A5, SRD5A3, TSC2, TUBA1A, TUBB4A, TUSC32.42
110Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A52.41
111Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, WNT5A2.41
112Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A52.41
113Spinal muscular atrophyEnrichmentDYNC1H1, SMN1, SMN22.41
114Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A52.41
115Corpus callosum, agenesis ofEnrichmentCOL4A1, CREBBP, ERCC2, MED12, TUBA1A2.40
116Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB2, MEFV2.40
117Isolated corpus callosum agenesisEnrichmentCOL4A1, CREBBP, ERCC2, MED12, TUBA1A2.40
118Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A1, CREBBP, ERCC2, MED12, TUBA1A2.40
119Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A22.39
120Epidermolysis bullosa, junctional 1a, intermediateEnrichmentGALK1, LAMA3, LAMB3, LAMC22.39
121Hemangioma, capillary infantileEnrichmentANTXR1, CCNH, KDR, MYH92.39
122Developmental and epileptic encephalopathy 36EnrichmentALG1, ALG13, DPM1, PMM22.39
123Junctional epidermolysis bullosa non-herlitz typeEnrichmentGALK1, LAMA3, LAMB3, LAMC22.39
124Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, PRKAR1A, TP532.39
125Mucopolysaccharidosis iiiEnrichmentGNS, HGSNAT, NAGLU, SGSH2.39
126Fetomaternal alloimmune thrombocytopenia 1EnrichmentGP1BA, GP1BB, ITGA2B, ITGB32.39
127Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA, RIPK1, TGFB12.39
128PolymicrogyriaEnrichmentAKT3, ATP1A2, DYNC1H1, PSMC32.31
129MicrocephalyEnrichmentABL1, ACTB, ACTG1, COL4A1, CTNNB1, DYNC1H1, EP300, GEMIN4, GNB1, IGF1R, MAPK1, MED12, NUP188, PSMC3, PTPN11, SNAP25, TUBB4A, YWHAG2.26
130Fibromatosis, gingival, 1EnrichmentREST, SOS12.24
131Wiskott-aldrich syndromeEnrichmentWAS, WIPF12.24
132Severe cutaneous adverse reactionEnrichmentHLA-A, HLA-B2.24
133Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A2.24
134Lig4 syndromeEnrichmentLIG4, XRCC42.24
135Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP1, NCKAP1L2.24
136Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C32.24
137Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C112.24
138Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET2.24
139Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA2.24
140Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG12.24
141Lymphomatoid papulosisEnrichmentNPM1, TYK22.24
142Singleton-merten syndromeEnrichmentIFIH1, RIGI2.24
143Immunodeficiency 72EnrichmentNCKAP1, NCKAP1L2.24
144Tafro syndromeEnrichmentMAP2K2, RUNX12.24
145X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A62.24
146Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM1, TYK22.24
147Leukemia, chronic lymphocyticEnrichmentATM, CCND1, P2RX7, RPS15, TP532.19
148Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, CD79A, CD79B, PIK3CD, PIK3R12.19
149Seckel syndromeEnrichmentATR, ATRIP, DNA2, NUP85, PRIM1, RBBP82.14
150Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC22.13
151Methemoglobinemia, beta typeEnrichmentHBA1, HBA2, HBB2.13
152Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, WNT5A2.13
153Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB32.13
154Autosomal dominant secondary polycythemiaEnrichmentHBA1, HBA2, HBB2.13
155Type 2 diabetes mellitusEnrichmentABCC8, AKT2, GCK, HMGA1, IL6, IRS1, IRS2, KCNJ11, RBPJ, SLC2A2, TCF7L2, WRN2.07
156Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS, PTEN2.07
157Capillary malformation-arteriovenous malformation 1EnrichmentCCNH, KRAS, MAP2K1, PIK3CA2.07
158Renal cell carcinoma, papillary, 1EnrichmentATM, MET, MTOR, VHL2.07
159Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS, PTEN2.07
160Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS2.04
161Glycogen storage disease iaEnrichmentG6PC1, GAA, SLC37A42.04
162Afibrinogenemia, congenitalEnrichmentFGA, FGB, FGG2.04
163Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R22.04
164Propionic acidemiaEnrichmentPAH, PCCA, PCCB2.04
165Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND2, PIK3R22.04
166Saethre-chotzen syndromeEnrichmentFGFR2, FGFR3, TWIST12.04
167Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS2.04
168Cerebrovascular diseaseEnrichmentNOTCH3, PIK3CA, RNF2132.04
169Embryonal rhabdomyosarcomaEnrichmentNF1, SLC67A1, TP532.04
170Noonan syndrome with multiple lentiginesEnrichmentBRAF, PTPN11, RAF12.04
171Sick sinus syndromeEnrichmentCORO1A, LMNA, MECP22.04
172GliomaEnrichmentFGFR2, NTRK3, PTEN2.04
173Middle aortic syndromeEnrichmentJAG1, NF1, RNF2132.04
174Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A2, SMAD3, TGFBR2, THBS22.01
175Severe combined immunodeficiencyEnrichmentADA, CD247, CD3G, CORO1A, IKBKB, JAK3, LCK, LIG4, PNP, ZAP701.99
176Immune deficiency diseaseEnrichmentATM, RIPK1, SLC37A4, SYK, UNC93B11.97
177Leukemia, acute lymphoblasticEnrichmentCDKN2A, ETV6, FLT3, GNB1, NBN1.97
178OsteochondrodysplasiaEnrichmentCOL1A1, COL1A2, FGFR3, GALNS, SLC26A21.97
179Atypical hemolytic-uremic syndromeEnrichmentADAMTS13, C1GALT1C1, C3, COL4A5, HBB, MMACHC1.97
180MyelofibrosisEnrichmentCALR, JAK2, SRC1.91
181Cerebral palsyEnrichmentBRCA2, COL4A1, COL4A2, F2, F8, GNB1, PALS1, PDGFRB, PMM2, TUBA1A, TUBB4A1.89
182Lymphoma, non-hodgkin, familialEnrichmentB2M, BRAF, PRF1, TP531.81
183Alternating hemiplegia of childhoodEnrichmentATP1A2, ATP1A3, SLC1A3, SLC2A11.81
184Methylmalonic acidemiaEnrichmentMMAA, MMAB, MMACHC, MMUT1.81
185Permanent neonatal diabetes mellitusEnrichmentABCC8, GCK, KCNJ11, STAT31.81
186Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NF1, NRAS, PTPN111.79
187Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH9, TUBB11.78
188Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A41.78
189Spinal muscular atrophy, type iiiEnrichmentSMN1, SMN21.78
190Spinal muscular atrophy, type iEnrichmentSMN1, SMN21.78
191Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentMED12, ZDHHC91.78
192Simpson-golabi-behmel syndrome, type 1EnrichmentGPC3, GPC41.78
193Spinal muscular atrophy, type iiEnrichmentSMN1, SMN21.78
194Weaver syndromeEnrichmentEZH2, SUZ121.78
195Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A21.78
196Mednik syndromeEnrichmentAP1B1, AP1S11.78
197Diamond-blackfan anemia 15 with mandibulofacial dysostosisEnrichmentRPS26, RPS281.78
198Chromosome 5q14.3 deletion syndrome, distalEnrichmentMAP1B, NEDD4L1.78
199Neutrophilic dermatosis, acute febrileEnrichmentMEFV, PTPN61.78
200Anus, imperforateEnrichmentCTNNB1, MED121.78
201Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C51.78
202Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA1, VCP1.78
203Immunodeficiency 44EnrichmentIFNAR2, STAT21.78
204Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS, KDM1A1.78
205Neonatal inflammatory skin and bowel diseaseEnrichmentADAM17, EGFR1.78
206Heinz body anemiasEnrichmentHBA1, HBA2, HBB1.73
207Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM31.73
208Heinz body anemiaEnrichmentHBA1, HBA2, HBB1.73
209HyperglycinuriaEnrichmentSLC36A2, SLC6A191.73
210Burkitt lymphomaEnrichmentMYC, PMS21.73
211Exostoses, multiple, type iEnrichmentEXT1, EXT21.73
212Muir-torre syndromeEnrichmentMLH1, MSH21.73
213Galactosemia iiEnrichmentGALK1, NR3C11.73
214Fructose intolerance, hereditaryEnrichmentALDOB, ANO51.73
215Dihydrolipoamide dehydrogenase deficiencyEnrichmentBCKDHB, DLD1.73
216Spondyloepimetaphyseal dysplasia, x-linkedEnrichmentABCD1, BGN1.73
217Surfactant metabolism dysfunction, pulmonary, 1EnrichmentABCA3, SFTPB1.73
218Osteopathia striata with cranial sclerosisEnrichmentAMER1, CTNNB11.73
219Dermatofibrosarcoma protuberansEnrichmentCOL1A1, PDGFB1.73
220Blue cone monochromacyEnrichmentOPN1LW, OPN1MW1.73
221Cervical cancerEnrichmentFGFR3, TP531.73
222Immunodeficiency 33EnrichmentIKBKG, IRAK41.73
223Pulmonic stenosisEnrichmentBRAF, SOS11.73
224Cholestasis, progressive familial intrahepatic, 3EnrichmentABCB11, ABCB41.73
225Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR21.73
226Gallbladder disease 4EnrichmentABCG5, ABCG81.73
227Keratosis, seborrheicEnrichmentFGFR3, PIK3CA1.73
228Pfeiffer syndromeEnrichmentFGFR1, FGFR21.73
229Diabetes mellitus, permanent neonatal, 1EnrichmentGCK, KCNJ111.73
230Jackson-weiss syndromeEnrichmentFGFR1, FGFR21.73
231Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS1.73
232Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS1.73
233Ehlers-danlos syndrome, dermatosparaxis typeEnrichmentADAMTS2, ADAMTSL21.73
234Bleeding disorder, platelet-type, 19EnrichmentGNE, PRKACG1.73
235Hypophosphatemic rickets with hypercalciuria, hereditaryEnrichmentSLC34A1, SLC34A31.73
236Factor xii deficiencyEnrichmentF12, SLC34A11.73
237Ehlers-danlos syndrome, spondylodysplastic type, 2EnrichmentB3GALT6, B4GALT71.73
238Syndactyly, type iiiEnrichmentGJA1, HDAC81.73
239Cholestasis, intrahepatic, of pregnancy 3EnrichmentABCB11, ABCB41.73
240Hemophilia bEnrichmentF8, F91.73
241Werner syndromeEnrichmentPTPN11, WRN1.73
242Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A21.73
243Infantile myofibromatosisEnrichmentNOTCH3, PDGFRB1.73
2443-methylcrotonyl-coa carboxylase deficiencyEnrichmentMCCC1, MCCC21.73
245Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB, SHOC21.73
246Diffuse midline glioma, h3 k27m-mutantEnrichmentBRCA2, BRIP11.73
247Nephrolithiasis/osteoporosis, hypophosphatemic, 1EnrichmentSLC34A1, SLC34A31.73
248Myasthenic syndrome, congenital, 20, presynapticEnrichmentSLC22A5, SLC5A71.73
249Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA1.73
250Surfactant metabolism dysfunction, pulmonary, 3EnrichmentABCA3, F81.73
251Lipodystrophy, familial partial, type 1EnrichmentLMNA, NOTCH31.73
252Short stature, microcephaly, and endocrine dysfunctionEnrichmentXRCC2, XRCC41.73
253Congenital mesoblastic nephromaEnrichmentETV6, NTRK31.73
254Familial renal hypouricemiaEnrichmentSLC22A12, SLC2A91.73
255Cervix carcinomaEnrichmentFGFR3, TP531.73
256Immune system diseaseEnrichmentCDC42, PIK3CD1.73
257FibrosarcomaEnrichmentETV6, NTRK31.73
258Leber congenital amaurosis 14EnrichmentABCA4, LRAT1.73
259Microcephaly, growth restriction, and increased sister chromatid exchange 2EnrichmentRMI2, TOP3A1.73
260Inflammatory breast carcinomaEnrichmentBRCA1, BRCA21.73
261Disorders of intracellular cobalamin metabolismEnrichmentMMACHC, MTR1.73
262Acute myeloid leukemia without maturationEnrichmentFLT3, NPM11.73
263Intrahepatic cholestasisEnrichmentABCB11, ABCB41.73
264Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B1.73
265Autosomal recessive infantile hypercalcemiaEnrichmentCYP24A1, SLC34A11.73
266Distal hereditary motor neuropathy type 7EnrichmentDCTN1, SLC5A71.73
267Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A21.73
268Bilateral breast cancerEnrichmentBRCA1, BRCA21.73
269Chronic eosinophilic leukemiaEnrichmentFIP1L1, PDGFRA1.73
270CaddsEnrichmentABCD1, BCAP311.73
271AngioedemaEnrichmentF12, SERPING11.73
272X-linked cone dysfunction syndrome with myopiaEnrichmentOPN1LW, OPN1MW1.73
273Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD881.73
274Pleomorphic rhabdomyosarcomaEnrichmentNF1, TP531.73
275Oculootodental syndromeEnrichmentFADD, FGF31.73
276Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM1, VCP1.73
277Neuroendocrine tumor of pancreasEnrichmentBRCA2, PALB21.73
278Hydrops fetalis, nonimmuneEnrichmentCTSA, FZD6, GUSB, HBA1, HBA2, HRAS, NEU1, PTPN111.72
279Non-immune hydrops fetalisEnrichmentCTSA, FZD6, GUSB, HBA2, HRAS, KRAS, NEU1, PTPN11, THSD11.71
280Amyloidosis, hereditary systemic 2EnrichmentAPOA1, B2M, FGA1.69
281Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP51.69
282Bernard-soulier syndromeEnrichmentGP1BA, GP1BB, GP91.69
283Muscular dystrophy-dystroglycanopathy , type a, 1EnrichmentB4GAT1, POMT1, POMT21.69
284Rhabdomyosarcoma 2EnrichmentFOXO1, NF1, TP531.69
285Breast-ovarian cancer, familial 2EnrichmentBRCA1, BRCA2, PMS21.69
286Acute myeloid leukemia with maturationEnrichmentFLT3, KIT, NPM11.69
287Myeloproliferative neoplasmEnrichmentCBL, DNMT3A, JAK21.69
288GlioblastomaEnrichmentATM, DNMT3A, MSH21.69
289HemangiomaEnrichmentPTEN, RNF213, RPL51.69
290HypoglycemiaEnrichmentABCC8, G6PC1, KCNJ111.69
291Coloboma of choroid and retinaEnrichmentABCB6, ACTG1, FZD51.69
292Congenital muscular dystrophy with intellectual disabilityEnrichmentLARGE1, POMT1, POMT21.69
293Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT, RUNX11.69
294Nk-cell enteropathyEnrichmentCUL3, ERBB4, IGF1R, JAK3, PIK3CB1.63
295Coronary heart disease 5EnrichmentABCA1, ABCG5, ABCG8, IKBKG1.61
296Arteriovenous malformationEnrichmentCCNH, HRAS, MAP2K1, PIK3CA1.61
297Progressive non-fluent aphasiaEnrichmentCHMP2B, PSEN1, TBK1, VCP1.61
298Junctional epidermolysis bullosaEnrichmentGALK1, LAMA3, LAMB3, LAMC21.61
299Behavioral variant of frontotemporal dementiaEnrichmentCHMP2B, PSEN1, SQSTM1, VCP1.61
300Inflammatory bowel disease 1EnrichmentERCC2, IL6, NOD21.58
301Alpha-thalassemiaEnrichmentHBA1, HBA2, HBB1.58
302Hypotrichosis simplexEnrichmentERCC2, RPL21, SNRPE1.58
303Hydrocephalus, congenital, 1EnrichmentATP1A3, CDK8, MED12, TUBB1.54
304MalariaEnrichmentCD36, FCGR2A, HBB, IKBKG, NOS2, SLC4A1, TIRAP1.53
305Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A21.50
306Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A41.50
307Budd-chiari syndromeEnrichmentCALR, JAK21.50
308Au-kline syndromeEnrichmentHNRNPK, VHL1.50
309Erythrocytosis, familial, 7EnrichmentHBA1, HBA21.50
310Hemoglobin h diseaseEnrichmentHBA1, HBA21.50
311Hepatitis bEnrichmentIFNAR2, IFNGR11.50
312Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A41.50
313Gingival fibromatosisEnrichmentREST, SOS11.50
314Familial infantile bilateral striatal necrosisEnrichmentNUP54, NUP621.50
315Syndromic intellectual disabilityEnrichmentBRD4, MED16, SYT1, TAF61.45
316Autoinflammatory diseaseEnrichmentAP3B1, MEFV, NLRP12, NLRP3, NOD2, PRF1, SLC7A71.44
317Myopathy, x-linked, with excessive autophagyEnrichmentCCNH, HRAS, MAP2K1, PIK3CA1.44
318NephrocalcinosisEnrichmentRNF213, SLC12A1, SLC34A1, SLC3A11.44
319MelanomaEnrichmentBRAF, CDKN2A, DNMT3A, PTEN1.44
320Familial colorectal cancerEnrichmentMLH1, MSH2, MUTYH, TP531.44
321Muscle eye brain diseaseEnrichmentLARGE1, POMGNT1, POMT1, POMT21.44
322Primary bone dysplasiaEnrichmentCOL1A1, COL1A2, FGFR3, GALNS1.44
323Klippel-trenaunay-weber syndromeEnrichmentAGGF1, CCNH, PIK3CA1.43
324Li-fraumeni syndromeEnrichmentCDKN2A, MDM2, TP531.43
325Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A2, SEC24D1.43
326Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN1.43
327Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyEnrichmentCYP11A1, CYP17A1, CYP21A21.43
328Hyperinsulinemic hypoglycemia, familial, 1EnrichmentABCC8, GCK, KCNJ111.43
329Testicular germ cell tumorEnrichmentFGFR3, KIT, KITLG1.43
330KeratoconusEnrichmentCOL1A1, COL4A1, COL5A21.43
331PancytopeniaEnrichmentRPL17, RUNX1, TCN21.43
332Patent ductus arteriosusEnrichmentABCC9, PSMC3, PTPN111.43
333HypertrichosisEnrichmentCREBBP, KCNJ11, NAGLU1.43
334Nonsyndromic genetic hyperinsulinismEnrichmentABCC8, GCK, KCNJ111.43
335Congenital muscular dystrophy with cerebellar involvementEnrichmentPOMGNT1, POMT1, POMT21.43
33621-hydroxylase-deficient congenital adrenal hyperplasiaEnrichmentCYP11A1, CYP17A1, CYP21A21.43
337Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN1, LAMA5, LAMB2, NUP931.37
338Renal cell carcinoma, nonpapillaryEnrichmentATM, MET, MTOR, OGG1, VHL1.36
339Wilms tumor 1EnrichmentBRAF, BRCA2, GPC3, REST, TRIM281.36
340Anterior segment dysgenesisEnrichmentADAMTS17, COL4A1, CYP1B1, ITPR1, RBP41.36
341Rare genetic intellectual disabilityEnrichmentALG13, CREBBP, DNMT3A, EP300, MTOR1.36
342Specific learning disabilityEnrichmentMAPK1, PTPN11, YWHAG1.34
343Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP2, TRAF61.30
344Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL31.30
345ThalassemiaEnrichmentHBA2, HBB1.30
346Aggressive systemic mastocytosisEnrichmentCBL, RUNX11.30
347Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC31.30
348Endometrial stromal sarcomaEnrichmentSUZ12, YWHAE1.30
349Familial porencephalyEnrichmentCOL4A1, COL4A21.30
350Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentADA, JAK31.29
351Crouzon syndromeEnrichmentFGFR2, FGFR31.29
352Desmoid disease, hereditaryEnrichmentAPC, CTNNB11.29
353Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB3, STAT31.29
354Prognathism, mandibularEnrichmentCSNK2B, ERLEC11.29
355Larsen syndromeEnrichmentCHST3, FGFR31.29
356Angioedema, hereditary, 1EnrichmentF12, SERPING11.29
357Ataxia-telangiectasiaEnrichmentATM, BRAF1.29
358Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB31.29
359Glycogen storage disease ivEnrichmentGAA, GBE11.29
360Factor x deficiencyEnrichmentF10, F111.29
361Homocystinuria-megaloblastic anemia, cblg typeEnrichmentMTR, MTRR1.29
362Nijmegen breakage syndromeEnrichmentGCK, NBN1.29
363Hyperbilirubinemia, rotor typeEnrichmentSLCO1B1, SLCO1B31.29
364Sengers syndromeEnrichmentAGK, TKFC1.29
365Polycythemia veraEnrichmentATM, JAK21.29
366Pompe disease, infantile-onsetEnrichmentGAA, PIK3CA1.29
367Methylmalonic aciduria due to methylmalonyl-coa mutase deficiencyEnrichmentMMACHC, MMUT1.29
368Mucopolysaccharidosis, type viEnrichmentARSB, GUSB1.29
369Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentCYP27B1, CYP2R11.29
370Glomerulopathy with fibronectin deposits 2EnrichmentATIC, FN11.29
371Nuchal bleb, familialEnrichmentCFTR, SOS11.29
372Osteogenic sarcomaEnrichmentRB1, TP531.29
373Osteoporosis, juvenileEnrichmentDKK1, WNT3A1.29
374Alzheimer disease 4EnrichmentPSEN1, PSEN21.29
375Nasopharyngeal carcinomaEnrichmentNFKBIA, TP531.29
376Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R11.29
377Chromosome 8p11 myeloproliferative syndromeEnrichmentBCR, FGFR11.29
378Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF1, RNF1351.29
379Sitosterolemia 1EnrichmentABCG5, ABCG81.29
380Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R11.29
381Hypoalphalipoproteinemia, primary, 2EnrichmentABCA1, APOA11.29
382Tethered spinal cord syndromeEnrichmentBRAF, CREBBP1.29
383Large congenital melanocytic nevusEnrichmentHRAS, NRAS1.29
384Desmoid tumorEnrichmentAPC, CTNNB11.29
385SitosterolemiaEnrichmentABCG5, ABCG81.29
386Dedifferentiated liposarcomaEnrichmentCDK4, MDM21.29
387Congenital muscular dystrophy-dystroglycanopathy type aEnrichmentPOMGNT1, POMT21.29
388HamartomaEnrichmentFGFR3, TSC21.29
389Atypical teratoid rhabdoid tumorEnrichmentATRX, TP531.29
390Testicular germ cell cancerEnrichmentFGFR3, KIT1.29
391Anaplastic astrocytomaEnrichmentATRX, TP531.29
392Immunodeficiency 14EnrichmentPIK3CD, PIK3R11.29
393Squamous cell carcinomaEnrichmentRB1, TP531.29
394AdenocarcinomaEnrichmentATM, TP531.29
395Migraine without auraEnrichmentESR1, NOTCH31.29
396Hereditary site-specific ovarian cancer syndromeEnrichmentRAD51C, RAD51D1.29
397Bone osteosarcomaEnrichmentRB1, TP531.29
398Mucopolysaccharidosis-plus syndromeEnrichmentIDUA, VPS33A1.29
399SpermatocytomaEnrichmentFGFR3, HRAS1.29
400High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A21.29
401Colon adenocarcinomaEnrichmentAPC, MSH61.29
402HomocystinuriaEnrichmentMMACHC, MTR1.29
403Well-differentiated liposarcomaEnrichmentCDK4, MDM21.29
404Dend syndromeEnrichmentABCC8, KCNJ111.29
405Congenital factor x deficiencyEnrichmentF10, F111.29
406Familial colorectal cancer type xEnrichmentATM, BRCA2, MUTYH, RPS201.29
407Primary ovarian insufficiencyEnrichmentADAMTS1, ADAMTS6, CYP17A1, CYP19A1, GALT, JAK2, KDR, NBN, NOTCH2, PMM2, RAD51C, RICTOR, THBS11.28
408EpicanthusEnrichmentATP1A3, PTPN11, RPL171.24
409Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A2, PPIB1.24
410Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP531.24
411Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentNUS1, TUBA1A, TUBB2B1.24
412Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ1.24
413Progressive familial intrahepatic cholestasisEnrichmentABCB11, ABCB4, GLB11.24
414Essential thrombocythemiaEnrichmentCALR, JAK2, TP531.24
415Isolated methylmalonic acidemiaEnrichmentMMAA, MMAB, MMUT1.24
416Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP, PSEN1, PSEN21.24
417Cystic fibrosisEnrichmentCFTR, FCGR2A, GCLC, HMOX1, MBL2, SLC6A14, STX1A, TGFB11.21
418Skin diseaseEnrichmentABCA12, CLCN6, LAMB3, LAMC2, NCSTN, NF11.16
419MeningiomaEnrichmentAKT1, PDGFB, PIK3CA, PTEN1.16
420Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3001.15
421Pierre robin syndromeEnrichmentMED13L, SNRPB1.15
422Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3001.15
423Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK1, TGFB11.15
424Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A21.15
425Inguinal herniaEnrichmentCOL5A1, RNF2131.15
426Interstitial lung disease 2EnrichmentABCA3, MUC5B, SFTPA1, SFTPA2, SFTPC1.15
427Dandy-walker syndromeEnrichmentBRAF, KMT2D, PDGFRB, PPP1CB, TUBA1A1.15
428Undetermined early-onset epileptic encephalopathyEnrichmentATP1A2, ATP1A3, CDK19, CLTC, CNKSR2, CYFIP2, DHDDS, FZR1, NTRK2, NUS1, TRAK1, YWHAG1.14
429Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR3, PTPN111.13
430Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA11.12
431Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.12
432Adenosine triphosphate, elevated, of erythrocytesEnrichmentPKLR1.12
433Proteus syndromeEnrichmentAKT11.12
434Tylosis with esophageal cancerEnrichmentRHBDF21.12
435Gnathodiaphyseal dysplasiaEnrichmentANO51.12
436Spondyloarthropathy 1EnrichmentHLA-B1.12
437MetachondromatosisEnrichmentPTPN111.12
438Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB1.12
439Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.12
440Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.12
4413mc syndrome 1EnrichmentMASP11.12
442Leprosy 3EnrichmentTLR21.12
443Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.12
444Calcification of joints and arteriesEnrichmentNT5E1.12
445Gapo syndromeEnrichmentANTXR11.12
446Hypoplastic left heart syndrome 1EnrichmentGJA11.12
447Granulomatous disease, chronic, autosomal recessive, 4EnrichmentCYBA1.12
448Keratitis-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentAP1B11.12
449Anemia, congenital, nonspherocytic hemolytic, 2EnrichmentPKLR1.12
450Ramon syndromeEnrichmentELMO21.12
451Baraitser-winter syndrome 1EnrichmentACTB1.12
452Congenital disorder of glycosylation, type iiaEnrichmentMGAT21.12
453Phosphoglycerate kinase 1 deficiencyEnrichmentPGK11.12
454Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF11.12
455Helicobacter pylori infectionEnrichmentIFNGR11.12
456Thrombocytopenia 1EnrichmentWAS1.12
457Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.12
458Intellectual developmental disorder, x-linked, syndromic 35EnrichmentRPL101.12
459Alport syndrome 1, x-linkedEnrichmentCOL4A51.12
460Spermatogenic failure, x-linked, 9EnrichmentRBBP71.12
461Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing lossEnrichmentATP1A31.12
462Incontinentia pigmentiEnrichmentIKBKG1.12
463Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S11.12
464Asplenia, isolated congenitalEnrichmentRPSA1.12
465Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X1.12
466Dystonia 3, torsion, x-linkedEnrichmentTAF11.12
467Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.12
468Immunodeficiency 35EnrichmentTYK21.12
469Immunodeficiency 61EnrichmentSH3KBP11.12
470Cinca syndromeEnrichmentNLRP31.12
471Scott syndromeEnrichmentANO61.12
472Noonan syndrome 4EnrichmentSOS11.12
473Pseudohypoparathyroidism, type icEnrichmentGNAS1.12
474Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.12
475Deafness, autosomal dominant 17EnrichmentMYH91.12
476Diamond-blackfan anemia 10EnrichmentRPS261.12
477Keratoendotheliitis fugax hereditariaEnrichmentNLRP31.12
478Carney complex, type 1EnrichmentPRKAR1A1.12
479Pyogenic sterile arthritis, pyoderma gangrenosum, and acneEnrichmentPSTPIP11.12
480Psoriasis 1EnrichmentHLA-C1.12
481Cataract 31, multiple typesEnrichmentCHMP4B1.12
482Craniolenticulosutural dysplasiaEnrichmentSEC23A1.12
483Intellectual developmental disorder, autosomal recessive 12EnrichmentST3GAL31.12
484Xeroderma pigmentosum, complementation group bEnrichmentERCC31.12
485Combined oxidative phosphorylation deficiency 4EnrichmentTUFM1.12
486Intellectual developmental disorder, autosomal recessive 7EnrichmentTUSC31.12
487Melorheostosis, isolatedEnrichmentMAP2K11.12
488Oculodentodigital dysplasiaEnrichmentGJA11.12
489Osseous heteroplasia, progressiveEnrichmentGNAS1.12
490Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.12
491Cardiomyopathy, dilated, 1jjEnrichmentLAMA41.12
492Hemolytic uremic syndrome, atypical 5EnrichmentC31.12
493Immunodeficiency 83 viral infectionsEnrichmentTLR31.12
494Leopard syndrome 1EnrichmentPTPN111.12
495Intellectual developmental disorder, autosomal recessive 18, with or without epilepsyEnrichmentMED231.12
496Familial cold autoinflammatory syndrome 1EnrichmentNLRP31.12
497Hypotrichosis 12EnrichmentRPL211.12
498Sting-associated vasculopathy, infantile-onsetEnrichmentSTING11.12
499Diamond-blackfan anemia 13EnrichmentRPS291.12
500Immunodeficiency 39 viral infectionsEnrichmentIRF71.12
501Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.12
502GlutathionuriaEnrichmentGGT11.12
503Pseudohypoaldosteronism, type iieEnrichmentCUL31.12
504Congenital disorder of glycosylation, type iw, autosomal recessiveEnrichmentSTT3A1.12
505Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityEnrichmentTAF21.12
506Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB1.12
507Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.12
508Glucocorticoid resistance, generalizedEnrichmentNR3C11.12
509Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.12
510Myopathy with lactic acidosis, hereditaryEnrichmentISCU1.12
511Gand syndromeEnrichmentGATAD2B1.12
512Immunodeficiency 38 with basal ganglia calcificationEnrichmentISG151.12
513Lissencephaly 5EnrichmentLAMB11.12
514Leprosy 5EnrichmentTLR11.12
515Griscelli syndrome, type 1EnrichmentMYO5A1.12
516Fetal encasement syndromeEnrichmentCHUK1.12
517Hyaline fibromatosis syndromeEnrichmentANTXR21.12
518Encephalopathy, acute, infection-induced 7EnrichmentIRF31.12
519Immunodeficiency 43EnrichmentB2M1.12
520Wiskott-aldrich syndrome 2EnrichmentWIPF11.12
521Immunodeficiency 20EnrichmentFCGR3A1.12
522Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.12
523Deafness, autosomal recessive 44EnrichmentADCY11.12
524Singleton-merten syndrome 1EnrichmentIFIH11.12
525Blau syndromeEnrichmentNOD21.12
526Whim syndrome 1EnrichmentCXCR41.12
527Candidiasis, familial, 6EnrichmentIL17F1.12
528Frontometaphyseal dysplasia 2EnrichmentMAP3K71.12
529Miyoshi muscular dystrophy 3EnrichmentANO51.12
530Pulmonary hypertension, primary, 3EnrichmentCAV11.12
531Cole-carpenter syndrome 2EnrichmentSEC24D1.12
532Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A1.12
533Diamond-blackfan anemia 7EnrichmentRPL111.12
534Retinitis pigmentosa 10EnrichmentIMPDH11.12
535Ventricular tachycardia, familialEnrichmentGNAI21.12
536Wilms tumor 6EnrichmentREST1.12
537Muckle-wells syndromeEnrichmentNLRP31.12
538Alternating hemiplegia of childhood 2EnrichmentATP1A31.12
539Pontocerebellar hypoplasia, type 8EnrichmentCHMP1A1.12
540Dystonia 24EnrichmentANO31.12
541Immunodeficiency 27aEnrichmentIFNGR11.12
542Diamond-blackfan anemia 18EnrichmentRPL181.12
543Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA11.12
544Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.12
545Fetal akinesia deformation sequence 4EnrichmentNUP881.12
546Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasiaEnrichmentMED271.12
547Neurodevelopmental disorder with cerebellar atrophy and motor dysfunctionEnrichmentGEMIN51.12
548Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC11.12
549Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3EnrichmentHNRNPA11.12
550Spondyloepimetaphyseal dysplasia, isidor-toutain typeEnrichmentRPL131.12
551Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.12
552Immunodeficiency 15bEnrichmentIKBKB1.12
553Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic faciesEnrichmentATP1A21.12
554Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.12
555Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemiaEnrichmentPSTPIP11.12
556Spermatogenic failure 63EnrichmentRPL10L1.12
557Atrial fibrillation, familial, 15EnrichmentNUP1551.12
558Pseudo-torch syndrome 3EnrichmentSTAT21.12
559Noonan syndrome 13EnrichmentMAPK11.12
560Immunodeficiency 106 viral infectionsEnrichmentIFNAR11.12
561Deafness, autosomal dominant 34, with or without inflammationEnrichmentNLRP31.12
562Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.12
563Nephrotic syndrome, type 26EnrichmentLAMA51.12
564Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.12
565Developmental and epileptic encephalopathy 117EnrichmentSNAP251.12
566Impdh2 enzyme activity, variation inEnrichmentIMPDH21.12
567Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.12
568Oocyte/zygote/embryo maturation arrest 17EnrichmentKPNA71.12
569Autism x-linked 5EnrichmentRPL101.12
570Developmental and epileptic encephalopathy 99EnrichmentATP1A31.12
571Impaired intellectual development and distinctive facial features with or without cardiac defectsEnrichmentMED13L1.12
572Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP541.12
573Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.12
574Deafness, x-linked 6EnrichmentCOL4A61.12
575Immunodeficiency 15aEnrichmentIKBKB1.12
576Cornelia de lange syndrome 6EnrichmentBRD41.12
577Nephrotic syndrome, type 19EnrichmentNUP1601.12
578Pituitary adenoma 3, multiple typesEnrichmentGNAS1.12
579Immunodeficiency 95EnrichmentIFIH11.12
580Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.12
581Knobloch syndrome 2EnrichmentPAK21.12
582Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A1.12
583Diamond-blackfan anemia 20EnrichmentRPS15A1.12
584Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK21.12
585Keipert syndromeEnrichmentGPC41.12
586Moyamoya disease 7EnrichmentANO11.12
587Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR71.12
588Autoimmune disease, multisystem, infantile-onset, 4EnrichmentPDCD11.12
589Baker-gordon syndromeEnrichmentSYT11.12
590Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.12
591Orofacial cleft 10EnrichmentSUMO11.12
592Spinocerebellar ataxia, autosomal recessive 10EnrichmentANO101.12
593Stankiewicz-isidor syndromeEnrichmentPSMD121.12
594Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.12
595Okt4 epitope deficiencyEnrichmentCD41.12
596Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.12
597Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B1.12
598Immunodeficiency, developmental delay, and hypohomocysteinemiaEnrichmentNFE2L21.12
599Charcot-marie-tooth disease type 2bEnrichmentRAB7A1.12
600Autosomal recessive limb-girdle muscular dystrophy type 2lEnrichmentANO51.12
601Vascular malformation, primary intraosseousEnrichmentELMO21.12
602Osteofibrous dysplasiaEnrichmentMET1.12
603Congenital disorder of glycosylation, type iccEnrichmentMAGT11.12
604Graft-versus-host diseaseEnrichmentIL101.12
605X-linked immunodeficiency 74EnrichmentTLR71.12
606Galloway-mowat syndrome 8EnrichmentNUP1331.12
607PorencephalyEnrichmentCOL4A11.12
608Immunodeficiency 132aEnrichmentTRAF31.12
609Xeroderma pigmentosum, complementation group dEnrichmentERCC21.12
610Isolated growth hormone deficiency type iiiEnrichmentBTK1.12
611Imagawa-matsumoto syndromeEnrichmentSUZ121.12
612Deafness, dystonia, and cerebral hypomyelinationEnrichmentBCAP311.12
613Type 1 diabetes mellitus 19EnrichmentIFIH11.12
614Immunodeficiency 132bEnrichmentTRAF31.12
615Systemic lupus erythematosus 17EnrichmentTLR71.12
616Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.12
617Diamond-blackfan anemia 3EnrichmentRPS241.12
618Cardioacrofacial dysplasia 2EnrichmentPRKACB1.12
619Nephrotic syndrome, type 13EnrichmentNUP2051.12
620Dialysis-related amyloidosisEnrichmentB2M1.12
621Trichothiodystrophy 6, nonphotosensitiveEnrichmentGTF2E21.12
622Sting-associated vasculopathy with onset in infancyEnrichmentSTING11.12
623Diamond-blackfan anemia 8EnrichmentRPS71.12
624Immunodeficiency 39EnrichmentIRF71.12
625Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.12
626Ankylosing spondylitis 1EnrichmentHLA-B1.12
627Myxoma, intracardiacEnrichmentPRKAR1A1.12
628Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA11.12
629Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.12
630Lipodystrophy, familial partial, type 7EnrichmentCAV11.12
631Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.12
632Spinocerebellar ataxia 26EnrichmentEEF21.12
633Usmani-riazuddin syndrome, autosomal recessiveEnrichmentAP1G11.12
634Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.12
635Deafness, autosomal recessive 97EnrichmentMET1.12
636Temporal lobe epilepsyEnrichmentANO41.12
637Microvascular complications of diabetes 1EnrichmentVEGFA1.12
638Immunodeficiency 25EnrichmentCD2471.12
639Deafness, autosomal dominant 83EnrichmentMAP1B1.12
640Muscular dystrophy, limb-girdle, autosomal recessive 12EnrichmentANO51.12
641Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.12
642Immunodeficiency 27bEnrichmentIFNGR11.12
643Familial cold autoinflammatory syndrome 2EnrichmentNLRP121.12
644Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominantEnrichmentSYT21.12
645Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.12
646Intestinal dysmotility syndromeEnrichmentANO11.12
647Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.12
648Immunodeficiency 40EnrichmentDOCK21.12
649Systemic lupus erythematosus 2EnrichmentPDCD11.12
650Xeroderma pigmentosum group bEnrichmentERCC31.12
651Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalitiesEnrichmentGEMIN41.12
652Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.12
653Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.12
654Becker nevus syndromeEnrichmentACTB1.12
655Celiac disease 4EnrichmentMYO9B1.12
656Birdshot chorioretinopathyEnrichmentHLA-A1.12
657Myopathy, distal, 3EnrichmentHNRNPA11.12
658Galloway-mowat syndrome 7EnrichmentNUP1071.12
659Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH1.12
660MelorheostosisEnrichmentMAP2K11.12
661Dystonia-deafness syndrome 1EnrichmentACTB1.12
662Autism 9EnrichmentMET1.12
663Leber congenital amaurosis 11EnrichmentIMPDH11.12
664Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.12
665Deafness, autosomal dominant 27EnrichmentREST1.12
666Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.12
667Diamond-blackfan anemia 4EnrichmentRPS171.12
668Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.12
669Cortical malformations, occipitalEnrichmentLAMC31.12
670Immunodeficiency 31aEnrichmentSTAT11.12
671Diamond-blackfan anemia 11EnrichmentRPL261.12
672Congenital disorder of glycosylation, type irEnrichmentDDOST1.12
673Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.12
674Psoriasis 15, pustularEnrichmentAP1S31.12
675Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.12
676Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.12
677Masp2 deficiencyEnrichmentMASP21.12
678Spastic paraplegia 53, autosomal recessiveEnrichmentVPS37A1.12
679Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizuresEnrichmentPHF21A1.12
680Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP21.12
681Long qt syndrome 16EnrichmentCALM31.12
682Cowden syndrome 6EnrichmentAKT11.12
683Nestor-guillermo progeria syndromeEnrichmentBANF11.12
684Developmental and epileptic encephalopathy 115EnrichmentSNF81.12
685Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.12
686Nephrotic syndrome, type 12EnrichmentNUP931.12
687Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.12
688Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.12
689Dengue virusEnrichmentCD2091.12
690Mannose-binding lectin deficiencyEnrichmentMBL21.12
691Spermatogenic failure 13EnrichmentTAF4B1.12
692Amyotrophic lateral sclerosis 20EnrichmentHNRNPA11.12
693Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.12
694Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.12
695Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP251.12
696Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.12
697Candidiasis, familial, 9EnrichmentIL17RC1.12
698Lynch syndrome 8EnrichmentEPCAM1.12
699Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.12
700Immunodeficiency 96EnrichmentLIG11.12
701Macular degeneration, age-related, 9EnrichmentC31.12
702Macular degeneration, age-related, 10EnrichmentTLR41.12
703Immunodeficiency 31bEnrichmentSTAT11.12
704Autoinflammation with arthritis and vasculitisEnrichmentTBK11.12
705Type 1 diabetes mellitus 22EnrichmentCCR51.12
706Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.12
707Disorders of gnas inactivationEnrichmentGNAS1.12
708Complement component 3 deficiency, autosomal recessiveEnrichmentC31.12
709Alazami-yuan syndromeEnrichmentTAF61.12
710Basel-vanagaite-smirin-yosef syndromeEnrichmentMED251.12
711Macular degeneration, age-related, 12EnrichmentCX3CR11.12
712Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.12
713Leukodystrophy, hypomyelinating, 12EnrichmentVPS111.12
714Fibromatosis, gingival, 5EnrichmentREST1.12
715Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.12
716Nephrotic syndrome, type 11EnrichmentNUP1071.12
717Spondyloepimetaphyseal dysplasiaEnrichmentRPL131.12
718Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.12
719Heme oxygenase 1 deficiencyEnrichmentHMOX11.12
720Neutropenia, severe congenital, 5, autosomal recessiveEnrichmentVPS451.12
721Reactive arthritisEnrichmentHLA-B1.12
722Triokinase and fmn cyclase deficiency syndromeEnrichmentTKFC1.12
723Dync1h1-related disordersEnrichmentDYNC1H11.12
724Immunodeficiency 22EnrichmentLCK1.12
725PsoriasisEnrichmentIL17RA1.12
726Cardioacrofacial dysplasia 1EnrichmentPRKACA1.12
727Diamond-blackfan anemia 19EnrichmentRPL351.12
728Spastic paraplegia 80, autosomal dominantEnrichmentUBAP11.12
729Neurodevelopmental disorder with or without autism or seizuresEnrichmentCUL31.12
730Thrombocytopenia 6EnrichmentSRC1.12
731Cohen-gibson syndromeEnrichmentEED1.12
732Singleton-merten syndrome 2EnrichmentRIGI1.12
733Encephalopathy, acute, infection-induced 9EnrichmentNUP2141.12
734Was-related disordersEnrichmentWAS1.12
735Usmani-riazuddin syndrome, autosomal dominantEnrichmentAP1G11.12
736Intellectual developmental disorder, autosomal recessive 60EnrichmentTAF131.12
737Developmental and epileptic encephalopathy 98EnrichmentATP1A21.12
738Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA11.12
739Takenouchi-kosaki syndromeEnrichmentCDC421.12
740Sandestig-stefanova syndromeEnrichmentNUP1881.12
741Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.12
742Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.12
743Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.12
744Corticobasal syndromeEnrichmentTBK11.12
745Ovarian dysgenesis 6EnrichmentNUP1071.12
746Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.12
747Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.12
748Bartsocas-papas syndrome 2EnrichmentCHUK1.12
749Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalitiesEnrichmentMED111.12
750Sick sinus syndrome 4EnrichmentGNB21.12
751Finnish upper limb-onset distal myopathyEnrichmentHNRNPA11.12
752Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.12
753Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR1.12
754Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.12
755Dystonia 33EnrichmentEIF2AK21.12
756Intellectual developmental disorder with hypertelorism and distinctive faciesEnrichmentCCNK1.12
757Menke-hennekam syndrome 1EnrichmentCREBBP1.12
758Nephrotic syndrome, type 18EnrichmentNUP1331.12
759Periventricular nodular heterotopia 7EnrichmentNEDD4L1.12
760Immunodeficiency 79EnrichmentCD41.12
761Guillouet-gordon syndromeEnrichmentMED161.12
762Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I21.12
763Brachycephaly, trichomegaly, and developmental delayEnrichmentRPS231.12
764Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.12
765Cardiomyopathy, dilated, 2dEnrichmentRPL3L1.12
766Encephalopathy, acute, infection-induced 8EnrichmentTBK11.12
767Multisystem proteinopathyEnrichmentVCP1.12
768Neurodevelopmental disorder with dysmorphic facies and thin corpus callosumEnrichmentSUPT16H1.12
769Bent bone dysplasia syndrome 2EnrichmentLAMA51.12
770Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B1.12
771Sickle cell-beta-thalassemia disease syndromeEnrichmentHBB1.12
772Amyloidosis, hereditary systemic 6EnrichmentB2M1.12
773Trilateral retinoblastomaEnrichmentRB11.12
774Myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessiveEnrichmentSYT21.12
775Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.12
776Primary intraosseous venous malformationEnrichmentELMO21.12
777Aicardi-goutieres syndrome 7EnrichmentIFIH11.12
778Cholestasis, progressive familial intrahepatic, 12EnrichmentVPS33B1.12
779Complement component 3 deficiencyEnrichmentC31.12
780T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.12
781Spastic paraplegia 88, autosomal dominantEnrichmentKPNA31.12
782Generalized epilepsy with febrile seizures plus, type 9EnrichmentSTX1B1.12
783Adenoid ameloblastomaEnrichmentCTNNB11.12
