| 1 | Bladder cancer | Enrichment | ATM, BRCA1, CDKN1A, CDKN2A, CTNNA3, CTNNB1, EGFR, FGFR3, HRAS, KDM6A, PIK3CA, PTEN, TERT, TP53, TSC1 | 10.86 |
| 2 | Inherited cancer-predisposing syndrome | Enrichment | APC, ATM, BAP1, BARD1, BRCA1, CDH1, CDK4, CDKN2A, CTNNA1, EGFR, EZH2, KIT, MAP4K2, MAX, MET, NF2, PDGFRA, PTEN, TP53, TSC1, TSC2 | 9.38 |
| 3 | Colorectal cancer | Enrichment | AKT1, APC, ATM, BAX, BRCA1, CCND1, CDH1, CTNNA1, CTNNB1, FGFR2, FGFR3, FZD3, IGF2, MET, PIK3CA, SRC, TP53 | 9.12 |
| 4 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1, EGF, PIK3CA, TP53, TSC1, TSC2 | 9.12 |
| 5 | Ovarian cancer | Enrichment | AKT1, APC, ATM, BARD1, BRCA1, CDH1, CDKN2A, CTNNB1, EGFR, KIT, MAP3K1, MET, NTRK1, PDGFRA, PIK3CA, PTEN, TP53, TSC2 | 8.96 |
| 6 | Gastric cancer | Enrichment | APC, ATM, BARD1, BRCA1, CDH1, CDK4, CDKN2A, FGFR2, IL1B, PIK3CA, PTEN, TP53 | 8.50 |
| 7 | Meningioma | Enrichment | AKT1, BAP1, NF2, PDGFB, PIK3CA, PTEN, TERT | 7.82 |
| 8 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, DVL3, FZD2, ROR2, WNT5A | 7.61 |
| 9 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA, PTEN, RHEB | 7.61 |
| 10 | Autosomal recessive robinow syndrome | Enrichment | DVL1, DVL3, FZD2, ROR2, WNT5A | 6.85 |
| 11 | Hereditary breast carcinoma | Enrichment | AKT1, APC, ATM, BARD1, BRCA1, CDH1, PIK3CA, PTEN, RB1CC1, TP53 | 6.26 |
| 12 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, EGFR, HRAS, KIT, PIK3CA, TP53 | 6.24 |
| 13 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, DVL3, FZD2, WNT5A | 6.09 |
| 14 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 6.09 |
| 15 | Autosomal dominant robinow syndrome | Enrichment | DVL1, DVL3, FZD2, WNT5A | 6.09 |
| 16 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 6.09 |
| 17 | Endometrial cancer | Enrichment | ATM, BARD1, BRCA1, CDH1, FGFR2, PIK3CA, PTEN | 5.76 |
| 18 | Breast cancer | Enrichment | AKT1, APC, ATM, BARD1, BRCA1, CDH1, JUN, PIK3CA, PTEN, RB1CC1, SHC1, TP53 | 5.65 |
| 19 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1, MET, PIK3CA, TERT, TP53 | 5.61 |
| 20 | Junctional epidermolysis bullosa | Enrichment | ITGA6, ITGB4, LAMA3, LAMB3, LAMC2 | 5.56 |
| 21 | Myeloma, multiple | Enrichment | ATM, BAP1, BARD1, CCND1, FGFR3, FLT3, KMT2C, LATS1, TP53, YAP1 | 5.24 |
| 22 | Epidermolysis bullosa, junctional 1a, intermediate | Enrichment | ITGB4, LAMA3, LAMB3, LAMC2 | 4.93 |
| 23 | Junctional epidermolysis bullosa non-herlitz type | Enrichment | ITGB4, LAMA3, LAMB3, LAMC2 | 4.93 |
| 24 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1, TERT, TP53 | 4.93 |
| 25 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, RB1CC1, TP53 | 4.93 |
| 26 | Lung squamous cell carcinoma | Enrichment | CDKN2A, EGFR, FGFR3, PIK3CA | 4.93 |
| 27 | Prostate cancer | Enrichment | ATM, BRCA1, CDH1, MAD1L1, PIK3CA, PTEN, TP53 | 4.72 |
| 28 | Hepatoblastoma | Enrichment | APC, BARD1, CTNNB1, FGFR3, TERT, TP53 | 4.57 |
| 29 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10, FGFR2, FGFR3 | 4.57 |
| 30 | Osteoporosis, juvenile | Enrichment | DKK1, WNT1, WNT3A | 4.57 |
| 31 | Hamartoma | Enrichment | FGFR3, TSC1, TSC2 | 4.57 |
| 32 | Digenic alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 4.57 |
| 33 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, BAP1, MET, MTOR, SETD2 | 4.25 |
| 34 | Kidney disease | Enrichment | COL4A3, COL4A4, COL4A5, LAMB2, TSC1 | 4.25 |
| 35 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, MAP2K2, RAF1, SOS1 | 4.25 |
| 36 | Gliosarcoma | Enrichment | ATM, EGFR, FGFR1, FGFR3, TP53 | 4.09 |
| 37 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA, TEK | 4.04 |
| 38 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1, CTNNA1, MAP3K6 | 3.97 |
| 39 | Autism spectrum disorder | Enrichment | ASXL1, CHD8, CSNK2A1, CSNK2B, EED, KDM6A, KMT2C, MAP2K1, PTEN, SETD2, SETD5, TSC2 | 3.97 |
| 40 | Giant cell glioblastoma | Enrichment | ATM, EGFR, FGFR1, FGFR3, TP53 | 3.95 |
| 41 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA, TEK | 3.83 |
| 42 | Lung non-small cell carcinoma | Enrichment | EGFR, HRAS, MAP2K1, PIK3CA | 3.64 |
| 43 | Alport syndrome 3a, autosomal dominant | Enrichment | COL4A3, COL4A4, COL4A5 | 3.58 |
| 44 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, LRP5, PRSS23 | 3.58 |
| 45 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, DVL3, FZD2 | 3.58 |
| 46 | Autosomal dominant alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 3.58 |
| 47 | Alport syndrome | Enrichment | COL4A3, COL4A4, COL4A5 | 3.58 |
| 48 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 3.58 |
| 49 | Nephrotic syndrome | Enrichment | COL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB2 | 3.57 |
| 50 | Tooth agenesis | Enrichment | FGFR1, LRP6, TGFA, WNT10A, WNT10B | 3.38 |
| 51 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2, TP53 | 3.29 |
| 52 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA, PTEN | 3.29 |
| 53 | Epidermolysis bullosa, junctional 1b, severe | Enrichment | LAMA3, LAMB3, LAMC2 | 3.29 |
| 54 | Testicular germ cell tumor | Enrichment | FGFR3, KIT, KITLG | 3.29 |
| 55 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, MAP2K2, RAF1, SOS1 | 3.28 |
| 56 | Lung cancer susceptibility 3 | Enrichment | ACTA2, EGFR, FGF10, TP53 | 3.19 |
| 57 | Nevus, epidermal | Enrichment | FGFR3, HRAS, PIK3CA | 3.06 |
| 58 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN, TP53 | 3.06 |
| 59 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM, MET, MTOR | 3.06 |
| 60 | Noonan syndrome 3 | Enrichment | HRAS, RAF1, SOS1 | 3.06 |
| 61 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA, TP53 | 3.06 |
| 62 | Pilomyxoid astrocytoma | Enrichment | FGFR1, NTRK2, RAF1 | 3.06 |
| 63 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, FLT3, TP53 | 3.06 |
| 64 | Van buchem disease | Enrichment | LRP5, SOST | 3.04 |
| 65 | Cervical cancer | Enrichment | FGFR3, TP53 | 3.04 |
| 66 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 3.04 |
| 67 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 3.04 |
| 68 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 3.04 |
| 69 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 3.04 |
| 70 | Robinow syndrome, autosomal dominant 3 | Enrichment | DVL3, FZD2 | 3.04 |
| 71 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1, MET | 3.04 |
| 72 | Split hand-foot malformation | Enrichment | FGFR2, LEF1 | 3.04 |
| 73 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 3.04 |
| 74 | Ocular melanoma | Enrichment | BAP1, PLCB4 | 3.04 |
| 75 | Cervix carcinoma | Enrichment | FGFR3, TP53 | 3.04 |
| 76 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 3.04 |
| 77 | X-linked diffuse leiomyomatosis-alport syndrome | Enrichment | COL4A5, COL4A6 | 3.04 |
| 78 | Malignant peritoneal mesothelioma | Enrichment | LATS1, LATS2 | 3.04 |
| 79 | Rasopathy | Enrichment | HRAS, MAP2K1, MAP2K2, RAF1, SOS1 | 3.02 |
| 80 | Rhabdomyosarcoma | Enrichment | BRCA1, HRAS, PTEN, TP53 | 2.95 |
| 81 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BRCA1, CTNNA1, CTNNA2, PTEN, TP53 | 2.90 |
| 82 | Exudative vitreoretinopathy | Enrichment | CTNNB1, LRP5, PRSS23 | 2.87 |
| 83 | Melanoma, cutaneous malignant 1 | Enrichment | BAP1, CDK4, CDKN2A, TERT | 2.85 |
| 84 | Human immunodeficiency virus type 1 | Enrichment | CCL2, CCL5, CXCL12, IL10 | 2.75 |
| 85 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 2.70 |
| 86 | Non-immune hydrops fetalis | Enrichment | ACTA1, ANGPT2, FLT4, FZD6, HRAS | 2.66 |
| 87 | Arteriovenous malformations of the brain | Enrichment | EGFR, IL6, MAP4K4, NLRP3 | 2.66 |
| 88 | Lung cancer | Enrichment | ACTA2, BRCA1, EGFR, MET, PIK3CA | 2.60 |
| 89 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 2.57 |
| 90 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 2.57 |
| 91 | Hematuria, benign familial, 1 | Enrichment | COL4A3, COL4A4 | 2.57 |
| 92 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 2.57 |
| 93 | Weaver syndrome | Enrichment | EZH2, SUZ12 | 2.57 |
| 94 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14, MMP2 | 2.57 |
| 95 | Anus, imperforate | Enrichment | CTNNB1, MAP4K4 | 2.57 |
| 96 | Desmoid tumor | Enrichment | APC, CTNNB1 | 2.57 |
| 97 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 2.57 |
| 98 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 2.57 |
| 99 | Testicular germ cell cancer | Enrichment | FGFR3, KIT | 2.57 |
| 100 | Adenocarcinoma | Enrichment | ATM, TP53 | 2.57 |
| 101 | Spermatocytoma | Enrichment | FGFR3, HRAS | 2.57 |
| 102 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 2.57 |
| 103 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 2.55 |
| 104 | Meningioma, familial | Enrichment | NF2, PDGFB, PTEN | 2.43 |
| 105 | Uterine corpus cancer | Enrichment | ATM, BRCA1, PTEN | 2.43 |
| 106 | Microcephaly | Enrichment | ACTB, ACTG1, ASXL1, COL4A1, CTNNB1, IGF1R, KIF23, MAPK1, PAK3, SLC2A1 | 2.39 |
| 107 | Brain small vessel disease 1 with or without ocular anomalies | Enrichment | COL4A1, COL4A2 | 2.28 |
| 108 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 2.28 |
