| 1 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1, TP53 | 5.60 |
| 2 | Bladder cancer | Enrichment | CDKN2A, CTNNB1, PTEN, TP53 | 4.88 |
| 3 | Breast cancer | Enrichment | ESR1, IL2, JUN, PTEN, TP53 | 4.41 |
| 4 | Human immunodeficiency virus type 1 | Enrichment | CCL2, IFNG, IL10 | 4.01 |
| 5 | Ovarian cancer | Enrichment | CDKN1B, CDKN2A, CTNNB1, PTEN, TP53 | 3.80 |
| 6 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, MYB, MYC | 3.68 |
| 7 | Histiocytoid hemangioma | Enrichment | FOS, FOSB | 3.60 |
| 8 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.60 |
| 9 | Li-fraumeni syndrome | Enrichment | CDKN2A, TP53 | 3.42 |
| 10 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10, TGFB1 | 3.42 |
| 11 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 3.28 |
| 12 | Gallbladder cancer | Enrichment | CTNNB1, TP53 | 3.28 |
| 13 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.28 |
| 14 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 3.05 |
| 15 | Primary hyperaldosteronism | Enrichment | NR3C1, TP53 | 3.05 |
| 16 | Colorectal cancer | Enrichment | CCND1, CTNNB1, EP300, TP53 | 3.00 |
| 17 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 2.95 |
| 18 | Melanoma | Enrichment | CDKN2A, PTEN | 2.95 |
| 19 | Gastric cancer | Enrichment | CDKN2A, PTEN, TP53 | 2.87 |
| 20 | Myelodysplastic syndrome | Enrichment | GATA2, TP53 | 2.87 |
| 21 | Hereditary breast carcinoma | Enrichment | ESR1, PTEN, TP53 | 2.84 |
| 22 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, TP53 | 2.79 |
| 23 | Rhabdomyosarcoma | Enrichment | PTEN, TP53 | 2.53 |
| 24 | Diffuse large b-cell lymphoma | Enrichment | PTEN, TP53 | 2.38 |
| 25 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, CDKN2A, PTEN, TP53 | 2.34 |
| 26 | Hepatoblastoma | Enrichment | CTNNB1, TP53 | 2.30 |
| 27 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.29 |
| 28 | Ehlers-danlos syndrome, cardiac valvular type | Enrichment | COL1A2 | 2.29 |
| 29 | Hypophosphatemic rickets, autosomal recessive, 1 | Enrichment | DMP1 | 2.29 |
| 30 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.29 |
| 31 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.29 |
| 32 | Cataract 21, multiple types | Enrichment | MAF | 2.29 |
| 33 | Congenital myopathy 2a, typical, autosomal dominant | Enrichment | ACTA1 | 2.29 |
| 34 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.29 |
| 35 | Glucocorticoid resistance, generalized | Enrichment | NR3C1 | 2.29 |
| 36 | Myopathy, scapulohumeroperoneal | Enrichment | ACTA1 | 2.29 |
| 37 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.29 |
| 38 | Auriculocondylar syndrome 3 | Enrichment | EDN1 | 2.29 |
| 39 | Immunodeficiency 69 | Enrichment | IFNG | 2.29 |
| 40 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.29 |
| 41 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 | Enrichment | COL1A2 | 2.29 |
| 42 | Lymphedema, primary, with myelodysplasia | Enrichment | GATA2 | 2.29 |
| 43 | Graft-versus-host disease | Enrichment | IL10 | 2.29 |
| 44 | Papilloma of choroid plexus | Enrichment | TP53 | 2.29 |
| 45 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.29 |
| 46 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.29 |
| 47 | Ayme-gripp syndrome | Enrichment | MAF | 2.29 |
| 48 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.29 |
| 49 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.29 |
| 50 | Question mark ears, isolated | Enrichment | EDN1 | 2.29 |
| 51 | Birdshot chorioretinopathy | Enrichment | HLA-A | 2.29 |
| 52 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.29 |
| 53 | Immunodeficiency 21 | Enrichment | GATA2 | 2.29 |
