| 1 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA, TP53, TSC1, TSC2 | 9.02 |
| 2 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.88 |
| 3 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.88 |
| 4 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA, RHEB | 8.19 |
| 5 | Familial thyroid dyshormonogenesis | Enrichment | DUOX2, DUOXA2, IYD, SLC5A5 | 7.71 |
| 6 | Rasopathy | Enrichment | HRAS, MAP2K1, RAF1, SLC26A4, SOS1 | 6.35 |
| 7 | Body mass index quantitative trait locus 11 | Enrichment | ADRB3, AGRP, AQP7, MC4R, POMC, PPARG | 6.25 |
| 8 | Congenital hypothyroidism | Enrichment | DUOX2, DUOXA2, SLC5A5, TSHR | 6.21 |
| 9 | Bladder cancer | Enrichment | CTNNB1, HRAS, PIK3CA, TP53, TSC1 | 6.10 |
| 10 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, RAF1, SOS1 | 5.77 |
| 11 | Noonan syndrome 3 | Enrichment | HRAS, RAF1, SOS1 | 5.12 |
| 12 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA, TP53 | 5.12 |
| 13 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, RAF1, SOS1 | 4.98 |
| 14 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 4.74 |
| 15 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 4.59 |
| 16 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1, PIK3CA | 4.45 |
| 17 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.43 |
| 18 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.43 |
| 19 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA, TP53 | 4.33 |
| 20 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 3.96 |
| 21 | Hamartoma | Enrichment | TSC1, TSC2 | 3.96 |
| 22 | Keratoacanthoma | Enrichment | NOTCH1, PIK3CA | 3.96 |
| 23 | Gliosarcoma | Enrichment | FGFR1, PPARG, TP53 | 3.93 |
| 24 | Giant cell glioblastoma | Enrichment | FGFR1, PPARG, TP53 | 3.85 |
| 25 | Colorectal cancer | Enrichment | CTNNB1, PIK3CA, PPARG, SRC, TP53 | 3.72 |
| 26 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 3.66 |
| 27 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.66 |
| 28 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA, TP53 | 3.50 |
| 29 | Rhabdomyosarcoma 2 | Enrichment | FOXO1, TP53 | 3.44 |
| 30 | Ovarian cancer | Enrichment | CTNNB1, PIK3CA, TP53, TSC2, TSHR | 3.42 |
| 31 | Li-fraumeni syndrome | Enrichment | MDM2, TP53 | 3.26 |
| 32 | Adrenocortical carcinoma | Enrichment | CTNNB1, TP53 | 3.26 |
| 33 | Breast adenocarcinoma | Enrichment | PIK3CA, TP53 | 3.26 |
| 34 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.12 |
| 35 | Hypothyroidism, congenital, nongoitrous, 2 | Enrichment | SLC26A4, TSHR | 3.12 |
| 36 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.12 |
| 37 | Pilomyxoid astrocytoma | Enrichment | FGFR1, RAF1 | 3.12 |
| 38 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.00 |
| 39 | Septooptic dysplasia | Enrichment | FGFR1, SHH | 2.63 |
| 40 | Aortic valve disease 1 | Enrichment | NOTCH1, SOS1 | 2.56 |
| 41 | Rare genetic intellectual disability | Enrichment | KDM3B, MTOR | 2.43 |
| 42 | Rhabdomyosarcoma | Enrichment | HRAS, TP53 | 2.38 |
| 43 | Microform holoprosencephaly | Enrichment | FGFR1, SHH | 2.38 |
| 44 | Lobar holoprosencephaly | Enrichment | FGFR1, SHH | 2.38 |
| 45 | Autism spectrum disorder | Enrichment | ACTL6B, KDM3B, MAP2K1, TSC2 | 2.35 |
| 46 | Semilobar holoprosencephaly | Enrichment | FGFR1, SHH | 2.27 |
| 47 | Diffuse large b-cell lymphoma | Enrichment | FOXO1, TP53 | 2.23 |
| 48 | Holoprosencephaly 3 | Enrichment | SHH | 2.21 |
| 49 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.21 |
| 50 | Macrodactyly | Enrichment | PIK3CA | 2.21 |
| 51 | Insulinomatosis and diabetes mellitus | Enrichment | MAFA | 2.21 |
| 52 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.21 |
| 53 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.21 |
| 54 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.21 |
| 55 | Thyroid dyshormonogenesis 4 | Enrichment | IYD | 2.21 |
| 56 | Thyrotropin-releasing hormone deficiency | Enrichment | TRH | 2.21 |
| 57 | Thyroid dyshormonogenesis 1 | Enrichment | SLC5A5 | 2.21 |
| 58 | Noonan syndrome 5 | Enrichment | RAF1 | 2.21 |
| 59 | Noonan syndrome 4 | Enrichment | SOS1 | 2.21 |
| 60 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.21 |
| 61 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.21 |
| 62 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.21 |
| 63 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.21 |
| 64 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.21 |
| 65 | Type 2 diabetes 5 | Enrichment | TBC1D4 | 2.21 |
| 66 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.21 |
