| 1 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2 | 16.00 |
| 2 | Ovarian cancer | Enrichment | AKT1, APC, CDKN1B, CDKN2A, CTNNB1, EGFR, KRAS, PDGFRA, PTEN, RB1, RRAS2, TP53, TSC2 | 16.00 |
| 3 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1 | 16.00 |
| 4 | Lung non-small cell carcinoma | Enrichment | BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 16.00 |
| 5 | Bladder cancer | Enrichment | EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, NF1, PIK3CA, PTEN | 16.00 |
| 6 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2 | 16.00 |
| 7 | Colorectal cancer | Enrichment | AKT1, BAX, BRAF, CCND1, ERBB2, FGFR2, FGFR3, MET, NRAS, PIK3CA, PIK3R1, SRC | 11.33 |
| 8 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, BRCA1, BRCA2, KRAS, MSH6, PIK3CA, PTEN, TP53 | 10.94 |
| 9 | Gastric cancer | Enrichment | ATM, BRCA1, BRCA2, CDK4, CDKN2A, ERBB2, FGFR2, KRAS, MSH6, NF1, PIK3CA, PTEN, TP53 | 10.75 |
| 10 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1, EGF, TP53, TSC1, TSC2 | 10.70 |
| 11 | Lip and oral cavity carcinoma | Enrichment | BRAF, CDKN2A, EGFR, HRAS, PIK3CA, RB1, TP53 | 10.63 |
| 12 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BRCA1, BRCA2, CDK4, CDKN1B, CDKN2A, EGFR, MET, MSH6, NF1, PDGFRA, PTEN, RB1, TP53, TSC1, TSC2 | 10.61 |
| 13 | Breast cancer | Enrichment | AKT1, ATM, BRCA1, BRCA2, CDKN2B, KRAS, MSH6, PIK3CA, PTEN, TP53 | 10.46 |
| 14 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2, CBL, HRAS, MSH6, NF1, PTEN, TP53 | 10.44 |
| 15 | Endometrial cancer | Enrichment | ATM, BRCA1, BRCA2, FGFR2, MSH6, PIK3CA, PTEN | 10.29 |
| 16 | Myeloma, multiple | Enrichment | ATM, BRAF, BRCA2, CCND1, CDKN2C, KRAS, NF1, PIK3R2, TP53 | 10.15 |
| 17 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.07 |
| 18 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 10.07 |
| 19 | Lung cancer susceptibility 3 | Enrichment | BRAF, EGFR, ERBB2, KRAS, RB1, TP53 | 9.87 |
| 20 | Nevus, epidermal | Enrichment | FGFR3, HRAS, KRAS, NRAS, PIK3CA | 9.75 |
| 21 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 9.62 |
| 22 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, MSH6, PIK3CA, PTEN, TP53 | 9.46 |
| 23 | Lung cancer | Enrichment | BRAF, BRCA1, EGFR, ERBB2, KRAS, MET, PIK3CA | 9.14 |
| 24 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BRCA1, BRCA2, KRAS, MSH6, NF1, PTEN, TP53 | 8.90 |
| 25 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1, SOS1 | 8.56 |
| 26 | Uterine corpus cancer | Enrichment | ATM, BRCA1, BRCA2, MSH6, PTEN | 8.49 |
| 27 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 8.34 |
| 28 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, CDKN2A, KRAS, TP53 | 8.18 |
| 29 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA, PTEN | 8.17 |
| 30 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA, TP53 | 7.73 |
| 31 | Lung squamous cell carcinoma | Enrichment | CDKN2A, EGFR, KRAS, PIK3CA | 7.73 |
| 32 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 7.62 |
| 33 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS, PTEN | 7.39 |
| 34 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS, PTEN | 7.39 |
| 35 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B, CDKN2B, CDKN2C | 7.37 |
| 36 | Gallbladder cancer | Enrichment | BRAF, KRAS, PIK3CA, TP53 | 7.37 |
| 37 | Pilomyxoid astrocytoma | Enrichment | BRAF, FGFR1, KRAS, RAF1 | 7.37 |
| 38 | Diffuse large b-cell lymphoma | Enrichment | BRAF, BRCA2, FOXO1, PTEN, TP53 | 7.11 |
| 39 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 6.79 |
| 40 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 6.76 |
| 41 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2, STAT3 | 6.69 |
| 42 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.46 |
| 43 | Juvenile myelomonocytic leukemia | Enrichment | CBL, KRAS, NRAS, RRAS | 6.32 |
| 44 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 6.31 |
| 45 | Meningioma | Enrichment | AKT1, PDGFB, PIK3CA, PTEN | 6.19 |
| 46 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, CCND2, PIK3R2 | 6.07 |
| 47 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, RASA1 | 6.02 |
| 48 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 6.01 |
| 49 | Autosomal non-syndromic agammaglobulinemia | Enrichment | BLNK, CD79A, CD79B, PIK3R1 | 5.96 |
| 50 | Rhabdomyosarcoma 2 | Enrichment | FOXO1, NF1, TP53 | 5.68 |
| 51 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 5.68 |
| 52 | Focal cortical dysplasia, type ii | Enrichment | MTOR, TSC1, TSC2 | 5.67 |
| 53 | Craniopharyngioma | Enrichment | APC, BRAF, CTNNB1 | 5.67 |
| 54 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, TSC1, TSC2 | 5.67 |
| 55 | Gliosarcoma | Enrichment | ATM, EGFR, FGFR1, TP53 | 5.67 |
| 56 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, RASA1 | 5.64 |
| 57 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF, CDK4, CDKN2A, CDKN2B | 5.56 |
| 58 | Giant cell glioblastoma | Enrichment | ATM, EGFR, FGFR1, TP53 | 5.56 |
| 59 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, RASA1 | 5.49 |
| 60 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 5.47 |
| 61 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2, TP53 | 5.38 |
| 62 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA, PTEN | 5.38 |
| 63 | Arteriovenous malformations of the brain | Enrichment | BRAF, EGFR, IL6, KRAS | 5.31 |
| 64 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN, TP53 | 5.14 |
| 65 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1, TP53 | 4.98 |
| 66 | Specific learning disability | Enrichment | GHR, MAPK1, RPS6KA3 | 4.92 |
| 67 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 4.76 |
| 68 | Pulmonic stenosis | Enrichment | BRAF, SOS1 | 4.72 |
| 69 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS, PRKAR1A | 4.62 |
| 70 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 4.61 |
| 71 | Melanoma | Enrichment | BRAF, CDKN2A, PTEN | 4.61 |
| 72 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CTNNB1, TP53 | 4.56 |
| 73 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 4.52 |
| 74 | Immunodeficiency 33 | Enrichment | IKBKG, IRAK4 | 4.49 |
| 75 | Transient predisposition to invasive pyogenic bacterial infection | Enrichment | IRAK4, MYD88 | 4.49 |
| 76 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 4.46 |
| 77 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.44 |
| 78 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.44 |
| 79 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.44 |
| 80 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1, KRAS | 4.44 |
| 81 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.44 |
| 82 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 4.44 |
| 83 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 4.44 |
| 84 | Pleomorphic rhabdomyosarcoma | Enrichment | NF1, TP53 | 4.44 |
| 85 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 4.42 |
| 86 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF, TP53 | 4.30 |
| 87 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 4.30 |
| 88 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 4.30 |
| 89 | Alzheimer disease 4 | Enrichment | PSEN1, PSEN2 | 4.24 |
| 90 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2 | 4.23 |
| 91 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.23 |
| 92 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.23 |
| 93 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 4.23 |
| 94 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.23 |
| 95 | Nk-cell enteropathy | Enrichment | AXL, IGF1R, PIK3CB | 4.20 |
| 96 | Melanoma of soft tissue | Enrichment | ATF1, CREB1 | 4.14 |
| 97 | Common variable immunodeficiency phenotype due to cd19/cd81 deficiency | Enrichment | CD19, CD81 | 4.12 |
| 98 | Non-immune hydrops fetalis | Enrichment | HRAS, KRAS | 4.12 |
| 99 | Behcet syndrome | Enrichment | IFNGR1, TLR4, TNFRSF1A | 4.08 |
| 100 | Meningioma, familial | Enrichment | NF2, PDGFB, PTEN | 4.08 |
| 101 | Tethered spinal cord syndrome | Enrichment | BRAF, CREBBP | 4.07 |
| 102 | Lynch syndrome | Enrichment | KRAS, MSH6, PIK3CA | 4.04 |