| 109 | Alport syndrome 2, autosomal recessive | Enrichment | COL4A3, COL4A4 | 2.28 |
| 110 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, CTNNA1 | 2.28 |
| 111 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 2.28 |
| 112 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, CCND2 | 2.28 |
| 113 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 2.28 |
| 114 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 2.28 |
| 115 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 2.28 |
| 116 | Lung sarcomatoid carcinoma | Enrichment | TERT, TP53 | 2.28 |
| 117 | Malignant epithelioid hemangioendothelioma | Enrichment | WWTR1, YAP1 | 2.28 |
| 118 | Chronic myelomonocytic leukemia | Enrichment | ASXL1, FLT3 | 2.28 |
| 119 | Retinopathy of prematurity | Enrichment | LRP5, PRSS23 | 2.28 |
| 120 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 2.28 |
| 121 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 2.28 |
| 122 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | FLT3, KIT | 2.28 |
| 123 | Autosomal recessive alport syndrome | Enrichment | COL4A3, COL4A4 | 2.28 |
| 124 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | ASXL1, KIT | 2.28 |
| 125 | Glioma | Enrichment | FGFR2, PTEN | 2.28 |
| 126 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB, WWTR1 | 2.28 |
| 127 | Osteogenesis imperfecta, type iv | Enrichment | SERPINF1, SPARC, WNT1 | 2.21 |
| 128 | Nk-cell enteropathy | Enrichment | IGF1R, PIK3CB, SETD5 | 2.21 |
| 129 | Pancreatic cancer | Enrichment | ATM, BRCA1, CDKN2A, TP53 | 2.21 |
| 130 | Leukemia, acute myeloid | Enrichment | ASXL1, FLT3, KIT, TERT, TP53 | 2.17 |
| 131 | Hydrops fetalis, nonimmune | Enrichment | ACTA1, FLT4, FZD6, HRAS | 2.14 |
| 132 | Multiple sclerosis | Enrichment | ITGB4, LAMA5, LAMB1 | 2.11 |
| 133 | Osteoporosis | Enrichment | LRP5, SRC, WNT1 | 2.11 |
| 134 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 2.07 |
| 135 | Rhabdomyosarcoma 2 | Enrichment | FOXO1, TP53 | 2.07 |
| 136 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 2.07 |
| 137 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | BUB1B-PAK6, MAD1L1 | 2.07 |
| 138 | Acute myeloid leukemia with maturation | Enrichment | FLT3, KIT | 2.07 |
| 139 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 2.07 |
| 140 | Epidermolysis bullosa | Enrichment | ITGA6, LAMB3 | 2.07 |
| 141 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 2.07 |
| 142 | Coloboma of choroid and retina | Enrichment | ACTG1, FZD5 | 2.07 |
| 143 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | FLT3, KIT | 2.07 |
| 144 | Familial porencephaly | Enrichment | COL4A1, COL4A2 | 2.07 |
| 145 | Hydrocephalus | Enrichment | FGFR2, FZD3, PDGFRB | 2.02 |
| 146 | Melanoma, uveal | Enrichment | BAP1, PLCB4 | 1.90 |
| 147 | Split-hand/foot malformation 1 | Enrichment | FGFR2, LEF1 | 1.90 |
| 148 | Hemihyperplasia, isolated | Enrichment | IGF2, PIK3CA | 1.90 |
| 149 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 1.90 |
| 150 | Type 1 diabetes mellitus | Enrichment | IL6, INS | 1.90 |
| 151 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6, ITGB4 | 1.90 |
| 152 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 1.90 |
| 153 | Hemorrhage, intracerebral | Enrichment | COL4A1, COL4A2 | 1.90 |
| 154 | Keratoconus | Enrichment | COL4A1, TSC1 | 1.90 |
| 155 | Clear cell renal cell carcinoma | Enrichment | ATM, BAP1 | 1.90 |
| 156 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGA2, ITGB3 | 1.90 |
| 157 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, TGFB1 | 1.90 |
| 158 | 46,xy disorder of sex development | Enrichment | FGFR3, INSR | 1.90 |
| 159 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 1.87 |
| 160 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 1.87 |
| 161 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF17, FGF8, FGFR1 | 1.80 |
| 162 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, MAP4K2 | 1.76 |
| 163 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, PTEN | 1.76 |
| 164 | Gastrointestinal stromal tumor | Enrichment | KIT, PDGFRA | 1.76 |
| 165 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 1.76 |
| 166 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF, NTRK1 | 1.76 |
| 167 | Follicular thyroid carcinoma | Enrichment | HRAS, PTEN | 1.76 |
| 168 | Overgrowth syndrome | Enrichment | CHD8, MTOR | 1.76 |
| 169 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, PTEN, TP53 | 1.73 |
| 170 | Craniosynostosis | Enrichment | CTNNA1, FGFR2, FGFR3 | 1.67 |
| 171 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 1.65 |
| 172 | Glioma susceptibility 1 | Enrichment | BAP1, TP53 | 1.65 |
| 173 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 1.65 |
| 174 | Mosaic variegated aneuploidy syndrome | Enrichment | BUB1B-PAK6, MAD1L1 | 1.65 |
| 175 | Isolated split hand-split foot malformation | Enrichment | BTRC, WNT10B | 1.65 |
| 176 | Skin disease | Enrichment | ITGB4, LAMB3, LAMC2 | 1.56 |
| 177 | Atypical chronic myeloid leukemia, bcr-abl1 negative | Enrichment | ASXL1, FLT3 | 1.55 |
| 178 | Ventricular septal defect | Enrichment | RPS6KA3, TEK | 1.55 |
| 179 | Colonic benign neoplasm | Enrichment | APC, ATM | 1.55 |
| 180 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 1.52 |
| 181 | Brachydactyly, type b1 | Enrichment | ROR2 | 1.52 |
| 182 | Hypochondroplasia | Enrichment | FGFR3 | 1.52 |
| 183 | Chiari malformation type i | Enrichment | DKK1 | 1.52 |
| 184 | Macrodactyly | Enrichment | PIK3CA | 1.52 |
| 185 | Proteus syndrome | Enrichment | AKT1 | 1.52 |
| 186 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 1.52 |
| 187 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 1.52 |
| 188 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 1.52 |
| 189 | Craniodiaphyseal dysplasia, autosomal dominant | Enrichment | SOST | 1.52 |
| 190 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 1.52 |
| 191 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 1.52 |
| 192 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 1.52 |
| 193 | Trigonocephaly 1 | Enrichment | FGFR1 | 1.52 |
| 194 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 1.52 |
| 195 | Donohue syndrome | Enrichment | INSR | 1.52 |
| 196 | Spinocerebellar ataxia 27a | Enrichment | FGF14 | 1.52 |
| 197 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 1.52 |
| 198 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 1.52 |
| 199 | Muenke syndrome | Enrichment | FGFR3 | 1.52 |
| 200 | Vacterl association with hydrocephalus | Enrichment | PTEN | 1.52 |
| 201 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 1.52 |
| 202 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 1.52 |
| 203 | Alport syndrome 1, x-linked | Enrichment | COL4A5 | 1.52 |
| 204 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 1.52 |
| 205 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 1.52 |
| 206 | Sclerosteosis 1 | Enrichment | SOST | 1.52 |
| 207 | Kabuki syndrome 2 | Enrichment | KDM6A | 1.52 |
| 208 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 1.52 |
| 209 | Focal dermal hypoplasia | Enrichment | PORCN | 1.52 |
| 210 | Noonan syndrome 5 | Enrichment | RAF1 | 1.52 |
| 211 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 1.52 |
| 212 | Hypomagnesemia 4, renal | Enrichment | EGF | 1.52 |
| 213 | Cinca syndrome | Enrichment | NLRP3 | 1.52 |
| 214 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 1.52 |
| 215 | Noonan syndrome 4 | Enrichment | SOS1 | 1.52 |
| 216 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 1.52 |
| 217 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 1.52 |
| 218 | Keratoendotheliitis fugax hereditaria | Enrichment | NLRP3 | 1.52 |
| 219 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 1.52 |
| 220 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 1.52 |
| 221 | Deafness, autosomal recessive 39 | Enrichment | HGF | 1.52 |
| 222 | Mastocytosis, cutaneous | Enrichment | KIT | 1.52 |
| 223 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 1.52 |
| 224 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 1.52 |
| 225 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 1.52 |
| 226 | Melanoma, uveal 2 | Enrichment | BAP1 | 1.52 |
| 227 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 1.52 |
| 228 | Melorheostosis, isolated | Enrichment | MAP2K1 | 1.52 |
| 229 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 1.52 |
| 230 | Omodysplasia 2 | Enrichment | FZD2 | 1.52 |
| 231 | Schwannomatosis, vestibular | Enrichment | NF2 | 1.52 |
| 232 | Apert syndrome | Enrichment | FGFR2 | 1.52 |
| 233 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 1.52 |
| 234 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 1.52 |
| 235 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 1.52 |
| 236 | Hyperpigmentation with or without hypopigmentation, familial progressive | Enrichment | KITLG | 1.52 |
| 237 | Memory quantitative trait locus | Enrichment | WWC1 | 1.52 |
| 238 | Familial cold autoinflammatory syndrome 1 | Enrichment | NLRP3 | 1.52 |
| 239 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 1.52 |