784Arthrogryposis, distal, type 11EnrichmentMET1.12
785Long qt syndrome 15EnrichmentCALM21.12
786Baraitser-winter syndromeEnrichmentACTB1.12
787Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.12
788Developmental and epileptic encephalopathy 113EnrichmentSV2A1.12
789Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK1.12
790Heritable thoracic aortic diseaseEnrichmentSMAD41.12
791Col4a1-related disordersEnrichmentCOL4A11.12
792Congenital myopathy 26EnrichmentTUBA4A1.12
793Occipital pachygyria and polymicrogyriaEnrichmentLAMC31.12
794Congenital disorder of glycosylation iwEnrichmentSTT3A1.12
795Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.12
796Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.12
797Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.12
798Neurodevelopmental disorder plus optic atrophyEnrichmentSNF81.12
799Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.12
800Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.12
801Congenital myasthenic syndrome 7EnrichmentSYT21.12
802Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH1.12
803Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.12
804Capillary hemangiomaEnrichmentAKT31.12
805Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.12
806ColitisEnrichmentSYK1.12
807Atp1a3-related disorderEnrichmentATP1A31.12
808Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.12
809Catechol-o-methyltransferase activity, variation inEnrichmentCOMT1.12
810Hemoglobin c-beta-thalassemia syndromeEnrichmentHBB1.12
811X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeEnrichmentRPL101.12
812X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF11.12
813Relapsing-remitting multiple sclerosisEnrichmentHNRNPA11.12
814Oculogyric crisisEnrichmentATP1A31.12
815Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.12
816Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.12
817Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.12
818Membranoproliferative glomerulonephritisEnrichmentC31.12
819Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.12
820Primary membranoproliferative glomerulonephritisEnrichmentC31.12
821Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.12
822Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A11.12
823Wilms tumor 7EnrichmentTRIM281.12
824Vegetative pyoderma gangrenosumEnrichmentPTPN61.12
825Bullous pyoderma gangrenosumEnrichmentPTPN61.12
826Severe congenital neutropenia 5EnrichmentVPS451.12
827HemiplegiaEnrichmentATP1A31.12
828Sickle cell s-o arab diseaseEnrichmentHBB1.12
829Pure red-cell aplasiaEnrichmentRPS261.12
830Congenital smooth muscle hamartomaEnrichmentACTB1.12
831Agammaglobulinemia 3EnrichmentCD79A1.12
832Sickle cell-beta zero-thalassemiaEnrichmentHBB1.12
833X-linked alport syndromeEnrichmentCOL4A51.12
834PneumothoraxEnrichmentCOL5A11.12
835Pustular pyoderma gangrenosumEnrichmentPTPN61.12
836Nocarh syndromeEnrichmentCDC421.12
837Xeroderma pigmentosum group dEnrichmentERCC21.12
838Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.12
839Inherited metabolic disorderEnrichmentTKFC1.12
840Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.12
841Pulmonary arterial hypertension associated with connective tissue diseaseEnrichmentHLA-B1.12
842Menke-hennekam syndromeEnrichmentCREBBP1.12
843Cryopyrin associated periodic syndromeEnrichmentNLRP31.12
844Diamond-blackfan anemia 22EnrichmentRPL171.12
845Infection-induced acute-onset axonal neuropathyEnrichmentRCC11.12
846Immunodeficiency due to masp-2 deficiencyEnrichmentMASP21.12
847Familial amyloid nephropathy with urticaria and deafnessEnrichmentNLRP31.12
848Monostotic fibrous dysplasiaEnrichmentGNAS1.12
849Familial acute necrotizing encephalopathyEnrichmentRANBP21.12
850X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeEnrichmentRPL101.12
851Sickle cell s-d punjab diseaseEnrichmentHBB1.12
852Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR21.12
853Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.12
854Classic pyoderma gangrenosumEnrichmentPTPN61.12
855Sickle cell s-c diseaseEnrichmentHBB1.12
856Male infertility due to obstructive azoospermiaEnrichmentPGK11.12
857Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndromeEnrichmentANO51.12
858St3gal3-cdgEnrichmentST3GAL31.12
859Lama5-related multisystemic syndromeEnrichmentLAMA51.12
860Mazabraud syndromeEnrichmentGNAS1.12
861Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.12
862Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.12
863Microcystic stromal tumorEnrichmentCTNNB11.12
864Sickle cell s-e diseaseEnrichmentHBB1.12
865Temporomandibular joint anomalyEnrichmentDOCK11.12
866Man1b1-congenital disorder of glycosylationEnrichmentMAN1B11.12
867Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromeEnrichmentKPNA71.12
868Polyvalvular heart disease syndromeEnrichmentTAB21.12
869Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA21.12
870Akt2-related familial partial lipodystrophyEnrichmentAKT21.12
871Malignant astrocytomaEnrichmentPTPN111.12
872Retinal hemangioblastomaEnrichmentVHL1.12
873Homozygous hemoglobin o arab diseaseEnrichmentHBB1.12
874Sickle cell s-other specified hemoglobin variantEnrichmentHBB1.12
875Lung oat cell carcinomaEnrichmentRB11.12
876Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, BCR, CDKN2A, FLT3, MYC, NUP2141.08
877Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB, SLC20A21.08
878Isolated growth hormone deficiency, type iaEnrichmentBRCA2, DNA2, XRCC41.08
879Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP51.08
880Multiple sclerosisEnrichmentITPR1, LAMA5, LAMB11.07
881Periventricular nodular heterotopiaEnrichmentARF1, MAP1B, NEDD4L1.07
882Congenital myasthenic syndromeEnrichmentAGRN, SYT2, VAMP11.07
883Complex neurodevelopmental disorderEnrichmentAP1G1, CDK8, CSNK2A1, CUL3, GNB2, H4C3, H4C5, H4C9, MED13, MED27, PALS1, PSMD12, TAF4, WASF11.05
884Hirschsprung disease 1EnrichmentABCD1, ERBB2, ERBB3, IHH, NRG3, NUP98, POLR2F1.04
885Retinitis pigmentosa 91EnrichmentABCA4, MMACHC1.03
886Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A21.03
887Small cell cancer of the lungEnrichmentRB1, TP531.03
888CystinuriaEnrichmentSLC3A1, SLC7A91.03
889Myoclonic epilepsy of lafora 1EnrichmentEPM2A, NHLRC11.03
890PhenylketonuriaEnrichmentCOL1A1, PAH1.03
891ChordomaEnrichmentBRCA2, PALB21.03
892Renal glucosuriaEnrichmentSLC5A1, SLC5A21.03
893SchizencephalyEnrichmentCOL4A1, SHH1.03
894Hemophilia aEnrichmentF8, F91.03
895Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP531.03
896Methylmalonic aciduria and homocystinuria, cbld typeEnrichmentMMACHC, MMADHC1.03
897Neural tube defects, folate-sensitiveEnrichmentMTR, MTRR1.03
898Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA1, BRCA21.03
899Microtia-anotiaEnrichmentKMT2D, LMNA1.03
900Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF11.03
901Potocki-shaffer syndromeEnrichmentEXT2, PHF21A1.03
902Hypoalphalipoproteinemia, primary, 1EnrichmentABCA1, APOA11.03
903Chromosome 22q11.2 deletion syndrome, distalEnrichmentBCR, MAPK11.03
904Focal cortical dysplasia, type iiEnrichmentMTOR, TSC21.03
905Immunodeficiency, common variable, 1EnrichmentICOS, NFKB21.03
906PilomatrixomaEnrichmentCTNNB1, MUTYH1.03
907Factor viii deficiencyEnrichmentF8, F91.03
908CholangiocarcinomaEnrichmentBRCA1, BRCA21.03
909Aminoacylase 1 deficiencyEnrichmentACTB, ACY11.03
910Mantle cell lymphomaEnrichmentATM, CCND11.03
911Neonatal diabetes mellitusEnrichmentABCC8, KCNJ111.03
912Intrahepatic cholestasis of pregnancyEnrichmentABCB11, ABCB41.03
913Lung sarcomatoid carcinomaEnrichmentKRAS, TP531.03
914Weill-marchesani syndromeEnrichmentADAMTS10, ADAMTS171.03
915Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD501.03
916Chronic myelomonocytic leukemiaEnrichmentETV6, FLT31.03
917Retinopathy of prematurityEnrichmentFZD4, LRP51.03
918Aortic aneurysmEnrichmentSMAD3, TGFBR11.03
919Pilocytic astrocytomaEnrichmentKRAS, NF11.03
920Blood platelet diseaseEnrichmentCD36, RUNX11.03
921Newborn respiratory distress syndromeEnrichmentABCC8, BRAF1.03
922Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT1.03
923Adenosine deaminase deficiencyEnrichmentADA, JAK31.03
9242p21 microdeletion syndromeEnrichmentPPM1B, SLC3A11.03
925Eyelid colobomaEnrichmentABCB6, FZD51.03
926Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A21.03
927Non-syndromic bicoronal craniosynostosisEnrichmentFGFR3, TWIST11.03
928Isolated focal cortical dysplasia type iiEnrichmentMTOR, TSC21.03
929VitreoretinopathyEnrichmentABCA4, LRP51.03
930Lens colobomaEnrichmentABCB6, FZD51.03
931Beta-thalassemiaEnrichmentHBA2, HBB1.03
932Beta-thalassemia majorEnrichmentHBA2, HBB1.03
933Renal cell carcinoma with mit translocationsEnrichmentCLTC, SFPQ1.03
934Hereditary hemorrhagic telangiectasiaEnrichmentCCNH, SMAD41.03
935Common variable immunodeficiencyEnrichmentNFKB1, NFKB21.03
936Hemolytic anemiaEnrichmentHBB, PKLR1.03
937Moyamoya angiopathyEnrichmentABL1, RNF2131.03
938Fanconi anemia, complementation group aEnrichmentBRCA1, BRCA2, BRIP1, PALB2, RAD51, RAD51C, VHL, XRCC21.02
939Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, CUBN, CUL3, DNMT3A, DYNC1H1, EED, GNB1, HK1, MAP1B, MAP2K1, MCCC2, MECP2, MED13L, NF1, PTEN, PTPN11, RNF135, SLC3A1, TSC21.00
940Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS, NLRP30.97
941Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentLMNA, MED25, SLC5A7, TFG, VCP0.97
942OsteoporosisEnrichmentCOL1A1, COL1A2, LRP5, SRC0.95
943MedulloblastomaEnrichmentAPC, BRCA2, CTNNB1, WRN0.95
944Lipoid congenital adrenal hyperplasiaEnrichmentCYP11A1, CYP11B1, CYP17A1, CYP21A20.95
945Cornelia de lange syndrome 1EnrichmentBRD4, HDAC8, TAF60.95
946Leukemia, acute lymphoblastic 3EnrichmentJAK2, NF1, PALB20.95
947Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT3, MYO18A, RUNX10.95
948Bilateral perisylvian polymicrogyriaEnrichmentNUS1, TUBA1A, TUBB2B0.95
949Cornelia de lange syndromeEnrichmentBRD4, HDAC8, TAF60.95
950Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN0.95
951HypertensionEnrichmentCOL4A4, COL4A5, MYH90.93
952Isolated split hand-split foot malformationEnrichmentBTRC, SEM10.92
953DystoniaEnrichmentANO3, ATP1A3, GNB1, IMPDH2, MYO5A0.91
954Macs syndromeEnrichmentABCB6, PORCN, RBP4, SHH, STRA60.90
955Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, CLTC, CSNK2B, CUX1, DLL1, DYNC1H1, ERBB4, GNB1, YWHAZ0.87
956Carpal tunnel syndrome 1EnrichmentTTR0.87
957Holoprosencephaly 3EnrichmentSHH0.87
958Bernard-soulier syndrome, type a2, autosomal dominantEnrichmentGP1BA0.87
959Palmoplantar keratoderma, punctate type iiEnrichmentBRCA10.87
960Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB10.87
961Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecansEnrichmentACAN0.87
962Erythroleukemia, familialEnrichmentERBB30.87
963HypochondroplasiaEnrichmentFGFR30.87
964Chiari malformation type iEnrichmentDKK10.87
965MacrodactylyEnrichmentPIK3CA0.87
966Complement component 4, partial deficiency ofEnrichmentSERPING10.87
967Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR0.87
968Beare-stevenson cutis gyrata syndromeEnrichmentFGFR20.87
969Paget disease, extramammaryEnrichmentERBB20.87
970Diabetes insipidus, neurohypophysealEnrichmentAVP0.87
971Osteoglophonic dysplasiaEnrichmentFGFR10.87
972Perry syndromeEnrichmentDCTN10.87
973Neuronopathy, distal hereditary motor, autosomal dominant 7EnrichmentSLC5A70.87
974Endosteal hyperostosis, autosomal dominantEnrichmentLRP50.87
975Fetal hemoglobin quantitative trait locus 5EnrichmentBCL11A0.87
976Nail disorder, nonsyndromic congenital, 1EnrichmentFZD60.87
977Inclusion body myositisEnrichmentGNE0.87
978Paget disease of bone 3EnrichmentSQSTM10.87
979Skin/hair/eye pigmentation, variation in, 6EnrichmentSLC24A40.87
980Macular dystrophy, cornealEnrichmentCHST60.87
981Thanatophoric dysplasia, type iEnrichmentFGFR30.87
982ChondrosarcomaEnrichmentEXT10.87
983Acrodermatitis enteropathica, zinc-deficiency typeEnrichmentSLC39A40.87
984Diastrophic dysplasiaEnrichmentSLC26A20.87
985Overhydrated hereditary stomatocytosisEnrichmentRHAG0.87
98646,xy sex reversal 7EnrichmentDHH0.87
987Trigonocephaly 1EnrichmentFGFR10.87
988Sucrase-isomaltase deficiency, congenitalEnrichmentSI0.87
989Lactase deficiency, congenitalEnrichmentLCT0.87
990Hypouricemia, renal, 1EnrichmentSLC22A120.87
991Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A20.87
992Achondrogenesis, type iaEnrichmentTRIP110.87
993Bloom syndromeEnrichmentBLM0.87
994Glycoprotein storage diseaseEnrichmentGAA0.87
995Geleophysic dysplasia 1EnrichmentADAMTSL20.87
996Holocarboxylase synthetase deficiencyEnrichmentHLCS0.87
997Anemia, congenital, nonspherocytic hemolytic, 5EnrichmentHK10.87
998Von willebrand disease, type 1EnrichmentVWF0.87
999Methylmalonic aciduria and homocystinuria, cblf typeEnrichmentLMBRD10.87
1000Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC60.87
1001Neuraminidase deficiencyEnrichmentNEU10.87
1002Dicarboxylic aminoaciduriaEnrichmentSLC1A10.87
1003Oculoectodermal syndromeEnrichmentKRAS0.87
1004Muenke syndromeEnrichmentFGFR30.87
1005Van esch-o'driscoll syndromeEnrichmentPOLA10.87
1006Thrombophilia, x-linked, due to factor viii defectEnrichmentF80.87
1007Vacterl association with hydrocephalusEnrichmentPTEN0.87
1008Pulmonary alveolar microlithiasisEnrichmentSLC34A20.87
1009Pallister-killian syndromeEnrichmentARAF0.87
1010Rh-null, regulator typeEnrichmentRHAG0.87
1011Premature aging syndrome, penttinen typeEnrichmentPDGFRB0.87
1012Hyperinsulinemic hypoglycemia, familial, 2EnrichmentKCNJ110.87
1013Warfarin sensitivity, x-linkedEnrichmentF90.87
1014Glutathione synthetase deficiencyEnrichmentGSS0.87
1015Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA0.87
1016SialuriaEnrichmentGNE0.87
1017Congenital disorder of glycosylation, type ibEnrichmentMPI0.87
1018Lethal short-limb skeletal dysplasia, al gazali typeEnrichmentADAMTSL20.87
1019Thyroid dyshormonogenesis 1EnrichmentSLC5A50.87
1020Polyglucosan body neuropathy, adult formEnrichmentGBE10.87
1021Bone mineral density quantitative trait locus 1EnrichmentLRP50.87
1022Exudative vitreoretinopathy 4EnrichmentLRP50.87
1023Intellectual developmental disorder, x-linked, syndromic, christianson typeEnrichmentSLC9A60.87
1024Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF10.87
1025Spondylocostal dysostosis 3, autosomal recessiveEnrichmentLFNG0.87
1026Colorblindness, partial, deutan seriesEnrichmentOPN1MW0.87
1027Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR20.87
1028Immunodeficiency 50EnrichmentMSN0.87
1029Focal dermal hypoplasiaEnrichmentPORCN0.87
1030Nonarteritic anterior ischemic optic neuropathyEnrichmentGP1BA0.87
1031Legionnaire diseaseEnrichmentTLR50.87
1032Congenital disorder of glycosylation, type iimEnrichmentSLC35A20.87
1033Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR20.87
1034Deafness, autosomal recessive 26EnrichmentGAB10.87
1035Congenital disorder of glycosylation, type iicEnrichmentSLC35C10.87
1036Aica-ribosiduria due to atic deficiencyEnrichmentATIC0.87
1037Legius syndromeEnrichmentSPRED10.87
1038Noonan syndrome 5EnrichmentRAF10.87
1039Hypomagnesemia 4, renalEnrichmentEGF0.87
1040Atelosteogenesis, type iiEnrichmentSLC26A20.87
1041Seckel syndrome 2EnrichmentRBBP80.87
1042Immunodeficiency 68EnrichmentMYD880.87
1043Congenital disorder of glycosylation, type iidEnrichmentB4GALT10.87
1044Angioedema, hereditary, 3EnrichmentF120.87
1045Muscular dystrophy-dystroglycanopathy , type a, 6EnrichmentLARGE10.87
1046Caspase 8 deficiencyEnrichmentCASP80.87
1047Congenital disorder of glycosylation, type imEnrichmentDOLK0.87
1048Blood group, diego systemEnrichmentSLC4A10.87
1049Branchial cleft anomaliesEnrichmentKMT2D0.87
1050Coronary heart disease 7EnrichmentCD360.87
1051Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA0.87
1052Facial hypertrichosisEnrichmentMECP20.87
1053Spastic paraplegia 18b, autosomal recessiveEnrichmentERLIN20.87
1054Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC20.87
1055Melanoma, cutaneous malignant 3EnrichmentCDK40.87
1056Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF40.87
1057Fanconi anemia, complementation group jEnrichmentBRIP10.87
1058AceruloplasminemiaEnrichmentCP0.87
1059Deafness, autosomal recessive 39EnrichmentHGF0.87
1060Mastocytosis, cutaneousEnrichmentKIT0.87
1061Ovalocytosis, southeast asianEnrichmentSLC4A10.87
1062Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A10.87
1063Tubulointerstitial kidney disease, autosomal dominant 2EnrichmentMUC10.87
1064Prekallikrein deficiencyEnrichmentKLKB10.87
1065Al-gazali syndromeEnrichmentB3GALT60.87
1066Von willebrand disease, platelet-typeEnrichmentGP1BA0.87
1067Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR20.87
1068Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB10.87
1069Spastic paraplegia 42, autosomal dominantEnrichmentSLC33A10.87
1070Muscular dystrophy-dystroglycanopathy , type c, 15EnrichmentDPM30.87
1071Surfactant metabolism dysfunction, pulmonary, 2EnrichmentSFTPC0.87
1072Thiopurines, poor metabolism of, 1EnrichmentTPMT0.87
1073Macroglobulinemia, waldenstrom 1EnrichmentMYD880.87
1074Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiencyEnrichmentGGCX0.87
1075Megalencephaly, autosomal dominantEnrichmentPIK3CA0.87
1076Brachyolmia type 4 with mild epiphyseal and metaphyseal changesEnrichmentPAPSS20.87
1077Hypertrophic osteoarthropathy, primary, autosomal dominantEnrichmentSLCO2A10.87
1078Prothrombin deficiency, congenitalEnrichmentF20.87
1079Noonan syndrome 7EnrichmentBRAF0.87
1080Leopard syndrome 3EnrichmentBRAF0.87
1081Apert syndromeEnrichmentFGFR20.87
1082Hajdu-cheney syndromeEnrichmentNOTCH20.87
1083Neuroblastoma 3EnrichmentALK0.87
1084Alagille syndrome 2EnrichmentNOTCH20.87
1085Blood group--wright antigenEnrichmentSLC4A10.87
1086Microvascular complications of diabetes 6EnrichmentSOD20.87
1087Spherocytosis, type 4EnrichmentSLC4A10.87
1088Episodic ataxia, type 6EnrichmentSLC1A30.87
1089Dyschromatosis universalis hereditaria 3EnrichmentABCB60.87
1090Maturity-onset diabetes of the young, type 2EnrichmentGCK0.87
1091Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB0.87
1092Acne inversa, familial, 1EnrichmentNCSTN0.87
1093Bothnia retinal dystrophyEnrichmentRLBP10.87
1094Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG0.87
1095Glioma susceptibility 3EnrichmentBRCA20.87
1096Microphthalmia/coloboma 5EnrichmentSHH0.87
1097Amyloidosis, hereditary systemic 1EnrichmentTTR0.87
1098Cardiomyopathy, dilated, 1nnEnrichmentRAF10.87
1099Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND20.87
1100Ehlers-danlos syndrome, spondylodysplastic type, 1EnrichmentB4GALT70.87
1101Blood group, langereis systemEnrichmentABCB60.87
1102Lateral meningocele syndromeEnrichmentNOTCH30.87
1103Congenital myopathy 4b, autosomal recessiveEnrichmentTPM30.87
1104Multiple self-healing squamous epitheliomaEnrichmentTGFBR10.87
1105Cowden syndrome 5EnrichmentPIK3CA0.87
1106Von willebrand disease, type 2EnrichmentVWF0.87
1107Myasthenic syndrome, congenital, 14EnrichmentALG20.87
1108Seckel syndrome 1EnrichmentATR0.87
1109Muscular dystrophy-dystroglycanopathy , type a, 13EnrichmentB4GAT10.87
1110Epiphyseal dysplasia, multiple, 4EnrichmentSLC26A20.87
1111Myofibromatosis, infantile, 1EnrichmentPDGFRB0.87
1112Bacteremia 1EnrichmentTIRAP0.87
1113Microcephaly 12, primary, autosomal recessiveEnrichmentCDK60.87
1114Ghosal hematodiaphyseal dysplasiaEnrichmentTBXAS10.87
1115Glycogen storage disease icEnrichmentSLC37A40.87
1116Glycogen storage disease ibEnrichmentSLC37A40.87
1117Arterial calcification, generalized, of infancy, 2EnrichmentABCC60.87
1118Muscular dystrophy-dystroglycanopathy , type a, 9EnrichmentDAG10.87
1119Mirror movements 2EnrichmentRAD510.87
1120Melanosis, neurocutaneousEnrichmentNRAS0.87
1121Tooth agenesis, selective, 7EnrichmentLRP60.87
1122Fructosuria, essentialEnrichmentKHK0.87
1123Spastic paraplegia 57, autosomal recessiveEnrichmentTFG0.87
1124Anemia, congenital, nonspherocytic hemolytic, 6EnrichmentGSS0.87
1125Thanatophoric dysplasia, type iiEnrichmentFGFR30.87
1126Hypoadrenocorticism, familialEnrichmentABCD10.87
1127Isovaleric acidemiaEnrichmentIVD0.87
1128Erythrocyte lactate transporter defectEnrichmentSLC16A10.87
1129Mandibulofacial dysostosis with impaired intellectual developmentEnrichmentABCA40.87
1130Cornea plana 2, autosomal recessiveEnrichmentKERA0.87
11313-hydroxyisobutyryl-coa hydrolase deficiencyEnrichmentHIBCH0.87
1132Methylmalonic aciduria, cbla typeEnrichmentMMAA0.87
1133Galactosemia iiiEnrichmentGALE0.87
1134Biotinidase deficiencyEnrichmentBTD0.87