| 103 | Ataxia-telangiectasia | Enrichment | ATM, BRAF | 3.97 |
| 104 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 3.97 |
| 105 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 3.97 |
| 106 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 3.97 |
| 107 | Hamartoma | Enrichment | TSC1, TSC2 | 3.97 |
| 108 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 3.97 |
| 109 | Adenocarcinoma | Enrichment | ATM, TP53 | 3.97 |
| 110 | Bone osteosarcoma | Enrichment | RB1, TP53 | 3.97 |
| 111 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 3.97 |
| 112 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 3.95 |
| 113 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 3.95 |
| 114 | Spermatocytoma | Enrichment | FGFR3, HRAS | 3.95 |
| 115 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 3.93 |
| 116 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, ITPR3 | 3.90 |
| 117 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 3.90 |
| 118 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 3.75 |
| 119 | Myelofibrosis | Enrichment | JAK2, MPL | 3.71 |
| 120 | Essential thrombocythemia | Enrichment | JAK2, MPL | 3.71 |
| 121 | Myeloproliferative neoplasm | Enrichment | CBL, JAK2 | 3.71 |
| 122 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 3.70 |
| 123 | Desmoid tumor | Enrichment | APC, CTNNB1 | 3.70 |
| 124 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 3.67 |
| 125 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 3.67 |
| 126 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2, NF1 | 3.67 |
| 127 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 3.67 |
| 128 | Lynch syndrome 4 | Enrichment | MSH6, RB1 | 3.67 |
| 129 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 3.67 |
| 130 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.67 |
| 131 | Embryonal rhabdomyosarcoma | Enrichment | NF1, TP53 | 3.67 |
| 132 | Pilocytic astrocytoma | Enrichment | KRAS, NF1 | 3.67 |
| 133 | Glioma | Enrichment | FGFR2, PTEN | 3.67 |
| 134 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1, BCL10 | 3.65 |
| 135 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.65 |
| 136 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, TP53 | 3.63 |
| 137 | Multisystem inflammatory syndrome in children | Enrichment | IRAK3, TLR3, TLR6 | 3.58 |
| 138 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL, MAPK1 | 3.58 |
| 139 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.53 |
| 140 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.53 |
| 141 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.53 |
| 142 | Primary hyperaldosteronism | Enrichment | BRAF, TP53 | 3.52 |
| 143 | Systemic lupus erythematosus | Enrichment | BLK, CR2, FCGR2B, SPP1 | 3.45 |
| 144 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2 | 3.45 |
| 145 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.45 |
| 146 | Noonan syndrome 13 | Enrichment | MAPK1 | 3.43 |
| 147 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 3.43 |
| 148 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 3.43 |
| 149 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 3.43 |
| 150 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 3.43 |
| 151 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 3.43 |
| 152 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.43 |
| 153 | Hirschsprung disease 1 | Enrichment | ERBB2, ERBB3, NRG3 | 3.42 |
| 154 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1, PSEN2 | 3.40 |
| 155 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | BUB1B-PAK6, PAK6 | 3.36 |
| 156 | Oculoectodermal syndrome | Enrichment | KRAS | 3.35 |
| 157 | Melanosis, neurocutaneous | Enrichment | NRAS | 3.35 |
| 158 | Noonan syndrome 6 | Enrichment | NRAS | 3.35 |
| 159 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 3.35 |
| 160 | Congenital pulmonary airway malformation | Enrichment | KRAS | 3.35 |
| 161 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 3.35 |
| 162 | Neurocutaneous melanocytosis | Enrichment | NRAS | 3.35 |
| 163 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.30 |
| 164 | Hepatoblastoma | Enrichment | APC, CTNNB1, TP53 | 3.20 |
| 165 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.19 |
| 166 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4 | 3.19 |
| 167 | Oligoarticular juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB | 3.16 |
| 168 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | IL2RA, IL2RB | 3.16 |
| 169 | Acute promyelocytic leukemia | Enrichment | STAT3, STAT5B | 3.15 |
| 170 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 3.13 |
| 171 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BCL10, MALT1 | 3.13 |
| 172 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM, MET | 3.13 |
| 173 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.13 |
| 174 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.07 |
| 175 | Costello syndrome | Enrichment | HRAS | 3.05 |
| 176 | Wooly hair nevus | Enrichment | HRAS | 3.05 |
| 177 | Severe combined immunodeficiency | Enrichment | IKBKB, JAK3, LCK | 3.04 |
| 178 | Glioma susceptibility 1 | Enrichment | ERBB2, TP53 | 3.01 |
| 179 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 2.98 |
| 180 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.96 |
| 181 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 2.96 |
| 182 | Hyper ige syndrome | Enrichment | STAT3 | 2.96 |
| 183 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 2.96 |
| 184 | Mosaic variegated aneuploidy syndrome | Enrichment | BUB1B-PAK6, PAK6 | 2.92 |
| 185 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2, NF1 | 2.88 |
| 186 | Lynch syndrome 1 | Enrichment | ATM, MSH6 | 2.80 |
| 187 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1, PSEN2, RAF1 | 2.78 |
| 188 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.75 |
| 189 | Epidermolytic nevus | Enrichment | HRAS | 2.75 |
| 190 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4 | 2.74 |
| 191 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B, ERBB4 | 2.72 |
| 192 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2 | 2.72 |
| 193 | Autism spectrum disorder | Enrichment | MAP2K1, NF1, PTEN, TCF4, TSC2 | 2.70 |
| 194 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.70 |
| 195 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1, SOS1 | 2.68 |
| 196 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 2.53 |
| 197 | Pallister-killian syndrome | Enrichment | ARAF | 2.53 |
| 198 | Noonan syndrome 5 | Enrichment | RAF1 | 2.53 |
| 199 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.53 |
| 200 | Noonan syndrome 7 | Enrichment | BRAF | 2.53 |
| 201 | Leopard syndrome 3 | Enrichment | BRAF | 2.53 |
| 202 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.53 |
| 203 | Seckel syndrome 1 | Enrichment | ATR | 2.53 |
| 204 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.53 |
| 205 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.53 |
| 206 | Noonan syndrome 11 | Enrichment | MRAS | 2.53 |
| 207 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.53 |
| 208 | Papilloma of choroid plexus | Enrichment | TP53 | 2.53 |
| 209 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.53 |
| 210 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.53 |
| 211 | Lymphangioma | Enrichment | BRAF | 2.53 |
| 212 | Phace association | Enrichment | BRAF | 2.53 |
| 213 | Spinocerebellar ataxia 14 | Enrichment | PRKCG | 2.53 |
| 214 | Melorheostosis | Enrichment | MAP2K1 | 2.53 |
| 215 | Leopard syndrome 2 | Enrichment | RAF1 | 2.53 |
| 216 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.53 |
| 217 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.53 |
| 218 | Ductal carcinoma in situ | Enrichment | TP53 | 2.53 |
| 219 | Congenital heart defects and ectodermal dysplasia | Enrichment | PRKD1 | 2.53 |
| 220 | Acid sphingomyelinase deficiency | Enrichment | SMPD1 | 2.53 |
| 221 | Thrombocytopenia 6 | Enrichment | SRC | 2.53 |
| 222 | Trigonitis | Enrichment | RAF1 | 2.53 |
| 223 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.53 |
| 224 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.53 |
