| 1 | Adrenocortical carcinoma | Enrichment | CDKN2A, CTNNB1, TERT | 5.53 |
| 2 | Colorectal cancer | Enrichment | APC, AXIN2, CCND1, CDH1, CTNNB1, EP300 | 5.15 |
| 3 | Ovarian cancer | Enrichment | APC, AR, AXIN2, CDH1, CDKN2A, CTNNB1 | 4.78 |
| 4 | Inherited cancer-predisposing syndrome | Enrichment | APC, AXIN2, CDH1, CDKN2A, MITF, SMARCA4 | 4.12 |
| 5 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 4.07 |
| 6 | Anus, imperforate | Enrichment | CTNNB1, MED12 | 4.07 |
| 7 | Desmoid tumor | Enrichment | APC, CTNNB1 | 4.07 |
| 8 | Melanoma, cutaneous malignant 1 | Enrichment | CDKN2A, MITF, TERT | 4.02 |
| 9 | Craniopharyngioma | Enrichment | APC, CTNNB1 | 3.77 |
| 10 | Hepatoblastoma | Enrichment | APC, CTNNB1, TERT | 3.73 |
| 11 | Hepatocellular carcinoma | Enrichment | APC, CTNNB1, TERT | 3.67 |
| 12 | Bladder cancer | Enrichment | CDKN2A, CTNNB1, TERT | 3.31 |
| 13 | Waardenburg syndrome, type 2e | Enrichment | MITF, SNAI2 | 3.23 |
| 14 | Melanoma | Enrichment | CDKN2A, MITF | 2.90 |
| 15 | Gastric cancer | Enrichment | APC, CDH1, CDKN2A | 2.80 |
| 16 | Medulloblastoma | Enrichment | APC, CTNNB1 | 2.60 |
| 17 | Rare genetic intellectual disability | Enrichment | CHD8, EP300 | 2.54 |
| 18 | Microcephaly | Enrichment | CTNNB1, EP300, MED12, TCF4 | 2.36 |
| 19 | Ichthyosis hystrix, curth-macklin type | Enrichment | KRT1 | 2.27 |
| 20 | Chiari malformation type i | Enrichment | DKK1 | 2.27 |
| 21 | Axenfeld-rieger syndrome, type 1 | Enrichment | PITX2 | 2.27 |
| 22 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.27 |
| 23 | Androgen insensitivity, partial | Enrichment | AR | 2.27 |
| 24 | Palmoplantar keratoderma, nonepidermolytic | Enrichment | KRT1 | 2.27 |
| 25 | Hypothyroidism, congenital, nongoitrous, 8 | Enrichment | TBL1X | 2.27 |
| 26 | Oligodontia-colorectal cancer syndrome | Enrichment | AXIN2 | 2.27 |
| 27 | Heterochromia iridis | Enrichment | MITF | 2.27 |
| 28 | Ivic syndrome | Enrichment | SALL4 | 2.27 |
| 29 | Tietz albinism-deafness syndrome | Enrichment | MITF | 2.27 |
| 30 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 2.27 |
| 31 | Anterior segment dysgenesis 4 | Enrichment | PITX2 | 2.27 |
| 32 | Sacral agenesis with vertebral anomalies | Enrichment | TBXT | 2.27 |
| 33 | Ring dermoid of cornea | Enrichment | PITX2 | 2.27 |
| 34 | Ectodermal dysplasia 17 with or without limb malformations | Enrichment | LEF1 | 2.27 |
| 35 | Ichthyosis, annular epidermolytic, 2 | Enrichment | KRT1 | 2.27 |
| 36 | Intellectual developmental disorder, autosomal recessive 54 | Enrichment | TNIK | 2.27 |
| 37 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | Enrichment | MITF | 2.27 |
| 38 | Keratosis palmoplantaris striata iii | Enrichment | KRT1 | 2.27 |
| 39 | Lymphatic malformation 12 | Enrichment | MDFIC | 2.27 |
| 40 | Ophthalmoplegia, external, with rib and vertebral anomalies | Enrichment | MYF5 | 2.27 |
| 41 | Spinocerebellar ataxia 42 | Enrichment | CACNA1G | 2.27 |
| 42 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.27 |
| 43 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.27 |
| 44 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.27 |
| 45 | Deafness, autosomal dominant 75 | Enrichment | TRRAP | 2.27 |
| 46 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | Enrichment | CACNA1G | 2.27 |
| 47 | Developmental delay with or without dysmorphic facies and autism | Enrichment | TRRAP | 2.27 |
| 48 | Autosomal recessive dyskeratosis congenita 4 | Enrichment | TERT | 2.27 |
| 49 | Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | Enrichment | NEUROG1 | 2.27 |
| 50 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.27 |
| 51 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.27 |
| 52 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 2.27 |
| 53 | Palmoplantar keratoderma, epidermolytic, 2 | Enrichment | KRT1 | 2.27 |