1135Sessile serrated polyposis cancer syndromeEnrichmentRNF430.87
1136Newfoundland rod-cone dystrophyEnrichmentRLBP10.87
1137Mucopolysaccharidosis, type iiidEnrichmentGNS0.87
1138Lethal congenital contracture syndrome 2EnrichmentERBB30.87
1139Caudal duplication anomalyEnrichmentAXIN10.87
1140Noonan syndrome 6EnrichmentNRAS0.87
1141Odontochondrodysplasia 1EnrichmentTRIP110.87
1142Muscular dystrophy-dystroglycanopathy , type b, 1EnrichmentPOMT10.87
1143Congenital disorder of glycosylation, type ihEnrichmentALG80.87
1144Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF170.87
1145Congenital disorder of glycosylation, type iaEnrichmentPMM20.87
1146Microphthalmia/coloboma 10EnrichmentRBP40.87
1147Anemia, congenital, nonspherocytic hemolytic, 7EnrichmentGCLC0.87
1148Ectodermal dysplasia 13, hair/tooth typeEnrichmentKREMEN10.87
1149Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or completeEnrichmentCYP11A10.87
1150Microphthalmia/coloboma 7EnrichmentABCB60.87
1151Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiencyEnrichmentAHCY0.87
1152Seckel syndrome 8EnrichmentDNA20.87
1153Gist-plus syndromeEnrichmentPDGFRA0.87
1154Bile acid synthesis defect, congenital, 3EnrichmentCYP7B10.87
1155Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR30.87
1156Diarrhea 1, secretory chloride, congenitalEnrichmentSLC26A30.87
1157Ataxia-oculomotor apraxia 3EnrichmentPIK3R50.87
1158Accelerated tumor formationEnrichmentMDM20.87
1159Fanconi renotubular syndrome 2EnrichmentSLC34A10.87
1160Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK50.87
1161Retinitis pigmentosa 79EnrichmentHK10.87
1162CryohydrocytosisEnrichmentSLC4A10.87
1163Pseudoxanthoma elasticum, forme frusteEnrichmentABCC60.87
1164Aplasia of lacrimal and salivary glandsEnrichmentFGF100.87
1165Bent bone dysplasia syndrome 1EnrichmentFGFR20.87
1166TritanopiaEnrichmentOPN1SW0.87
1167Anemia, hypochromic microcytic, with iron overload 1EnrichmentSLC11A20.87
11683-methylcrotonyl-coa carboxylase 2 deficiencyEnrichmentMCCC20.87
1169Cerebrotendinous xanthomatosisEnrichmentCYP27A10.87
1170Encephalopathy, acute, infection-induced 6EnrichmentTICAM10.87
1171Congenital disorder of glycosylation, type iuEnrichmentDPM20.87
1172Gallbladder disease 1EnrichmentABCB40.87
1173Schizophrenia 18EnrichmentSLC1A10.87
1174Noonan syndrome 11EnrichmentMRAS0.87
1175Exudative vitreoretinopathy 8EnrichmentLRP60.87
1176Halperin-birk syndromeEnrichmentSEC31A0.87
1177Microcornea, myopic chorioretinal atrophy, and telecanthusEnrichmentADAMTS180.87
1178Blood group--swann systemEnrichmentSLC4A10.87
1179Cerebral cavernous malformations 4EnrichmentPIK3CA0.87
1180Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB20.87
1181Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG10.87
1182Interstitial lung disease 1EnrichmentSFTPA10.87
1183Congenital disorder of glycosylation, type iaaEnrichmentNUS10.87
1184Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM10.87
1185Intellectual disability and myopathy syndromeEnrichmentABCC90.87
1186Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA10.87
1187Fanconi anemia, complementation group rEnrichmentRAD510.87
1188Fanconi anemia, complementation group uEnrichmentXRCC20.87
1189Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesEnrichmentB3GALT60.87
1190Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B0.87
1191Muscular dystrophy-dystroglycanopathy , type b, 15EnrichmentDPM30.87
1192Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesEnrichmentALG140.87
1193Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalitiesEnrichmentPPFIBP10.87
1194Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP20.87
1195Developmental and epileptic encephalopathy 58EnrichmentNTRK20.87
1196Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM10.87
1197Congenital disorder of glycosylation, type iiwEnrichmentSLC37A40.87
1198Adams-oliver syndrome 6EnrichmentDLL40.87
1199Tumoral calcinosis, hyperphosphatemic, familial, 3EnrichmentKL0.87
1200Intellectual developmental disorder, x-linked, syndromic, houge typeEnrichmentCNKSR20.87
1201Bleeding disorder, platelet-type, 25EnrichmentTPM40.87
1202Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA10.87
1203Myoclonic epilepsy of lafora 2EnrichmentNHLRC10.87
1204Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP0.87
1205Maple syrup urine disease, type iiEnrichmentDBT0.87
1206Intellectual disability-hypotonic facies syndrome, x-linked, 1EnrichmentATRX0.87
1207Immunodeficiency 131EnrichmentIRF40.87
1208Maturity-onset diabetes of the young, type 12EnrichmentABCC80.87
1209Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A0.87
1210Chromosome 2q37 deletion syndromeEnrichmentHDAC40.87
1211Auriculocondylar syndrome 4EnrichmentHDAC90.87
1212Hennekam lymphangiectasia-lymphedema syndrome 3EnrichmentADAMTS30.87
1213Autism x-linked 3EnrichmentMECP20.87
1214Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B0.87
1215Lessel-kubisch syndromeEnrichmentMDM20.87
1216Cornelia de lange syndrome 5EnrichmentHDAC80.87
1217Pulmonary hypertension, primary, 6EnrichmentCAPNS10.87
1218Rhabdomyosarcoma, embryonal, 1EnrichmentSLC67A10.87
1219Immunodeficiency 48EnrichmentZAP700.87
1220Short syndromeEnrichmentPIK3R10.87
1221Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairmentEnrichmentSLC9A60.87
1222Bone marrow failure syndrome 5EnrichmentTP530.87
1223Von willebrand disease, type 3EnrichmentVWF0.87
1224Houge-janssens syndrome 4EnrichmentPPP2R5C0.87
1225Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B0.87
1226Homocystinuria-megaloblastic anemia, cbld typeEnrichmentMMADHC0.87
1227Nivelon-nivelon-mabille syndromeEnrichmentHHAT0.87
1228Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A20.87
1229Thrombophilia, x-linked, due to factor ix defectEnrichmentF90.87
1230Gillessen-kaesbach-nishimura syndromeEnrichmentALG90.87
1231Premature ovarian failure 17EnrichmentXRCC20.87
1232Retinitis pigmentosa 59EnrichmentDHDDS0.87
1233Meester-loeys syndromeEnrichmentBGN0.87
1234Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA0.87
1235Colorblindness, partial, protan seriesEnrichmentOPN1LW0.87
1236Properdin deficiency, x-linkedEnrichmentCFP0.87
1237Acrodermatitis enteropathicaEnrichmentSLC39A40.87
1238Tn polyagglutination syndromeEnrichmentC1GALT1C10.87
1239Vitamin b12 deficiencyEnrichmentAMN0.87
1240Glucose/galactose malabsorptionEnrichmentSLC5A10.87
1241Systemic lupus erythematosus 1EnrichmentTLR50.87
1242Hemolytic uremic syndrome, atypical, 8, with rhizomelic short statureEnrichmentC1GALT1C10.87
1243Papilloma of choroid plexusEnrichmentTP530.87
1244Vitamin k-dependent clotting factors, combined deficiency of, 1EnrichmentGGCX0.87
1245Cataract 38EnrichmentAGK0.87
1246Sandhoff diseaseEnrichmentHEXB0.87
1247Basal cell carcinoma 7EnrichmentTP530.87
1248Brunner syndromeEnrichmentMAOA0.87
1249Lynch syndrome 2EnrichmentMLH10.87
1250Heyn-sproul-jackson syndromeEnrichmentDNMT3A0.87
1251Hypospadias 2, x-linkedEnrichmentMAMLD10.87
1252Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA0.87
1253Galactosemia ivEnrichmentGALM0.87
1254Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6EnrichmentDNA20.87
1255Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC20.87
1256Anaplastic thyroid carcinomaEnrichmentTP530.87
1257Spermatogenic failure 50EnrichmentXRCC20.87
1258T-cell large granular lymphocyte leukemiaEnrichmentSTAT30.87
1259Infant-type hemispheric gliomaEnrichmentBRCA10.87
1260Metacarpal 4-5 fusionEnrichmentFGF160.87
1261Biotin deficiencyEnrichmentBTD0.87
1262Adult onset demyelinating leukodystrophyEnrichmentLMNB10.87
1263Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN10.87
1264Achondrogenesis, type ibEnrichmentSLC26A20.87
1265Dyschromatosis universalis hereditariaEnrichmentABCB60.87
1266Pancreatic cancer 2EnrichmentBRCA20.87
1267Central diabetes insipidusEnrichmentAVP0.87
1268Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC70.87
1269Hypercalcemia, infantile, 2EnrichmentSLC34A10.87
1270Autism 16EnrichmentSLC9A90.87
1271Noonan syndrome 14EnrichmentSPRED20.87
1272Aortic aneurysm, familial thoracic 12EnrichmentTHSD40.87
1273Jawad syndromeEnrichmentRBBP80.87
1274Cardiomyopathy, dilated, 1vEnrichmentPSEN20.87
1275X-linked nephrogenic diabetes insipidusEnrichmentAVPR20.87
1276Ichthyosis, congenital, autosomal recessive 5EnrichmentCYP4F220.87
1277Osteoporosis-pseudoglioma syndromeEnrichmentLRP50.87
12785-oxoprolinase deficiencyEnrichmentOPLAH0.87
1279Papillary tumor of the pineal regionEnrichmentPTEN0.87
1280PentosuriaEnrichmentDCXR0.87
1281Intrinsic factor deficiencyEnrichmentCBLIF0.87
1282Developmental and epileptic encephalopathy 109EnrichmentFZR10.87
1283Hemochromatosis, type 4EnrichmentSLC40A10.87
1284Lacrimoauriculodentodigital syndrome 3EnrichmentFGF100.87
1285Familial isolated trichomegalyEnrichmentFGF50.87
1286Ribose 5-phosphate isomerase deficiencyEnrichmentRPIA0.87
1287Diabetes mellitus, transient neonatal, 3EnrichmentKCNJ110.87
1288Coronary artery disease, autosomal dominant 2EnrichmentLRP60.87
1289Cardiofaciocutaneous syndrome 2EnrichmentKRAS0.87
1290Pseudohyperkalemia, familial, 2, due to red cell leakEnrichmentABCB60.87
1291Colorectal cancer 1EnrichmentGALNT120.87
1292Houge-janssens syndrome 2EnrichmentPPP2R1A0.87
1293Muscular dystrophy-dystroglycanopathy , type b, 6EnrichmentLARGE10.87
1294Spondyloepimetaphyseal dysplasia, aggrecan typeEnrichmentACAN0.87
1295Mucopolysaccharidosis, type ixEnrichmentHYAL10.87
1296Alzheimer disease 18EnrichmentADAM100.87
1297Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitiesEnrichmentZMYM20.87
1298Hyperinsulinemic hypoglycemia, familial, 3EnrichmentGCK0.87
1299Amelogenesis imperfecta, hypomaturation type, iia5EnrichmentSLC24A40.87
1300Cardiomyopathy, dilated, 1wEnrichmentVCL0.87
1301LymphangiomaEnrichmentBRAF0.87
1302Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG0.87
1303Long qt syndrome 11EnrichmentAKAP90.87
1304Crouzon syndrome with acanthosis nigricansEnrichmentFGFR30.87
1305Hemifacial myohyperplasiaEnrichmentPIK3CA0.87
1306Deafness, autosomal dominant 5EnrichmentGSDME0.87
1307Kahrizi syndromeEnrichmentSRD5A30.87
1308Noonan syndrome-like disorder with loose anagen hair 1EnrichmentSHOC20.87
1309Acrocapitofemoral dysplasiaEnrichmentIHH0.87
1310Congenital disorder of glycosylation, type icEnrichmentALG60.87
1311Spondyloepiphyseal dysplasia, kimberley typeEnrichmentACAN0.87
1312Hereditary spastic paraplegia 18EnrichmentERLIN20.87
1313Ataxia-telangiectasia-like disorder 1EnrichmentMRE110.87
1314Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA0.87
1315Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP50.87
1316Congenital disorder of glycosylation, type iifEnrichmentSLC35A10.87
1317Phace associationEnrichmentBRAF0.87
1318Neuropathy, hereditary motor and sensory, russe typeEnrichmentHK10.87
1319Deafness, autosomal dominant 25EnrichmentSLC17A80.87
1320Muscular dystrophy-dystroglycanopathy , type c, 1EnrichmentPOMT10.87
1321Ovarian dysgenesis 8EnrichmentESR20.87
1322Parkinsonism-dystonia 1, infantile-onsetEnrichmentSLC6A30.87
1323Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN10.87
1324Platelet glycoprotein iv deficiencyEnrichmentCD360.87
1325Neurodevelopmental disorder with visual defects and brain anomaliesEnrichmentHK10.87
1326Ichthyosis prematurity syndromeEnrichmentSLC27A40.87
1327Rothmund-thomson syndrome, type 1EnrichmentANAPC10.87
1328Neuroendocrine tumorEnrichmentCDKN1B0.87
1329Immunodeficiency 67EnrichmentIRAK40.87
1330Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR20.87
1331Cardiomyopathy, dilated, 1uEnrichmentPSEN10.87
1332Leopard syndrome 2EnrichmentRAF10.87
1333Huppke-brendel syndromeEnrichmentSLC33A10.87
1334Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR0.87
1335Radiohumeral fusions with other skeletal and craniofacial anomaliesEnrichmentCYP26B10.87
1336Multiple synostoses syndrome 3EnrichmentFGF90.87
1337Glaucoma 1, open angle, oEnrichmentNTF40.87
1338Cerebral palsy, spastic quadriplegic, 2EnrichmentKANK10.87
1339Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL0.87
1340Epilepsy, idiopathic generalized 12EnrichmentSLC2A10.87
1341Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB0.87
1342Developmental delay with hypotonia, myopathy, and brain abnormalitiesEnrichmentGOLGA20.87
1343Branched-chain keto acid dehydrogenase kinase deficiencyEnrichmentBCKDK0.87
1344Maple syrup urine disease, mild variantEnrichmentPPM1K0.87
1345Focal facial dermal dysplasia 4EnrichmentCYP26C10.87
1346Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB0.87
1347Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R10.87
1348Arthrogryposis, distal, type 12EnrichmentADAMTS150.87
1349Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD0.87
1350Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B0.87
1351Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduriaEnrichmentIDH10.87
1352Night blindness, congenital stationary, type 1dEnrichmentSLC24A10.87
1353Diabetes mellitus, permanent neonatal, 2EnrichmentKCNJ110.87
1354Amyotrophic lateral sclerosis 19EnrichmentERBB40.87
1355Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP60.87
1356Reticulate acropigmentation of kitamuraEnrichmentADAM100.87
1357Myofibromatosis, infantile, 2EnrichmentNOTCH30.87
1358Arthrogryposis, impaired intellectual development, and seizuresEnrichmentSLC35A30.87
1359MelioidosisEnrichmentTLR50.87
1360Congenital intrinsic factor deficiencyEnrichmentCBLIF0.87
1361Hyperekplexia 3EnrichmentSLC6A50.87
1362Microcephaly 26, primary, autosomal dominantEnrichmentLMNB10.87
1363Syndromic x-linked intellectual disability lubs typeEnrichmentMECP20.87
1364Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD0.87
1365Purine nucleoside phosphorylase deficiencyEnrichmentPNP0.87
1366Methylmalonic aciduria and homocystinuria, cblj typeEnrichmentABCD40.87
1367Familial adenomatous polyposis 3EnrichmentNTHL10.87
1368Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB0.87
1369Immunodeficiency, common variable, 3EnrichmentCD190.87
1370Loeys-dietz syndrome 6EnrichmentSMAD20.87
1371Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R10.87
1372Methylmalonic aciduria, transient, due to transcobalamin receptor defectEnrichmentCD3200.87
1373Maturity-onset diabetes of the young, type 13EnrichmentKCNJ110.87
1374Acute myeloid leukemia with minimal differentiationEnrichmentFLT30.87
1375Microphthalmia/coloboma 11EnrichmentFZD50.87
1376EncephalitisEnrichmentABCD10.87
1377Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG0.87
1378Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN0.87
1379Endometrial serous adenocarcinomaEnrichmentATM0.87
1380Muscular dystrophy-dystroglycanopathy , type c, 9EnrichmentDAG10.87
1381Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF80.87
1382Obesity, hyperphagia, and developmental delayEnrichmentNTRK20.87
1383Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D0.87
1384Glioma susceptibility 2EnrichmentPTEN0.87
1385Acne inversa, familial, 3EnrichmentPSEN10.87
1386Lymphatic malformation 13EnrichmentTHSD10.87
1387BrachyolmiaEnrichmentPAPSS20.87
1388Fasting plasma glucose level quantitative trait locus 5EnrichmentGCKR0.87
1389Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR30.87
1390Pregnancy loss, recurrent 2EnrichmentF20.87
1391Ductal carcinoma in situEnrichmentTP530.87
1392Kosaki overgrowth syndromeEnrichmentPDGFRB0.87
1393Adult polyglucosan body diseaseEnrichmentGBE10.87
1394Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP700.87
1395Autosomal dominant hyperinsulinism due to sur1 deficiencyEnrichmentABCC80.87
1396Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF230.87
1397Hartsfield syndromeEnrichmentFGFR10.87
1398Autosomal recessive brachyolmiaEnrichmentPAPSS20.87
1399Renal hypodysplasia/aplasia 2EnrichmentFGF200.87
1400Hereditary multiple osteochondromasEnrichmentEXT10.87
1401Mismatch repair cancer syndrome 2EnrichmentMSH20.87
1402Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT30.87
1403Visual impairment and progressive phthisis bulbiEnrichmentMARK30.87
1404Intellectual developmental disorder with persistence of fetal hemoglobinEnrichmentBCL11A0.87
1405Atypical werner syndromeEnrichmentLMNA0.87
1406Retinitis pigmentosa 86EnrichmentKIAA15490.87
1407Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG20.87
1408Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A0.87
1409Chronic enteropathy associated with slco2a1 geneEnrichmentSLCO2A10.87
1410Chronic respiratory distress with surfactant metabolism deficiencyEnrichmentSFTPC0.87
1411Mismatch repair cancer syndrome 4EnrichmentPMS20.87
1412Intellectual developmental disorder, autosomal dominant 55, with seizuresEnrichmentNUS10.87
1413Developmental delay and seizures with or without movement abnormalitiesEnrichmentDHDDS0.87
1414Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG10.87
1415Combined low ldl and fibrinogenEnrichmentB4GALT10.87
1416Von willebrand's diseaseEnrichmentVWF0.87
1417Hyperplastic polyposis syndromeEnrichmentRNF430.87
1418Developmental and epileptic encephalopathy 68EnrichmentTRAK10.87
1419Congenital myopathy 9b, proximal, with minicore lesionsEnrichmentFXR10.87
1420Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC40.87
1421ExostosisEnrichmentEXT10.87
1422Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesEnrichmentSEL1L0.87
1423Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB0.87
1424Lethal occipital encephalocele-skeletal dysplasia syndromeEnrichmentCYP26B10.87
1425Aneurysm, intracranial berry, 12EnrichmentTHSD10.87
1426Postural orthostatic tachycardia syndromeEnrichmentSLC6A20.87
1427Congenital myopathy 9aEnrichmentFXR10.87
1428Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A0.87
1429Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC20.87
1430Polycystic liver disease 3 with or without kidney cystsEnrichmentALG80.87
1431Ceroid lipofuscinosis, neuronal, 15EnrichmentCLCN60.87
1432Methylmalonic acidemia due to transcobalamin receptor defectEnrichmentCD3200.87
1433Chronic mast cell leukemiaEnrichmentKIT0.87
1434Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5EnrichmentTOP3A0.87
1435TrigonitisEnrichmentRAF10.87
1436Red-green color blindnessEnrichmentOPN1MW0.87
1437Rectal benign neoplasmEnrichmentMSH20.87
1438Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA0.87
1439Autosomal recessive hypophosphatemic bone diseaseEnrichmentSLC34A30.87
1440Thyroid gland undifferentiated carcinomaEnrichmentTP530.87
1441Autosomal recessive spastic paraplegia type 60EnrichmentWDR480.87
1442Tufted angioma of skinEnrichmentKDR0.87
1443Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN10.87
1444Asphyxia neonatorumEnrichmentCOL1A10.87
1445Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G0.87
1446Maple syrup urine disease, type ibEnrichmentBCKDHB0.87
1447Deafness, autosomal dominant 69EnrichmentKITLG0.87
1448Plexiform neurofibromaEnrichmentNF10.87
1449Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD20.87
1450Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomaliesEnrichmentABCA30.87
1451Spastic paraplegia 62, autosomal recessiveEnrichmentERLIN10.87
1452Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP530.87
1453Spondylodysplastic ehlers-danlos syndromeEnrichmentB4GALT70.87
1454Hermansky-pudlak syndrome due to ap3b1 deficiencyEnrichmentAP3B10.87
1455Developmental delay, hypotonia, and impaired languageEnrichmentFBXW70.87
1456NeurofibromaEnrichmentNF10.87
1457Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR30.87
1458X-linked cerebral adrenoleukodystrophyEnrichmentABCD10.87
1459Cardiac valvular dysplasia 2EnrichmentADAMTS190.87
1460B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)EnrichmentETV60.87
1461AmyloidosisEnrichmentTTR0.87
1462Cdkn2a cancer predispositionEnrichmentCDKN2A0.87
1463Thrombocytopenia 13, syndromicEnrichmentGALE0.87
1464Classic dopamine transporter deficiency syndromeEnrichmentSLC6A30.87
1465Immunodeficiency 125EnrichmentFLT3LG0.87
1466Bcl11a-related intellectual disabilityEnrichmentBCL11A0.87
1467Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF40.87
1468Thrombocytopenia 12 with or without myopathyEnrichmentGNE0.87
1469Bernard-soulier syndrome type a2EnrichmentGP1BA0.87
1470Mandibuloacral dysplasiaEnrichmentLMNA0.87
1471Atrioventricular blockEnrichmentLMNA0.87
1472Congenital fibrinogen deficiencyEnrichmentFGG0.87
1473HypospadiasEnrichmentPIK3CA0.87
1474Body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiencyEnrichmentGGCX0.87
1475Pituitary cancerEnrichmentPMS20.87
1476Lrp5-related primary osteoporosisEnrichmentLRP50.87