| 225 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.53 |
| 226 | Choroid plexus cancer | Enrichment | TP53 | 2.53 |
| 227 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.53 |
| 228 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.53 |
| 229 | Ganglioglioma | Enrichment | BRAF | 2.53 |
| 230 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.53 |
| 231 | Phace syndrome | Enrichment | BRAF | 2.53 |
| 232 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.53 |
| 233 | Classic hairy cell leukemia | Enrichment | BRAF | 2.53 |
| 234 | Malignant epithelial tumor of salivary glands | Enrichment | PRKD1 | 2.53 |
| 235 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.51 |
| 236 | Thrombocythemia 2 | Enrichment | MPL | 2.51 |
| 237 | Noonan syndrome 4 | Enrichment | SOS1 | 2.51 |
| 238 | Amegakaryocytic thrombocytopenia, congenital, 1 | Enrichment | MPL | 2.51 |
| 239 | Ataxia-oculomotor apraxia 3 | Enrichment | PIK3R5 | 2.51 |
| 240 | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | Enrichment | STAT5B | 2.51 |
| 241 | Short syndrome | Enrichment | PIK3R1 | 2.51 |
| 242 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.51 |
| 243 | Immunodeficiency 31a | Enrichment | STAT1 | 2.51 |
| 244 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.51 |
| 245 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.51 |
| 246 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.51 |
| 247 | Immunodeficiency 31b | Enrichment | STAT1 | 2.51 |
| 248 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.51 |
| 249 | Gorham's disease | Enrichment | RASA1 | 2.51 |
| 250 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, MET | 2.44 |
| 251 | Wilms tumor 1 | Enrichment | BRAF, BRCA2 | 2.44 |
| 252 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 2.44 |
| 253 | Coffin-lowry syndrome | Enrichment | RPS6KA3 | 2.37 |
| 254 | Dermatitis, atopic, 4 | Enrichment | SOCS3 | 2.37 |
| 255 | Laron syndrome | Enrichment | GHR | 2.37 |
| 256 | Intellectual developmental disorder, x-linked 19 | Enrichment | RPS6KA3 | 2.37 |
| 257 | Growth hormone insensitivity, partial | Enrichment | GHR | 2.37 |
| 258 | Symptomatic form of coffin-lowry syndrome in female carriers | Enrichment | RPS6KA3 | 2.37 |
| 259 | Proteus syndrome | Enrichment | AKT1 | 2.35 |
| 260 | Paget disease, extramammary | Enrichment | ERBB2 | 2.35 |
| 261 | Acne inversa, familial, 1 | Enrichment | NCSTN | 2.35 |
| 262 | Noonan syndrome 9 | Enrichment | SOS2 | 2.35 |
| 263 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.35 |
| 264 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 2.35 |
| 265 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.35 |
| 266 | Cowden syndrome 6 | Enrichment | AKT1 | 2.35 |
| 267 | Amyotrophic lateral sclerosis 19 | Enrichment | ERBB4 | 2.35 |
| 268 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 2.35 |
| 269 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.35 |
| 270 | Pash syndrome | Enrichment | NCSTN | 2.35 |
| 271 | Huntington's disease-like | Enrichment | PSEN2 | 2.35 |
| 272 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.35 |
| 273 | Macrodactyly | Enrichment | PIK3CA | 2.35 |
| 274 | Metachondromatosis | Enrichment | PTPN11 | 2.35 |
| 275 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.35 |
| 276 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.35 |
| 277 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.35 |
| 278 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.35 |
| 279 | Multiple fibroadenomas of the breast | Enrichment | PRLR | 2.35 |
| 280 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.35 |
| 281 | Transient erythroblastopenia of childhood | Enrichment | TEC | 2.35 |
| 282 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.35 |
| 283 | Hyperprolactinemia | Enrichment | PRLR | 2.35 |
| 284 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.35 |
| 285 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.35 |
| 286 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.35 |
| 287 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.35 |
| 288 | Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia | Enrichment | OAS1 | 2.35 |
| 289 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.35 |
| 290 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.35 |
| 291 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.35 |
| 292 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.35 |
| 293 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.35 |
| 294 | Hypospadias | Enrichment | PIK3CA | 2.35 |
| 295 | Capillary hemangioma | Enrichment | AKT3 | 2.35 |
| 296 | Familial hyperprolactinemia | Enrichment | PRLR | 2.35 |
| 297 | Rare venous malformation | Enrichment | PIK3CA | 2.35 |
| 298 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.35 |
| 299 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.35 |
| 300 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.35 |
| 301 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.35 |
| 302 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.35 |
| 303 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.35 |
| 304 | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | Enrichment | OAS1 | 2.35 |
| 305 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.35 |
| 306 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.35 |
| 307 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.35 |
| 308 | Macrodactyly of toe | Enrichment | PIK3CA | 2.35 |
| 309 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.35 |
| 310 | Malignant astrocytoma | Enrichment | PTPN11 | 2.35 |
| 311 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 2.34 |
| 312 | Helicobacter pylori infection | Enrichment | IFNGR1 | 2.34 |
| 313 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 2.34 |
| 314 | Immunodeficiency 27a | Enrichment | IFNGR1 | 2.34 |
| 315 | Immunodeficiency 69 | Enrichment | IFNG | 2.34 |
| 316 | Chronic recurrent multifocal osteomyelitis 3 | Enrichment | IL1R1 | 2.34 |
| 317 | Immunodeficiency 27b | Enrichment | IFNGR1 | 2.34 |
| 318 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 2.34 |
| 319 | Macular degeneration, age-related, 10 | Enrichment | TLR4 | 2.34 |
| 320 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 2.34 |
| 321 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.34 |
| 322 | Immunodeficiency 129 | Enrichment | RHOH | 2.34 |
| 323 | T-cell immunodeficiency with epidermodysplasia verruciformis | Enrichment | RHOH | 2.34 |
| 324 | Nocarh syndrome | Enrichment | CDC42 | 2.34 |
| 325 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency | Enrichment | IFNGR2 | 2.34 |
| 326 | Dandy-walker syndrome | Enrichment | BRAF, PDGFRB | 2.33 |
| 327 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.31 |
| 328 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.31 |
| 329 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.31 |
| 330 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.31 |
| 331 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.31 |
| 332 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.31 |
| 333 | Nail disorder, nonsyndromic congenital, 3 | Enrichment | PLCD1 | 2.31 |
| 334 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.31 |
| 335 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.31 |
| 336 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.31 |
| 337 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.31 |
| 338 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 2.31 |
| 339 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.31 |
| 340 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.31 |
| 341 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 2.31 |
| 342 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.31 |
| 343 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.31 |
| 344 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.31 |
| 345 | Disorders of gnas inactivation | Enrichment | GNAS | 2.31 |
| 346 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.31 |
| 347 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 2.31 |