| 240 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 1.52 |
| 241 | Cowden syndrome 5 | Enrichment | PIK3CA | 1.52 |
| 242 | Parkinson disease 18, autosomal dominant | Enrichment | EIF4G1 | 1.52 |
| 243 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 1.52 |
| 244 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 1.52 |
| 245 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 1.52 |
| 246 | Nemaline myopathy 5a, autosomal recessive, severe infantile | Enrichment | TNNT1 | 1.52 |
| 247 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 1.52 |
| 248 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 1.52 |
| 249 | You-hoover-fong syndrome | Enrichment | TELO2 | 1.52 |
| 250 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 1.52 |
| 251 | Caudal duplication anomaly | Enrichment | AXIN1 | 1.52 |
| 252 | Lissencephaly 5 | Enrichment | LAMB1 | 1.52 |
| 253 | Hypogonadotropic hypogonadism 20 with or without anosmia | Enrichment | FGF17 | 1.52 |
| 254 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 1.52 |
| 255 | Vesicoureteral reflux 3 | Enrichment | SOX17 | 1.52 |
| 256 | Microcephaly 11, primary, autosomal recessive | Enrichment | PHC1 | 1.52 |
| 257 | Ectodermal dysplasia 13, hair/tooth type | Enrichment | KREMEN1 | 1.52 |
| 258 | Intellectual developmental disorder, autosomal dominant 23 | Enrichment | SETD5 | 1.52 |
| 259 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 1.52 |
| 260 | Gist-plus syndrome | Enrichment | PDGFRA | 1.52 |
| 261 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 1.52 |
| 262 | Accelerated tumor formation | Enrichment | MDM2 | 1.52 |
| 263 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 1.52 |
| 264 | Arrhythmogenic right ventricular dysplasia, familial, 13 | Enrichment | CTNNA3 | 1.52 |
| 265 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 1.52 |
| 266 | Muckle-wells syndrome | Enrichment | NLRP3 | 1.52 |
| 267 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 1.52 |
| 268 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 1.52 |
| 269 | Angioedema, hereditary, 5 | Enrichment | ANGPT1 | 1.52 |
| 270 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | Enrichment | ACTG2 | 1.52 |
| 271 | Luo-schoch-yamamoto syndrome | Enrichment | RNF2 | 1.52 |
| 272 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 1.52 |
| 273 | Pyle disease | Enrichment | SFRP4 | 1.52 |
| 274 | Noonan syndrome 13 | Enrichment | MAPK1 | 1.52 |
| 275 | Deafness, autosomal recessive 108 | Enrichment | ROR1 | 1.52 |
| 276 | Deafness, autosomal dominant 34, with or without inflammation | Enrichment | NLRP3 | 1.52 |
| 277 | Nephrotic syndrome, type 26 | Enrichment | LAMA5 | 1.52 |
| 278 | Developmental and epileptic encephalopathy 58 | Enrichment | NTRK2 | 1.52 |
| 279 | Neurodevelopmental disorder with microcephaly and movement abnormalities | Enrichment | TTI1 | 1.52 |
| 280 | Deafness, x-linked 6 | Enrichment | COL4A6 | 1.52 |
| 281 | Intellectual developmental disorder, x-linked 110 | Enrichment | FGF13 | 1.52 |
| 282 | Spinocerebellar ataxia 27b, late-onset | Enrichment | FGF14 | 1.52 |
| 283 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 1.52 |
| 284 | Intellectual developmental disorder, autosomal dominant 70 | Enrichment | SETD2 | 1.52 |
| 285 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 1.52 |
| 286 | Knobloch syndrome 2 | Enrichment | PAK2 | 1.52 |
| 287 | Cortical dysplasia, complex, with other brain malformations 9 | Enrichment | CTNNA2 | 1.52 |
| 288 | Lessel-kubisch syndrome | Enrichment | MDM2 | 1.52 |
| 289 | Bone marrow failure syndrome 6 | Enrichment | MDM4 | 1.52 |
| 290 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 1.52 |
| 291 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 1.52 |
| 292 | Hereditary lymphedema id | Enrichment | VEGFC | 1.52 |
| 293 | Winchester syndrome | Enrichment | MMP14 | 1.52 |
| 294 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 1.52 |
| 295 | Osteofibrous dysplasia | Enrichment | MET | 1.52 |
| 296 | Diarrhea 9 | Enrichment | WNT2B | 1.52 |
| 297 | Graft-versus-host disease | Enrichment | IL10 | 1.52 |
| 298 | Papilloma of choroid plexus | Enrichment | TP53 | 1.52 |
| 299 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 1.52 |
| 300 | Basal cell carcinoma 7 | Enrichment | TP53 | 1.52 |
| 301 | Porencephaly | Enrichment | COL4A1 | 1.52 |
| 302 | Imagawa-matsumoto syndrome | Enrichment | SUZ12 | 1.52 |
| 303 | Intellectual developmental disorder, x-linked 106 | Enrichment | OGT | 1.52 |
| 304 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 1.52 |
| 305 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 1.52 |
| 306 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 1.52 |
| 307 | Developmental and epileptic encephalopathy 90 | Enrichment | FGF13 | 1.52 |
| 308 | Cardiomyopathy, familial hypertrophic, 6 | Enrichment | PRKAG2 | 1.52 |
| 309 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 1.52 |
| 310 | Lymphatic malformation 4 | Enrichment | VEGFC | 1.52 |
| 311 | Intellectual developmental disorder, autosomal recessive 54 | Enrichment | TNIK | 1.52 |
| 312 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 1.52 |
| 313 | Papillary tumor of the pineal region | Enrichment | PTEN | 1.52 |
| 314 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 1.52 |
| 315 | Glycogen storage disease of heart, lethal congenital | Enrichment | PRKAG2 | 1.52 |
| 316 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 1.52 |
| 317 | Familial isolated trichomegaly | Enrichment | FGF5 | 1.52 |
| 318 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 1.52 |
| 319 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 1.52 |
| 320 | Deafness, autosomal recessive 97 | Enrichment | MET | 1.52 |
| 321 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 1.52 |
| 322 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 1.52 |
| 323 | Skin/hair/eye pigmentation, variation in, 7 | Enrichment | KITLG | 1.52 |
| 324 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 1.52 |
| 325 | Thrombocytopenia 4 | Enrichment | CYCS | 1.52 |
| 326 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 1.52 |
| 327 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 1.52 |
| 328 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 1.52 |
| 329 | Santos syndrome | Enrichment | WNT7A | 1.52 |
| 330 | Becker nevus syndrome | Enrichment | ACTB | 1.52 |
| 331 | Hypotrichosis and recurrent skin vesicles | Enrichment | DSC3 | 1.52 |
| 332 | Melorheostosis | Enrichment | MAP2K1 | 1.52 |
| 333 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 1.52 |
| 334 | Autism 9 | Enrichment | MET | 1.52 |
| 335 | Visceral neuropathy, familial, 3, autosomal dominant | Enrichment | ACTG2 | 1.52 |
| 336 | Leopard syndrome 2 | Enrichment | RAF1 | 1.52 |
| 337 | Coronary heart disease 6 | Enrichment | MMP3 | 1.52 |
| 338 | Multiple synostoses syndrome 3 | Enrichment | FGF9 | 1.52 |
| 339 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 1.52 |
| 340 | Cortical malformations, occipital | Enrichment | LAMC3 | 1.52 |
| 341 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 1.52 |
| 342 | Immunodeficiency 31a | Enrichment | STAT1 | 1.52 |
| 343 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 1.52 |
| 344 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 1.52 |
| 345 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 1.52 |
| 346 | Polydactyly-macrocephaly syndrome | Enrichment | MAX | 1.52 |
| 347 | Cowden syndrome 6 | Enrichment | AKT1 | 1.52 |
| 348 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 1.52 |
| 349 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 1.52 |
| 350 | Autosomal dominant familial visceral neuropathy | Enrichment | ACTG2 | 1.52 |
| 351 | Acute myeloid leukemia with minimal differentiation | Enrichment | FLT3 | 1.52 |
| 352 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 1.52 |
| 353 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 1.52 |
| 354 | Endometrial serous adenocarcinoma | Enrichment | ATM | 1.52 |
| 355 | Immunodeficiency 31b | Enrichment | STAT1 | 1.52 |
| 356 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 1.52 |
| 357 | Obesity, hyperphagia, and developmental delay | Enrichment | NTRK2 | 1.52 |
| 358 | Glioma susceptibility 2 | Enrichment | PTEN | 1.52 |
| 359 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 1.52 |
| 360 | Ductal carcinoma in situ | Enrichment | TP53 | 1.52 |
| 361 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 1.52 |
| 362 | Kleefstra syndrome 2 | Enrichment | KMT2C | 1.52 |
| 363 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | Enrichment | FGF23 | 1.52 |
| 364 | Hartsfield syndrome | Enrichment | FGFR1 | 1.52 |
| 365 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 1.52 |
| 366 | Renal hypodysplasia/aplasia 2 | Enrichment | FGF20 | 1.52 |
| 367 | Thrombocytopenia 6 | Enrichment | SRC | 1.52 |
| 368 | Cohen-gibson syndrome | Enrichment | EED | 1.52 |
| 369 | Okur-chung neurodevelopmental syndrome | Enrichment | CSNK2A1 | 1.52 |
| 370 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 1.52 |