| 54 | Congenital myopathy 2b, severe infantile, autosomal recessive | Enrichment | ACTA1 | 2.29 |
| 55 | Glioma susceptibility 2 | Enrichment | PTEN | 2.29 |
| 56 | Ductal carcinoma in situ | Enrichment | TP53 | 2.29 |
| 57 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.29 |
| 58 | Deafness-lymphedema-leukemia syndrome | Enrichment | GATA2 | 2.29 |
| 59 | Congenital myopathy 2c, severe infantile, autosomal dominant | Enrichment | ACTA1 | 2.29 |
| 60 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.29 |
| 61 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.29 |
| 62 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.29 |
| 63 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.29 |
| 64 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.29 |
| 65 | Choroid plexus cancer | Enrichment | TP53 | 2.29 |
| 66 | Zebra body myopathy | Enrichment | ACTA1 | 2.29 |
| 67 | Aplasia cutis-enamel dysplasia syndrome | Enrichment | FOSL2 | 2.29 |
| 68 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.29 |
| 69 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.29 |
| 70 | Actin-accumulation myopathy | Enrichment | ACTA1 | 2.29 |
| 71 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.29 |
| 72 | Hepatocellular carcinoma | Enrichment | CTNNB1, TP53 | 2.26 |
| 73 | Pancreatic cancer | Enrichment | CDKN2A, TP53 | 2.15 |
| 74 | Prostate cancer | Enrichment | PTEN, TP53 | 2.02 |
| 75 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.99 |
| 76 | Burkitt lymphoma | Enrichment | MYC | 1.99 |
| 77 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.99 |
| 78 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.99 |
| 79 | Bruck syndrome 1 | Enrichment | COL1A2 | 1.99 |
| 80 | Galactosemia ii | Enrichment | NR3C1 | 1.99 |
| 81 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.99 |
| 82 | Quebec platelet disorder | Enrichment | PLAU | 1.99 |
| 83 | Cervical cancer | Enrichment | TP53 | 1.99 |
| 84 | Severe cutaneous adverse reaction | Enrichment | HLA-A | 1.99 |
| 85 | Histiocytoma, angiomatoid fibrous | Enrichment | CREB1 | 1.99 |
| 86 | Segawa syndrome, autosomal recessive | Enrichment | TH | 1.99 |
| 87 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.99 |
| 88 | Atrial fibrillation, familial, 6 | Enrichment | NPPA | 1.99 |
| 89 | Developmental and epileptic encephalopathy 28 | Enrichment | MAF | 1.99 |
| 90 | Hallermann-streiff syndrome | Enrichment | GJA1 | 1.99 |
| 91 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.99 |
| 92 | Syndactyly, type iii | Enrichment | GJA1 | 1.99 |
| 93 | Syndactyly, type v | Enrichment | GJA1 | 1.99 |
| 94 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.99 |
| 95 | Spinocerebellar ataxia, autosomal recessive 12 | Enrichment | MAF | 1.99 |
| 96 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A2 | 1.99 |
| 97 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.99 |
| 98 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.99 |
| 99 | Autosomal recessive hypophosphatemic rickets | Enrichment | DMP1 | 1.99 |
| 100 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.99 |
| 101 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 1.99 |
| 102 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 1.99 |
| 103 | Acute basophilic leukemia | Enrichment | MYB | 1.99 |
| 104 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.99 |
| 105 | Cleidocranial dysplasia 2 | Enrichment | CBFB | 1.99 |
| 106 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.99 |
| 107 | Congenital fibrosarcoma | Enrichment | TP53 | 1.99 |
| 108 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.99 |