| 348 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.31 |
| 349 | Immunodeficiency 112 | Enrichment | MAP3K14 | 2.31 |
| 350 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.31 |
| 351 | Cerebral cavernous malformations 5 | Enrichment | MAP3K3 | 2.31 |
| 352 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.31 |
| 353 | Verrucous hemangioma | Enrichment | MAP3K3 | 2.31 |
| 354 | Mazabraud syndrome | Enrichment | GNAS | 2.31 |
| 355 | Nik deficiency | Enrichment | MAP3K14 | 2.31 |
| 356 | Erythroleukemia, familial | Enrichment | ERBB3 | 2.31 |
| 357 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.31 |
| 358 | Lethal congenital contracture syndrome 2 | Enrichment | ERBB3 | 2.31 |
| 359 | Pseudo-torch syndrome 3 | Enrichment | STAT2 | 2.31 |
| 360 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.31 |
| 361 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.31 |
| 362 | Disabling pansclerotic morphea of childhood | Enrichment | STAT4 | 2.31 |
| 363 | Systemic lupus erythematosus 11 | Enrichment | STAT4 | 2.31 |
| 364 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.31 |
| 365 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.31 |
| 366 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.31 |
| 367 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.31 |
| 368 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.31 |
| 369 | Scoliosis | Enrichment | CREBBP, PTPN11 | 2.29 |
| 370 | Incontinentia pigmenti | Enrichment | IKBKG | 2.26 |
| 371 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.26 |
| 372 | Fetal encasement syndrome | Enrichment | CHUK | 2.26 |
| 373 | Immunodeficiency 15b | Enrichment | IKBKB | 2.26 |
| 374 | Immunodeficiency 15a | Enrichment | IKBKB | 2.26 |
| 375 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.26 |
| 376 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.26 |
| 377 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.26 |
| 378 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.26 |
| 379 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 2.25 |
| 380 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.25 |
| 381 | Medulloblastoma | Enrichment | APC, CTNNB1 | 2.25 |
| 382 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 2.24 |
| 383 | Protein-deficiency anemia | Enrichment | NRAS | 2.24 |
| 384 | Leprosy 3 | Enrichment | TLR2 | 2.24 |
| 385 | Legionnaire disease | Enrichment | TLR5 | 2.24 |
| 386 | Immunodeficiency 68 | Enrichment | MYD88 | 2.24 |
| 387 | Macroglobulinemia, waldenstrom 1 | Enrichment | MYD88 | 2.24 |
| 388 | Immunodeficiency 83 viral infections | Enrichment | TLR3 | 2.24 |
| 389 | Leprosy 5 | Enrichment | TLR1 | 2.24 |
| 390 | Immunodeficiency 82 with systemic inflammation | Enrichment | SYK | 2.24 |
| 391 | Immunodeficiency 74, covid19-related, x-linked | Enrichment | TLR7 | 2.24 |
| 392 | Systemic lupus erythematosus 1 | Enrichment | TLR5 | 2.24 |
| 393 | X-linked immunodeficiency 74 | Enrichment | TLR7 | 2.24 |
| 394 | Systemic lupus erythematosus 17 | Enrichment | TLR7 | 2.24 |
| 395 | Asthma-related traits 5 | Enrichment | IRAK3 | 2.24 |
| 396 | Thrombocytopenia 4 | Enrichment | CYCS | 2.24 |
| 397 | Immunodeficiency 67 | Enrichment | IRAK4 | 2.24 |
| 398 | Melioidosis | Enrichment | TLR5 | 2.24 |
| 399 | Colitis | Enrichment | SYK | 2.24 |
| 400 | Waldenstram macroglobulinemia | Enrichment | MYD88 | 2.24 |
| 401 | Inflammatory bowel disease-recurrent sinopulmonary infections syndrome | Enrichment | NFAT5 | 2.24 |
| 402 | Type 2 diabetes mellitus | Enrichment | AKT2, IRS1, IRS2 | 2.24 |
| 403 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.23 |
| 404 | Type 1 diabetes mellitus 10 | Enrichment | IL2RA | 2.23 |
| 405 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | Enrichment | IL2RB | 2.23 |
| 406 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 2.23 |
| 407 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 2.23 |
| 408 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.23 |
| 409 | Glioma susceptibility 2 | Enrichment | PTEN | 2.23 |
| 410 | Immunodeficiency 22 | Enrichment | LCK | 2.23 |
| 411 | T-b+ severe combined immunodeficiency due to jak3 deficiency | Enrichment | JAK3 | 2.23 |
| 412 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.23 |
| 413 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.23 |
| 414 | Cervical cancer | Enrichment | TP53 | 2.23 |
| 415 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.23 |
| 416 | Noonan syndrome 12 | Enrichment | RRAS2 | 2.23 |
| 417 | Congenital fibrosarcoma | Enrichment | TP53 | 2.23 |
| 418 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.23 |
| 419 | Sarcoma | Enrichment | TP53 | 2.23 |
| 420 | Cervix carcinoma | Enrichment | TP53 | 2.23 |
| 421 | Hodgkin's lymphoma | Enrichment | TP53 | 2.23 |
| 422 | Tafro syndrome | Enrichment | MAP2K2 | 2.23 |
| 423 | Hyper-ige syndrome 6, autosomal dominant, with recurrent infections | Enrichment | STAT6 | 2.22 |
| 424 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.22 |
| 425 | Hydrops fetalis, nonimmune | Enrichment | HRAS, PTPN11 | 2.22 |
| 426 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.22 |
| 427 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.22 |
| 428 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.22 |
| 429 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.22 |
| 430 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.22 |
| 431 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.22 |
| 432 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.22 |
| 433 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.22 |
| 434 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.22 |
| 435 | Apert syndrome | Enrichment | FGFR2 | 2.22 |
| 436 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.22 |
| 437 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.22 |
| 438 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.22 |
| 439 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 2.22 |
| 440 | Iga nephropathy 3 | Enrichment | SPRY2 | 2.22 |
| 441 | Gist-plus syndrome | Enrichment | PDGFRA | 2.22 |
| 442 | Accelerated tumor formation | Enrichment | MDM2 | 2.22 |
| 443 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.22 |
| 444 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.22 |
| 445 | Bone marrow failure syndrome 6 | Enrichment | MDM4 | 2.22 |
| 446 | Osteofibrous dysplasia | Enrichment | MET | 2.22 |
| 447 | Oculoskeletodental syndrome | Enrichment | PIK3C2A | 2.22 |
| 448 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.22 |
| 449 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.22 |
| 450 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.22 |
| 451 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.22 |
| 452 | Autism 9 | Enrichment | MET | 2.22 |
| 453 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.22 |
| 454 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.22 |
| 455 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.22 |
| 456 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.22 |
| 457 | Hartsfield syndrome | Enrichment | FGFR1 | 2.22 |
| 458 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.22 |
| 459 | Trilateral retinoblastoma | Enrichment | RB1 | 2.22 |
| 460 | Plexiform neurofibroma | Enrichment | NF1 | 2.22 |
| 461 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.22 |
| 462 | Neurofibroma | Enrichment | NF1 | 2.22 |
| 463 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.22 |
| 464 | Neurofibromatosis | Enrichment | NF1 | 2.22 |
| 465 | Chromosome 17q11.2 deletion syndrome | Enrichment | NF1 | 2.22 |
| 466 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.22 |
| 467 | Optic nerve glioma | Enrichment | NF1 | 2.22 |
| 468 | Oculocerebrodental syndrome | Enrichment | PIK3C2A | 2.22 |
| 469 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.22 |
| 470 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.22 |
| 471 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.22 |
| 472 | Lung oat cell carcinoma | Enrichment | RB1 | 2.22 |
| 473 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.21 |