| 371 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 1.52 |
| 372 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 1.52 |
| 373 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | Enrichment | CSF1R | 1.52 |
| 374 | Developmental and epileptic encephalopathy 47 | Enrichment | FGF12 | 1.52 |
| 375 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 1.52 |
| 376 | Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | Enrichment | PIGF | 1.52 |
| 377 | Nemaline myopathy 5b, autosomal recessive, childhood-onset | Enrichment | TNNT1 | 1.52 |
| 378 | Chronic mast cell leukemia | Enrichment | KIT | 1.52 |
| 379 | Autosomal recessive dyskeratosis congenita 4 | Enrichment | TERT | 1.52 |
| 380 | Trigonitis | Enrichment | RAF1 | 1.52 |
| 381 | Bent bone dysplasia syndrome 2 | Enrichment | LAMA5 | 1.52 |
| 382 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 1.52 |
| 383 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 1.52 |
| 384 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 1.52 |
| 385 | Tufted angioma of skin | Enrichment | KDR | 1.52 |
| 386 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 1.52 |
| 387 | Deafness, autosomal dominant 69 | Enrichment | KITLG | 1.52 |
| 388 | Luscan-lumish syndrome | Enrichment | SETD2 | 1.52 |
| 389 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 1.52 |
| 390 | Hereditary hypotrichosis with recurrent skin vesicles | Enrichment | DSC3 | 1.52 |
| 391 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 1.52 |
| 392 | Arthrogryposis, distal, type 11 | Enrichment | MET | 1.52 |
| 393 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 1.52 |
| 394 | Baraitser-winter syndrome | Enrichment | ACTB | 1.52 |
| 395 | Rabin-pappas syndrome | Enrichment | SETD2 | 1.52 |
| 396 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 1.52 |
| 397 | Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | Enrichment | MAD1L1 | 1.52 |
| 398 | Csf1r-related disorder | Enrichment | CSF1R | 1.52 |
| 399 | Immunodeficiency 125 | Enrichment | FLT3LG | 1.52 |
| 400 | Col4a1-related disorders | Enrichment | COL4A1 | 1.52 |
| 401 | Occipital pachygyria and polymicrogyria | Enrichment | LAMC3 | 1.52 |
| 402 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 1.52 |
| 403 | Nemaline myopathy 5a | Enrichment | TNNT1 | 1.52 |
| 404 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 1.52 |
| 405 | Hypospadias | Enrichment | PIK3CA | 1.52 |
| 406 | Bockenheimer syndrome | Enrichment | TEK | 1.52 |
| 407 | Craniodigital syndrome and intellectual disability syndrome | Enrichment | CSNK2B | 1.52 |
| 408 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 1.52 |
| 409 | Capillary hemangioma | Enrichment | AKT3 | 1.52 |
| 410 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 1.52 |
| 411 | Pulmonary hypertension, primary, 7 | Enrichment | SOX17 | 1.52 |
| 412 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 1.52 |
| 413 | Autoimmune disease, multisystem, infantile-onset, 5 | Enrichment | CD274 | 1.52 |
| 414 | Breast lobular carcinoma | Enrichment | CDH1 | 1.52 |
| 415 | Isolated bone marrow mastocytosis | Enrichment | KIT | 1.52 |
| 416 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 1.52 |
| 417 | Smoldering systemic mastocytosis | Enrichment | KIT | 1.52 |
| 418 | Cerebral cavernous malformations 5 | Enrichment | MAP3K3 | 1.52 |
| 419 | Choroid plexus cancer | Enrichment | TP53 | 1.52 |
| 420 | Rare venous malformation | Enrichment | PIK3CA | 1.52 |
| 421 | Fetomaternal alloimmune thrombocytopenia 3 | Enrichment | ITGA2 | 1.52 |
| 422 | Col4a1 or col4a2-related cerebral small vessel disease | Enrichment | COL4A1 | 1.52 |
| 423 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 1.52 |
| 424 | Familial adenomatous polyposis | Enrichment | APC | 1.52 |
| 425 | Zebra body myopathy | Enrichment | ACTA1 | 1.52 |
| 426 | Spinocerebellar ataxia type 27b | Enrichment | FGF14 | 1.52 |
| 427 | Diaphragmatic eventration | Enrichment | PIK3CA | 1.52 |
| 428 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 1.52 |
| 429 | Acoustic neuroma | Enrichment | NF2 | 1.52 |
| 430 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 1.52 |
| 431 | X-linked alport syndrome | Enrichment | COL4A5 | 1.52 |
| 432 | Mastocytosis | Enrichment | KIT | 1.52 |
| 433 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 1.52 |
| 434 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 1.52 |
| 435 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 1.52 |
| 436 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 1.52 |
| 437 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 1.52 |
| 438 | Cryopyrin associated periodic syndrome | Enrichment | NLRP3 | 1.52 |
| 439 | Familial progressive hyperpigmentation | Enrichment | KITLG | 1.52 |
| 440 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | Enrichment | CSF1R | 1.52 |
| 441 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 1.52 |
| 442 | Rare combined vascular malformation | Enrichment | PIK3CA | 1.52 |
| 443 | Cavernous lymphangioma | Enrichment | PIK3CA | 1.52 |
| 444 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 1.52 |
| 445 | Cleft lip | Enrichment | SETD5 | 1.52 |
| 446 | Cutaneous mastocytoma | Enrichment | KIT | 1.52 |
| 447 | Familial amyloid nephropathy with urticaria and deafness | Enrichment | NLRP3 | 1.52 |
| 448 | Gardner syndrome | Enrichment | APC | 1.52 |
| 449 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 1.52 |
| 450 | Typical urticaria pigmentosa | Enrichment | KIT | 1.52 |
| 451 | 5q22 microdeletion syndrome | Enrichment | APC | 1.52 |
| 452 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 1.52 |
| 453 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 1.52 |
| 454 | Actin-accumulation myopathy | Enrichment | ACTA1 | 1.52 |
| 455 | Attenuated familial adenomatous polyposis | Enrichment | APC | 1.52 |
| 456 | Nodular urticaria pigmentosa | Enrichment | KIT | 1.52 |
| 457 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 1.52 |
| 458 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 1.52 |
| 459 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 1.52 |
| 460 | Verrucous hemangioma | Enrichment | MAP3K3 | 1.52 |
| 461 | Lama5-related multisystemic syndrome | Enrichment | LAMA5 | 1.52 |
| 462 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 1.52 |
| 463 | Acute mast cell leukemia | Enrichment | KIT | 1.52 |
| 464 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 1.52 |
| 465 | Myopathic intestinal pseudoobstruction | Enrichment | ACTG2 | 1.52 |
| 466 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 1.52 |
| 467 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 1.52 |
| 468 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 1.52 |
| 469 | Familial progressive hyper- and hypopigmentation | Enrichment | KITLG | 1.52 |
| 470 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 1.52 |
| 471 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 1.52 |
| 472 | Macrodactyly of toe | Enrichment | PIK3CA | 1.52 |
| 473 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 1.52 |
| 474 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 1.52 |
| 475 | Microcystic stromal tumor | Enrichment | CTNNB1 | 1.52 |
| 476 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 1.52 |
| 477 | Actg2 visceral myopathy | Enrichment | ACTG2 | 1.52 |
| 478 | Laminin subunit alpha 2-related muscular dystrophy | Enrichment | LAMA2 | 1.52 |
| 479 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 1.52 |
| 480 | Testis seminoma | Enrichment | KIT | 1.52 |
| 481 | Brittle bone disorder | Enrichment | LRP5, SERPINF1, WNT1 | 1.51 |
| 482 | Kallmann syndrome | Enrichment | FGF17, FGF8, FGFR1 | 1.51 |
| 483 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, FLT3, MYC | 1.51 |
| 484 | Cat eye syndrome | Enrichment | ACTG1, FZD5 | 1.46 |
| 485 | Polymicrogyria | Enrichment | AKT3, SETD5 | 1.46 |
| 486 | Melanoma | Enrichment | CDKN2A, PTEN | 1.46 |
| 487 | Type 2 diabetes mellitus | Enrichment | AKT2, IL6, INSR, TCF7L2 | 1.43 |
| 488 | Distal arthrogryposis | Enrichment | ACTA1, ACTC1, FZD3, ROR2 | 1.43 |
| 489 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A, FLT3 | 1.38 |
| 490 | Myelodysplastic syndrome | Enrichment | ASXL1, TP53 | 1.38 |
| 491 | Specific learning disability | Enrichment | MAPK1, RPS6KA3 | 1.38 |
| 492 | West syndrome | Enrichment | CSNK1E, NTRK2, SLC2A1, TSC2 | 1.37 |
| 493 | Differentiated thyroid carcinoma | Enrichment | HRAS, NTRK1, TERT | 1.25 |
| 494 | Microphthalmia/coloboma 12 | Enrichment | FZD5, YAP1 | 1.25 |
| 495 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1 | 1.25 |
| 496 | Chronic kidney disease | Enrichment | COL4A4, COL4A5 | 1.25 |
| 497 | Lymphatic malformation 1 | Enrichment | FLT4 | 1.23 |
| 498 | Amelogenesis imperfecta, type ia | Enrichment | LAMB3 | 1.23 |
| 499 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.23 |
| 500 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.23 |
| 501 | Leukocyte adhesion deficiency, type i | Enrichment | ITGB2 | 1.23 |