| 54 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | Enrichment | TBXT | 2.27 |
| 55 | Breast lobular carcinoma | Enrichment | CDH1 | 2.27 |
| 56 | Familial adenomatous polyposis | Enrichment | APC | 2.27 |
| 57 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.27 |
| 58 | Gardner syndrome | Enrichment | APC | 2.27 |
| 59 | Sall4-related disorders | Enrichment | SALL4 | 2.27 |
| 60 | 5q22 microdeletion syndrome | Enrichment | APC | 2.27 |
| 61 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.27 |
| 62 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.27 |
| 63 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, MYC | 2.17 |
| 64 | Breast cancer | Enrichment | APC, CDH1, JUN | 2.12 |
| 65 | Prostate cancer | Enrichment | AR, CDH1 | 1.98 |
| 66 | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | Enrichment | LEF1 | 1.97 |
| 67 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.97 |
| 68 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.97 |
| 69 | Burkitt lymphoma | Enrichment | MYC | 1.97 |
| 70 | Wagner vitreoretinopathy | Enrichment | VCAN | 1.97 |
| 71 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 1.97 |
| 72 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.97 |
| 73 | Hardikar syndrome | Enrichment | MED12 | 1.97 |
| 74 | Opitz-kaveggia syndrome | Enrichment | MED12 | 1.97 |
| 75 | Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | Enrichment | PITX2 | 1.97 |
| 76 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 1.97 |
| 77 | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy | Enrichment | KRT1 | 1.97 |
| 78 | Atrial fibrillation, familial, 1 | Enrichment | PITX2 | 1.97 |
| 79 | Piebald trait | Enrichment | SNAI2 | 1.97 |
| 80 | Duane-radial ray syndrome | Enrichment | SALL4 | 1.97 |
| 81 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.97 |
| 82 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | Enrichment | TERT | 1.97 |
| 83 | Robinow syndrome, autosomal dominant 3 | Enrichment | DVL3 | 1.97 |
| 84 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 1.97 |
| 85 | 46,xy sex reversal 1 | Enrichment | AR | 1.97 |
| 86 | Androgen insensitivity syndrome | Enrichment | AR | 1.97 |
| 87 | Ohdo syndrome, x-linked | Enrichment | MED12 | 1.97 |
| 88 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.97 |
| 89 | Melanoma, cutaneous malignant 8 | Enrichment | MITF | 1.97 |
| 90 | Hypospadias 1, x-linked | Enrichment | AR | 1.97 |
| 91 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.97 |
| 92 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 1.97 |
| 93 | Split hand-foot malformation | Enrichment | LEF1 | 1.97 |
| 94 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.97 |
| 95 | Papillary renal cell carcinoma | Enrichment | MITF | 1.97 |
| 96 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.97 |
| 97 | Melanoma, cutaneous malignant 9 | Enrichment | TERT | 1.97 |
| 98 | Otosclerosis 12 | Enrichment | SMARCA4 | 1.97 |
| 99 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 1.97 |
| 100 | Periampullary adenoma | Enrichment | APC | 1.97 |
| 101 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.97 |
| 102 | 14q11.2 microduplication syndrome | Enrichment | CHD8 | 1.97 |
| 103 | Idiopathic interstitial pneumonia | Enrichment | TERT | 1.97 |
| 104 | Cholestasis-pigmentary retinopathy-cleft palate syndrome | Enrichment | MED12 | 1.97 |
| 105 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.97 |
| 106 | Metaphyseal anadysplasia | Enrichment | MMP9 | 1.97 |
| 107 | Axenfeld-rieger syndrome | Enrichment | PITX2 | 1.97 |
| 108 | Wagner disease | Enrichment | VCAN | 1.97 |
| 109 | Med12-related disorders | Enrichment | MED12 | 1.97 |
| 110 | Blepharophimosis - intellectual disability syndrome, mkb type | Enrichment | MED12 | 1.97 |