| 474 | Scoliosis, isolated 1 | Enrichment | MAPK7 | 2.21 |
| 475 | Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive | Enrichment | STAT5B | 2.21 |
| 476 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | Enrichment | PIK3R5 | 2.21 |
| 477 | Thrombocythemia 3 | Enrichment | JAK2 | 2.21 |
| 478 | Immunodeficiency 31c | Enrichment | STAT1 | 2.21 |
| 479 | Polycythemia | Enrichment | JAK2 | 2.21 |
| 480 | Congenital amegakaryocytic thrombocytopenia | Enrichment | MPL | 2.21 |
| 481 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.21 |
| 482 | Laron syndrome with immunodeficiency | Enrichment | STAT5B | 2.21 |
| 483 | Hypochondroplasia | Enrichment | FGFR3 | 2.21 |
| 484 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.21 |
| 485 | Muenke syndrome | Enrichment | FGFR3 | 2.21 |
| 486 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.21 |
| 487 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.21 |
| 488 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.21 |
| 489 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.21 |
| 490 | Autism 19 | Enrichment | EIF4E | 2.21 |
| 491 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.21 |
| 492 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.21 |
| 493 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.21 |
| 494 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.21 |
| 495 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.21 |
| 496 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.21 |
| 497 | Tufted angioma of skin | Enrichment | KDR | 2.21 |
| 498 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.21 |
| 499 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.21 |
| 500 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.21 |
| 501 | Heart, malformation of | Enrichment | MAPK1 | 2.18 |
| 502 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.17 |
| 503 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 2.09 |
| 504 | Omodysplasia 2 | Enrichment | FZD2 | 2.09 |
| 505 | Schwannomatosis, vestibular | Enrichment | NF2 | 2.09 |
| 506 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.09 |
| 507 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.09 |
| 508 | Agammaglobulinemia 8b, autosomal recessive | Enrichment | TCF3 | 2.09 |
| 509 | Agammaglobulinemia 8a, autosomal dominant | Enrichment | TCF3 | 2.09 |
| 510 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 2.09 |
| 511 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.09 |
| 512 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.09 |
| 513 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.09 |
| 514 | Familial adenomatous polyposis | Enrichment | APC | 2.09 |
| 515 | Acoustic neuroma | Enrichment | NF2 | 2.09 |
| 516 | Gardner syndrome | Enrichment | APC | 2.09 |
| 517 | 5q22 microdeletion syndrome | Enrichment | APC | 2.09 |
| 518 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.09 |
| 519 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.09 |
| 520 | Silver-russell syndrome 3 | Enrichment | IGF2 | 2.07 |
| 521 | Growth hormone deficiency, isolated partial | Enrichment | GHR | 2.07 |
| 522 | Kowarski syndrome | Enrichment | GH1 | 2.07 |
| 523 | Short stature due to growth hormone qualitative anomaly | Enrichment | GH1 | 2.07 |
| 524 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 2.07 |
| 525 | Silver-russell syndrome due to an imprinting defect of 11p15 | Enrichment | IGF2 | 2.07 |
| 526 | Silver-russell syndrome due to 11p15 microduplication | Enrichment | IGF2 | 2.07 |
| 527 | Immunodeficiency, common variable, 6 | Enrichment | CD81 | 2.06 |
| 528 | Agammaglobulinemia 3, autosomal recessive | Enrichment | CD79A | 2.06 |
| 529 | Immunodeficiency 89 and autoimmunity | Enrichment | CARD10 | 2.06 |
| 530 | Isolated growth hormone deficiency type iii | Enrichment | BTK | 2.06 |
| 531 | Immunodeficiency with hyper-igm, type 3 | Enrichment | CD40 | 2.06 |
| 532 | Long qt syndrome 16 | Enrichment | CALM3 | 2.06 |
| 533 | Immunodeficiency 12 | Enrichment | MALT1 | 2.06 |
| 534 | Achromatopsia 7 | Enrichment | ATF6 | 2.06 |
| 535 | Immunodeficiency, common variable, 3 | Enrichment | CD19 | 2.06 |
| 536 | Immunodeficiency 105, severe combined | Enrichment | PTPRC | 2.06 |
| 537 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 2.06 |
| 538 | Cd45 deficiency | Enrichment | PTPRC | 2.06 |
| 539 | Sezary's disease | Enrichment | BCL10 | 2.06 |
| 540 | Long qt syndrome 15 | Enrichment | CALM2 | 2.06 |
| 541 | Agammaglobulinemia 3 | Enrichment | CD79A | 2.06 |
| 542 | Mucosa-associated lymphoma | Enrichment | BCL10 | 2.06 |
| 543 | Niemann-pick disease, type a | Enrichment | SMPD1 | 2.05 |
| 544 | Niemann-pick disease, type b | Enrichment | SMPD1 | 2.05 |
| 545 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.05 |
| 546 | Ceroid lipofuscinosis, neuronal, 6a | Enrichment | SMPD1 | 2.05 |
| 547 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.05 |
| 548 | Anaplastic astrocytoma | Enrichment | TP53 | 2.05 |
| 549 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.05 |
| 550 | Pick disease of brain | Enrichment | PSEN1 | 2.05 |
| 551 | Inflammatory skin and bowel disease, neonatal, 1 | Enrichment | ADAM17 | 2.05 |
| 552 | Burkitt lymphoma | Enrichment | MYC | 2.05 |
| 553 | Galactosemia ii | Enrichment | NR3C1 | 2.05 |
| 554 | Thumb deformity | Enrichment | CREBBP | 2.05 |
| 555 | Ovarian germ cell cancer | Enrichment | CBL | 2.05 |
| 556 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.05 |
| 557 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.05 |
| 558 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.05 |
| 559 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.05 |
| 560 | Werner syndrome | Enrichment | PTPN11 | 2.05 |
| 561 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.05 |
| 562 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.05 |
| 563 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.05 |
| 564 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.05 |
| 565 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.05 |
| 566 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.05 |
| 567 | Immune system disease | Enrichment | PIK3CD | 2.05 |
| 568 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.05 |
| 569 | Immunodeficiency 117 | Enrichment | IRF1 | 2.05 |
| 570 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.05 |
| 571 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.05 |
| 572 | Immunodeficiency 127 | Enrichment | TNF | 2.04 |
| 573 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 2.04 |
| 574 | Polycythemia vera | Enrichment | JAK2 | 2.03 |
| 575 | Nuchal bleb, familial | Enrichment | SOS1 | 2.03 |
| 576 | Dyskeratosis congenita, autosomal dominant 6 | Enrichment | MPL | 2.03 |
| 577 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.03 |
| 578 | Microcephaly | Enrichment | ABL1, CAMK2B, MAPK1, PAK3 | 2.03 |
| 579 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 2.01 |
| 580 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 2.01 |
| 581 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 2.01 |
| 582 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 2.01 |
| 583 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 2.01 |
| 584 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 2.01 |
| 585 | Spermatogenic failure 17 | Enrichment | PLCZ1 | 2.01 |
| 586 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 2.01 |
| 587 | Usher syndrome, type iv | Enrichment | PRKAR1A | 2.01 |
| 588 | Acrodysostosis | Enrichment | PRKAR1A | 2.01 |
| 589 | Pseudohypoparathyroidism | Enrichment | GNAS | 2.01 |
| 590 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 2.01 |
| 591 | Fibrolamellar carcinoma | Enrichment | PRKACA | 2.01 |
| 592 | Ocular melanoma | Enrichment | PLCB4 | 2.01 |
| 593 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 2.01 |
| 594 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 2.01 |
| 595 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 2.01 |
| 596 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | ERBB3 | 2.01 |
| 597 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 2.01 |