| 502 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.23 |
| 503 | Burkitt lymphoma | Enrichment | MYC | 1.23 |
| 504 | Blue rubber bleb nevus | Enrichment | TEK | 1.23 |
| 505 | Sveinsson chorioretinal atrophy | Enrichment | TEAD1 | 1.23 |
| 506 | Anemia, congenital dyserythropoietic, type iiia | Enrichment | KIF23 | 1.23 |
| 507 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.23 |
| 508 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.23 |
| 509 | Otodental dysplasia | Enrichment | FGF3 | 1.23 |
| 510 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 1.23 |
| 511 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 1.23 |
| 512 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.23 |
| 513 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.23 |
| 514 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.23 |
| 515 | Costello syndrome | Enrichment | HRAS | 1.23 |
| 516 | Insensitivity to pain, congenital, with anhidrosis | Enrichment | NTRK1 | 1.23 |
| 517 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.23 |
| 518 | Trichomegaly | Enrichment | FGF5 | 1.23 |
| 519 | Craniodiaphyseal dysplasia | Enrichment | SOST | 1.23 |
| 520 | Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous | Enrichment | LAMA3 | 1.23 |
| 521 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 1.23 |
| 522 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 1.23 |
| 523 | Kyphomelic dysplasia | Enrichment | CCN2 | 1.23 |
| 524 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 1.23 |
| 525 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 1.23 |
| 526 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.23 |
| 527 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.23 |
| 528 | Dystonia 9 | Enrichment | SLC2A1 | 1.23 |
| 529 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 1.23 |
| 530 | Quebec platelet disorder | Enrichment | PLAU | 1.23 |
| 531 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 1.23 |
| 532 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 1.23 |
| 533 | Pulmonic stenosis | Enrichment | SOS1 | 1.23 |
| 534 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.23 |
| 535 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.23 |
| 536 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 1.23 |
| 537 | Cardiomyopathy, dilated, 1r | Enrichment | ACTC1 | 1.23 |
| 538 | Schwannomatosis 1 | Enrichment | NF2 | 1.23 |
| 539 | Piebald trait | Enrichment | KIT | 1.23 |
| 540 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 1.23 |
| 541 | Aural atresia, congenital | Enrichment | FGFR2 | 1.23 |
| 542 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 1.23 |
| 543 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.23 |
| 544 | Cardiomyopathy, familial hypertrophic, 11 | Enrichment | ACTC1 | 1.23 |
| 545 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.23 |
| 546 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 1.23 |
| 547 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 1.23 |
| 548 | Leukocyte adhesion deficiency, type iii | Enrichment | ITGB2 | 1.23 |
| 549 | Lissencephaly 1 | Enrichment | LAMB1 | 1.23 |
| 550 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.23 |
| 551 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.23 |
| 552 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 1.23 |
| 553 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.23 |
| 554 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.23 |
| 555 | Specific language impairment 5 | Enrichment | COL4A4 | 1.23 |
| 556 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | Enrichment | TERT | 1.23 |
| 557 | Silver-russell syndrome 3 | Enrichment | IGF2 | 1.23 |
| 558 | Angioma, tufted | Enrichment | KDR | 1.23 |
| 559 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 1.23 |
| 560 | Moyamoya disease 5 | Enrichment | ACTA2 | 1.23 |
| 561 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.23 |
| 562 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 1.23 |
| 563 | Pierson syndrome | Enrichment | LAMB2 | 1.23 |
| 564 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.23 |
| 565 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.23 |
| 566 | Atrial septal defect 5 | Enrichment | ACTC1 | 1.23 |
| 567 | Immunodeficiency 31c | Enrichment | STAT1 | 1.23 |
| 568 | Pain sensitivity quantitative trait locus 1 | Enrichment | NTRK1 | 1.23 |
| 569 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.23 |
| 570 | Spondyloepimetaphyseal dysplasia, li-shao-li type | Enrichment | CCN2 | 1.23 |
| 571 | Charcot-marie-tooth disease, demyelinating, type 4d | Enrichment | NDRG1 | 1.23 |
| 572 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | Enrichment | COL4A2 | 1.23 |
| 573 | Epidermolysis bullosa, junctional 3b, severe | Enrichment | LAMC2 | 1.23 |
| 574 | Epidermolysis bullosa, junctional 3a, intermediate | Enrichment | LAMC2 | 1.23 |
| 575 | Gabriele-de vries syndrome | Enrichment | YY1 | 1.23 |
| 576 | Waardenburg syndrome, type 2f | Enrichment | KITLG | 1.23 |
| 577 | Hyperproinsulinemia | Enrichment | INS | 1.23 |
| 578 | Nemaline myopathy 5c, autosomal dominant | Enrichment | TNNT1 | 1.23 |
| 579 | Epidermolysis bullosa, junctional 2a, intermediate | Enrichment | LAMA3 | 1.23 |
| 580 | Epidermolysis bullosa, junctional 5a, intermediate | Enrichment | ITGB4 | 1.23 |
| 581 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 1.23 |
| 582 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 1.23 |
| 583 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 1.23 |
| 584 | Poirier-bienvenu neurodevelopmental syndrome | Enrichment | CSNK2B | 1.23 |
| 585 | Cebalid syndrome | Enrichment | MTOR | 1.23 |
| 586 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.23 |
| 587 | Infantile myofibromatosis | Enrichment | PDGFRB | 1.23 |
| 588 | Bohring-opitz syndrome | Enrichment | ASXL1 | 1.23 |
| 589 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.23 |
| 590 | Retinitis pigmentosa 14 | Enrichment | TEAD3 | 1.23 |
| 591 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 1.23 |
| 592 | Pancreatic cancer 4 | Enrichment | BRCA1 | 1.23 |
| 593 | Sclerosteosis | Enrichment | SOST | 1.23 |
| 594 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 1.23 |
| 595 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 1.23 |
| 596 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.23 |
| 597 | Kleefstra syndrome | Enrichment | KMT2C | 1.23 |
| 598 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.23 |
| 599 | Osteogenesis imperfecta, type xvii | Enrichment | SPARC | 1.23 |
| 600 | Papillary renal cell carcinoma | Enrichment | MET | 1.23 |
| 601 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.23 |
| 602 | Congenital fibrosarcoma | Enrichment | TP53 | 1.23 |
| 603 | Glomerulonephritis | Enrichment | COL4A4 | 1.23 |
| 604 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.23 |
| 605 | High grade glioma | Enrichment | ATM | 1.23 |
| 606 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.23 |
| 607 | Sarcoma | Enrichment | TP53 | 1.23 |
| 608 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 1.23 |
| 609 | Pericardial effusion | Enrichment | NLRP3 | 1.23 |
| 610 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 1.23 |
| 611 | Developmental and epileptic encephalopathy 78 | Enrichment | YY1 | 1.23 |
| 612 | Melanoma, cutaneous malignant 9 | Enrichment | TERT | 1.23 |
| 613 | Periampullary adenoma | Enrichment | APC | 1.23 |
| 614 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.23 |
| 615 | Immune system disease | Enrichment | PIK3CD | 1.23 |
| 616 | Hodgkin's lymphoma | Enrichment | TP53 | 1.23 |
| 617 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.23 |
| 618 | Insulinoma | Enrichment | YY1 | 1.23 |
| 619 | T-cell prolymphocytic leukemia | Enrichment | ATM | 1.23 |
| 620 | Epidermolysis bullosa, junctional 2b, severe | Enrichment | LAMA3 | 1.23 |
| 621 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.23 |
| 622 | 14q11.2 microduplication syndrome | Enrichment | CHD8 | 1.23 |
| 623 | Hereditary lymphedema i | Enrichment | FLT4 | 1.23 |
| 624 | Idiopathic interstitial pneumonia | Enrichment | TERT | 1.23 |
| 625 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 1.23 |
| 626 | 3p25.3 microdeletion syndrome | Enrichment | SETD5 | 1.23 |
| 627 | Acute myeloid leukemia without maturation | Enrichment | FLT3 | 1.23 |
| 628 | Lymphatic malformation 10 | Enrichment | ANGPT2 | 1.23 |
| 629 | Kury-isidor syndrome | Enrichment | BAP1 | 1.23 |
| 630 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.23 |
| 631 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.23 |
| 632 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.23 |
| 633 | Peritoneum cancer | Enrichment | BRCA1 | 1.23 |
| 634 | Charcot-marie-tooth disease type 4d | Enrichment | NDRG1 | 1.23 |
| 635 | Bilateral breast cancer | Enrichment | BRCA1 | 1.23 |
| 636 | Localized junctional epidermolysis bullosa, non-herlitz type | Enrichment | ITGB4 | 1.23 |
| 637 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.23 |
| 638 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.23 |