1477Ascending colon cancerEnrichmentMSH20.87
1478Hot water epilepsyEnrichmentSLC1A10.87
1479Rothmund-thomson syndrome, type 4EnrichmentDNA20.87
1480Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP530.87
1481Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC40.87
1482NeurofibromatosisEnrichmentNF10.87
1483Diazoxide-resistant focal hyperinsulinism due to sur1 deficiencyEnrichmentABCC80.87
1484C1 inhibitor deficiencyEnrichmentSERPING10.87
1485Gestational diabetesEnrichmentGCK0.87
1486Chromosome 15q24 deletion syndromeEnrichmentSIN3A0.87
1487Spastic paraplegia 18a, autosomal dominantEnrichmentERLIN20.87
1488Prothrombin deficiencyEnrichmentF20.87
1489Transient cerebral ischemiaEnrichmentNOTCH30.87
1490Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT30.87
1491Basal cell carcinomaEnrichmentPALB20.87
1492Chromosome 17q11.2 deletion syndromeEnrichmentNF10.87
1493Methylmalonic aciduria, cbld typeEnrichmentMMADHC0.87
1494Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiencyEnrichmentCYP11A10.87
1495Isolated bone marrow mastocytosisEnrichmentKIT0.87
1496Aquagenic palmoplantar keratodermaEnrichmentCFTR0.87
1497Gastric neuroendocrine neoplasmEnrichmentATRX0.87
1498Congenital pulmonary airway malformationEnrichmentKRAS0.87
1499B-cell non-hodgkin lymphomaEnrichmentATM0.87
1500Smoldering systemic mastocytosisEnrichmentKIT0.87
1501Optic nerve gliomaEnrichmentNF10.87
1502Choroid plexus cancerEnrichmentTP530.87
1503Ovarian cystEnrichmentMSH20.87
1504Rare venous malformationEnrichmentPIK3CA0.87
1505Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH30.87
1506Pompe disease, late-onsetEnrichmentGAA0.87
1507Alk-positive anaplastic large cell lymphomaEnrichmentALK0.87
1508Familial adenomatous polyposisEnrichmentAPC0.87
1509Vitamin b12-responsive methylmalonic acidemiaEnrichmentMMAA0.87
1510Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeEnrichmentADAMTSL10.87
1511Glycogen storage disease due to glucose-6-phosphatase deficiency type ibEnrichmentSLC37A40.87
1512Diaphragmatic eventrationEnrichmentPIK3CA0.87
1513Congestive heart failureEnrichmentABCC80.87
1514Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC20.87
1515Fgfr3-related chondrodysplasiaEnrichmentFGFR30.87
1516Capillary leak syndromeEnrichmentTLN10.87
1517UrticariaEnrichmentF120.87
1518Waldenstram macroglobulinemiaEnrichmentMYD880.87
1519Hemophilia b leydenEnrichmentF90.87
1520Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC20.87
1521Glb1-related disordersEnrichmentGLB10.87
1522MastocytosisEnrichmentKIT0.87
1523Spondyloepimetaphyseal dysplasia with joint laxityEnrichmentB3GALT60.87
1524Pik3ca-related overgrowth spectrumEnrichmentPIK3CA0.87
1525Syringocystadenoma papilliferumEnrichmentBRAF0.87
1526Osteochondritis dissecansEnrichmentACAN0.87
1527Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR30.87
1528Epilepsy with myoclonic absencesEnrichmentSLC2A10.87
1529Familial progressive hyperpigmentationEnrichmentKITLG0.87
1530Hereditary multiple exostosesEnrichmentEXT10.87
1531Pleomorphic xanthoastrocytomaEnrichmentTP530.87
1532Rare combined vascular malformationEnrichmentPIK3CA0.87
1533Homocystinuria without methylmalonic aciduriaEnrichmentMTRR0.87
1534Hereditary angioedema with c1inh deficiencyEnrichmentSERPING10.87
1535GangliogliomaEnrichmentBRAF0.87
1536Cavernous lymphangiomaEnrichmentPIK3CA0.87
1537Whipple diseaseEnrichmentIRF40.87
1538Intermediate dend syndromeEnrichmentKCNJ110.87
1539Pik3ca-related overgrowth syndromeEnrichmentPIK3CA0.87
1540Cutaneous mastocytomaEnrichmentKIT0.87
1541Nongerminomatous germ cell tumorEnrichmentBRAF0.87
1542Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA0.87
1543Phace syndromeEnrichmentBRAF0.87
1544Muscle-eye-brain disease with bilateral multicystic leucodystrophyEnrichmentDAG10.87
1545Glycogen storage disease type 1 due to slc37a4 mutationEnrichmentSLC37A40.87
1546Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR0.87
1547Gardner syndromeEnrichmentAPC0.87
1548Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeEnrichmentFDXR0.87
1549Severe primary trimethylaminuriaEnrichmentFMO30.87
1550Hereditary amyloidosisEnrichmentTTR0.87
1551Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP50.87
1552Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaEnrichmentGGCX0.87
1553Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeEnrichmentCDKN1C0.87
1554Retinal diseaseEnrichmentABCA40.87
1555Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeEnrichmentERLIN20.87
1556Typical urticaria pigmentosaEnrichmentKIT0.87
1557Extrinsic allergic alveolitisEnrichmentMUC5B0.87
1558Isolated focal cortical dysplasia type iaEnrichmentSLC35A20.87
1559Parkinsonism-dystonia, infantileEnrichmentSLC6A30.87
15605q22 microdeletion syndromeEnrichmentAPC0.87
1561Phakomatosis pigmentokeratoticaEnrichmentHRAS0.87
1562Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuriaEnrichmentPAH0.87
1563Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A0.87
1564Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN0.87
1565Pash syndromeEnrichmentNCSTN0.87
1566AdrenomyeloneuropathyEnrichmentABCD10.87
1567Attenuated familial adenomatous polyposisEnrichmentAPC0.87
1568Attrv30m amyloidosisEnrichmentTTR0.87
1569Huntington's disease-likeEnrichmentPSEN20.87
1570Classic hairy cell leukemiaEnrichmentBRAF0.87
1571Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutationEnrichmentTFG0.87
1572Nodular urticaria pigmentosaEnrichmentKIT0.87
1573Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA0.87
1574Cathepsin a-related arteriopathy-strokes-leukoencephalopathyEnrichmentCTSA0.87
1575Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ110.87
1576Fatal post-viral neurodegenerative disorderEnrichmentPRF10.87
1577Hartsfield-bixler-demyer syndromeEnrichmentFGFR10.87
1578Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA0.87
1579Alk-positive large b-cell lymphomaEnrichmentALK0.87
1580Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT0.87
1581Telangiectasia macularis eruptiva perstansEnrichmentKIT0.87
1582Acute mast cell leukemiaEnrichmentKIT0.87
1583Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT30.87
1584Methylmalonic aciduria and homocystinuriaEnrichmentMMACHC0.87
1585Chronic primary adrenal insufficiencyEnrichmentABCD10.87
1586Eccrine angiomatous hamartomaEnrichmentPIK3CA0.87
1587Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC20.87
1588Autosomal dominant combined immunodeficiency due to erbin deficiencyEnrichmentERBIN0.87
1589F12-associated cold autoinflammatory syndromeEnrichmentF120.87
1590Congenital generalized hypercontractile muscle stiffness syndromeEnrichmentTPM30.87
1591Short stature-advanced bone age-early-onset osteoarthritis syndromeEnrichmentACAN0.87
1592Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF0.87
1593Non-syndromic unicoronal craniosynostosisEnrichmentFGFR20.87
1594Familial progressive hyper- and hypopigmentationEnrichmentKITLG0.87
1595Autosomal recessive hyperinsulinism due to sur1 deficiencyEnrichmentABCC80.87
1596Plaque-form urticaria pigmentosaEnrichmentKIT0.87
1597Interstitial lung disease specific to childhoodEnrichmentFGF100.87
1598Macrodactyly of toeEnrichmentPIK3CA0.87
1599Serous carcinoma of the corpus uteriEnrichmentERBB20.87
1600Neurocutaneous melanocytosisEnrichmentNRAS0.87
1601Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A10.87
1602Bullous diffuse cutaneous mastocytosisEnrichmentKIT0.87
1603Zap70-related severe combined immunodeficiencyEnrichmentZAP700.87
1604Inherited prekallikrein deficiencyEnrichmentKLKB10.87
1605Primary peritoneal carcinomaEnrichmentBRCA10.87
1606HypoalphalipoproteinemiaEnrichmentABCA10.87
1607Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA0.87
1608Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH0.87
1609Hereditary arginine vasopressin deficiencyEnrichmentAVP0.87
1610LaminopathyEnrichmentLMNA0.87
1611Testis seminomaEnrichmentKIT0.87
161246,xy ovotesticular disorder of sex developmentEnrichmentMAMLD10.87
1613Attrv122i amyloidosisEnrichmentTTR0.87
1614Autosomal dominant hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ110.87
1615Autosomal recessive hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ110.87
1616Connective tissue diseaseEnrichmentCOL5A1, FGFR3, NOTCH1, SLC26A2, SMAD3, TGFBR2, TRIP110.86
1617Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A2, PPIB, SLC34A10.86
1618Hemifacial hyperplasiaEnrichmentFGFR2, FGFR30.85
1619Capillary malformations, congenitalEnrichmentCCNH, PIK3CA0.85
1620Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentATRIP, NOTCH30.85
1621Fanconi anemia, complementation group d2EnrichmentBRIP1, VHL0.85
1622Mucopolysaccharidosis, type ivaEnrichmentGALNS, IDUA0.85
1623Von hippel-lindau syndromeEnrichmentCCND1, VHL0.85
1624Gitelman syndromeEnrichmentIDUA, SLC12A30.85
1625Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentADA, JAK30.85
1626Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentGANAB, SHOC20.85
1627Deafness, autosomal recessive 63EnrichmentANAPC15, MYH90.85
1628Chondrosarcoma, extraskeletal myxoidEnrichmentTAF15, TFG0.85
1629Familial adenomatous polyposis 1EnrichmentAPC, MUTYH0.85
1630Pervasive developmental disorderEnrichmentFBXW7, SPTBN10.85
1631Transient neonatal diabetes mellitusEnrichmentABCC8, KCNJ110.85
1632HoloprosencephalyEnrichmentFGF8, FGFR10.85
1633PolyhydramniosEnrichmentABCC8, SLC26A30.85
1634Vascular dementiaEnrichmentATRIP, NOTCH30.85
1635Acute megakaryocytic leukemiaEnrichmentPTEN, TP530.85
1636Free sialic acid storage disorderEnrichmentGNE, SLC17A50.85
1637Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentBCL11A, HBB0.85
1638Rare pervasive developmental disorderEnrichmentFBXW7, SPTBN10.85
1639Cat eye syndromeEnrichmentABCB6, ACTG1, FZD50.84
1640Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM1, TBK1, VCP0.84
1641Peters-plus syndromeEnrichmentB3GLCT, COL4A1, CYP1B10.84
1642Aplastic anemiaEnrichmentNBN, PRF1, RPL50.84
1643NephrolithiasisEnrichmentSLC12A1, SLC34A1, SLC3A10.84
1644Rheumatoid arthritisEnrichmentIL10, TLR10.83
1645Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB0.83
1646Spinocerebellar ataxia 29EnrichmentITPR10.83
1647Seizures, benign familial neonatal, 1EnrichmentATP1A30.83
1648Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP0.83
1649Amelogenesis imperfecta, type iaEnrichmentLAMB30.83
1650Hypomagnesemia 2, renalEnrichmentFXYD20.83
1651Familial mediterranean fever, autosomal dominantEnrichmentMEFV0.83
1652Blepharocheilodontic syndrome 1EnrichmentCTNND10.83
1653Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H10.83
1654Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A0.83
1655Spastic ataxia 1, autosomal dominantEnrichmentVAMP10.83
1656Cerebrocostomandibular syndromeEnrichmentSNRPB0.83
1657Chromosome 5q deletion syndromeEnrichmentRPS140.83
1658Pseudohypoparathyroidism, type iaEnrichmentGNAS0.83
1659Myhre syndromeEnrichmentSMAD40.83
1660Camurati-engelmann disease 1EnrichmentTGFB10.83
1661Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN10.83
1662Amelogenesis imperfecta, type igEnrichmentPRKAR1A0.83
1663Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN10.83
1664Storage pool platelet diseaseEnrichmentRUNX10.83
1665Pituitary adenoma 4, acth-secretingEnrichmentGNAI20.83
1666Osteogenesis imperfecta, type ixEnrichmentPPIB0.83
1667Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA30.83
1668Chylomicron retention diseaseEnrichmentSAR1B0.83
1669ArgininemiaEnrichmentMED230.83
1670Hyper-igd syndromeEnrichmentVPS410.83
1671Thumb deformityEnrichmentCREBBP0.83
1672Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentZDHHC90.83
1673Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR0.83
1674Neutropenia, severe congenital, x-linkedEnrichmentWAS0.83
1675Ebstein anomalyEnrichmentCDK80.83
1676Striatonigral degeneration, infantileEnrichmentNUP620.83
1677Omodysplasia 1EnrichmentGPC60.83
1678Chanarin-dorfman syndromeEnrichmentANO100.83
1679Myasthenic syndrome, congenital, 5EnrichmentLAMB20.83
1680Migraine, familial hemiplegic, 2EnrichmentATP1A20.83
1681Ovarian germ cell cancerEnrichmentCBL0.83
1682Cataract 35EnrichmentMYH90.83
1683Myotonic dystrophy 2EnrichmentCNBP0.83
1684Hardikar syndromeEnrichmentMED120.83
1685Immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasiaEnrichmentMAGT10.83
1686West nile virusEnrichmentCCR50.83
1687Opitz-kaveggia syndromeEnrichmentMED120.83
1688Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK0.83
1689Congenital disorder of glycosylation, type iibEnrichmentMOGS0.83
1690Histiocytoma, angiomatoid fibrousEnrichmentCREB10.83
1691Spinocerebellar ataxia, autosomal recessive 4EnrichmentVPS410.83
1692Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP0.83
1693Alternating hemiplegia of childhood 1EnrichmentATP1A20.83
1694Spinocerebellar ataxia 17EnrichmentTBP0.83
1695Nephronophthisis-like nephropathy 1EnrichmentRANGAP10.83
1696Intellectual developmental disorder, autosomal recessive 2EnrichmentCRBN0.83
1697Waardenburg syndrome, type 4cEnrichmentPOLR2F0.83
1698PseudopseudohypoparathyroidismEnrichmentGNAS0.83
1699Diamond-blackfan anemia 6EnrichmentRPL50.83
1700Diamond-blackfan anemia 9EnrichmentRPS100.83
1701Congenital cataracts, facial dysmorphism, and neuropathyEnrichmentCTDP10.83
1702Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK0.83
1703Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA0.83
1704Spastic paraplegia 12, autosomal dominantEnrichmentUBAP10.83
1705Griscelli syndrome, type 3EnrichmentMYO5A0.83
1706Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD40.83
1707Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentCUL30.83
1708Pontocerebellar hypoplasia, type 1aEnrichmentCHMP1A0.83
1709Agammaglobulinemia 6, autosomal recessiveEnrichmentCD79B0.83
1710Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM10.83
1711Deafness, autosomal dominant 20EnrichmentACTG10.83
1712Diamond-blackfan anemia 5EnrichmentRPL35A0.83
1713Lissencephaly 1EnrichmentLAMB10.83
1714Baraitser-winter syndrome 2EnrichmentACTG10.83
1715Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentKEAP10.83
1716Coenzyme q10 deficiency, primary, 6EnrichmentENTPD50.83
1717Lethal congenital contracture syndrome 8EnrichmentADCY60.83
1718Amyotrophic lateral sclerosis 16, juvenileEnrichmentSIGMAR10.83
1719Specific language impairment 5EnrichmentCOL4A40.83
1720Dubowitz syndromeEnrichmentLIG40.83
1721Duodenal atresiaEnrichmentGUCY2C0.83
1722Hallermann-streiff syndromeEnrichmentGJA10.83
1723Charcot-marie-tooth disease, axonal, type 2b2EnrichmentMED250.83
1724Neuronopathy, distal hereditary motor, autosomal recessive 2EnrichmentSIGMAR10.83
1725Robinow syndrome, autosomal dominant 3EnrichmentDVL30.83
1726Immunodeficiency 45EnrichmentIFNAR20.83
1727Sifrim-hitz-weiss syndromeEnrichmentCHD40.83
1728Chromosome 13q14 deletion syndromeEnrichmentRB10.83
1729Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC30.83
1730Diarrhea 5, with tufting enteropathy, congenitalEnrichmentEPCAM0.83
1731Night blindness, congenital stationary, type 1hEnrichmentGNB30.83
1732Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A0.83
1733Rafiq syndromeEnrichmentMAN1B10.83
1734Pierson syndromeEnrichmentLAMB20.83
1735Yao syndromeEnrichmentNOD20.83
1736Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB10.83
1737Immunodeficiency, common variable, 10EnrichmentNFKB20.83
1738Congenital disorder of glycosylation, type ixEnrichmentSTT3B0.83
1739Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I20.83
1740Schwartz-jampel syndrome, type 1EnrichmentHSPG20.83
1741Thrombocythemia 3EnrichmentJAK20.83
1742Immunodeficiency 51EnrichmentIL17RA0.83
1743Syndactyly, type vEnrichmentGJA10.83
1744Schuurs-hoeijmakers syndromeEnrichmentPACS10.83
1745Long qt syndrome 14EnrichmentCALM10.83
1746Familial mediterranean feverEnrichmentMEFV0.83
1747Loeys-dietz syndrome 3EnrichmentSMAD30.83
1748Diamond-blackfan anemia 12EnrichmentRPL150.83
1749Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H10.83
1750Hypotrichosis 11EnrichmentSNRPE0.83
1751Immunodeficiency 31cEnrichmentSTAT10.83
1752Psoriasis 14, pustularEnrichmentAP1S30.83
1753Developmental and epileptic encephalopathy 15EnrichmentST3GAL30.83
1754Sinoatrial node diseaseEnrichmentCORO1A0.83
1755Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A20.83
1756Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B0.83
1757Developmental and epileptic encephalopathy 87EnrichmentCDK190.83
1758Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC20.83
1759Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC20.83
1760Fibromuscular dysplasia, multifocalEnrichmentCOL5A10.83
1761Blepharocheilodontic syndrome 2EnrichmentCTNND10.83
1762Methemoglobinemia, alpha typeEnrichmentHBA10.83
1763Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC10.83
1764Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC40.83
1765Dystonia 30EnrichmentVPS160.83
1766Agammaglobulinemia, x-linkedEnrichmentBTK0.83
1767Charcot-marie-tooth disease, axonal, type 2ddEnrichmentATP1A10.83
1768Intellectual developmental disorder, autosomal dominant 73EnrichmentTAF40.83
1769Periventricular nodular heterotopia 8EnrichmentARF10.83
1770Congenital heart defects and skeletal malformations syndromeEnrichmentABL10.83
1771Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA30.83
1772Snijders blok-campeau syndromeEnrichmentCHD30.83
1773Birk-aharoni syndromeEnrichmentPSMC10.83
1774Congenital disorder of glycosylation with defective fucosylation 1EnrichmentFUT80.83
1775Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B0.83
1776Nephrotic syndrome, type 17EnrichmentNUP850.83
1777Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA0.83
1778Ohdo syndrome, x-linkedEnrichmentMED120.83
1779Keratoconus 9EnrichmentTUBA3D0.83
1780Menke-hennekam syndrome 2EnrichmentEP3000.83
1781Usher syndrome, type ivEnrichmentPRKAR1A0.83
1782Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB10.83
1783Pettigrew syndromeEnrichmentAP1S20.83
1784Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB40.83
1785Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB20.83
1786Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A0.83
1787Nut midline carcinomaEnrichmentBRD40.83
1788Periventricular nodular heterotopia 9EnrichmentMAP1B0.83
1789Craniometaphyseal dysplasiaEnrichmentGJA10.83
1790Stevens-johnson syndromeEnrichmentHLA-B0.83
1791Rela fusion-positive ependymomaEnrichmentRELA0.83
1792Lissencephaly 3EnrichmentTUBA1A0.83
1793Familial hemiplegic migraineEnrichmentATP1A20.83
1794Charcot-marie-tooth disease type 2b2EnrichmentMED250.83
1795Spastic paraplegia 64, autosomal recessiveEnrichmentENTPD10.83
1796Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H10.83
1797Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP0.83
1798Senior-loken syndrome 7EnrichmentAKT30.83
1799Agammaglobulinemia 4EnrichmentBLNK0.83
1800Agammaglobulinemia 6EnrichmentCD79B0.83
1801Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentTBK10.83
1802Leprosy 1EnrichmentTLR60.83
1803AcrodysostosisEnrichmentPRKAR1A0.83
1804PseudohypoparathyroidismEnrichmentGNAS0.83
1805Papillary renal cell carcinomaEnrichmentMET0.83
1806Spastic paraplegia 37, autosomal dominantEnrichmentKPNA30.83
1807Camurati-engelmann diseaseEnrichmentTGFB10.83
1808GlomerulonephritisEnrichmentCOL4A40.83
1809Body mass index quantitative trait locus 19EnrichmentADCY30.83
1810Hypomagnesemia, seizures, and impaired intellectual development 2EnrichmentATP1A10.83
1811Fibrolamellar carcinomaEnrichmentPRKACA0.83
1812Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F0.83
1813Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM170.83
1814Pericardial effusionEnrichmentNLRP30.83
1815Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK10.83
1816Diarrhea 6EnrichmentGUCY2C0.83
1817Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB30.83
1818Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H10.83
1819Intellectual developmental disorder, autosomal recessive 24EnrichmentTUSC30.83
1820Congenital heart defects, multiple types, 2EnrichmentTAB20.83
1821Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M10.83
1822Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC50.83
1823Hemoglobin lepore-beta-thalassemia syndromeEnrichmentHBB0.83
1824Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH20.83
1825Immunodeficiency 17EnrichmentCD3G0.83
1826Pseudosarcomatous fibromatosisEnrichmentMYH90.83
1827Cimdag syndromeEnrichmentVPS4A0.83
1828Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B0.83
1829Bardet-biedl syndrome 16EnrichmentAKT30.83