| 598 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, MYC | 1.99 |
| 599 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 1.96 |
| 600 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 1.96 |
| 601 | Cebalid syndrome | Enrichment | MTOR | 1.95 |
| 602 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.95 |
| 603 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | Enrichment | TYROBP | 1.94 |
| 604 | Leprosy 1 | Enrichment | TLR6 | 1.94 |
| 605 | Congenital dyserythropoietic anemia | Enrichment | IRAK4 | 1.94 |
| 606 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 1.94 |
| 607 | Arthritis | Enrichment | SYK | 1.94 |
| 608 | Immunodeficiency 41 with lymphoproliferation and autoimmunity | Enrichment | IL2RA | 1.94 |
| 609 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.94 |
| 610 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.94 |
| 611 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.93 |
| 612 | Hereditary ataxia | Enrichment | PRKCG | 1.93 |
| 613 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.93 |
| 614 | Hemangiopericytoma, malignant | Enrichment | STAT6 | 1.92 |
| 615 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.92 |
| 616 | Cafe-au-lait spots, multiple | Enrichment | NF1 | 1.92 |
| 617 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.92 |
| 618 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.92 |
| 619 | Aural atresia, congenital | Enrichment | FGFR2 | 1.92 |
| 620 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.92 |
| 621 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.92 |
| 622 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.92 |
| 623 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 1.92 |
| 624 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 1.92 |
| 625 | Chromosome 17q11.2 duplication syndrome, 1.4-mb | Enrichment | NF1 | 1.92 |
| 626 | Infantile myofibromatosis | Enrichment | PDGFRB | 1.92 |
| 627 | Pancreatic cancer 4 | Enrichment | BRCA1 | 1.92 |
| 628 | Childhood hepatocellular carcinoma | Enrichment | MET | 1.92 |
| 629 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2 | 1.92 |
| 630 | Split hand-foot malformation | Enrichment | FGFR2 | 1.92 |
| 631 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.92 |
| 632 | Papillary renal cell carcinoma | Enrichment | MET | 1.92 |
| 633 | High grade glioma | Enrichment | ATM | 1.92 |
| 634 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 1.92 |
| 635 | Bardet-biedl syndrome 9 | Enrichment | NF1 | 1.92 |
| 636 | T-cell prolymphocytic leukemia | Enrichment | ATM | 1.92 |
| 637 | Mismatch repair cancer syndrome 3 | Enrichment | MSH6 | 1.92 |
| 638 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.92 |
| 639 | Peritoneum cancer | Enrichment | BRCA1 | 1.92 |
| 640 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.92 |
| 641 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.92 |
| 642 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.92 |
| 643 | Familial retinoblastoma | Enrichment | RB1 | 1.92 |
| 644 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 1.92 |
| 645 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.91 |
| 646 | Budd-chiari syndrome | Enrichment | JAK2 | 1.91 |
| 647 | Gingival fibromatosis | Enrichment | SOS1 | 1.91 |
| 648 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 1.91 |
| 649 | Angioma, tufted | Enrichment | KDR | 1.91 |
| 650 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.89 |
| 651 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.89 |
| 652 | Isolated growth hormone deficiency, type ib | Enrichment | GH1 | 1.89 |
| 653 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.89 |
| 654 | Beckwith-wiedemann syndrome due to imprinting defect of 11p15 | Enrichment | IGF2 | 1.89 |
| 655 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 1.87 |
| 656 | Autoimmune disease, multisystem, infantile-onset, 3 | Enrichment | CBLB | 1.87 |
| 657 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.87 |
| 658 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.87 |
| 659 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.87 |
| 660 | Keratoacanthoma | Enrichment | PIK3CA | 1.87 |
| 661 | Psoriatic arthritis | Enrichment | TNF | 1.86 |
| 662 | Hepatitis c virus | Enrichment | IFNG | 1.86 |
| 663 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.86 |
| 664 | Immunodeficiency 28 | Enrichment | IFNGR2 | 1.86 |
| 665 | Migraine without aura | Enrichment | TNF | 1.86 |
| 666 | Niemann-pick disease, type c1 | Enrichment | SMPD1 | 1.83 |
| 667 | Lymphoma | Enrichment | TP53 | 1.83 |
| 668 | Niemann-pick disease | Enrichment | SMPD1 | 1.83 |
| 669 | Histiocytoid hemangioma | Enrichment | FOS | 1.83 |
| 670 | Mccune-albright syndrome | Enrichment | GNAS | 1.83 |
| 671 | Gillespie syndrome | Enrichment | ITPR1 | 1.83 |
| 672 | Nephrotic syndrome, type 3 | Enrichment | PLCE1 | 1.83 |
| 673 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.83 |
| 674 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.83 |
| 675 | Immunodeficiency 44 | Enrichment | STAT2 | 1.83 |
| 676 | Capillary malformations, congenital | Enrichment | RASA1 | 1.81 |
| 677 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.79 |
| 678 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.79 |
| 679 | Schwannomatosis 1 | Enrichment | NF2 | 1.79 |
| 680 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 1.79 |
| 681 | Periampullary adenoma | Enrichment | APC | 1.79 |
| 682 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.79 |
| 683 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.79 |
| 684 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | TCF3 | 1.79 |
| 685 | Teratoma | Enrichment | CTNNB1 | 1.79 |
| 686 | B-lymphoblastic leukemia/lymphoma with t(17;19) | Enrichment | TCF3 | 1.79 |
| 687 | Malaria | Enrichment | FCGR2B, IKBKG | 1.77 |
| 688 | Isolated growth hormone deficiency, type ii | Enrichment | GH1 | 1.77 |
| 689 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.77 |
| 690 | Silver-russell syndrome due to a point mutation | Enrichment | IGF2 | 1.77 |
| 691 | Immunodeficiency 98 with autoinflammation, x-linked | Enrichment | TLR8 | 1.77 |
| 692 | Immunodeficiency, common variable, 2 | Enrichment | CR2 | 1.76 |
| 693 | Isolated growth hormone deficiency, type iii, with agammaglobulinemia | Enrichment | BTK | 1.76 |
| 694 | Agammaglobulinemia 4, autosomal recessive | Enrichment | BLNK | 1.76 |
| 695 | Agammaglobulinemia 6, autosomal recessive | Enrichment | CD79B | 1.76 |
| 696 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.76 |
| 697 | Maturity-onset diabetes of the young, type 11 | Enrichment | BLK | 1.76 |
| 698 | Immunodeficiency 37 | Enrichment | BCL10 | 1.76 |
| 699 | Long qt syndrome 14 | Enrichment | CALM1 | 1.76 |
| 700 | Agammaglobulinemia, x-linked | Enrichment | BTK | 1.76 |
| 701 | Immunodeficiency, common variable, 7 | Enrichment | CR2 | 1.76 |
| 702 | Agammaglobulinemia 4 | Enrichment | BLNK | 1.76 |
| 703 | Agammaglobulinemia 6 | Enrichment | CD79B | 1.76 |
| 704 | Immunodeficiency 104, severe combined | Enrichment | PTPRC | 1.76 |
| 705 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | Enrichment | JAK3 | 1.76 |
| 706 | Severe combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.76 |
| 707 | Combined immunodeficiency, x-linked | Enrichment | IL2RG | 1.76 |
| 708 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.76 |
| 709 | Wilms tumor 5 | Enrichment | BRAF | 1.76 |
| 710 | Barrett esophagus | Enrichment | ERBB2 | 1.76 |
| 711 | Dowling-degos disease | Enrichment | PSENEN | 1.76 |
| 712 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.76 |
| 713 | Cerebrovascular disease | Enrichment | PIK3CA | 1.75 |
| 714 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.75 |
| 715 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.74 |
| 716 | Retinoblastoma | Enrichment | RB1 | 1.74 |
| 717 | Watson syndrome | Enrichment | NF1 | 1.74 |
| 718 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.74 |
| 719 | Neurofibromatosis, familial spinal | Enrichment | NF1 | 1.74 |