| 639 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.23 |
| 640 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.23 |
| 641 | 3q26 microduplication syndrome | Enrichment | SETD5 | 1.23 |
| 642 | Kleefstra syndrome due to a point mutation | Enrichment | KMT2C | 1.23 |
| 643 | Teratoma | Enrichment | CTNNB1 | 1.23 |
| 644 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.23 |
| 645 | Osteosclerosis | Enrichment | LRP5 | 1.23 |
| 646 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.23 |
| 647 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | FLT3 | 1.23 |
| 648 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 1.23 |
| 649 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.23 |
| 650 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.23 |
| 651 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 1.23 |
| 652 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.23 |
| 653 | Tafro syndrome | Enrichment | MAP2K2 | 1.23 |
| 654 | Oculootodental syndrome | Enrichment | FGF3 | 1.23 |
| 655 | Intestinal obstruction | Enrichment | ACTG2 | 1.23 |
| 656 | Wooly hair nevus | Enrichment | HRAS | 1.23 |
| 657 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 1.23 |
| 658 | Medulloblastoma | Enrichment | APC, CTNNB1 | 1.19 |
| 659 | Cleft lip/palate | Enrichment | CDH1, PDGFRA | 1.19 |
| 660 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1, SOS1 | 1.19 |
| 661 | Isolated macular dystrophy | Enrichment | COL4A5, ITGA4 | 1.19 |
| 662 | Primary autosomal recessive microcephaly | Enrichment | ANGPT2, CIT, PHC1 | 1.15 |
| 663 | Coloboma of macula | Enrichment | FZD5, YAP1 | 1.13 |
| 664 | Corpus callosum, agenesis of | Enrichment | COL4A1, SETD2 | 1.13 |
| 665 | Osteogenesis imperfecta, type iii | Enrichment | SERPINF1, WNT1 | 1.13 |
| 666 | Isolated corpus callosum agenesis | Enrichment | COL4A1, SETD2 | 1.13 |
| 667 | Rare genetic intellectual disability | Enrichment | CHD8, MTOR | 1.13 |
| 668 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | COL4A1, SETD2 | 1.13 |
| 669 | Familial hypertrophic cardiomyopathy | Enrichment | ACTC1, PRKAG2, RAF1 | 1.12 |
| 670 | Hypertension | Enrichment | COL4A4, COL4A5 | 1.08 |
| 671 | Microform holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.08 |
| 672 | Lobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.08 |
| 673 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.06 |
| 674 | Achondroplasia | Enrichment | FGFR3 | 1.06 |
| 675 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.06 |
| 676 | Prognathism, mandibular | Enrichment | CSNK2B | 1.06 |
| 677 | Retinal arteries, tortuosity of | Enrichment | COL4A1 | 1.06 |
| 678 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.06 |
| 679 | Larsen syndrome | Enrichment | FGFR3 | 1.06 |
| 680 | Thyroid carcinoma, familial medullary | Enrichment | NTRK1 | 1.06 |
| 681 | Mesothelioma, malignant | Enrichment | BAP1 | 1.06 |
| 682 | Ataxia-telangiectasia | Enrichment | ATM | 1.06 |
| 683 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | Enrichment | FGF23 | 1.06 |
| 684 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.06 |
| 685 | Hypophosphatemic rickets, autosomal dominant | Enrichment | FGF23 | 1.06 |
| 686 | Polycythemia vera | Enrichment | ATM | 1.06 |
| 687 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.06 |
| 688 | Methylmalonic aciduria and homocystinuria, cblx type | Enrichment | HCFC1 | 1.06 |
| 689 | Leukoencephalopathy, hereditary diffuse, with spheroids 1 | Enrichment | CSF1R | 1.06 |
| 690 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.06 |
| 691 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.06 |
| 692 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.06 |
| 693 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 1.06 |
| 694 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.06 |
| 695 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.06 |
| 696 | Nuchal bleb, familial | Enrichment | SOS1 | 1.06 |
| 697 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.06 |
| 698 | Osteogenic sarcoma | Enrichment | TP53 | 1.06 |
| 699 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 1.06 |
| 700 | Muscular dystrophy, congenital merosin-deficient, 1a | Enrichment | LAMA2 | 1.06 |
| 701 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.06 |
| 702 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.06 |
| 703 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.06 |
| 704 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.06 |
| 705 | Brain small vessel disease 2 | Enrichment | COL4A2 | 1.06 |
| 706 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.06 |
| 707 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.06 |
| 708 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.06 |
| 709 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD | 1.06 |
| 710 | Osteogenesis imperfecta, type vi | Enrichment | SERPINF1 | 1.06 |
| 711 | Tumor predisposition syndrome 1 | Enrichment | BAP1 | 1.06 |
| 712 | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | Enrichment | COL4A1 | 1.06 |
| 713 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.06 |
| 714 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.06 |
| 715 | Pilarowski-bjornsson syndrome | Enrichment | COL4A3 | 1.06 |
| 716 | Alport syndrome 3b, autosomal recessive | Enrichment | COL4A3 | 1.06 |
| 717 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.06 |
| 718 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1 | 1.06 |
| 719 | Koolen-de vries syndrome | Enrichment | ATM | 1.06 |
| 720 | Poretti-boltshauser syndrome | Enrichment | LAMA1 | 1.06 |
| 721 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 1.06 |
| 722 | Interstitial lung disease | Enrichment | TERT | 1.06 |
| 723 | Nail disease | Enrichment | FZD6 | 1.06 |
| 724 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Enrichment | COL4A1 | 1.06 |
| 725 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.06 |
| 726 | Anaplastic astrocytoma | Enrichment | TP53 | 1.06 |
| 727 | Xanthinuria, type ii | Enrichment | TSC2 | 1.06 |
| 728 | Immunodeficiency 14 | Enrichment | PIK3CD | 1.06 |
| 729 | Myxoid liposarcoma | Enrichment | DDIT3 | 1.06 |
| 730 | Squamous cell carcinoma | Enrichment | TP53 | 1.06 |
| 731 | Cellular ependymoma | Enrichment | NF2 | 1.06 |
| 732 | Tanycytic ependymoma | Enrichment | NF2 | 1.06 |
| 733 | Macrocytic anemia | Enrichment | TERT | 1.06 |
| 734 | Papillary ependymoma | Enrichment | NF2 | 1.06 |
| 735 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.06 |
| 736 | Hematuria, benign familial, 2 | Enrichment | COL4A3 | 1.06 |
| 737 | Familial vesicoureteral reflux | Enrichment | SOX17 | 1.06 |
| 738 | Microcephaly 17, primary, autosomal recessive | Enrichment | CIT | 1.06 |
| 739 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.06 |
| 740 | Bone osteosarcoma | Enrichment | TP53 | 1.06 |
| 741 | Bap1 tumor predisposition syndrome | Enrichment | BAP1 | 1.06 |
| 742 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.06 |
| 743 | Atypical juvenile parkinsonism | Enrichment | PODXL | 1.06 |
| 744 | Tetraamelia syndrome | Enrichment | WNT3 | 1.06 |
| 745 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.06 |
| 746 | Colon adenocarcinoma | Enrichment | APC | 1.06 |
| 747 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.06 |
| 748 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.06 |
| 749 | Melanoma of soft tissue | Enrichment | CREB1 | 1.06 |
| 750 | Spindle cell sarcoma | Enrichment | NF2 | 1.06 |
| 751 | Mixed phenotype acute leukemia with t | Enrichment | FLT3 | 1.06 |
| 752 | Clear cell ependymoma | Enrichment | NF2 | 1.06 |
| 753 | Renal cell carcinoma | Enrichment | MET | 1.06 |
| 754 | Enchondromatosis | Enrichment | HIF1A | 1.06 |
| 755 | Testicular cancer | Enrichment | FGFR3 | 1.06 |
| 756 | Keratoacanthoma | Enrichment | PIK3CA | 1.06 |
| 757 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 1.06 |
| 758 | Apc-associated polyposis conditions | Enrichment | APC | 1.06 |
| 759 | Lama2-related muscular dystrophy | Enrichment | LAMA2 | 1.06 |
| 760 | Alzheimer disease, familial, 1 | Enrichment | CSF1R, PLAU | 1.04 |
| 761 | Dandy-walker syndrome | Enrichment | PDGFRB, SETD2 | 1.04 |
| 762 | Semilobar holoprosencephaly | Enrichment | FGF8, FGFR1 | 1.00 |
| 763 | Cerebral palsy | Enrichment | COL4A1, COL4A2, PDGFRB | 0.95 |
| 764 | Kaposi sarcoma | Enrichment | IL6 | 0.94 |
| 765 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 0.94 |
| 766 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DVL2 | 0.94 |
| 767 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 0.94 |
| 768 | Small cell cancer of the lung | Enrichment | TP53 | 0.94 |
| 769 | Nemaline myopathy 2 | Enrichment | ACTA1 | 0.94 |
| 770 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | ACTG2 | 0.94 |
| 771 | Schizencephaly | Enrichment | COL4A1 | 0.94 |
| 772 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 0.94 |
| 773 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 0.94 |
| 774 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 0.94 |