| 67 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.21 |
| 68 | Thyroid dyshormonogenesis 6 | Enrichment | DUOX2 | 2.21 |
| 69 | Accelerated tumor formation | Enrichment | MDM2 | 2.21 |
| 70 | Intellectual developmental disorder with severe speech and ambulation defects | Enrichment | ACTL6B | 2.21 |
| 71 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.21 |
| 72 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.21 |
| 73 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.21 |
| 74 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.21 |
| 75 | Allan-herndon-dudley syndrome | Enrichment | SLC16A2 | 2.21 |
| 76 | Hypothyroidism, congenital, nongoitrous, 4 | Enrichment | TSHB | 2.21 |
| 77 | Papilloma of choroid plexus | Enrichment | TP53 | 2.21 |
| 78 | Body mass index quantitative trait locus 20 | Enrichment | MC4R | 2.21 |
| 79 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.21 |
| 80 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.21 |
| 81 | Left ventricular noncompaction 8 | Enrichment | PRDM16 | 2.21 |
| 82 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.21 |
| 83 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.21 |
| 84 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.21 |
| 85 | Melorheostosis | Enrichment | MAP2K1 | 2.21 |
| 86 | Leopard syndrome 2 | Enrichment | RAF1 | 2.21 |
| 87 | Glycerol quantitative trait locus | Enrichment | AQP7 | 2.21 |
| 88 | Cleft palate, psychomotor retardation, and distinctive facial features | Enrichment | KDM1A | 2.21 |
| 89 | Ductal carcinoma in situ | Enrichment | TP53 | 2.21 |
| 90 | Hartsfield syndrome | Enrichment | FGFR1 | 2.21 |
| 91 | Thrombocytopenia 6 | Enrichment | SRC | 2.21 |
| 92 | Thyroid hormone metabolism, abnormal, 2 | Enrichment | DIO1 | 2.21 |
| 93 | Rare genetic epilepsy | Enrichment | KDM3B | 2.21 |
| 94 | Obesity due to melanocortin 4 receptor deficiency | Enrichment | MC4R | 2.21 |
| 95 | Trigonitis | Enrichment | RAF1 | 2.21 |
| 96 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.21 |
| 97 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.21 |
| 98 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.21 |
| 99 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.21 |
| 100 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.21 |
| 101 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | Enrichment | KDM1A | 2.21 |
| 102 | Hypospadias | Enrichment | PIK3CA | 2.21 |
| 103 | Capillary hemangioma | Enrichment | AKT3 | 2.21 |
| 104 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.21 |
| 105 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | Enrichment | THRA | 2.21 |
| 106 | Acth-independent macronodular adrenal hyperplasia 3 | Enrichment | KDM1A | 2.21 |
| 107 | Choroid plexus cancer | Enrichment | TP53 | 2.21 |
| 108 | Rare venous malformation | Enrichment | PIK3CA | 2.21 |
| 109 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.21 |
| 110 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.21 |
| 111 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.21 |
| 112 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.21 |
| 113 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.21 |
| 114 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.21 |
| 115 | Primary triglyceride deposit cardiomyovasculopathy | Enrichment | PNPLA2 | 2.21 |
| 116 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.21 |
| 117 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.21 |
| 118 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | Enrichment | THRB | 2.21 |
| 119 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.21 |
| 120 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.21 |
| 121 | Lethal brain and heart developmental defects | Enrichment | SIRT6 | 2.21 |
| 122 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.21 |
| 123 | Generalized resistance to thyroid hormone | Enrichment | THRB | 2.21 |
| 124 | Macrodactyly of toe | Enrichment | PIK3CA | 2.21 |
| 125 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.21 |
| 126 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.21 |
| 127 | Hepatoblastoma | Enrichment | CTNNB1, TP53 | 2.14 |
| 128 | Thyroid hormone resistance, selective pituitary | Enrichment | THRB | 1.91 |
| 129 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.91 |
| 130 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.91 |
| 131 | Costello syndrome | Enrichment | HRAS | 1.91 |
| 132 | Thyroid hormone resistance, generalized, autosomal dominant | Enrichment | THRB | 1.91 |
| 133 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.91 |