| 720 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.74 |
| 721 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.74 |
| 722 | Chromosome 17q11.2 deletion syndrome, 1.4-mb | Enrichment | NF1 | 1.74 |
| 723 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 1.74 |
| 724 | Lynch syndrome 5 | Enrichment | MSH6 | 1.74 |
| 725 | Hypotrichosis 8 | Enrichment | RB1 | 1.74 |
| 726 | Koolen-de vries syndrome | Enrichment | ATM | 1.74 |
| 727 | Xanthinuria, type ii | Enrichment | TSC2 | 1.74 |
| 728 | Brain cancer | Enrichment | NF1 | 1.74 |
| 729 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 1.74 |
| 730 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | MSH6 | 1.74 |
| 731 | Colon adenocarcinoma | Enrichment | MSH6 | 1.74 |
| 732 | Renal cell carcinoma | Enrichment | MET | 1.74 |
| 733 | Hepatitis b | Enrichment | IFNGR1 | 1.74 |
| 734 | Cerebral malaria | Enrichment | TNF | 1.74 |
| 735 | Klippel-trenaunay-weber syndrome | Enrichment | RASA1 | 1.73 |
| 736 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.73 |
| 737 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.73 |
| 738 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.73 |
| 739 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.73 |
| 740 | Achondroplasia | Enrichment | FGFR3 | 1.73 |
| 741 | Larsen syndrome | Enrichment | FGFR3 | 1.73 |
| 742 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.73 |
| 743 | Testicular cancer | Enrichment | FGFR3 | 1.73 |
| 744 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2 | 1.72 |
| 745 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.71 |
| 746 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.71 |
| 747 | Carney complex variant | Enrichment | PRKAR1A | 1.71 |
| 748 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.71 |
| 749 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.71 |
| 750 | Developmental and epileptic encephalopathy 12 | Enrichment | PLCB1 | 1.71 |
| 751 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.71 |
| 752 | Pediatric systemic lupus erythematosus | Enrichment | STAT4 | 1.71 |
| 753 | Thrombocytopenia | Enrichment | PTPN11, SRC | 1.71 |
| 754 | Esophageal cancer | Enrichment | TP53 | 1.69 |
| 755 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.67 |
| 756 | Dementia | Enrichment | PSEN1 | 1.66 |
| 757 | Knobloch syndrome | Enrichment | PAK2 | 1.65 |
| 758 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.65 |
| 759 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.65 |
| 760 | Follicular lymphoma | Enrichment | BCL2 | 1.65 |
| 761 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.65 |
| 762 | Vascular dementia | Enrichment | TNF | 1.64 |
| 763 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.64 |
| 764 | Adenosine deaminase deficiency | Enrichment | JAK3 | 1.64 |
| 765 | Cerebral palsy | Enrichment | BRCA2, PDGFRB | 1.64 |
| 766 | Dilated cardiomyopathy | Enrichment | BRAF, RAF1 | 1.63 |
| 767 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 1.63 |
| 768 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.63 |
| 769 | Gaucher disease, type i | Enrichment | MSH6 | 1.62 |
| 770 | Chordoma | Enrichment | BRCA2 | 1.62 |
| 771 | Mismatch repair cancer syndrome 1 | Enrichment | MSH6 | 1.62 |
| 772 | Middle aortic syndrome | Enrichment | NF1 | 1.62 |
| 773 | Oculomotor apraxia | Enrichment | ATM | 1.62 |
| 774 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.61 |
| 775 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.61 |
| 776 | Anus, imperforate | Enrichment | CTNNB1 | 1.61 |
| 777 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.61 |
| 778 | Nail disease | Enrichment | FZD6 | 1.61 |
| 779 | Cellular ependymoma | Enrichment | NF2 | 1.61 |
| 780 | Tanycytic ependymoma | Enrichment | NF2 | 1.61 |
| 781 | Papillary ependymoma | Enrichment | NF2 | 1.61 |
| 782 | Spindle cell sarcoma | Enrichment | NF2 | 1.61 |
| 783 | Clear cell ependymoma | Enrichment | NF2 | 1.61 |
| 784 | Apc-associated polyposis conditions | Enrichment | APC | 1.61 |
| 785 | Kaposi sarcoma | Enrichment | IL6 | 1.61 |
| 786 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.61 |
| 787 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.61 |
| 788 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, GNAS | 1.60 |
| 789 | Mesothelioma, malignant | Enrichment | BCL10 | 1.59 |
| 790 | Agammaglobulinemia 1, autosomal recessive | Enrichment | BTK | 1.59 |
| 791 | Systemic lupus erythematosus 9 | Enrichment | CR2 | 1.59 |
| 792 | Agammaglobulinemia 1 | Enrichment | BTK | 1.59 |
| 793 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.58 |
| 794 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.58 |
| 795 | Ventricular septal defect | Enrichment | BRAF | 1.58 |
| 796 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.57 |
| 797 | Hypertrichosis | Enrichment | CREBBP | 1.57 |
| 798 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | ERBB4, PSEN1 | 1.57 |
| 799 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.56 |
| 800 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.56 |
| 801 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.55 |
| 802 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.55 |
| 803 | Herpes simplex virus encephalitis | Enrichment | TLR3 | 1.55 |
| 804 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | JAK3 | 1.54 |
| 805 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.54 |
| 806 | Hemangioma | Enrichment | PTEN | 1.54 |
| 807 | Primary ovarian insufficiency | Enrichment | JAK2, PRLR | 1.54 |
| 808 | Stroke, ischemic | Enrichment | PRKCH | 1.54 |
| 809 | Familial colorectal cancer | Enrichment | TP53 | 1.54 |
| 810 | Melanoma, uveal | Enrichment | PLCB4 | 1.53 |
| 811 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.53 |
| 812 | Silver-russell syndrome 1 | Enrichment | IGF2 | 1.53 |
| 813 | Long qt syndrome | Enrichment | CALM1, CALM2 | 1.53 |
| 814 | Glioblastoma | Enrichment | ATM | 1.52 |
| 815 | Holoprosencephaly | Enrichment | FGFR1 | 1.52 |
| 816 | Semantic dementia | Enrichment | PSEN1 | 1.51 |
| 817 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.51 |
| 818 | Megacolon | Enrichment | AKT3 | 1.51 |
| 819 | Myelodysplastic syndrome | Enrichment | TP53 | 1.50 |
| 820 | Robinow syndrome, autosomal dominant 1 | Enrichment | FZD2 | 1.49 |
| 821 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.49 |
| 822 | Pilomatrixoma | Enrichment | CTNNB1 | 1.49 |
| 823 | Alazami syndrome | Enrichment | CTNNB1 | 1.49 |
| 824 | Retinopathy of prematurity | Enrichment | FZD4 | 1.49 |
| 825 | Autosomal dominant robinow syndrome | Enrichment | FZD2 | 1.49 |
| 826 | Eyelid coloboma | Enrichment | FZD5 | 1.49 |
| 827 | Full schwannomatosis | Enrichment | NF2 | 1.49 |
| 828 | Benign ependymoma | Enrichment | NF2 | 1.49 |
| 829 | Lens coloboma | Enrichment | FZD5 | 1.49 |
| 830 | Gastroesophageal reflux | Enrichment | RPS6KA3 | 1.47 |
| 831 | Isolated growth hormone deficiency, type ia | Enrichment | GH1 | 1.47 |
| 832 | Orthostatic intolerance | Enrichment | RPS6KA3 | 1.47 |
| 833 | Brachydactyly | Enrichment | GNAS | 1.47 |
| 834 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.45 |
| 835 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.45 |
| 836 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.45 |
| 837 | Keratoconus | Enrichment | TSC1 | 1.45 |
| 838 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.45 |
| 839 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.44 |
| 840 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.44 |
| 841 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.44 |
| 842 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.41 |
| 843 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 1.41 |
| 844 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 1.41 |
| 845 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 1.40 |
| 846 | Aortic valve disease 1 | Enrichment | SOS1 | 1.40 |
| 847 | Charge syndrome | Enrichment | EP300 | 1.40 |
| 848 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.40 |
| 849 | Robinow syndrome, autosomal recessive 1 | Enrichment | FZD2 | 1.40 |
| 850 | Norrie disease | Enrichment | FZD4 | 1.40 |