1830Dystonia 32EnrichmentVPS110.83
1831HypopituitarismEnrichmentGNAI20.83
1832Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentSTT3A0.83
1833Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA30.83
1834Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB50.83
1835Spastic ataxia 1EnrichmentVAMP10.83
1836Diamond-blackfan anemia 16EnrichmentRPL270.83
183714q11.2 microduplication syndromeEnrichmentSUPT16H0.83
1838Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG0.83
1839Immunodeficiency 57 with autoinflammationEnrichmentRIPK10.83
1840PolycythemiaEnrichmentJAK20.83
184117q24.2 microdeletion syndromeEnrichmentPSMD120.83
1842Myasthenic syndrome, congenital, 25, presynapticEnrichmentVAMP10.83
1843Diamond-blackfan anemia 17EnrichmentRPS270.83
1844Cholestasis-pigmentary retinopathy-cleft palate syndromeEnrichmentMED120.83
1845Torsion dystonia 4EnrichmentTUBB4A0.83
1846Polycystic kidney disease 3EnrichmentGANAB0.83
1847Familial isolated congenital aspleniaEnrichmentRPSA0.83
1848Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB10.83
1849Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK80.83
1850Multiple benign circumferential skin creases on limbsEnrichmentTUBB0.83
1851Congenital diarrhea 6EnrichmentGUCY2C0.83
1852Intermittent hydrarthrosisEnrichmentMEFV0.83
1853Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiencyEnrichmentGUCY2C0.83
1854Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A0.83
1855Basal ganglia diseaseEnrichmentIFIH10.83
1856Crohn's diseaseEnrichmentNOD20.83
1857Med12-related disordersEnrichmentMED120.83
1858Blepharophimosis - intellectual disability syndrome, mkb typeEnrichmentMED120.83
1859Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2140.83
1860ArthritisEnrichmentSYK0.83
1861Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS0.83
1862Hypereosinophilic syndromeEnrichmentJAK20.83
1863Immunodeficiency 133EnrichmentARPC50.83
18643q26 microduplication syndromeEnrichmentBRD40.83
1865Acute leukemia of ambiguous lineageEnrichmentVHL0.83
1866Malignant germ cell tumor of ovaryEnrichmentCBL0.83
1867Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB20.83
1868Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH20.83
1869TeratomaEnrichmentCTNNB10.83
1870Primary mediastinal large b-cell lymphomaEnrichmentXPO10.83
1871Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentRPN10.83
1872Familial retinoblastomaEnrichmentRB10.83
1873Sickle cell s-lepore diseaseEnrichmentHBB0.83
1874Common variable immunodeficiency 12EnrichmentNFKB10.83
1875Acute necrotizing encephalopathy of childhoodEnrichmentRANBP20.83
1876Microcephalic primordial dwarfism-insulin resistance syndromeEnrichmentXRCC40.83
1877Continuous spikes and waves during sleepEnrichmentTUBA1A0.83
1878Cerebral visual impairmentEnrichmentGNB10.83
1879Submucosal cleft palateEnrichmentUBB0.83
1880Cleft hard palateEnrichmentUBB0.83
1881Autosomal recessive non-syndromic intellectual disabilityEnrichmentCRBN, GEMIN5, MAN1B1, MED23, MED25, TPR, TUSC30.82
1882Patent foramen ovaleEnrichmentPSMC3, PTPN11, TAB20.81
1883Creatine phosphokinase, elevated serumEnrichmentANO5, DAG1, GAA, LAMA20.78
1884Isolated elevated serum creatine phosphokinase levelsEnrichmentANO5, DAG1, GAA, LAMA20.78
1885Microform holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, SHH0.78
1886Lobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, SHH0.78
1887Attention deficit-hyperactivity disorderEnrichmentGNB5, KIF5B, MAP1B, MECP2, RPL170.76
1888Myocardial infarctionEnrichmentESR1, GCLC, GCLM, ITGB3, PSMA60.76
1889Tooth agenesisEnrichmentFGFR1, LRP6, RANBP2, SUMO1, TGFA0.76
1890Systemic lupus erythematosusEnrichmentFCGR2A, IL10, IRAK1, PDCD1, TLR70.76
1891Galloway-mowat syndromeEnrichmentNUP107, NUP1330.76
1892Migraine with or without aura 1EnrichmentESR1, NOTCH3, TAB20.74
1893Pectus excavatumEnrichmentPTPN11, SHOC2, TGFBR10.74
1894Gilbert syndromeEnrichmentSLCO1B1, UGT1A1, UGT1A40.74
1895Atrial heart septal defectEnrichmentABCC8, HDAC8, RPL50.74
1896Bilirubin metabolic disorderEnrichmentF12, UGT1A1, UGT1A40.74
1897Diabetes mellitusEnrichmentGCK, KCNJ11, PMM20.74
1898Interatrial communicationEnrichmentABCC8, HDAC8, RPL50.74
1899Charcot-marie-tooth diseaseEnrichmentCTDP1, DCTN1, DYNC1H1, LAMA2, LMNA, NAGLU, TFG, TTR0.73
1900Hyperaldosteronism, familial, type iEnrichmentCYP11B1, CYP11B20.72
1901Coloboma of optic nerveEnrichmentABCB6, FZD50.72
1902Kabuki syndrome 1EnrichmentBRCA2, KMT2D0.72
1903Wolf-hirschhorn syndromeEnrichmentCTBP1, NELFA0.72
1904Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH, PSEN10.72
1905Holoprosencephaly 1EnrichmentFGF8, FGFR10.72
1906Mucopolysaccharidosis, type iiiaEnrichmentIDS, SGSH0.72
1907Pseudoxanthoma elasticumEnrichmentABCC2, ABCC60.72
1908Wilms tumor 5EnrichmentBRAF, TRIM280.72
1909Anterior segment dysgenesis 5EnrichmentCOL4A1, CYP1B10.72
1910Megaloblastic anemiaEnrichmentAMN, CUBN0.72
1911Lipid metabolism disorderEnrichmentABCG5, ABCG80.72
1912Clear cell renal cell carcinomaEnrichmentATM, OGG10.72
191346,xy disorder of sex developmentEnrichmentADAMTS16, FGFR30.72
1914Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A, VHL0.72
1915Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A5, NUP930.72
1916Kallmann syndromeEnrichmentDUSP6, FGF17, FGF8, FGFR1, POLR2F0.71
1917Xeroderma pigmentosum, variant typeEnrichmentERCC2, ERCC30.69
1918Mccune-albright syndromeEnrichmentGNAS0.67
1919Dystonia 12EnrichmentATP1A30.67
1920Oculopharyngeal muscular dystrophy 1EnrichmentPABPN10.67
1921Pelvic organ prolapseEnrichmentTAB20.67
1922Retinal arteries, tortuosity ofEnrichmentCOL4A10.67
1923RetinoblastomaEnrichmentRB10.67
1924Pseudohypoaldosteronism, type iiaEnrichmentCUL30.67
1925Waardenburg syndrome, type 2aEnrichmentPOLR2F0.67
1926Juvenile polyposis syndromeEnrichmentSMAD40.67
1927Thrombocythemia 1EnrichmentCALR0.67
1928Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasiaEnrichmentCYBA0.67
1929Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG20.67
1930Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB40.67
1931Gillespie syndromeEnrichmentITPR10.67
1932Takayasu arteritisEnrichmentHLA-B0.67
1933Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL0.67
1934Mycosis fungoidesEnrichmentCD280.67
1935TelecanthusEnrichmentCOL5A20.67
1936Uvula, bifidEnrichmentUBB0.67
1937Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentTLR80.67
1938Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentGUCY2C0.67
1939Trichothiodystrophy 1, photosensitiveEnrichmentERCC20.67
1940Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX10.67
1941Pierpont syndromeEnrichmentTBL1XR10.67
1942Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK0.67
1943Transposition of the great arteries, dextro-loopedEnrichmentMED13L0.67
1944Cleft soft palateEnrichmentUBB0.67
1945Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA20.67
1946Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A0.67
1947Hepatitis c virusEnrichmentCCR50.67
1948Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB10.67
1949Brain small vessel disease 2EnrichmentCOL4A20.67
1950Woolly hair, autosomal recessive 3EnrichmentRB10.67
1951Microcephaly, postnatal progressive, with seizures and brain atrophyEnrichmentMED170.67
1952Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.67
1953Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR0.67
1954Miller-dieker lissencephaly syndromeEnrichmentYWHAE0.67
1955Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE0.67
1956Immunodeficiency 8 with lymphoproliferationEnrichmentCORO1A0.67
1957Immunodeficiency 28EnrichmentIFNGR20.67
1958Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB80.67
1959Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A10.67
1960Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A0.67
1961Exudative vitreoretinopathy 7EnrichmentCTNNB10.67
1962Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentVPS33B0.67
1963Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC0.67
1964Pilarowski-bjornsson syndromeEnrichmentCOL4A30.67
1965Intellectual developmental disorder, autosomal dominant 61EnrichmentMED130.67
1966Hypotrichosis 8EnrichmentRB10.67
1967Developmental and epileptic encephalopathy 65EnrichmentCYFIP20.67
1968Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A30.67
1969Agammaglobulinemia 1EnrichmentBTK0.67
1970Primary polycythemiaEnrichmentVHL0.67
1971Distal myopathyEnrichmentHNRNPA10.67
1972Coronin-1a deficiencyEnrichmentCORO1A0.67
1973Wieacker-wolff syndromeEnrichmentCCNH0.67
1974Poretti-boltshauser syndromeEnrichmentLAMA10.67
1975Torsion dystonia 1EnrichmentEIF2AK20.67
1976Proteosome-associated autoinflammatory syndromeEnrichmentPSMB40.67
1977Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A10.67
1978Frontometaphyseal dysplasiaEnrichmentMAP3K70.67
1979Moyamoya disease 2EnrichmentRNF2130.67
1980Pyloric stenosisEnrichmentMAP1B0.67
1981Hemoglobin e diseaseEnrichmentHBB0.67
1982Macrocytic anemiaEnrichmentRPL170.67
1983T-cell acute lymphoblastic leukemiaEnrichmentABL10.67
1984Intraocular pressure quantitative trait locusEnrichmentCREBBP0.67
1985Hematuria, benign familial, 2EnrichmentCOL4A30.67
1986Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR10.67
1987Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentIMPDH20.67
1988Arachnoid cystEnrichmentPALS10.67
1989Familial chilblain lupusEnrichmentSTING10.67
1990Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R0.67
1991Autoimmune polyendocrine syndrome type 1EnrichmentCYBA0.67
1992Cole-carpenter syndromeEnrichmentSEC24D0.67
1993Sickle cell-hemoglobin c diseaseEnrichmentHBB0.67
1994Spinocerebellar ataxia, autosomal recessive 29EnrichmentVPS410.67
1995Melanoma of soft tissueEnrichmentCREB10.67
1996Tricuspid valve insufficiencyEnrichmentPTPN110.67
1997Hemoglobin d diseaseEnrichmentHBB0.67
1998Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX10.67
1999Genetic atypical hemolytic-uremic syndromeEnrichmentC30.67
2000T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD2470.67
2001Delta beta-thalassemiaEnrichmentHBB0.67
2002Renal cell carcinomaEnrichmentMET0.67
2003Thyroid hemiagenesisEnrichmentPSMD30.67
2004Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY60.67
2005Unstable hemoglobin diseaseEnrichmentHBB0.67
2006Hemoglobin e/beta thalassemia diseaseEnrichmentHBB0.67
2007Lama2-related muscular dystrophyEnrichmentLAMA20.67
2008Saczary syndromeEnrichmentCD280.67
2009Digeorge syndromeEnrichmentCOMT, GP1BB, SEC24C0.66
2010Congenital long qt syndromeEnrichmentITPR3, PTPN11, SLC2A20.66
2011Semilobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, SHH0.65
2012Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP6, FGF17, FGF8, FGFR10.65
2013Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, CAST, DNMT3A, GNAS, MYH9, POMC, SDC3, SLC6A140.63
2014Esophageal cancerEnrichmentTGFBR2, TP530.61
2015Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentALG9, TSC20.61
2016Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B0.61
2017Fundus albipunctatusEnrichmentRDH5, RLBP10.61
2018Mitochondrial dna depletion syndrome 4aEnrichmentRANBP2, RLBP10.61
2019Thrombophilia due to thrombin defectEnrichmentF2, FGA0.61
2020Imerslund-grasbeck syndrome 1EnrichmentAMN, CUBN0.61
2021Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB30.61
2022Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA0.61
2023Waardenburg syndrome, type 2eEnrichmentKITLG, POLR2F0.61
2024Multiple enchondromatosis, maffucci typeEnrichmentIDH1, VHL0.61
2025Semantic dementiaEnrichmentCHMP2B, PSEN10.61
2026Polycystic kidney disease 1EnrichmentALG9, TSC20.61
2027Bartter diseaseEnrichmentSLC12A1, SLC12A30.61
2028Focal epilepsyEnrichmentMECP2, SNAP250.61
2029Overgrowth syndromeEnrichmentMTOR, PIK3R10.61
2030Cri-du-chat syndromeEnrichmentSEMA5A0.59
2031Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A10.59
2032Cafe-au-lait spots, multipleEnrichmentNF10.59
2033Melanoma-astrocytoma syndromeEnrichmentCDKN2A0.59
2034Exostoses, multiple, type iiEnrichmentEXT20.59
2035Wagner vitreoretinopathyEnrichmentVCAN0.59
2036Maturity-onset diabetes of the young, type 1EnrichmentGCK0.59
2037Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB0.59
2038Glaucoma 1, open angle, aEnrichmentCYP1B10.59
2039Glucocorticoid deficiency 1EnrichmentMC2R0.59
2040Otodental dysplasiaEnrichmentFGF30.59
2041Adrenocortical carcinoma, hereditaryEnrichmentTP530.59
2042Nephrolithiasis, calcium oxalate, 1EnrichmentIDUA0.59
2043Corticosterone methyloxidase type i deficiencyEnrichmentCYP11B20.59
2044Costello syndromeEnrichmentHRAS0.59
2045Fanconi-bickel syndromeEnrichmentSLC2A20.59
2046Van buchem diseaseEnrichmentLRP50.59
2047Alpha-methylacetoacetic aciduriaEnrichmentACAT10.59
2048Ichthyosis, congenital, autosomal recessive 4bEnrichmentABCA120.59
2049Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B0.59
2050TrichomegalyEnrichmentFGF50.59
2051Mucopolysaccharidosis, type iiicEnrichmentHGSNAT0.59
2052Glycogen storage disease 0, liverEnrichmentGYS20.59
2053Ectopia lentis et pupillaeEnrichmentADAMTSL40.59
2054Carbamoyl phosphate synthetase i deficiency, hyperammonemia due toEnrichmentABCA30.59
2055Tangier diseaseEnrichmentABCA10.59
2056Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK30.59
2057Bruck syndrome 1EnrichmentCOL1A20.59
20583-methylcrotonyl-coa carboxylase 1 deficiencyEnrichmentMCCC10.59
2059Methylmalonic aciduria, cblb typeEnrichmentMMAB0.59
2060Robinow-sorauf syndromeEnrichmentTWIST10.59
2061Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB30.59
2062Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA0.59
2063Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B0.59
2064Muscular dystrophy-dystroglycanopathy , type a, 3EnrichmentPOMGNT10.59
2065Mucopolysaccharidosis, type iiibEnrichmentNAGLU0.59
2066Spermatogenic failure, y-linked, 2EnrichmentCFTR0.59
2067Galactosemia iEnrichmentGALT0.59
2068Dystonia 9EnrichmentSLC2A10.59
2069Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP20.59
2070Pulmonary hypoplasia, primaryEnrichmentFGF100.59
2071AdrenoleukodystrophyEnrichmentABCD10.59
2072Schneckenbecken dysplasiaEnrichmentSLC35D10.59
2073Ichthyosis, congenital, autosomal recessive 4aEnrichmentABCA120.59
2074Histiocytosis-lymphadenopathy plus syndromeEnrichmentSLC29A30.59
2075Transcobalamin ii deficiencyEnrichmentTCN20.59
2076Alzheimer disease 3EnrichmentPSEN10.59
2077Craniosynostosis with ectopia lentisEnrichmentADAMTSL40.59
2078Panbronchiolitis, diffuseEnrichmentMUC5B0.59
2079Cardiomyopathy, dilated, 1oEnrichmentABCC90.59
20803mc syndrome 2EnrichmentSLC26A20.59
2081Stargardt disease 3EnrichmentABCA40.59
2082Rothmund-thomson syndrome, type 2EnrichmentDNA20.59
2083Ehlers-danlos syndrome, musculocontractural type, 1EnrichmentCHST140.59
2084Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R50.59
2085Thrombotic thrombocytopenic purpura, hereditaryEnrichmentADAMTS130.59
2086Alpha-thalassemia myelodysplasia syndromeEnrichmentATRX0.59
208746,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH0.59
2088Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentCYP2R10.59
2089Hurler-scheie syndromeEnrichmentIDUA0.59
2090Corticosterone methyloxidase type ii deficiencyEnrichmentCYP11B20.59
2091Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA0.59
2092Fanconi anemia, complementation group nEnrichmentPALB20.59
2093Hypercalcemia, infantile, 1EnrichmentCYP24A10.59
2094Premature ovarian failure 3EnrichmentAGO20.59
2095Congenital disorder of glycosylation, type ijEnrichmentDPAGT10.59
2096Congenital disorder of glycosylation, type ifEnrichmentMPDU10.59
2097Pick disease of brainEnrichmentPSEN10.59
2098Piebald traitEnrichmentKIT0.59
2099Welander distal myopathyEnrichmentSQSTM10.59
2100Microvascular complications of diabetes 5EnrichmentTGFBR20.59
2101Corneal dystrophy, congenital stromalEnrichmentDCN0.59
2102Cholestasis, benign recurrent intrahepatic, 2EnrichmentABCB110.59
2103Heart-hand syndrome, slovenian typeEnrichmentLMNA0.59
2104LymphangioleiomyomatosisEnrichmentTSC20.59
2105Aural atresia, congenitalEnrichmentFGFR20.59
2106Glut1 deficiency syndrome 1EnrichmentSLC2A10.59
2107Proximal renal tubular acidosis-ocular anomaly syndromeEnrichmentSLC4A40.59
2108Complement component c1s deficiencyEnrichmentKMT2D0.59
2109Osteogenesis imperfecta, type xvEnrichmentGBE10.59
2110Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA0.59
2111Albinism, oculocutaneous, type viEnrichmentSLC24A50.59
2112Melanoma, cutaneous malignant 6EnrichmentKLC10.59
2113Primary lateral sclerosis, juvenileEnrichmentERLIN20.59
2114Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF30.59
2115Solitary median maxillary central incisorEnrichmentSHH0.59
2116Bone marrow failure syndrome 2EnrichmentGCK0.59
2117Melanoma, cutaneous malignant 2EnrichmentCDKN2A0.59
2118Familial adenomatous polyposis 2EnrichmentMUTYH0.59
2119Hypouricemia, renal, 2EnrichmentSLC2A90.59
2120Roifman-chitayat syndromeEnrichmentPIK3CD0.59
2121Mononeuropathy of the median nerve, mildEnrichmentTTR0.59
2122Glycogen storage disease xvEnrichmentGYG10.59
2123Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsEnrichmentCAST0.59
2124Adenine phosphoribosyltransferase deficiencyEnrichmentAPRT0.59
2125Neutropenia, severe congenital, 4, autosomal recessiveEnrichmentG6PC30.59
2126Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentCDKN1C0.59
2127Myasthenic syndrome, congenital, 13EnrichmentDPAGT10.59
2128Adams-oliver syndrome 5EnrichmentNOTCH10.59
2129Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA0.59
2130Muscular dystrophy-dystroglycanopathy , type c, 12EnrichmentPOMT10.59
2131Monocarboxylate transporter 1 deficiencyEnrichmentSLC16A10.59
2132Homocystinuria-megaloblastic anemia, cble typeEnrichmentMTRR0.59
2133Myasthenic syndrome, congenital, 22EnrichmentSLC3A10.59
2134Retinitis pigmentosa 73EnrichmentHGSNAT0.59
2135Myasthenic syndrome, congenital, 15EnrichmentALG140.59
2136Hypoglycemia, leucine-inducedEnrichmentABCC80.59
2137Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD0.59
2138Methionine adenosyltransferase i/iii deficiencyEnrichmentMAT1A0.59
2139Hartnup disorderEnrichmentSLC6A190.59
2140Charcot-marie-tooth disease, axonal, type 2vEnrichmentNAGLU0.59
2141Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPAH0.59
2142Cholestasis, progressive familial intrahepatic, 4EnrichmentABCB110.59
2143Scheie syndromeEnrichmentIDUA0.59
2144Congenital disorder of glycosylation, type itEnrichmentPGM10.59
2145GalactosialidosisEnrichmentCTSA0.59
2146Mucopolysaccharidosis, type viiEnrichmentGUSB0.59
2147Muscular dystrophy-dystroglycanopathy , type b, 3EnrichmentPOMGNT10.59
2148Muscular dystrophy-dystroglycanopathy , type c, 2EnrichmentPOMT20.59
2149Angioma, tuftedEnrichmentKDR0.59
2150Muscular dystrophy-dystroglycanopathy , type a, 2EnrichmentPOMT20.59
2151Fatty liver disease 1EnrichmentATG70.59
2152Pancreatic cancer 3EnrichmentPALB20.59
2153Choanal atresia, posteriorEnrichmentKMT2D0.59
2154Noonan syndrome 8EnrichmentPIK3CA0.59
2155Ectopia lentis 2, isolated, autosomal recessiveEnrichmentADAMTSL40.59
2156Lymphoma, hodgkin, classicEnrichmentTP530.59
2157Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN10.59
2158Atrial fibrillation, familial, 12EnrichmentABCC90.59
2159Diabetes mellitus, transient neonatal, 2EnrichmentABCC80.59
2160Myasthenic syndrome, congenital, 12EnrichmentGFPT10.59
2161Multiple endocrine neoplasia, type ivEnrichmentCDKN1B0.59
2162Bleeding disorder, platelet-type, 14EnrichmentTBXAS10.59
2163Albinism, oculocutaneous, type iaEnrichmentNOX40.59
2164Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentRBP40.59
2165Polyglucosan body myopathy 2EnrichmentGYG10.59
2166Phoar2-enteropathy syndromeEnrichmentSLCO2A10.59
2167Anterior segment dysgenesis 6EnrichmentCYP1B10.59
2168Mitochondrial short-chain enoyl-coa hydratase 1 deficiencyEnrichmentECHS10.59
2169Houge-janssens syndrome 1EnrichmentPPP2R5D0.59
2170Adams-oliver syndrome 3EnrichmentRBPJ0.59
2171Hermansky-pudlak syndrome 3EnrichmentCP0.59
2172Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR20.59
2173Cardiomyopathy, dilated, 1dEnrichmentLMNA0.59
2174Bartter syndrome, type 1, antenatalEnrichmentSLC12A10.59
2175Cholestasis, progressive familial intrahepatic, 2EnrichmentABCB110.59
2176TrimethylaminuriaEnrichmentFMO30.59
2177Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM10.59
2178Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A10.59
2179Spastic paraplegia 5a, autosomal recessiveEnrichmentCYP7B10.59
2180Restrictive dermopathy 2EnrichmentLMNA0.59
2181Waardenburg syndrome, type 2fEnrichmentKITLG0.59