| 134 | Thyroid dyshormonogenesis 5 | Enrichment | DUOXA2 | 1.91 |
| 135 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 1.91 |
| 136 | Thyroid hormone resistance, generalized, autosomal recessive | Enrichment | THRB | 1.91 |
| 137 | Cervical cancer | Enrichment | TP53 | 1.91 |
| 138 | Pulmonic stenosis | Enrichment | SOS1 | 1.91 |
| 139 | Hyperthyroidism, familial gestational | Enrichment | TSHR | 1.91 |
| 140 | Neutral lipid storage disease with myopathy | Enrichment | PNPLA2 | 1.91 |
| 141 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.91 |
| 142 | Pfeiffer syndrome | Enrichment | FGFR1 | 1.91 |
| 143 | Jackson-weiss syndrome | Enrichment | FGFR1 | 1.91 |
| 144 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.91 |
| 145 | Solitary median maxillary central incisor | Enrichment | SHH | 1.91 |
| 146 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.91 |
| 147 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.91 |
| 148 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.91 |
| 149 | Hypothyroidism, congenital, nongoitrous, 6 | Enrichment | THRA | 1.91 |
| 150 | Cebalid syndrome | Enrichment | MTOR | 1.91 |
| 151 | Thyroid hormone resistance syndrome | Enrichment | THRB | 1.91 |
| 152 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.91 |
| 153 | Diets-jongmans syndrome | Enrichment | KDM3B | 1.91 |
| 154 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.91 |
| 155 | Congenital fibrosarcoma | Enrichment | TP53 | 1.91 |
| 156 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.91 |
| 157 | Sarcoma | Enrichment | TP53 | 1.91 |
| 158 | Cervix carcinoma | Enrichment | TP53 | 1.91 |
| 159 | Hodgkin's lymphoma | Enrichment | TP53 | 1.91 |
| 160 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.91 |
| 161 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.91 |
| 162 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.91 |
| 163 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.91 |
| 164 | Developmental and epileptic encephalopathy 76 | Enrichment | ACTL6B | 1.91 |
| 165 | Familial partial lipodystrophy | Enrichment | PPARG | 1.91 |
| 166 | Teratoma | Enrichment | CTNNB1 | 1.91 |
| 167 | Isolated radial hemimelia | Enrichment | SHH | 1.91 |
| 168 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.91 |
| 169 | Wooly hair nevus | Enrichment | HRAS | 1.91 |
| 170 | Prostate cancer | Enrichment | PIK3CA, TP53 | 1.87 |
| 171 | Differentiated thyroid carcinoma | Enrichment | HRAS, PPARG | 1.87 |
| 172 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.74 |
| 173 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.74 |
| 174 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.74 |
| 175 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.74 |
| 176 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.74 |
| 177 | Syndactyly, type iv | Enrichment | SHH | 1.74 |
| 178 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.74 |
| 179 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.74 |
| 180 | Obesity, early-onset, with adrenal insufficiency and red hair | Enrichment | POMC | 1.74 |
| 181 | Nuchal bleb, familial | Enrichment | SOS1 | 1.74 |
| 182 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.74 |
| 183 | Osteogenic sarcoma | Enrichment | TP53 | 1.74 |
| 184 | Hyperthyroidism, nonautoimmune | Enrichment | TSHR | 1.74 |
| 185 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.74 |
| 186 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.74 |
| 187 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.74 |
| 188 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.74 |
| 189 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.74 |
| 190 | Lipodystrophy, familial partial, type 4 | Enrichment | PLIN1 | 1.74 |
| 191 | Anus, imperforate | Enrichment | CTNNB1 | 1.74 |
| 192 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.74 |
| 193 | Hypothyroidism, congenital, nongoitrous, 1 | Enrichment | TSHR | 1.74 |
| 194 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.74 |
| 195 | Desmoid tumor | Enrichment | CTNNB1 | 1.74 |
| 196 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.74 |
| 197 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.74 |
| 198 | Anaplastic astrocytoma | Enrichment | TP53 | 1.74 |
| 199 | Xanthinuria, type ii | Enrichment | TSC2 | 1.74 |
| 200 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 1.74 |
| 201 | Squamous cell carcinoma | Enrichment | TP53 | 1.74 |
| 202 | Adenocarcinoma | Enrichment | TP53 | 1.74 |
| 203 | Bone osteosarcoma | Enrichment | TP53 | 1.74 |