| 109 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.99 |
| 110 | Sarcoma | Enrichment | TP53 | 1.99 |
| 111 | Angiocentric glioma | Enrichment | MYB | 1.99 |
| 112 | Cervix carcinoma | Enrichment | TP53 | 1.99 |
| 113 | Hodgkin's lymphoma | Enrichment | TP53 | 1.99 |
| 114 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.99 |
| 115 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.99 |
| 116 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A2 | 1.99 |
| 117 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 1.99 |
| 118 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.99 |
| 119 | Isolated atrial standstill | Enrichment | NPPA | 1.99 |
| 120 | Dentinogenesis imperfecta | Enrichment | COL1A2 | 1.99 |
| 121 | Teratoma | Enrichment | CTNNB1 | 1.99 |
| 122 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.99 |
| 123 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.99 |
| 124 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.82 |
| 125 | Jacobsen syndrome | Enrichment | ETS1 | 1.82 |
| 126 | Dystonia, dopa-responsive | Enrichment | TH | 1.82 |
| 127 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.82 |
| 128 | Osteogenic sarcoma | Enrichment | TP53 | 1.82 |
| 129 | Hepatitis c virus | Enrichment | IFNG | 1.82 |
| 130 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.82 |
| 131 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.82 |
| 132 | Estrogen resistance | Enrichment | ESR1 | 1.82 |
| 133 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.82 |
| 134 | Atrial standstill 2 | Enrichment | NPPA | 1.82 |
| 135 | Anus, imperforate | Enrichment | CTNNB1 | 1.82 |
| 136 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.82 |
| 137 | Desmoid tumor | Enrichment | CTNNB1 | 1.82 |
| 138 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.82 |
| 139 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.82 |
| 140 | Anaplastic astrocytoma | Enrichment | TP53 | 1.82 |
| 141 | Squamous cell carcinoma | Enrichment | TP53 | 1.82 |
| 142 | Adenocarcinoma | Enrichment | TP53 | 1.82 |
| 143 | Migraine without aura | Enrichment | ESR1 | 1.82 |
| 144 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.82 |
| 145 | Bone osteosarcoma | Enrichment | TP53 | 1.82 |
| 146 | Adenoid cystic carcinoma | Enrichment | MYB | 1.82 |
| 147 | High bone mass osteogenesis imperfecta | Enrichment | COL1A2 | 1.82 |
| 148 | Melanoma of soft tissue | Enrichment | CREB1 | 1.82 |
| 149 | Enchondromatosis | Enrichment | HIF1A | 1.82 |
| 150 | Systemic lupus erythematosus | Enrichment | ETS1, IL10 | 1.78 |
| 151 | Leukemia, acute myeloid | Enrichment | GATA2, TP53 | 1.76 |
| 152 | Type 2 diabetes mellitus | Enrichment | IL6, TCF7L2 | 1.72 |
| 153 | Kaposi sarcoma | Enrichment | IL6 | 1.69 |
| 154 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A2 | 1.69 |
| 155 | Small cell cancer of the lung | Enrichment | TP53 | 1.69 |
| 156 | Nemaline myopathy 2 | Enrichment | ACTA1 | 1.69 |
| 157 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.69 |
| 158 | Auriculocondylar syndrome 1 | Enrichment | EDN1 | 1.69 |
| 159 | Pilomatrixoma | Enrichment | CTNNB1 | 1.69 |
| 160 | Alazami syndrome | Enrichment | CTNNB1 | 1.69 |
| 161 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.69 |
| 162 | Mantle cell lymphoma | Enrichment | CCND1 | 1.69 |
| 163 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.69 |
| 164 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.69 |
| 165 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.69 |
| 166 | Craniopharyngioma | Enrichment | CTNNB1 | 1.69 |
| 167 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | CBFB | 1.69 |