2182Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT50.59
2183Sweeney-cox syndromeEnrichmentTWIST10.59
2184Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA0.59
2185Deafness, autosomal recessive 109EnrichmentESRP10.59
2186HypersulfaturiaEnrichmentIDUA0.59
2187Alpha-thalassemia/impaired intellectual development syndrome, x-linkedEnrichmentATRX0.59
2188Epidermolysis bullosa, junctional 5a, intermediateEnrichmentGALK10.59
2189Congenital disorder of deglycosylation 2EnrichmentNEIL10.59
2190Fanconi anemia, complementation group sEnrichmentBRCA10.59
2191Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP10.59
2192Cardiac valvular dysplasia, x-linkedEnrichmentATM0.59
2193Gm2-gangliosidosis, ab variantEnrichmentHEXA0.59
2194Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO10.59
2195Sitosterolemia 2EnrichmentABCG50.59
2196Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL10.59
2197Cebalid syndromeEnrichmentMTOR0.59
2198Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentCUX10.59
2199Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF10.59
2200Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP20.59
2201Pancreatic cancer 4EnrichmentBRCA10.59
2202Congenital disorder of glycosylation, type igEnrichmentALG120.59
2203Ovarian cancer 1EnrichmentBRIP10.59
2204Hermansky-pudlak syndrome 2EnrichmentAP3B10.59
2205Wilson-turner syndromeEnrichmentHDAC80.59
2206Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A10.59
2207Left ventricular noncompaction 7EnrichmentMIB10.59
2208Glycogen storage disease 0, muscleEnrichmentGYS10.59
2209Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B0.59
2210Muscular dystrophy-dystroglycanopathy , type b, 2EnrichmentPOMT20.59
2211Congenital disorder of glycosylation, type iqEnrichmentSRD5A30.59
2212Factor xi deficiencyEnrichmentF110.59
2213Split hand-foot malformationEnrichmentFGFR20.59
2214Hereditary combined deficiency of vitamin k-dependent clotting factorsEnrichmentGGCX0.59
2215Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT10.59
2216Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A0.59
2217Transaldolase deficiencyEnrichmentTALDO10.59
2218X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP20.59
2219Hematologic cancerEnrichmentETV60.59
2220Spinocerebellar ataxia, autosomal recessive 31EnrichmentATG70.59
2221Renal tubular acidosisEnrichmentSLC4A10.59
2222Seizures, scoliosis, and macrocephaly/microcephaly syndromeEnrichmentEXT20.59
2223Cone-rod dystrophy 3EnrichmentABCA40.59
2224Depressive disorderEnrichmentNOTCH30.59
2225Short-rib thoracic dysplasia 15 with polydactylyEnrichmentABCG50.59
2226Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM10.59
2227Congenital fibrosarcomaEnrichmentTP530.59
2228High grade gliomaEnrichmentATM0.59
2229Inflammatory bowel disease 28EnrichmentIL10RA0.59
2230Stickler syndrome, type iiEnrichmentCOL1A10.59
2231Temtamy preaxial brachydactyly syndromeEnrichmentCHSY10.59
2232Li-fraumeni syndrome 1EnrichmentTP530.59
2233Thrombotic thrombocytopenic purpuraEnrichmentADAMTS130.59
2234SarcomaEnrichmentTP530.59
2235Fanconi anemia, complementation group d1EnrichmentBRCA20.59
2236Neurogenic bladderEnrichmentCLCN60.59
2237Witteveen-kolk syndromeEnrichmentSIN3A0.59
2238Congenital dyserythropoietic anemiaEnrichmentIRAK40.59
2239Primary hypertrophic osteoarthropathyEnrichmentSLCO2A10.59
2240Respiratory system diseaseEnrichmentCLCN60.59
2241Hyperinsulinemic hypoglycemia, familial, 7EnrichmentSLC16A10.59
2242Diabetes mellitus, permanent neonatal, 3EnrichmentABCC80.59
2243Myopathy, epilepsy, and progressive cerebral atrophyEnrichmentALG140.59
2244Angiocentric gliomaEnrichmentQKI0.59
2245Hereditary angioedemaEnrichmentF120.59
2246Bardet-biedl syndrome 9EnrichmentNF10.59
2247Retinitis pigmentosa 76EnrichmentPOMGNT10.59
2248Periampullary adenomaEnrichmentAPC0.59
2249Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC0.59
2250Tatton-brown-rahman syndromeEnrichmentDNMT3A0.59
2251Hodgkin's lymphomaEnrichmentTP530.59
2252Autosomal dominant primary microcephalyEnrichmentLMNB10.59
2253Calcium oxalate nephrolithiasisEnrichmentIDUA0.59
2254T-cell prolymphocytic leukemiaEnrichmentATM0.59
2255Paget's disease of boneEnrichmentSQSTM10.59
2256Renal tubular acidosis, distal, 4, with hemolytic anemiaEnrichmentSLC4A10.59
2257Smith-kingsmore syndromeEnrichmentMTOR0.59
2258Primary trimethylaminuriaEnrichmentFMO30.59
2259Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA10.59
2260Alpha thalassemia-x-linked intellectual disability syndromeEnrichmentATRX0.59
2261Mismatch repair cancer syndrome 3EnrichmentMSH60.59
2262Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS20.59
2263Houge-janssens syndrome 3EnrichmentPPP2CA0.59
2264Interfrontal craniofaciosynostosisEnrichmentFGFR10.59
2265Congenital muscular dystrophy-dystroglycanopathy type a3EnrichmentPOMGNT10.59
2266Severe congenital neutropenia 4EnrichmentG6PC30.59
2267Peritoneum cancerEnrichmentBRCA10.59
2268Amyloidosis, hereditary systemic 3EnrichmentAPOA10.59
2269Progressive retinal dystrophy due to retinol transport defectEnrichmentRBP40.59
2270Wagner diseaseEnrichmentVCAN0.59
2271GalactosemiaEnrichmentGALT0.59
2272Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD190.59
2273Familial partial lipodystrophyEnrichmentLMNA0.59
2274Autosomal dominant nonsyndromic deafnessEnrichmentFGFR20.59
2275Arterial calcification of infancyEnrichmentABCC60.59
2276Primary congenital glaucomaEnrichmentCYP1B10.59
2277Familial hypoaldosteronismEnrichmentCYP11B20.59
2278Vacterl with hydrocephalusEnrichmentPTEN0.59
2279Posterior hypospadiasEnrichmentMAMLD10.59
2280Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS10.59
2281Autosomal recessive proximal renal tubular acidosisEnrichmentSLC4A40.59
2282HyperinsulinismEnrichmentKCNJ110.59
2283X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMAMLD10.59
2284Ketoacidosis due to monocarboxylate transporter-1 deficiencyEnrichmentSLC16A10.59
2285Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaEnrichmentSEL1L0.59
2286Dentinogenesis imperfectaEnrichmentCOL1A20.59
2287GlycoproteinosisEnrichmentNEU10.59
2288B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA0.59
2289OsteosclerosisEnrichmentLRP50.59
2290Non-syndromic sagittal craniosynostosisEnrichmentTWIST10.59
2291Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT30.59
2292Dominant hypophosphatemia with nephrolithiasis or osteoporosisEnrichmentSLC34A10.59
2293B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT0.59
2294Skeletal muscle diseaseEnrichmentKIF5B0.59
2295Juvenile polyposis of infancyEnrichmentPTEN0.59
2296Charcot-marie-tooth disease type 2b1EnrichmentLMNA0.59
2297Non-syndromic syndactylyEnrichmentAGGF10.59
2298Isolated radial hemimeliaEnrichmentSHH0.59
2299HypokalemiaEnrichmentSLC12A30.59
2300Combined deficiency of sialidase and beta galactosidaseEnrichmentCTSA0.59
2301Progressive bulbar palsyEnrichmentMECP20.59
2302Dpagt1-congenital disorder of glycosylationEnrichmentDPAGT10.59
2303Intestinal obstructionEnrichmentSLC26A30.59
2304Methionine adenosyltransferase deficiencyEnrichmentMAT1A0.59
2305Laron syndrome with immunodeficiencyEnrichmentSTAT5B0.59
2306Early-onset familial hypoaldosteronismEnrichmentCYP11B20.59
2307Wooly hair nevusEnrichmentHRAS0.59
2308BruxismEnrichmentMECP20.59
2309Autosomal recessive limb-girdle muscular dystrophyEnrichmentANO5, POMGNT1, POMT1, POMT20.59
2310Aortic valve disease 1EnrichmentNOTCH1, SOS1, TAB20.59
2311Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A2, PPIB0.59
2312Alzheimer's diseaseEnrichmentAPP, PSEN1, VCP0.59
2313Chronic kidney diseaseEnrichmentCOL4A4, COL4A5, CUBN0.59
2314Kaposi sarcomaEnrichmentIL60.57
2315Chorea, benign hereditaryEnrichmentADCY50.57
2316Isolated growth hormone deficiency, type iiEnrichmentMED130.57
2317Erythrocytosis, familial, 1EnrichmentJAK20.57
2318Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL20.57
2319Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.57
2320Anemia, autoimmune hemolyticEnrichmentTLR80.57
2321Temporal arteritisEnrichmentHLA-B0.57
2322Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.57
2323Erythrocytosis, familial, 2EnrichmentVHL0.57
2324Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.57
2325Pseudohypoparathyroidism, type ibEnrichmentGNAS0.57
2326Developmental and epileptic encephalopathy 2EnrichmentSNAP250.57
2327Auriculocondylar syndrome 1EnrichmentGNAI30.57
2328Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.57
2329Carney complex variantEnrichmentPRKAR1A0.57
2330Sickle cell diseaseEnrichmentHBB0.57
2331Retinitis pigmentosa 26EnrichmentITGA40.57
2332Beta-thalassemia, dominant inclusion body typeEnrichmentHBB0.57
2333Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH20.57
2334Spinocerebellar ataxia 15EnrichmentITPR10.57
2335Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A0.57
2336Dentin dysplasia, type iEnrichmentVPS4B0.57
2337Meconium ileusEnrichmentGUCY2C0.57
2338Achromatopsia 4EnrichmentGNAI30.57
2339Alazami syndromeEnrichmentCTNNB10.57
2340Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A0.57
2341Erythrocytosis, familial, 6EnrichmentHBB0.57
2342Beta-thalassemia intermediaEnrichmentHBB0.57
2343EnophthalmosEnrichmentCSNK2B0.57
2344SyndactylyEnrichmentCSNK2B0.57
2345Generalized epilepsyEnrichmentSTX1B0.57
2346Ectodermal dysplasiaEnrichmentRANBP20.57
2347Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC0.57
2348HemoglobinopathyEnrichmentHBB0.57
2349Hydrocephalus, congenital, 2, with or without brain or eye anomaliesEnrichmentANO60.57
2350Hemoglobin c diseaseEnrichmentHBB0.57
2351Knobloch syndromeEnrichmentPAK20.57
2352Familial or sporadic hemiplegic migraineEnrichmentATP1A20.57
2353Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeEnrichmentHBB0.57
2354Immunodeficiency by defective expression of mhc class iEnrichmentB2M0.57
2355Pediatric systemic lupus erythematosusEnrichmentIRAK10.57
2356Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.57
2357Methemoglobinemia, beta-globin typeEnrichmentHBB0.57
2358Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A60.57
2359Isolated congenitally uncorrected transposition of the great arteriesEnrichmentMED13L0.57
2360Familial sick sinus syndromeEnrichmentGNB20.57
2361Pseudomyogenic hemangioendotheliomaEnrichmentACTB0.57
2362ScoliosisEnrichmentCREBBP, MED13L, PTPN110.56
2363Williams-beuren syndromeEnrichmentCDKN1C, RFC2, STX1A, VPS37D0.54
2364Heart diseaseEnrichmentABL1, CREBBP0.54
2365Generalized epilepsy with febrile seizures plusEnrichmentANO4, STX1B0.54
2366Isolated macular dystrophyEnrichmentCOL4A5, ITGA40.54
2367Developmental and epileptic encephalopathyEnrichmentANO4, SEC24C, SNAP25, ST3GAL30.53
2368Familial isolated dilated cardiomyopathyEnrichmentABCC9, DOLK, LAMA4, LMNA, PSEN1, PSEN2, RAF1, RPL3L, VCL0.53
2369Gastroesophageal refluxEnrichmentABCC8, COL5A10.52
2370Spastic paraplegia 4, autosomal dominantEnrichmentFGG, GNAS0.52
2371Fanconi anemia, complementation group cEnrichmentABCC9, HDAC80.52
2372Orthostatic intoleranceEnrichmentCOL5A1, SLC6A20.52
2373Congenital muscular dystrophyEnrichmentLAMA2, LMNA0.52
2374HypothyroidismEnrichmentGNB1, SLC33A10.52
2375MyocarditisEnrichmentABCD1, LMNA0.52
2376Homozygous familial hypercholesterolemiaEnrichmentABCG5, ABCG80.52
2377Hypoplastic left heart syndromeEnrichmentGJA1, NOTCH10.52
2378StrabismusEnrichmentGNB1, KMT2D, MED13L, PTPN11, SLC2A10.52
2379Cataract 6, multiple typesEnrichmentCHMP4B0.49
2380Polycystic liver disease 1 with or without kidney cystsEnrichmentPRKCSH0.49
2381Dementia, lewy bodyEnrichmentVCP0.49
2382Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentVPS33B0.49
2383Hemolytic uremic syndrome, atypical 1EnrichmentC3AR10.49
2384Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.49
2385Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.49
2386Rheumatoid arthritis, systemic juvenileEnrichmentIL60.49
2387Insulin-like growth factor iEnrichmentIGF1R0.49
2388Knobloch syndrome 1EnrichmentPAK20.49
2389Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentMASP20.49
2390Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.49
2391Myasthenic syndrome, congenital, 8EnrichmentAGRN0.49
2392Rubinstein-taybi syndrome 2EnrichmentEP3000.49
2393Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA20.49
2394Autosomal recessive cerebellar ataxiaEnrichmentANO100.49
2395Spastic diplegiaEnrichmentIFIH10.49
2396Polycystic liver disease 1EnrichmentPRKCSH0.49
2397Epidermolysis bullosaEnrichmentLAMB30.49
2398Cleft upper lipEnrichmentGJA10.49
2399Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.49
2400Female infertility due to oocyte meiotic arrestEnrichmentTUBB80.49
2401Diffuse cutaneous systemic sclerosisEnrichmentCAV10.49
2402Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD40.49
2403Coloboma of maculaEnrichmentABCB6, FZD5, RBP40.47
2404HydrocephalusEnrichmentFGFR2, PDGFRB, POMGNT10.47
2405Autosomal recessive congenital ichthyosisEnrichmentABCA12, CYP4F22, SLC27A40.47
2406Autosomal dominant polycystic kidney diseaseEnrichmentALG9, GANAB, TSC20.47
2407Septopreoptic holoprosencephalyEnrichmentDLL1, FGF8, SHH0.47
2408Midline interhemispheric variant of holoprosencephalyEnrichmentDLL1, FGF8, SHH0.47
2409Eye diseaseEnrichmentABCA4, ABCC6, LRAT, RBP4, RDH12, RLBP10.47
2410Neurofibromatosis, type iEnrichmentNF1, SPRED10.45
2411Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRCA2, BRIP10.45
2412Charge syndromeEnrichmentEP300, KMT2D0.45
2413Myoclonic-atonic epilepsyEnrichmentAP2M1, SLC2A10.45
2414Juvenile amyotrophic lateral sclerosisEnrichmentERLIN1, SIGMAR10.45
2415Brachydactyly, type a1EnrichmentIHH0.45
2416AchondroplasiaEnrichmentFGFR30.45
2417Craniosynostosis 1EnrichmentTWIST10.45
2418Macular degeneration, age-related, 2EnrichmentABCA40.45
2419LaryngomalaciaEnrichmentMECP20.45
2420Night blindness, congenital stationary, autosomal dominant 2EnrichmentSLC24A10.45
2421Myotonia congenita, autosomal dominantEnrichmentFAM131B0.45
2422Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR10.45
2423Thyroid carcinoma, familial medullaryEnrichmentESR20.45
2424Alagille syndrome 1EnrichmentJAG10.45
2425Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiencyEnrichmentCYP11B10.45
2426Retinitis pigmentosa 1EnrichmentABCA40.45
2427Arterial tortuosity syndromeEnrichmentSLC2A100.45
2428Agenesis of the corpus callosum with peripheral neuropathyEnrichmentSLC12A60.45
2429Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsEnrichmentATRIP0.45
2430Gm1-gangliosidosis, type iEnrichmentGLB10.45
2431Hypophosphatemic rickets, autosomal dominantEnrichmentFGF230.45
2432Lysinuric protein intoleranceEnrichmentSLC7A70.45
2433Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathyEnrichmentFDX20.45
2434Dubin-johnson syndromeEnrichmentABCC20.45
2435Mucopolysaccharidosis, type ivbEnrichmentGLB10.45
2436Cantu syndromeEnrichmentABCC90.45
2437DysosteosclerosisEnrichmentSLC29A30.45
2438Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiencyEnrichmentCYP17A10.45
2439Myotonia congenita, autosomal recessiveEnrichmentFAM131B0.45
24403-methylglutaconic aciduria, type iEnrichmentAUH0.45
2441Bietti crystalline corneoretinal dystrophyEnrichmentABCA40.45
2442Carnitine deficiency, systemic primaryEnrichmentSLC22A50.45
2443Gm1-gangliosidosis, type iiEnrichmentGLB10.45
2444Syndactyly, type ivEnrichmentSHH0.45
2445Tuberous sclerosis 1EnrichmentTSC20.45
2446Pyruvate carboxylase deficiencyEnrichmentPC0.45
2447Watson syndromeEnrichmentNF10.45
2448Wilson diseaseEnrichmentALG110.45
2449Mucopolysaccharidosis, type iiEnrichmentIDS0.45
2450Periventricular nodular heterotopia 1EnrichmentVWF0.45
2451Pituitary hormone deficiency, combined, 2EnrichmentPAH0.45
2452Partington syndromeEnrichmentPOLA10.45
2453Microphthalmia, syndromic 9EnrichmentSTRA60.45
2454Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC20.45
2455Lesch-nyhan syndromeEnrichmentHPRT10.45
2456Menkes diseaseEnrichmentEIF2AK30.45
2457Restrictive dermopathy 1EnrichmentLMNA0.45
2458Retinitis pigmentosa 19EnrichmentABCA40.45
2459Osteopetrosis, autosomal dominant 1EnrichmentLRP50.45
2460Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC0.45
2461Hyperuricemia, hprt-relatedEnrichmentHPRT10.45
2462Chilblain lupus 1EnrichmentATRIP0.45
2463Glut1 deficiency syndrome 2EnrichmentSLC2A10.45
2464Spastic paraplegia 7, autosomal recessiveEnrichmentMUTYH0.45
2465Body mass index quantitative trait locus 12EnrichmentCAST0.45
2466Aromatase excess syndromeEnrichmentCYP19A10.45
2467Nonaka myopathyEnrichmentGNE0.45
2468Leber congenital amaurosis 13EnrichmentRDH120.45
2469Hypotonia-cystinuria syndromeEnrichmentSLC3A10.45
2470Encephalopathy, acute, infection-induced 1EnrichmentUNC93B10.45
2471Neurofibromatosis, familial spinalEnrichmentNF10.45
2472Estrogen resistanceEnrichmentESR10.45
2473Hurler syndromeEnrichmentIDUA0.45
2474Caffey diseaseEnrichmentCOL1A10.45
2475Lipodystrophy, familial partial, type 2EnrichmentLMNA0.45
2476Muscular dystrophy-dystroglycanopathy , type c, 3EnrichmentPOMGNT10.45
2477Tuberous sclerosis 2EnrichmentTSC20.45
2478Thrombocytopenia 5EnrichmentETV60.45
2479Cenani-lenz syndactyly syndromeEnrichmentAPC0.45
2480Gm1-gangliosidosis, type iiiEnrichmentGLB10.45
2481Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentABCD10.45
2482Congenital disorder of glycosylation, type ipEnrichmentALG110.45
2483Weill-marchesani syndrome 4EnrichmentADAMTS170.45
2484Breast-ovarian cancer, familial 3EnrichmentRAD51C0.45
2485Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN10.45
2486Neuropathy, hereditary sensory, type ieEnrichmentDNMT10.45
2487Breast-ovarian cancer, familial 4EnrichmentRAD51D0.45
2488Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA0.45
2489Tumor predisposition syndrome 1EnrichmentBRCA20.45
2490Fanconi anemia, complementation group oEnrichmentRAD51C0.45
2491Lynch syndrome 5EnrichmentMSH60.45
2492Proprotein convertase 1/3 deficiencyEnrichmentCAST0.45
2493Familial adenomatous polyposis 4EnrichmentMSH30.45
2494Microcephaly, developmental delay, and brittle hair syndromeEnrichmentCARS10.45
2495Auditory neuropathy and optic atrophyEnrichmentFDXR0.45
2496Breast-ovarian cancer, familial 5EnrichmentPALB20.45
2497Hypertrophic osteoarthropathy, primary, autosomal recessive, 1EnrichmentSLCO2A10.45
2498Charcot-marie-tooth disease, axonal, type 2iiEnrichmentSLC12A60.45
2499Tay-sachs diseaseEnrichmentHEXA0.45
2500Proteinuria, chronic benignEnrichmentCUBN0.45
2501Ehlers-danlos syndrome, classic-like, 3EnrichmentTHBS20.45
2502Weill-marchesani syndrome 1EnrichmentADAMTS100.45
2503Hereditary spastic paraplegia 56EnrichmentCYP2U10.45
2504Cutis laxa, autosomal recessive, type ibEnrichmentGBE10.45
2505Multiple mitochondrial dysfunctions syndrome 9bEnrichmentFDXR0.45
2506Koolen-de vries syndromeEnrichmentATM0.45
2507Hyper ige syndromeEnrichmentSTAT30.45
2508High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC0.45
2509Polycystic kidney disease 4EnrichmentSHOC20.45
2510Chilblain lupusEnrichmentATRIP0.45
2511Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A10.45
2512Familial renal glucosuriaEnrichmentSLC5A20.45
2513Isolated ectopia lentisEnrichmentADAMTSL40.45
2514Hennekam syndromeEnrichmentADAMTS30.45
2515Hyperinsulinemic hypoglycemiaEnrichmentABCC80.45
2516Gm1 gangliosidosisEnrichmentGLB10.45
2517Nail diseaseEnrichmentFZD60.45
2518Xanthinuria, type iiEnrichmentTSC20.45
2519Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH0.45
2520Cellular ependymomaEnrichmentMSH20.45
2521Tanycytic ependymomaEnrichmentMSH20.45
2522Papillary ependymomaEnrichmentMSH20.45
2523Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticumEnrichmentCYP2U10.45
2524Aromatase deficiencyEnrichmentCYP19A10.45
2525Deficiency of steroid 11-beta-monooxygenaseEnrichmentCYP11B10.45
2526Nephrogenic diabetes insipidusEnrichmentAVPR20.45
2527Brain cancerEnrichmentNF10.45
2528Laryngeal squamous cell carcinomaEnrichmentPTEN0.45
25293-methylglutaconic aciduriaEnrichmentAUH0.45
2530Bap1 tumor predisposition syndromeEnrichmentBRCA20.45
2531Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA10.45
2532Restrictive dermopathyEnrichmentLMNA0.45
2533Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentABCD10.45
2534Lessel-kreienkamp syndromeEnrichmentAGO20.45
2535Childhood apraxia of speechEnrichmentRFC30.45
2536Hemolytic disease of fetus and newborn, rh-inducedEnrichmentRHAG0.45
2537Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentMSH60.45
2538Bleeding disorder, platelet-type, 24EnrichmentITGB30.45
2539Cap myopathyEnrichmentTPM30.45
2540Age related macular degenerationEnrichmentABCA40.45