| 204 | Spermatocytoma | Enrichment | HRAS | 1.74 |
| 205 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | KDM1A | 1.74 |
| 206 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.74 |
| 207 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.74 |
| 208 | Familial hyperthyroidism due to mutations in tsh receptor | Enrichment | TSHR | 1.74 |
| 209 | Obesity due to pro-opiomelanocortin deficiency | Enrichment | POMC | 1.74 |
| 210 | Left ventricular noncompaction | Enrichment | PRDM16, RAF1 | 1.71 |
| 211 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.62 |
| 212 | Polydactyly, preaxial ii | Enrichment | SHH | 1.62 |
| 213 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.62 |
| 214 | Small cell cancer of the lung | Enrichment | TP53 | 1.62 |
| 215 | Schizencephaly | Enrichment | SHH | 1.62 |
| 216 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.62 |
| 217 | Smith-lemli-opitz syndrome | Enrichment | TSHR | 1.62 |
| 218 | Lipodystrophy, congenital generalized, type 2 | Enrichment | ACTL6B | 1.62 |
| 219 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.62 |
| 220 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.62 |
| 221 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.62 |
| 222 | Pilomatrixoma | Enrichment | CTNNB1 | 1.62 |
| 223 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.62 |
| 224 | Alazami syndrome | Enrichment | CTNNB1 | 1.62 |
| 225 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.62 |
| 226 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.62 |
| 227 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.62 |
| 228 | Cerebrovascular disease | Enrichment | PIK3CA | 1.62 |
| 229 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.62 |
| 230 | Craniopharyngioma | Enrichment | CTNNB1 | 1.62 |
| 231 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.62 |
| 232 | Epidermolytic nevus | Enrichment | HRAS | 1.62 |
| 233 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.62 |
| 234 | Gingival fibromatosis | Enrichment | SOS1 | 1.62 |
| 235 | Type 2 diabetes mellitus | Enrichment | PPARG, TBC1D4 | 1.57 |
| 236 | Gastric cancer | Enrichment | PIK3CA, TP53 | 1.55 |
| 237 | Hereditary breast carcinoma | Enrichment | PIK3CA, TP53 | 1.53 |
| 238 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.52 |
| 239 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.52 |
| 240 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | Enrichment | SLC26A4 | 1.52 |
| 241 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.52 |
| 242 | Lymphoma | Enrichment | TP53 | 1.52 |
| 243 | Holoprosencephaly | Enrichment | FGFR1 | 1.52 |
| 244 | Acute megakaryocytic leukemia | Enrichment | TP53 | 1.52 |
| 245 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.52 |
| 246 | Thrombocytopenia | Enrichment | ITGB3, SRC | 1.46 |
| 247 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.44 |
| 248 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.44 |
| 249 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.44 |
| 250 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.44 |
| 251 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.44 |
| 252 | Pendred syndrome | Enrichment | SLC26A4 | 1.44 |
| 253 | Keratoconus | Enrichment | TSC1 | 1.44 |
| 254 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.44 |
| 255 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.44 |
| 256 | Familial isolated dilated cardiomyopathy | Enrichment | PRDM16, RAF1 | 1.38 |
| 257 | Esophageal cancer | Enrichment | TP53 | 1.38 |
| 258 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.38 |
| 259 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.38 |
| 260 | Myelofibrosis | Enrichment | SRC | 1.38 |
| 261 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.38 |
| 262 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.38 |
| 263 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.38 |
| 264 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.38 |
| 265 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.38 |
| 266 | Essential thrombocythemia | Enrichment | TP53 | 1.38 |
| 267 | Megacolon | Enrichment | AKT3 | 1.38 |
| 268 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.38 |
| 269 | Overgrowth syndrome | Enrichment | MTOR | 1.38 |
| 270 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.38 |
| 271 | Myeloma, multiple | Enrichment | RXRA, TP53 | 1.34 |
| 272 | Inherited cancer-predisposing syndrome | Enrichment | TP53, TSC1, TSC2 | 1.33 |
| 273 | Glioma susceptibility 1 | Enrichment | TP53 | 1.32 |