| 851 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.40 |
| 852 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.40 |
| 853 | Robinow syndrome, autosomal dominant 2 | Enrichment | FZD2 | 1.40 |
| 854 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.40 |
| 855 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.40 |
| 856 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.40 |
| 857 | Osteoporosis | Enrichment | SRC | 1.39 |
| 858 | Seckel syndrome | Enrichment | ATR | 1.39 |
| 859 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.38 |
| 860 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.38 |
| 861 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.38 |
| 862 | Nephrotic syndrome, type 1 | Enrichment | PLCE1 | 1.36 |
| 863 | Developmental and epileptic encephalopathy 14 | Enrichment | PLCB1 | 1.36 |
| 864 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.36 |
| 865 | Polymicrogyria | Enrichment | AKT3 | 1.36 |
| 866 | Aplastic anemia | Enrichment | IFNG | 1.35 |
| 867 | Moyamoya angiopathy | Enrichment | ABL1 | 1.34 |
| 868 | Ewing sarcoma | Enrichment | ETV4 | 1.33 |
| 869 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.32 |
| 870 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 1.32 |
| 871 | Coloboma of optic nerve | Enrichment | FZD5 | 1.32 |
| 872 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.32 |
| 873 | Autosomal recessive robinow syndrome | Enrichment | FZD2 | 1.32 |
| 874 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.32 |
| 875 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.32 |
| 876 | Pectus excavatum | Enrichment | PTPN11 | 1.32 |
| 877 | Coronary heart disease 5 | Enrichment | IKBKG | 1.31 |
| 878 | Asthma | Enrichment | TNF | 1.31 |
| 879 | West syndrome | Enrichment | PLCB1, TSC2 | 1.30 |
| 880 | Rheumatoid arthritis | Enrichment | TLR1 | 1.30 |
| 881 | Glaucoma, primary open angle | Enrichment | CARD10 | 1.29 |
| 882 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.29 |
| 883 | Epicanthus | Enrichment | PTPN11 | 1.28 |
| 884 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.28 |
| 885 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.28 |
| 886 | Neurofibromatosis, type i | Enrichment | NF1 | 1.27 |
| 887 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2 | 1.27 |
| 888 | Polydactyly | Enrichment | BRCA2 | 1.27 |
| 889 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.27 |
| 890 | Colonic benign neoplasm | Enrichment | ATM | 1.27 |
| 891 | Hypercholesterolemia, familial, 1 | Enrichment | GHR | 1.27 |
| 892 | Coats disease | Enrichment | FZD4 | 1.25 |
| 893 | Alzheimer's disease | Enrichment | PSEN1 | 1.25 |
| 894 | Congenital nervous system abnormality | Enrichment | CTNNB1, PTEN, TSC2 | 1.25 |
| 895 | Nervous system disease | Enrichment | CTNNB1, PTEN, TSC2 | 1.25 |
| 896 | Omenn syndrome | Enrichment | IL2RG | 1.25 |
| 897 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.23 |
| 898 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2 | 1.23 |
| 899 | Primary bone dysplasia | Enrichment | FGFR3 | 1.22 |
| 900 | Heart disease | Enrichment | CREBBP | 1.21 |
| 901 | Immune deficiency disease | Enrichment | SYK | 1.21 |
| 902 | Multiple sclerosis | Enrichment | TNFRSF1A | 1.21 |
| 903 | Combined immunodeficiency | Enrichment | IL2RG | 1.21 |
| 904 | Ichthyosis | Enrichment | IL2RB | 1.21 |
| 905 | Combined t cell and b cell immunodeficiency | Enrichment | IL2RG | 1.21 |
| 906 | Combined t and b cell immunodeficiency | Enrichment | IL2RG | 1.21 |
| 907 | Familial hypercholesterolemia | Enrichment | GHR | 1.21 |
| 908 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.19 |
| 909 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.18 |
| 910 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.18 |
| 911 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.18 |
| 912 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.18 |
| 913 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.18 |
| 914 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.18 |
| 915 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.17 |
| 916 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.16 |
| 917 | Septooptic dysplasia | Enrichment | FGFR1 | 1.15 |
| 918 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.14 |
| 919 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.14 |
| 920 | Alzheimer disease, familial, 1 | Enrichment | PSEN1 | 1.14 |
| 921 | Beckwith-wiedemann syndrome | Enrichment | IGF2 | 1.13 |
| 922 | Patent foramen ovale | Enrichment | PTPN11 | 1.11 |
| 923 | Cat eye syndrome | Enrichment | FZD5 | 1.10 |
| 924 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.10 |
| 925 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.09 |
| 926 | Pheochromocytoma | Enrichment | NF1 | 1.09 |
| 927 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.09 |
| 928 | Cleft lip/palate | Enrichment | PDGFRA | 1.09 |
| 929 | Achromatopsia | Enrichment | ATF6 | 1.08 |
| 930 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.06 |
| 931 | Kidney disease | Enrichment | TSC1 | 1.06 |
| 932 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.03 |
| 933 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.03 |
| 934 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 1.03 |
| 935 | Skin disease | Enrichment | NCSTN | 1.03 |
| 936 | Focal segmental glomerulosclerosis | Enrichment | PLCE1 | 1.03 |
| 937 | Left ventricular noncompaction | Enrichment | RAF1 | 1.01 |
| 938 | Diamond-blackfan anemia | Enrichment | TP53 | 1.00 |
| 939 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 0.99 |
| 940 | Stereotypic movement disorder | Enrichment | TCF4 | 0.99 |
| 941 | Tooth agenesis | Enrichment | TGFA | 0.99 |
| 942 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 0.99 |
| 943 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.99 |
| 944 | Autoinflammatory disease | Enrichment | TNFRSF1A | 0.98 |
| 945 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 0.98 |
| 946 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2 | 0.96 |
| 947 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 0.94 |
| 948 | Strabismus | Enrichment | PTPN11 | 0.94 |
| 949 | Coloboma of macula | Enrichment | FZD5 | 0.94 |
| 950 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | NF1 | 0.92 |
| 951 | Kallmann syndrome | Enrichment | FGFR1 | 0.89 |
| 952 | Polycystic liver disease | Enrichment | CTNNB1 | 0.88 |
| 953 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.88 |
| 954 | Sudden infant death syndrome | Enrichment | CALM2 | 0.86 |
| 955 | Non-syndromic x-linked intellectual disability | Enrichment | RPS6KA3 | 0.84 |
| 956 | Tetralogy of fallot | Enrichment | KDR | 0.83 |
| 957 | Genetic steroid-resistant nephrotic syndrome | Enrichment | PLCE1 | 0.81 |
| 958 | Severe covid-19 | Enrichment | JAK3 | 0.81 |
| 959 | Dystonia | Enrichment | CAMK2B | 0.80 |
| 960 | Maturity-onset diabetes of the young | Enrichment | BLK | 0.79 |
| 961 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.75 |
| 962 | Primary autosomal recessive microcephaly | Enrichment | CDK6 | 0.75 |
| 963 | Connective tissue disease | Enrichment | FGFR3 | 0.74 |
| 964 | Benign epilepsy with centrotemporal spikes | Enrichment | PLCB1 | 0.74 |
| 965 | Cakut | Enrichment | ETV4 | 0.73 |
| 966 | Centralopathic epilepsy | Enrichment | PLCB1 | 0.72 |
| 967 | Nephrotic syndrome | Enrichment | PLCE1 | 0.72 |
| 968 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.65 |
| 969 | Spastic ataxia | Enrichment | ITPR1 | 0.64 |
| 970 | Sensorineural hearing loss | Enrichment | HGF | 0.59 |
| 971 | Autism | Enrichment | CREBBP | 0.56 |
| 972 | Undetermined early-onset epileptic encephalopathy | Enrichment | PPP3CA | 0.55 |
| 973 | Distal arthrogryposis | Enrichment | FZD3 | 0.53 |
| 974 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.50 |
| 975 | Cone-rod dystrophy 2 | Enrichment | ATF6 | 0.35 |
| 976 | Complex neurodevelopmental disorder | Enrichment | PAK3 | 0.30 |
| 977 | Hereditary retinal dystrophy | Enrichment | FZD4 | 0.04 |
| 978 | Fundus dystrophy | Enrichment | FZD4 | 0.04 |