2541Mixed phenotype acute leukemia with tEnrichmentFLT30.45
2542Clear cell ependymomaEnrichmentMSH20.45
2543Geleophysic dysplasiaEnrichmentADAMTSL20.45
2544Atypical hypotonia-cystinuria syndromeEnrichmentSLC3A10.45
2545EnchondromatosisEnrichmentIDH10.45
2546Musculocontractural ehlers-danlos syndromeEnrichmentCHST140.45
2547Testicular cancerEnrichmentFGFR30.45
2548Cerebral sinovenous thrombosisEnrichmentF20.45
2549Mucopolysaccharidosis with skin involvementEnrichmentIDS0.45
2550Apc-associated polyposis conditionsEnrichmentAPC0.45
2551Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC0.45
2552Congenital cornea planaEnrichmentKERA0.45
2553Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MAP1B, MYH9, MYO1C, REST0.44
2554Alzheimer disease, familial, 1EnrichmentAPP, VCP0.42
2555Hypertension, essentialEnrichmentATP1B1, GNB30.42
2556Hermansky-pudlak syndrome 1EnrichmentAP3B1, CP, ETV60.42
2557Developmental dysplasia of the hip 1EnrichmentPSMC30.42
2558Melanoma, uvealEnrichmentCYSLTR20.42
2559Weyers acrofacial dysostosisEnrichmentCTNNB10.42
2560Cerebrooculofacioskeletal syndrome 1EnrichmentERCC20.42
2561Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.42
2562Moyamoya disease 1EnrichmentRNF2130.42
2563Type 1 diabetes mellitusEnrichmentIL60.42
2564Waardenburg syndrome, type 4aEnrichmentPOLR2F0.42
2565AnxietyEnrichmentPALS10.42
2566Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.42
2567Basal cell carcinoma 1EnrichmentCCNH0.42
2568Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR10.42
25693mc syndromeEnrichmentMASP10.42
2570Pain disorderEnrichmentCOL5A10.42
2571Early myoclonic encephalopathyEnrichmentTUBA1A0.42
2572Limited sclerodermaEnrichmentCAV10.42
2573Waardenburg syndromeEnrichmentPOLR2F0.42
2574Kidney clear cell sarcomaEnrichmentYWHAE0.42
2575Cleft lip with or without cleft palateEnrichmentCTNND10.42
2576Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentC30.42
2577Brittle bone disorderEnrichmentCOL1A1, COL1A2, LRP5, PPIB0.41
2578Congenital stationary night blindnessEnrichmentABCA4, GNB3, RDH5, SLC24A10.41
2579Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCHMP2B, DCTN1, ERBB4, HNRNPA1, PSEN1, SQSTM1, TAF15, TBK1, VCP0.40
2580Heart, malformation ofEnrichmentCDK8, MAPK10.39
2581Polycystic kidney diseaseEnrichmentANO5, COL4A40.39
2582Marfan syndromeEnrichmentTGFBR1, TGFBR20.39
2583Crigler-najjar syndrome, type iEnrichmentUGT1A1, UGT1A40.39
2584Hyperbilirubinemia, transient familial neonatalEnrichmentUGT1A1, UGT1A40.39
2585Omenn syndromeEnrichmentADA, LIG40.39
2586Stroke, ischemicEnrichmentF2, NOTCH30.39
2587Bilirubin, serum level of, quantitative trait locus 1EnrichmentUGT1A1, UGT1A40.39
2588Crigler-najjar syndrome, type iiEnrichmentUGT1A1, UGT1A40.39
2589Aicardi-goutieres syndromeEnrichmentATRIP, IFIH10.39
2590Isolated tracheo-esophageal fistulaEnrichmentBRCA2, BRIP10.39
2591Melanoma, cutaneous malignant 1EnrichmentBRAF, CDK4, CDKN2A0.38
2592Alobar holoprosencephalyEnrichmentDLL1, FGF8, SHH0.38
2593Muscular dystrophyEnrichmentANO5, LMNA, PMM2, POMT20.38
2594Waardenburg syndrome, type 1EnrichmentPOLR2F0.37
2595BrachydactylyEnrichmentGNAS0.37
2596Alzheimer's disease 1EnrichmentAPP0.37
2597Motor neuron diseaseEnrichmentTBK10.37
2598MegacolonEnrichmentAKT30.37
2599Vesicoureteral refluxEnrichmentMED13L0.37
2600Oligoarticular juvenile idiopathic arthritisEnrichmentCD2470.37
2601Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2470.37
2602Mirror movements 1EnrichmentRAD510.35
2603Amelogenesis imperfecta, type iiiaEnrichmentSLC24A40.35
2604Trichorhinophalangeal syndrome, type iiEnrichmentEXT10.35
2605Hutchinson-gilford progeria syndromeEnrichmentLMNA0.35
2606Polydactyly, preaxial iiEnrichmentSHH0.35
2607Dowling-degos disease 1EnrichmentADAM100.35
2608Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS0.35
2609Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE110.35
2610Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaEnrichmentSLC4A10.35
2611Gaucher disease, type iEnrichmentMSH60.35
2612Trichohepatoenteric syndrome 1EnrichmentAGK0.35
2613Down syndromeEnrichmentMTRR0.35
2614Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentLMNA0.35
2615Dermatitis, atopicEnrichmentKCNJ110.35
2616Paget disease of bone 2, early-onsetEnrichmentSQSTM10.35
2617Infantile sialic acid storage diseaseEnrichmentSLC17A50.35
2618Glaucoma 3, primary infantile, bEnrichmentCYP1B10.35
2619Congenital disorder of glycosylation, type ikEnrichmentALG10.35
2620Maturity-onset diabetes of the young, type 3EnrichmentGCK0.35
2621Salla diseaseEnrichmentSLC17A50.35
2622Myopathy, autophagic vacuolar, infantile-onsetEnrichmentGNE0.35
2623Barrett esophagusEnrichmentERBB20.35
2624Aicardi-goutieres syndrome 1EnrichmentATRIP0.35
2625Tobacco addictionEnrichmentSLC6A30.35
2626Intellectual developmental disorder, autosomal dominant 26EnrichmentKMT2D0.35
2627Imerslund-grasbeck syndrome 2EnrichmentAMN0.35
2628Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR10.35
2629Macular dystrophy with or without cone dysfunctionEnrichmentRDH120.35
2630Multiple synostoses syndromeEnrichmentFGF90.35
2631Basal ganglia calcificationEnrichmentSLC20A20.35
2632Emery-dreifuss muscular dystrophyEnrichmentLMNA0.35
2633Dowling-degos diseaseEnrichmentPSENEN0.35
2634Orofacial cleftEnrichmentLRP60.35
2635Tuberous sclerosisEnrichmentTSC20.35
2636Spastic quadriplegic cerebral palsyEnrichmentKANK10.35
2637Mucopolysaccharidosis ivEnrichmentGALNS0.35
2638Epidermolytic nevusEnrichmentHRAS0.35
2639Idiopathic bronchiectasisEnrichmentCFTR0.35
2640Diabetes insipidusEnrichmentAVP0.35
2641Familial cerebral cavernous malformationsEnrichmentPIK3CA0.35
2642Paget's disease of bone 2EnrichmentSQSTM10.35
2643Cerebral malariaEnrichmentCD360.35
2644Silver-russell syndrome due to a point mutationEnrichmentCDKN1C0.35
2645Primary hyperparathyroidismEnrichmentCDKN1B0.35
2646Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT0.35
2647Intermediate nemaline myopathyEnrichmentTPM30.35
2648Benign ependymomaEnrichmentMSH20.35
2649Orofacial clefting syndromeEnrichmentLRP60.35
2650Primary fanconi renotubular syndromeEnrichmentSLC34A10.35
2651Thrombotic microangiopathyEnrichmentATRIP0.35
2652Oculomotor apraxiaEnrichmentATM0.35
2653Congenital muscular dystrophy without intellectual disabilityEnrichmentPOMT10.35
2654AsthmaEnrichmentHLA-G, MUC70.34
2655Frontotemporal dementia 1EnrichmentDCTN1, PSEN10.34
2656Meningioma, familialEnrichmentPDGFB, PTEN0.34
2657Myelodysplastic syndromeEnrichmentGNB1, TP530.34
2658Combined immunodeficiencyEnrichmentARPC1B, ZAP700.34
2659Combined t cell and b cell immunodeficiencyEnrichmentARPC1B, ZAP700.34
2660Combined t and b cell immunodeficiencyEnrichmentARPC1B, ZAP700.34
2661MyopathyEnrichmentANO5, DPM3, DYNC1H1, GAA, MYH2, TPM30.33
2662Arthrogryposis, distal, type 1aEnrichmentMET0.33
2663Fetal hemoglobin quantitative trait locus 1EnrichmentHBB0.33
2664Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA10.33
2665Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.33
2666Severe congenital neutropeniaEnrichmentVPS450.33
2667CryptorchidismEnrichmentTUBA1A0.33
2668Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.33
2669Early-onset posterior polar cataractEnrichmentCHMP4B0.33
2670Tetralogy of fallotEnrichmentHEY2, JAG1, KDR, NOTCH10.32
2671Auditory neuropathyEnrichmentFDXR, NOTCH3, SLC17A8, TUBB4A0.32
2672Esophageal atresia/tracheoesophageal fistulaEnrichmentBRCA2, BRIP1, POLR2B0.31
2673Septooptic dysplasiaEnrichmentFGFR1, SHH0.30
2674Congenital hypothyroidismEnrichmentSLC5A5, TUBB10.30
2675Cutis laxaEnrichmentABCC6, COL5A10.30
2676Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentATRX, CFTR, FGF8, KLB, PTPN11, RPL10L, TAF4B, XRCC20.30
2677Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.29
2678Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.29
2679Chronic granulomatous diseaseEnrichmentCYBA0.29
2680Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.29
2681Aicardi-goutiares syndromeEnrichmentIFIH10.29
2682Enchondromatosis, multiple, ollier typeEnrichmentIDH10.28
2683Epidermolysis bullosa simplex 1c, localizedEnrichmentGALK10.28
2684Paroxysmal extreme pain disorderEnrichmentIDH10.28
2685Kearns-sayre syndromeEnrichmentKIF5B0.28
2686Congenital disorder of glycosylation, type idEnrichmentALG30.28
2687Deafness, autosomal recessive 4, with enlarged vestibular aqueductEnrichmentSLC26A40.28
2688Norrie diseaseEnrichmentFZD40.28
2689Macrocephaly/autism syndromeEnrichmentPTEN0.28
2690Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF10.28
2691Congenital disorder of glycosylation, type ilEnrichmentALG90.28
2692Liver failure, infantile, transientEnrichmentMMUT0.28
2693Pontocerebellar hypoplasia, type 2dEnrichmentPCCA0.28
2694Glanzmann thrombasthenia 2EnrichmentITGB30.28
2695AmblyopiaEnrichmentKMT2D0.28
2696HyperekplexiaEnrichmentSLC6A50.28
2697Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA0.28
2698Juvenile glaucomaEnrichmentCYP1B10.28
2699Persistent hyperplastic primary vitreousEnrichmentFZD40.28
2700Macular degenerationEnrichmentABCA40.28
2701Histiocytoid hemangiomaEnrichmentLMNA0.28
2702Alg9-congenital disorder of glycosylationEnrichmentALG90.28
2703Aplasia cutis congenitaEnrichmentDLL40.28
2704Autosomal thrombocytopenia with normal plateletsEnrichmentETV60.28
2705DementiaEnrichmentPSEN10.28
2706Familial glucocorticoid deficiencyEnrichmentMC2R0.28
2707Genetic motor neuron diseaseEnrichmentDCTN10.28
2708Sleep disorderEnrichmentSLC9A60.28
2709Idiopathic aplastic anemiaEnrichmentPRF10.28
2710Familial cerebral saccular aneurysmEnrichmentTHSD10.28
2711Maturity-onset diabetes of the youngEnrichmentABCC8, GCK, KCNJ110.28
2712CraniosynostosisEnrichmentFGFR2, FGFR3, GPC40.28
2713Microphthalmia/coloboma 12EnrichmentFZD5, RBP40.26
2714Neural tube defectsEnrichmentITGB1, RAD9B0.26
2715Pulmonary hypertension, primary, 1EnrichmentPAH, RPL50.26
2716Pulmonary disease, chronic obstructiveEnrichmentCYP2R1, HMOX10.26
2717Amelogenesis imperfectaEnrichmentLAMB3, SLC24A40.26
2718Stereotypic movement disorderEnrichmentMECP2, SNAP250.26
2719Amelogenesis imperfecta, type ieEnrichmentLAMB30.26
2720Ciliary dyskinesia, primary, 3EnrichmentNFKB10.26
2721Heritable pulmonary arterial hypertensionEnrichmentCAV10.24
2722Angelman syndromeEnrichmentMECP20.23
2723Glaucoma, primary open angleEnrichmentCYP1B10.23
2724Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA0.23
2725Renal tubular acidosis, distal, 1EnrichmentSLC4A10.23
2726Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B0.23
2727Cholestasis, progressive familial intrahepatic, 1EnrichmentABCB40.23
2728Split-hand/foot malformation 1EnrichmentFGFR20.23
2729Hemihyperplasia, isolatedEnrichmentPIK3CA0.23
2730Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF0.23
2731Hyperphenylalaninemia, bh4-deficient, aEnrichmentPAH0.23
2732Metachromatic leukodystrophyEnrichmentARSB0.23
2733Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentGALK10.23
2734Pendred syndromeEnrichmentSLC26A40.23
2735Kleefstra syndrome 1EnrichmentABCC90.23
2736Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B0.23
2737Familial thyroid dyshormonogenesisEnrichmentSLC5A50.23
2738DiarrheaEnrichmentSGSH0.23
2739Pulmonary fibrosisEnrichmentMUC5B0.23
2740Hereditary spherocytosisEnrichmentSLC4A10.23
2741Spondylocostal dysostosis, autosomal recessiveEnrichmentLFNG0.23
2742Autosomal recessive distal renal tubular acidosisEnrichmentSLC4A10.23
2743Distal renal tubular acidosisEnrichmentSLC4A10.23
2744Syndromic rod-cone dystrophyEnrichmentABCA40.23
2745PheochromocytomaEnrichmentNF1, VHL0.23
2746Aortic aneurysm, familial thoracic 1EnrichmentNOTCH1, SMAD30.23
2747CataractEnrichmentCOL5A1, WRN0.23
2748Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.21
274946 xx gonadal dysgenesisEnrichmentNUP1070.21
2750Postsynaptic congenital myasthenic syndromesEnrichmentAGRN0.21
2751Polydactyly, postaxial, type a1EnrichmentBCL11A, EP3000.20
2752Hermansky-pudlak syndromeEnrichmentAP3B1, CP0.20
2753Male infertility with spermatogenesis disorderEnrichmentKMT2D, SPRED10.20
2754Long qt syndromeEnrichmentAKAP9, CALM1, CALM2, LMNA0.20
2755Bethlem myopathy 1aEnrichmentLMNA0.19
2756Hypothyroidism, congenital, nongoitrous, 2EnrichmentSLC26A40.19
2757Glaucoma 3, primary congenital, aEnrichmentCYP1B10.19
2758Rett syndromeEnrichmentMECP20.19
2759Coats diseaseEnrichmentFZD40.19
2760Intervertebral disc diseaseEnrichmentTHBS20.19
2761Muscular dystrophy-dystroglycanopathyEnrichmentPOMGNT10.19
2762NeutropeniaEnrichmentSLC37A40.19
2763Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT10.19
2764Oculocutaneous albinismEnrichmentSLC24A50.19
2765Epidermolysis bullosa simplexEnrichmentGALK10.19
2766Childhood-onset nemaline myopathyEnrichmentTPM30.19
2767Amelogenesis imperfecta type 2EnrichmentSLC24A40.19
2768Paroxysmal dystoniaEnrichmentSLC2A10.19
2769Hereditary clear cell renal cell carcinomaEnrichmentOGG10.19
2770Hypophosphatemic ricketsEnrichmentFGF230.19
2771Congenital muscular dystrophy due to dystroglycanopathyEnrichmentPOMGNT10.19
2772Diaphragmatic hernia, congenitalEnrichmentCDK80.19
2773Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A10.19
2774ClubfootEnrichmentCOL5A10.19
2775Chromosome 1p36 deletion syndromeEnrichmentHSPG20.19
2776EpilepsyEnrichmentATP1A2, ATP1A3, MECP2, MTR, SLC2A10.18
2777Severe covid-19EnrichmentHLA-A, JAK30.18
2778Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentBCL11A, PMM20.18
2779Wolff-parkinson-white syndromeEnrichmentABCC9, SLC26A40.18
2780AutismEnrichmentCAMK2G, CREBBP, KMT2D, MECP2, RPL17, SHH, SRD5A3, STX1A, TCF7L20.18
278146,xy partial gonadal dysgenesisEnrichmentSOS10.17
2782Myopathy, tubular aggregate, 1EnrichmentDPAGT10.16
2783Leber congenital amaurosis 1EnrichmentLRAT0.16
2784Polycystic kidney disease 4 with or without polycystic liver diseaseEnrichmentSHOC20.16
2785Immunodeficiency 47EnrichmentALG20.16
2786Ewing sarcomaEnrichmentNF10.16
2787Rett syndrome, congenital variantEnrichmentMECP20.16
2788NeuroblastomaEnrichmentALK0.16
2789MyopiaEnrichmentCOL4A40.16
2790Neuronal ceroid lipofuscinosisEnrichmentMEFV0.16
2791Cleft palate, isolatedEnrichmentAMER1, GNB10.16
2792Cardiomyopathy, dilated, 1eEnrichmentLMNA, MED120.16
2793Brugada syndromeEnrichmentABCC9, AKAP9, LMNA0.15
2794Primary autosomal recessive microcephalyEnrichmentNUP37, TAF130.15
2795Isolated congenital microcephalyEnrichmentTUBA3E0.14
2796Left ventricular noncompactionEnrichmentLMNA, MIB1, MIB2, RAF10.14
2797Neuromuscular diseaseEnrichmentGOLGA2, LMNA0.14
2798Orofacial cleft 1EnrichmentFGF100.13
2799Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.13
2800Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR0.13
2801Nephrotic syndrome, type 1EnrichmentALG10.13
2802Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR0.13
2803PolydactylyEnrichmentBRCA20.13
2804Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA0.13
2805Hypogonadotropic hypogonadismEnrichmentFGFR10.13
2806Congenital central hypoventilation syndromeEnrichmentBDNF0.13
2807Ventricular septal defectEnrichmentBRAF0.13
2808Hydrops fetalisEnrichmentSLC26A30.13
2809Renal agenesis, bilateralEnrichmentFGF200.13
2810Optic atrophy plus syndromeEnrichmentABCA4, ABCC6, RDH5, SNAP25, TUBB60.13
2811Sudden infant death syndromeEnrichmentCALM20.13
2812Non-syndromic x-linked intellectual disabilityEnrichmentALG13, CNKSR2, MECP2, MED120.13
2813CakutEnrichmentACTG1, COL4A10.13
2814Spastic ataxiaEnrichmentATP1A2, CYP7B1, DNMT1, GLB1, ITPR1, TUBB30.13
2815Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.12
2816Pontocerebellar hypoplasiaEnrichmentCHMP1A0.12
2817Amyotrophic lateral sclerosis 1EnrichmentDCTN10.11
2818Meier-gorlin syndrome 1EnrichmentFGFR20.11
2819Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentGFPT10.11
2820Stickler syndromeEnrichmentVCAN0.11
2821Neurodegeneration with brain iron accumulationEnrichmentCP0.11
2822Nemaline myopathyEnrichmentTPM30.11
2823Optic nerve diseaseEnrichmentSRD5A30.11
2824AchromatopsiaEnrichmentOPN1MW0.11
2825Congenital nonbullous ichthyosiform erythrodermaEnrichmentABCA120.11
2826Progressive myoclonus epilepsyEnrichmentEPM2A0.11
2827Parkinson's diseaseEnrichmentTBP0.11
2828Dyskeratosis congenitaEnrichmentNPM10.11
2829LeukodystrophyEnrichmentERCC2, HEXA0.11
2830Fetal akinesia deformation sequence 1EnrichmentNUP88, TUBA1A0.11
2831Stargardt disease 1EnrichmentABCA4, LRAT, RDH120.10
2832Cardiomyopathy, familial hypertrophic, 9EnrichmentPMS20.10
283346,xy complete gonadal dysgenesisEnrichmentDHH0.10
2834Movement diseaseEnrichmentCLCN60.10
2835IchthyosisEnrichmentABCA120.10
2836Mitochondrial myopathyEnrichmentFDX20.10
2837Cardiomyopathy, dilated, 1aEnrichmentLMNA, SLC22A50.10
2838Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentNF1, VHL0.10
2839MicrophthalmiaEnrichmentRBP4, STRA60.08
2840Cardiac conduction defectEnrichmentLMNA0.08
2841Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA0.08
2842Renal hypodysplasia/aplasia 3EnrichmentFGFR30.08
2843Lactic acidosisEnrichmentDLD0.08
2844Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA0.08
2845Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA0.08
2846Peripheral nervous system diseaseEnrichmentDYNC1H1, LMNA, SLC12A60.08
2847NeuropathyEnrichmentDYNC1H1, LMNA, SLC12A60.08
2848Hereditary spastic paraplegiaEnrichmentCYP2U1, CYP7B1, ERLIN1, ERLIN20.07
2849Parkinson disease, late-onsetEnrichmentTBP0.07
2850Familial atrial fibrillationEnrichmentNUP1550.07
2851Premature menopauseEnrichmentNBN0.07
2852HypertelorismEnrichmentCOL1A1, FGFR2, MED13L, PIK3CA, SLC12A60.07
2853Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA, RAF10.07
2854Cone dystrophyEnrichmentABCA4, SRD5A30.07
2855Rare genetic deafnessEnrichmentACTG1, COL4A5, MYH9, POLR2F0.06
2856West syndromeEnrichmentNTRK2, SLC2A1, TSC2, TUBA1A0.06
2857Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.06
2858Myoclonic epilepsy of unverricht and lundborgEnrichmentEPM2A0.06
2859Cone-rod dystrophy 6EnrichmentABCA40.06
2860Cleft lip/palateEnrichmentPDGFRA0.06
2861Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA0.06
2862Pituitary stalk interruption syndromeEnrichmentDNMT10.06
2863Hereditary chronic pancreatitisEnrichmentCFTR0.06
2864Congenital myopathy 4a, autosomal dominantEnrichmentTPM30.05
2865Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA0.04
2866Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, GJA1, MET, MYH90.04
2867Pancreatitis, hereditaryEnrichmentCFTR0.04
2868Cataract 44EnrichmentAGK0.04
2869Beckwith-wiedemann syndromeEnrichmentCDKN1C0.03
2870Dilated cardiomyopathyEnrichmentBRAF, KIF5B, LAMA2, LMNA, RAF1, TAB2, VCL0.03
2871Congenital myopathyEnrichmentALG140.03
2872Non-syndromic genetic deafnessEnrichmentACTG10.03
2873Centronuclear myopathyEnrichmentTPM30.02
2874Cardiomyopathy, dilated, 1gEnrichmentPMS20.02
2875Cone-rod dystrophy 2EnrichmentABCA4, ITGA4, OPN1LW, OPN1MW, RDH120.02
2876Bardet-biedl syndromeEnrichmentCOMT0.02
2877Nonsyndromic hearing lossEnrichmentACTG10.02
2878Hypertrophic cardiomyopathyEnrichmentPTPN110.01
2879Ear malformationEnrichmentSLC26A40.01
2880Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.01
2881Joubert syndrome 1EnrichmentRCOR10.01
2882Benign epilepsy with centrotemporal spikesEnrichmentEPM2A, SLC2A10.01
2883Centralopathic epilepsyEnrichmentEPM2A, SLC2A10.01
2884SchizophreniaEnrichmentCOMT0.00
2885Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentABCG50.00
2886Familial hypertrophic cardiomyopathyEnrichmentRAF10.00
2887NephronophthisisEnrichmentADAMTS90.00
2888Sensorineural hearing lossEnrichmentHGF, SLC26A40.00
2889Male infertilityEnrichmentCFTR0.00
2890Deafness, autosomal recessiveEnrichmentMYH90.00
2891Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.00
2892Leber plus diseaseEnrichmentIMPDH1, TUBB4B0.00
2893Primary ciliary dyskinesiaEnrichmentPRKAR1B0.00
2894Distal arthrogryposisEnrichmentGBE10.00
2895Hereditary retinal dystrophyEnrichmentABCA4, ABCC6, ATRIP, DHDDS, FZD4, HGSNAT, HK1, IMPDH1, ITGA4, JAG1, KIAA1549, LAMA1, LRAT, LRP5, MMACHC, POMGNT1, RBP4, RDH12, RDH5, RLBP1, SGSH, SLC24A1, VCAN0.00
2896Fundus dystrophyEnrichmentABCA4, ABCC6, ATRIP, DHDDS, FZD4, HGSNAT, HK1, IMPDH1, ITGA4, JAG1, KIAA1549, LAMA1, LRAT, LRP5, MMACHC, POMGNT1, RBP4, RDH12, RDH5, RLBP1, SGSH, SLC24A1, VCAN0.00
2897Mitochondrial diseaseEnrichmentAGK, C1QBP, TOP3A0.00
2898Retinitis pigmentosaEnrichmentABCA4, DHDDS, HGSNAT, HK1, IMPDH1, KIAA1549, LARGE1, LRAT, POMGNT1, RDH12, RDH5, RLBP1, SLC24A10.00
2899Leigh syndrome, nuclearEnrichmentECHS10.00
2900Leigh diseaseEnrichmentECHS10.00

Loading...
Loading...
Loading...