| 274 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.32 |
| 275 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.32 |
| 276 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.32 |
| 277 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.27 |
| 278 | Primary hyperaldosteronism | Enrichment | TP53 | 1.27 |
| 279 | Cowden syndrome | Enrichment | PIK3CA | 1.27 |
| 280 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.23 |
| 281 | Polymicrogyria | Enrichment | AKT3 | 1.23 |
| 282 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.23 |
| 283 | Familial colorectal cancer | Enrichment | TP53 | 1.23 |
| 284 | Myelodysplastic syndrome | Enrichment | TP53 | 1.19 |
| 285 | Specific learning disability | Enrichment | MAPK1 | 1.19 |
| 286 | Meningioma | Enrichment | PIK3CA | 1.15 |
| 287 | Autism | Enrichment | ACTL6B, SHH | 1.14 |
| 288 | Chromosome 1p36 deletion syndrome | Enrichment | PRDM16 | 1.12 |
| 289 | Breast cancer | Enrichment | PIK3CA, TP53 | 1.11 |
| 290 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.08 |
| 291 | Osteoporosis | Enrichment | SRC | 1.08 |
| 292 | Medulloblastoma | Enrichment | CTNNB1 | 1.08 |
| 293 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.08 |
| 294 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.08 |
| 295 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.08 |
| 296 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.06 |
| 297 | Lynch syndrome | Enrichment | PIK3CA | 1.06 |
| 298 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.06 |
| 299 | Kidney disease | Enrichment | TSC1 | 1.06 |
| 300 | Septopreoptic holoprosencephaly | Enrichment | SHH | 1.06 |
| 301 | Midline interhemispheric variant of holoprosencephaly | Enrichment | SHH | 1.06 |
| 302 | Wolff-parkinson-white syndrome | Enrichment | SLC26A4 | 1.03 |
| 303 | Polycystic liver disease | Enrichment | CTNNB1 | 1.00 |
| 304 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.00 |
| 305 | Alobar holoprosencephaly | Enrichment | SHH | 1.00 |
| 306 | Heart, malformation of | Enrichment | MAPK1 | 0.98 |
| 307 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.98 |
| 308 | Macs syndrome | Enrichment | SHH | 0.94 |
| 309 | Endometrial cancer | Enrichment | PIK3CA | 0.92 |
| 310 | Myocardial infarction | Enrichment | ITGB3 | 0.90 |
| 311 | Tooth agenesis | Enrichment | FGFR1 | 0.90 |
| 312 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.88 |
| 313 | Kallmann syndrome | Enrichment | FGFR1 | 0.88 |
| 314 | Ear malformation | Enrichment | SLC26A4 | 0.86 |
| 315 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.86 |
| 316 | Congenital nervous system abnormality | Enrichment | CTNNB1, TSC2 | 0.86 |
| 317 | Nervous system disease | Enrichment | CTNNB1, TSC2 | 0.86 |
| 318 | Pancreatic cancer | Enrichment | TP53 | 0.85 |
| 319 | Tetralogy of fallot | Enrichment | NOTCH1 | 0.83 |
| 320 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.83 |
| 321 | Severe covid-19 | Enrichment | ITGAV | 0.79 |
| 322 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.76 |
| 323 | Microcephaly | Enrichment | CTNNB1, MAPK1 | 0.76 |
| 324 | Lung cancer | Enrichment | PIK3CA | 0.75 |
| 325 | Connective tissue disease | Enrichment | NOTCH1 | 0.75 |
| 326 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.74 |
| 327 | Diamond-blackfan anemia | Enrichment | TP53 | 0.70 |
| 328 | Leukemia, acute myeloid | Enrichment | TP53 | 0.66 |
| 329 | Epilepsy | Enrichment | TSHR | 0.66 |
| 330 | Hereditary spastic paraplegia | Enrichment | SLC16A2 | 0.64 |
| 331 | West syndrome | Enrichment | TSC2 | 0.63 |
| 332 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.63 |
| 333 | Sensorineural hearing loss | Enrichment | SLC26A4 | 0.59 |
| 334 | Hypertelorism | Enrichment | PIK3CA | 0.56 |
| 335 | Hereditary breast ovarian cancer syndrome | Enrichment | TP53 | 0.54 |
| 336 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | KLB | 0.54 |
| 337 | Undetermined early-onset epileptic encephalopathy | Enrichment | ACTL6B | 0.54 |
| 338 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PPARGC1A | 0.52 |
| 339 | Primary ovarian insufficiency | Enrichment | SIRT6 | 0.52 |
| 340 | Deafness, autosomal recessive | Enrichment | SLC26A4 | 0.49 |
| 341 | Autosomal recessive nonsyndromic deafness | Enrichment | SLC26A4 | 0.49 |
| 342 | Rare genetic deafness | Enrichment | SLC26A4 | 0.41 |
| 343 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.41 |
| 344 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | SLC26A4 | 0.37 |
| 345 | Complex neurodevelopmental disorder | Enrichment | ACTL6B | 0.27 |