| 775 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 0.94 |
| 776 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 0.94 |
| 777 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 0.94 |
| 778 | Epidermolysis bullosa simplex 5c, with pyloric atresia | Enrichment | ITGB4 | 0.94 |
| 779 | Pilomatrixoma | Enrichment | CTNNB1 | 0.94 |
| 780 | Retinitis pigmentosa 26 | Enrichment | ITGA4 | 0.94 |
| 781 | Cholangiocarcinoma | Enrichment | BRCA1 | 0.94 |
| 782 | Barrett esophagus | Enrichment | CTHRC1 | 0.94 |
| 783 | Aminoacylase 1 deficiency | Enrichment | ACTB | 0.94 |
| 784 | Alazami syndrome | Enrichment | CTNNB1 | 0.94 |
| 785 | Enophthalmos | Enrichment | CSNK2B | 0.94 |
| 786 | Multiple synostoses syndrome | Enrichment | FGF9 | 0.94 |
| 787 | Syndactyly | Enrichment | CSNK2B | 0.94 |
| 788 | Neonatal diabetes mellitus | Enrichment | INS | 0.94 |
| 789 | Intellectual developmental disorder with autism and macrocephaly | Enrichment | CHD8 | 0.94 |
| 790 | Orofacial cleft | Enrichment | LRP6 | 0.94 |
| 791 | Ectodermal dysplasia | Enrichment | WNT10A | 0.94 |
| 792 | Ciliary dyskinesia, primary, 22 | Enrichment | RASSF1 | 0.94 |
| 793 | Cerebrovascular disease | Enrichment | PIK3CA | 0.94 |
| 794 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 0.94 |
| 795 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 0.94 |
| 796 | Epidermolytic nevus | Enrichment | HRAS | 0.94 |
| 797 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 0.94 |
| 798 | Knobloch syndrome | Enrichment | PAK2 | 0.94 |
| 799 | Eyelid coloboma | Enrichment | FZD5 | 0.94 |
| 800 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 0.94 |
| 801 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 0.94 |
| 802 | Full schwannomatosis | Enrichment | NF2 | 0.94 |
| 803 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 0.94 |
| 804 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 0.94 |
| 805 | Vitreoretinopathy | Enrichment | LRP5 | 0.94 |
| 806 | Benign ependymoma | Enrichment | NF2 | 0.94 |
| 807 | Orofacial clefting syndrome | Enrichment | LRP6 | 0.94 |
| 808 | Rare x-linked non-syndromic sensorineural deafness type dfn | Enrichment | COL4A6 | 0.94 |
| 809 | Gingival fibromatosis | Enrichment | SOS1 | 0.94 |
| 810 | Hereditary angioedema with normal c1inh not related to f12 or plg variant | Enrichment | ANGPT1 | 0.94 |
| 811 | Oculomotor apraxia | Enrichment | ATM | 0.94 |
| 812 | Lens coloboma | Enrichment | FZD5 | 0.94 |
| 813 | Macs syndrome | Enrichment | PORCN, WNT7B | 0.92 |
| 814 | Focal segmental glomerulosclerosis | Enrichment | COL4A4, COL4A5 | 0.92 |
| 815 | Cataract 6, multiple types | Enrichment | EPHA2 | 0.85 |
| 816 | Capillary malformations, congenital | Enrichment | PIK3CA | 0.85 |
| 817 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 0.85 |
| 818 | Alzheimer disease 2 | Enrichment | PLAU | 0.85 |
| 819 | Kbg syndrome | Enrichment | SETD5 | 0.85 |
| 820 | Visceral myopathy 1 | Enrichment | ACTG2 | 0.85 |
| 821 | Epidermolysis bullosa simplex 1c, localized | Enrichment | ITGB4 | 0.85 |
| 822 | Von hippel-lindau syndrome | Enrichment | CCND1 | 0.85 |
| 823 | Microcephaly 1, primary, autosomal recessive | Enrichment | ANGPT2 | 0.85 |
| 824 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 0.85 |
| 825 | Parkinson disease 2, autosomal recessive juvenile | Enrichment | PODXL | 0.85 |
| 826 | Norrie disease | Enrichment | PRSS23 | 0.85 |
| 827 | Macrocephaly/autism syndrome | Enrichment | PTEN | 0.85 |
| 828 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 0.85 |
| 829 | Myasthenic syndrome, congenital, 4a, slow-channel | Enrichment | MINK1 | 0.85 |
| 830 | Knobloch syndrome 1 | Enrichment | PAK2 | 0.85 |
| 831 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 0.85 |
| 832 | Familial adenomatous polyposis 1 | Enrichment | APC | 0.85 |
| 833 | Cholangitis, primary sclerosing | Enrichment | MST1 | 0.85 |
| 834 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 0.85 |
| 835 | Muscular dystrophy, limb-girdle, autosomal recessive 23 | Enrichment | LAMA2 | 0.85 |
| 836 | Pre-eclampsia | Enrichment | FLT1 | 0.85 |
| 837 | Follicular lymphoma | Enrichment | BCL2 | 0.85 |
| 838 | Lymphoma | Enrichment | TP53 | 0.85 |
| 839 | Congenital ptosis | Enrichment | CHD8 | 0.85 |
| 840 | Myasthenic syndrome, congenital, 4b, fast-channel | Enrichment | MINK1 | 0.85 |
| 841 | Glioblastoma | Enrichment | ATM | 0.85 |
| 842 | Hemangioma | Enrichment | PTEN | 0.85 |
| 843 | Parkin type of early-onset parkinson disease | Enrichment | PODXL | 0.85 |
| 844 | Aplasia cutis congenita | Enrichment | ITGB4 | 0.85 |
| 845 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 0.85 |
| 846 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 0.85 |
| 847 | Aniridia | Enrichment | EPHA2 | 0.85 |
| 848 | Aggressive systemic mastocytosis | Enrichment | ASXL1 | 0.85 |
| 849 | Diffuse cutaneous systemic sclerosis | Enrichment | CCN2 | 0.85 |
| 850 | Endometrial stromal sarcoma | Enrichment | SUZ12 | 0.85 |
| 851 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 0.85 |
| 852 | Idiopathic aplastic anemia | Enrichment | TERT | 0.85 |
| 853 | Dyskeratosis congenita, autosomal dominant 1 | Enrichment | TERT | 0.78 |
| 854 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 0.78 |
| 855 | Coloboma of optic nerve | Enrichment | FZD5 | 0.78 |
| 856 | Kabuki syndrome 1 | Enrichment | KDM6A | 0.78 |
| 857 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 0.78 |
| 858 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 0.78 |
| 859 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF | 0.78 |
| 860 | Moyamoya disease 1 | Enrichment | ACTA2 | 0.78 |
| 861 | Anterior segment dysgenesis 5 | Enrichment | COL4A1 | 0.78 |
| 862 | Kleefstra syndrome 1 | Enrichment | KMT2C | 0.78 |
| 863 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 0.78 |
| 864 | Intestinal pseudo-obstruction | Enrichment | ACTG2 | 0.78 |
| 865 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Enrichment | UHRF1 | 0.78 |
| 866 | Diarrhea | Enrichment | WNT2B | 0.78 |
| 867 | Pulmonary fibrosis | Enrichment | TERT | 0.78 |
| 868 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 0.78 |
| 869 | Limited scleroderma | Enrichment | CCN2 | 0.78 |
| 870 | Hoyeraal-hreidarsson syndrome | Enrichment | TERT | 0.78 |
| 871 | Hypertrichosis | Enrichment | ASXL1 | 0.78 |
| 872 | Kidney clear cell sarcoma | Enrichment | TERT | 0.78 |
| 873 | Multicystic kidney dysplasia | Enrichment | FZD3 | 0.78 |
| 874 | Typical nemaline myopathy | Enrichment | ACTA1 | 0.78 |
| 875 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 0.78 |
| 876 | Multicystic dysplastic kidney | Enrichment | FZD3 | 0.78 |
| 877 | Complex neurodevelopmental disorder | Enrichment | BAP1, CSNK2A1, PAK3, RNF2, SETD5, TCF7L2 | 0.76 |
| 878 | Developmental and epileptic encephalopathy 1 | Enrichment | CSNK1E, SLC2A1 | 0.76 |
| 879 | Thrombocytopenia | Enrichment | CYCS, ITGB3, SRC | 0.76 |
| 880 | Tetralogy of fallot | Enrichment | FLT4, KDR | 0.73 |
| 881 | Esophageal cancer | Enrichment | TP53 | 0.71 |
| 882 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 0.71 |
| 883 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 0.71 |
| 884 | Silver-russell syndrome 1 | Enrichment | IGF2 | 0.71 |
| 885 | Myelofibrosis | Enrichment | SRC | 0.71 |
| 886 | Coats disease | Enrichment | PRSS23 | 0.71 |
| 887 | Myasthenic syndrome, congenital, 1a, slow-channel | Enrichment | MINK1 | 0.71 |
| 888 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 0.71 |
| 889 | Waardenburg syndrome, type 2e | Enrichment | KITLG | 0.71 |
| 890 | Dyskeratosis congenita, autosomal dominant 2 | Enrichment | TERT | 0.71 |
| 891 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 0.71 |
| 892 | Polycystic kidney disease 1 | Enrichment | TSC2 | 0.71 |
| 893 | Essential thrombocythemia | Enrichment | TP53 | 0.71 |
| 894 | Megacolon | Enrichment | AKT3 | 0.71 |
| 895 | Common variable immunodeficiency | Enrichment | NFKB1 | 0.71 |
| 896 | Epidermolysis bullosa simplex | Enrichment | ITGB4 | 0.71 |
| 897 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 0.71 |
| 898 | Paroxysmal dystonia | Enrichment | SLC2A1 | 0.71 |
| 899 | Hypophosphatemic rickets | Enrichment | FGF23 | 0.71 |
| 900 | Hypertelorism | Enrichment | FGFR2, PIK3CA, RPS6KA3 | 0.69 |
| 901 | Familial isolated dilated cardiomyopathy | Enrichment | ACTC1, LAMA4, RAF1 | 0.67 |
| 902 | Arthrogryposis, distal, type 1a | Enrichment | MET | 0.66 |
| 903 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 0.66 |
| 904 | Renal hypodysplasia/aplasia 1 | Enrichment | MAP4K4 | 0.66 |
| 905 | Methylmalonic aciduria and homocystinuria, cblc type | Enrichment | HCFC1 | 0.66 |
| 906 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 0.66 |
| 907 | Orthostatic intolerance | Enrichment | RPS6KA3 | 0.66 |
| 908 | Ewing sarcoma | Enrichment | BAP1 | 0.66 |
| 909 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 0.66 |
| 910 | Alternating hemiplegia of childhood | Enrichment | SLC2A1 | 0.66 |
| 911 | Congenital muscular dystrophy | Enrichment | LAMA2 | 0.66 |