| 168 | Congenital blue dot cataract | Enrichment | MAF | 1.69 |
| 169 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A2 | 1.69 |
| 170 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.69 |
| 171 | Intermediate nemaline myopathy | Enrichment | ACTA1 | 1.69 |
| 172 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.69 |
| 173 | Glioma | Enrichment | PTEN | 1.69 |
| 174 | Pseudomyogenic hemangioendothelioma | Enrichment | FOSB | 1.69 |
| 175 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.60 |
| 176 | Alzheimer disease 2 | Enrichment | PLAU | 1.60 |
| 177 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.60 |
| 178 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.60 |
| 179 | Congenital myopathy 3 with rigid spine | Enrichment | ACTA1 | 1.60 |
| 180 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.60 |
| 181 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.60 |
| 182 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.60 |
| 183 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.60 |
| 184 | Lymphoma | Enrichment | TP53 | 1.60 |
| 185 | Hemangioma | Enrichment | PTEN | 1.60 |
| 186 | Cleft upper lip | Enrichment | GJA1 | 1.60 |
| 187 | Hemimegalencephaly | Enrichment | PTEN | 1.60 |
| 188 | Severe congenital nemaline myopathy | Enrichment | ACTA1 | 1.60 |
| 189 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.60 |
| 190 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A2 | 1.52 |
| 191 | Osteogenesis imperfecta, type i | Enrichment | COL1A2 | 1.52 |
| 192 | Cowden syndrome 1 | Enrichment | PTEN | 1.52 |
| 193 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.52 |
| 194 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.52 |
| 195 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.52 |
| 196 | Renal tubular dysgenesis | Enrichment | AGT | 1.52 |
| 197 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.52 |
| 198 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.52 |
| 199 | Breast adenocarcinoma | Enrichment | TP53 | 1.52 |
| 200 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.52 |
| 201 | Classic ehlers-danlos syndrome | Enrichment | COL1A2 | 1.52 |
| 202 | Typical nemaline myopathy | Enrichment | ACTA1 | 1.52 |
| 203 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN, TP53 | 1.50 |
| 204 | Myeloma, multiple | Enrichment | CCND1, TP53 | 1.48 |
| 205 | Esophageal cancer | Enrichment | TP53 | 1.45 |
| 206 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1B | 1.45 |
| 207 | Osteogenesis imperfecta, type ii | Enrichment | COL1A2 | 1.45 |
| 208 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.45 |
| 209 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.45 |
| 210 | Essential thrombocythemia | Enrichment | TP53 | 1.45 |
| 211 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.45 |
| 212 | Childhood-onset nemaline myopathy | Enrichment | ACTA1 | 1.45 |
| 213 | Hypophosphatemic rickets | Enrichment | DMP1 | 1.45 |
| 214 | Glioma susceptibility 1 | Enrichment | TP53 | 1.40 |
| 215 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.40 |
| 216 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.40 |
| 217 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.40 |
| 218 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.40 |
| 219 | Cataract - microcornea syndrome | Enrichment | MAF | 1.40 |
| 220 | Rheumatoid arthritis | Enrichment | IL10 | 1.35 |
| 221 | Charge syndrome | Enrichment | EP300 | 1.35 |
| 222 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.35 |
| 223 | Cowden syndrome | Enrichment | PTEN | 1.35 |
| 224 | Cataract 30, multiple types | Enrichment | MAF | 1.30 |