| 912 | Neuroblastoma | Enrichment | LIN28B | 0.66 |
| 913 | Permanent neonatal diabetes mellitus | Enrichment | INS | 0.66 |
| 914 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 0.66 |
| 915 | Dilated cardiomyopathy | Enrichment | ACTA1, ACTC1, LAMA2, RAF1 | 0.65 |
| 916 | Orofacial cleft 1 | Enrichment | FGF10 | 0.62 |
| 917 | Rheumatoid arthritis | Enrichment | IL10 | 0.62 |
| 918 | Charge syndrome | Enrichment | KDM6A | 0.62 |
| 919 | Inflammatory bowel disease 1 | Enrichment | IL6 | 0.62 |
| 920 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 0.62 |
| 921 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.62 |
| 922 | Congenital central hypoventilation syndrome | Enrichment | BDNF | 0.62 |
| 923 | Primary hyperaldosteronism | Enrichment | TP53 | 0.62 |
| 924 | Renal agenesis, bilateral | Enrichment | FGF20 | 0.62 |
| 925 | Connective tissue disease | Enrichment | ACTA2, FGFR3 | 0.60 |
| 926 | Primary ovarian insufficiency | Enrichment | ADAMTS1, KDR, NTRK1 | 0.58 |
| 927 | Lynch syndrome 1 | Enrichment | ATM | 0.58 |
| 928 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 0.58 |
| 929 | Peters-plus syndrome | Enrichment | COL4A1 | 0.58 |
| 930 | Amelogenesis imperfecta, type ie | Enrichment | LAMB3 | 0.58 |
| 931 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 0.58 |
| 932 | Aplastic anemia | Enrichment | TERT | 0.58 |
| 933 | Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | Enrichment | MINK1 | 0.58 |
| 934 | Nemaline myopathy | Enrichment | ACTA1 | 0.58 |
| 935 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 0.58 |
| 936 | Familial colorectal cancer | Enrichment | TP53 | 0.58 |
| 937 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD | 0.58 |
| 938 | Primary bone dysplasia | Enrichment | FGFR3 | 0.58 |
| 939 | Cakut | Enrichment | ACTG1, COL4A1 | 0.56 |
| 940 | Genetic steroid-resistant nephrotic syndrome | Enrichment | COL4A3, LAMA5 | 0.56 |
| 941 | Left ventricular noncompaction | Enrichment | ACTC1, RAF1 | 0.55 |
| 942 | Immune deficiency disease | Enrichment | ATM | 0.54 |
| 943 | Frontotemporal dementia 1 | Enrichment | CSF1R | 0.54 |
| 944 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 0.54 |
| 945 | Osteochondrodysplasia | Enrichment | FGFR3 | 0.54 |
| 946 | Diabetes mellitus | Enrichment | INS | 0.54 |
| 947 | Heritable pulmonary arterial hypertension | Enrichment | SOX17 | 0.54 |
| 948 | Familial colorectal cancer type x | Enrichment | ATM | 0.54 |
| 949 | Presynaptic congenital myasthenic syndromes | Enrichment | LAMA5 | 0.54 |
| 950 | Non-syndromic x-linked intellectual disability | Enrichment | HCFC1, RPS6KA3 | 0.53 |
| 951 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1, ROR2 | 0.51 |
| 952 | Septooptic dysplasia | Enrichment | FGFR1 | 0.51 |
| 953 | Juvenile myelomonocytic leukemia | Enrichment | ASXL1 | 0.51 |
| 954 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 0.51 |
| 955 | Early-onset parkinson's disease | Enrichment | PODXL | 0.51 |
| 956 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | CTNNA3 | 0.51 |
| 957 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | CTNNA3 | 0.51 |
| 958 | Congenital long qt syndrome | Enrichment | ITPR3 | 0.51 |
| 959 | Aortic valve disease 1 | Enrichment | SOS1 | 0.48 |
| 960 | Neural tube defects | Enrichment | ITGB1 | 0.48 |
| 961 | Pulmonary hypertension, primary, 1 | Enrichment | SOX17 | 0.48 |
| 962 | Alzheimer's disease | Enrichment | CSF1R | 0.48 |
| 963 | Amelogenesis imperfecta | Enrichment | LAMB3 | 0.48 |
| 964 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 0.46 |
| 965 | Pheochromocytoma | Enrichment | MAX | 0.46 |
| 966 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 0.46 |
| 967 | Walker-warburg syndrome | Enrichment | COL4A1 | 0.46 |
| 968 | Generalized epilepsy with febrile seizures plus | Enrichment | FGF13 | 0.46 |
| 969 | Cataract | Enrichment | EPHA2 | 0.46 |
| 970 | Congenital myasthenic syndrome | Enrichment | MINK1 | 0.46 |
| 971 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CTNNA3 | 0.46 |
| 972 | Charcot-marie-tooth disease | Enrichment | LAMA2, NDRG1 | 0.45 |
| 973 | Wilms tumor 1 | Enrichment | IGF2 | 0.43 |
| 974 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 0.43 |
| 975 | Myopia | Enrichment | COL4A4 | 0.43 |
| 976 | Anterior segment dysgenesis | Enrichment | COL4A1 | 0.43 |
| 977 | Atypical hemolytic-uremic syndrome | Enrichment | COL4A5 | 0.43 |
| 978 | Lynch syndrome | Enrichment | PIK3CA | 0.43 |
| 979 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 0.43 |
| 980 | Septopreoptic holoprosencephaly | Enrichment | FGF8 | 0.43 |
| 981 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8 | 0.43 |
| 982 | Hypertrophic cardiomyopathy | Enrichment | ACTC1, PRKAG2 | 0.43 |
| 983 | Creatine phosphokinase, elevated serum | Enrichment | LAMA2 | 0.41 |
| 984 | Wolff-parkinson-white syndrome | Enrichment | PRKAG2 | 0.41 |
| 985 | Hydrocephalus, congenital, 1 | Enrichment | SETD2 | 0.41 |
| 986 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | CTNNA3 | 0.41 |
| 987 | Isolated elevated serum creatine phosphokinase levels | Enrichment | LAMA2 | 0.41 |
| 988 | Isolated congenital microcephaly | Enrichment | PHC1 | 0.41 |
| 989 | Congenital nervous system abnormality | Enrichment | CTNNB1, FGFR3, PTEN, TSC2 | 0.40 |
| 990 | Nervous system disease | Enrichment | CTNNB1, FGFR3, PTEN, TSC2 | 0.40 |
| 991 | Cleft palate, isolated | Enrichment | SETD5 | 0.39 |
| 992 | Interstitial lung disease 2 | Enrichment | TERT | 0.39 |
| 993 | Cataract 44 | Enrichment | EPHA2 | 0.39 |
| 994 | Alobar holoprosencephaly | Enrichment | FGF8 | 0.39 |
| 995 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 0.37 |
| 996 | Heart, malformation of | Enrichment | MAPK1 | 0.37 |
| 997 | Charcot-marie-tooth disease type 4 | Enrichment | NDRG1 | 0.37 |
| 998 | Neuromuscular disease | Enrichment | ACTA1 | 0.37 |
| 999 | Patent foramen ovale | Enrichment | ACTC1 | 0.37 |
| 1000 | Polycystic kidney disease | Enrichment | COL4A4 | 0.37 |
| 1001 | Early-onset nuclear cataract | Enrichment | EPHA2 | 0.37 |
| 1002 | Behcet syndrome | Enrichment | IL10 | 0.36 |
| 1003 | Congenital myopathy | Enrichment | ACTA1 | 0.36 |
| 1004 | Dyskeratosis congenita | Enrichment | TERT | 0.36 |
| 1005 | Maturity-onset diabetes of the young | Enrichment | INS | 0.34 |
| 1006 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, KITLG | 0.33 |
| 1007 | Lissencephaly | Enrichment | ACTG1 | 0.32 |
| 1008 | Centronuclear myopathy | Enrichment | ACTA1 | 0.32 |
| 1009 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | MAX | 0.32 |
| 1010 | Myocardial infarction | Enrichment | ITGB3 | 0.31 |
| 1011 | Microphthalmia | Enrichment | WNT7B | 0.31 |
| 1012 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET, ROR1 | 0.30 |
| 1013 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.30 |
| 1014 | Undetermined early-onset epileptic encephalopathy | Enrichment | FGF12, NTRK2 | 0.30 |
| 1015 | Parkinson disease, late-onset | Enrichment | EIF4G1 | 0.28 |
| 1016 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.28 |
| 1017 | Autoinflammatory disease | Enrichment | NLRP3 | 0.28 |
| 1018 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CSF1R, PPARGC1A | 0.28 |
| 1019 | Strabismus | Enrichment | SLC2A1 | 0.25 |
| 1020 | Severe covid-19 | Enrichment | ITGAV | 0.23 |
| 1021 | Long qt syndrome 1 | Enrichment | ITPR3 | 0.22 |
| 1022 | Long qt syndrome | Enrichment | CTNNA3 | 0.21 |
| 1023 | Cystic fibrosis | Enrichment | TGFB1 | 0.20 |
| 1024 | Peripheral nervous system disease | Enrichment | NGF | 0.20 |
| 1025 | Neuropathy | Enrichment | NGF | 0.20 |
| 1026 | Autism | Enrichment | CHD8, TCF7L2 | 0.19 |
| 1027 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 0.18 |
| 1028 | Diamond-blackfan anemia | Enrichment | TP53 | 0.18 |
| 1029 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.18 |
| 1030 | Rare genetic deafness | Enrichment | ACTG1, COL4A5 | 0.16 |
| 1031 | Systemic lupus erythematosus | Enrichment | IL10 | 0.16 |
| 1032 | Epilepsy | Enrichment | SLC2A1 | 0.15 |
| 1033 | Myopathy | Enrichment | ACTA1 | 0.15 |
| 1034 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 0.15 |
| 1035 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.14 |
| 1036 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.14 |
| 1037 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2 | 0.13 |
| 1038 | Sensorineural hearing loss | Enrichment | HGF | 0.11 |
| 1039 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.11 |
| 1040 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CSNK2B | 0.11 |
| 1041 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.09 |
| 1042 | Autosomal recessive non-syndromic intellectual disability | Enrichment | TNIK | 0.08 |
| 1043 | Hereditary retinal dystrophy | Enrichment | CTNNA1, ITGA4, LAMA1, LRP5, PRSS23, TEAD3 | 0.06 |
| 1044 | Fundus dystrophy | Enrichment | CTNNA1, ITGA4, LAMA1, LRP5, PRSS23, TEAD3 | 0.06 |
| 1045 | Cone-rod dystrophy 2 | Enrichment | ITGA4 | 0.06 |
| 1046 | Leber plus disease | Enrichment | TEAD3 | 0.02 |