| 225 | Aplastic anemia | Enrichment | IFNG | 1.30 |
| 226 | Nemaline myopathy | Enrichment | ACTA1 | 1.30 |
| 227 | Familial colorectal cancer | Enrichment | TP53 | 1.30 |
| 228 | Primary bone dysplasia | Enrichment | COL1A2 | 1.30 |
| 229 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.26 |
| 230 | Meningioma, familial | Enrichment | PTEN | 1.26 |
| 231 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.26 |
| 232 | Osteochondrodysplasia | Enrichment | COL1A2 | 1.26 |
| 233 | Uterine corpus cancer | Enrichment | PTEN | 1.26 |
| 234 | Meningioma | Enrichment | PTEN | 1.23 |
| 235 | Osteogenesis imperfecta, type iv | Enrichment | COL1A2 | 1.19 |
| 236 | Osteoporosis | Enrichment | COL1A2 | 1.16 |
| 237 | Medulloblastoma | Enrichment | CTNNB1 | 1.16 |
| 238 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.16 |
| 239 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.13 |
| 240 | Congenital myopathy 4a, autosomal dominant | Enrichment | ACTA1 | 1.13 |
| 241 | Osteogenesis imperfecta, type iii | Enrichment | COL1A2 | 1.13 |
| 242 | Rare genetic intellectual disability | Enrichment | EP300 | 1.13 |
| 243 | Gliosarcoma | Enrichment | TP53 | 1.11 |
| 244 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 1.08 |
| 245 | Hypertension, essential | Enrichment | AGT | 1.08 |
| 246 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A | 1.08 |
| 247 | Polycystic liver disease | Enrichment | CTNNB1 | 1.08 |
| 248 | Giant cell glioblastoma | Enrichment | TP53 | 1.08 |
| 249 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.08 |
| 250 | Neuromuscular disease | Enrichment | ACTA1 | 1.06 |
| 251 | Arteriovenous malformations of the brain | Enrichment | IL6 | 1.03 |
| 252 | Behcet syndrome | Enrichment | IL10 | 1.03 |
| 253 | Congenital myopathy | Enrichment | ACTA1 | 1.03 |
| 254 | Ehlers-danlos syndrome | Enrichment | COL1A2 | 1.03 |
| 255 | Congenital nervous system abnormality | Enrichment | CTNNB1, PTEN | 0.99 |
| 256 | Nervous system disease | Enrichment | CTNNB1, PTEN | 0.99 |
| 257 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 0.99 |
| 258 | Endometrial cancer | Enrichment | PTEN | 0.99 |
| 259 | Centronuclear myopathy | Enrichment | ACTA1 | 0.99 |
| 260 | Myocardial infarction | Enrichment | ESR1 | 0.97 |
| 261 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.96 |
| 262 | Brittle bone disorder | Enrichment | COL1A2 | 0.96 |
| 263 | Familial atrial fibrillation | Enrichment | NPPA | 0.94 |
| 264 | Developmental and epileptic encephalopathy 1 | Enrichment | MAF | 0.92 |
| 265 | Hydrops fetalis, nonimmune | Enrichment | ACTA1 | 0.91 |
| 266 | Microcephaly | Enrichment | CTNNB1, EP300 | 0.89 |
| 267 | Severe covid-19 | Enrichment | HLA-A | 0.86 |
| 268 | Non-immune hydrops fetalis | Enrichment | ACTA1 | 0.83 |
| 269 | Cystic fibrosis | Enrichment | TGFB1 | 0.82 |
| 270 | Dystonia | Enrichment | TH | 0.79 |
| 271 | Diamond-blackfan anemia | Enrichment | TP53 | 0.77 |
| 272 | Fetal akinesia deformation sequence 1 | Enrichment | ACTA1 | 0.76 |
| 273 | Myopathy | Enrichment | ACTA1 | 0.73 |
| 274 | Benign epilepsy with centrotemporal spikes | Enrichment | MAF | 0.72 |
| 275 | Distal arthrogryposis | Enrichment | ACTA1 | 0.71 |
| 276 | Centralopathic epilepsy | Enrichment | MAF | 0.71 |
| 277 | West syndrome | Enrichment | MAF | 0.70 |
| 278 | Autism | Enrichment | TCF7L2 | 0.51 |
| 279 | Dilated cardiomyopathy | Enrichment | ACTA1 | 0.47 |
| 280 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.44 |
| 281 | Autism spectrum disorder | Enrichment | PTEN | 0.37 |
| 282 | Complex neurodevelopmental disorder | Enrichment | TCF7L2 | 0.33 |