| 111 | Posterior hypospadias | Enrichment | AR | 1.97 |
| 112 | Teratoma | Enrichment | CTNNB1 | 1.97 |
| 113 | Primary mediastinal large b-cell lymphoma | Enrichment | XPO1 | 1.97 |
| 114 | Palmoplantar keratoderma, epidermolytic, 1 | Enrichment | KRT1 | 1.79 |
| 115 | Waardenburg syndrome, type 2a | Enrichment | MITF | 1.79 |
| 116 | Intellectual developmental disorder, x-linked, syndromic, lujan-fryns type | Enrichment | MED12 | 1.79 |
| 117 | Pierpont syndrome | Enrichment | TBL1XR1 | 1.79 |
| 118 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.79 |
| 119 | Osteoporosis, juvenile | Enrichment | DKK1 | 1.79 |
| 120 | Ichthyosis with confetti | Enrichment | KRT1 | 1.79 |
| 121 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.79 |
| 122 | Ichthyosis, annular epidermolytic, 1 | Enrichment | KRT1 | 1.79 |
| 123 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.79 |
| 124 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.79 |
| 125 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.79 |
| 126 | Keratosis palmoplantaris striata | Enrichment | KRT1 | 1.79 |
| 127 | Interstitial lung disease | Enrichment | TERT | 1.79 |
| 128 | Macrocytic anemia | Enrichment | TERT | 1.79 |
| 129 | Duane retraction syndrome | Enrichment | SALL4 | 1.79 |
| 130 | Intellectual developmental disorder, autosomal dominant 41 | Enrichment | TBL1XR1 | 1.79 |
| 131 | Colon adenocarcinoma | Enrichment | APC | 1.79 |
| 132 | Annular epidermolytic ichthyosis | Enrichment | KRT1 | 1.79 |
| 133 | Apc-associated polyposis conditions | Enrichment | APC | 1.79 |
| 134 | Autosomal dominant epidermolytic ichthyosis | Enrichment | KRT1 | 1.79 |
| 135 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.67 |
| 136 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL3 | 1.67 |
| 137 | Chordoma | Enrichment | TBXT | 1.67 |
| 138 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.67 |
| 139 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 1.67 |
| 140 | Pilomatrixoma | Enrichment | CTNNB1 | 1.67 |
| 141 | Alazami syndrome | Enrichment | CTNNB1 | 1.67 |
| 142 | Mantle cell lymphoma | Enrichment | CCND1 | 1.67 |
| 143 | Intellectual developmental disorder with autism and macrocephaly | Enrichment | CHD8 | 1.67 |
| 144 | Lung sarcomatoid carcinoma | Enrichment | TERT | 1.67 |
| 145 | Epidermolytic hyperkeratosis | Enrichment | KRT1 | 1.67 |
| 146 | Autosomal dominant robinow syndrome | Enrichment | DVL3 | 1.67 |
| 147 | Clear cell papillary renal cell carcinoma | Enrichment | MITF | 1.67 |
| 148 | Hereditary breast carcinoma | Enrichment | APC, CDH1 | 1.63 |
| 149 | Epidermolytic hyperkeratosis 1 | Enrichment | KRT1 | 1.57 |
| 150 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.57 |
| 151 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.57 |
| 152 | Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | Enrichment | SALL4 | 1.57 |
| 153 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL3 | 1.57 |
| 154 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.57 |
| 155 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.57 |
| 156 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.57 |
| 157 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL3 | 1.57 |
| 158 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.57 |
| 159 | Congenital ptosis | Enrichment | CHD8 | 1.57 |
| 160 | Idiopathic aplastic anemia | Enrichment | TERT | 1.57 |
| 161 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MITF, TRRAP | 1.50 |
| 162 | Dyskeratosis congenita, autosomal dominant 1 | Enrichment | TERT | 1.50 |
| 163 | Li-fraumeni syndrome | Enrichment | CDKN2A | 1.50 |
| 164 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.50 |
| 165 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.50 |
| 166 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.50 |
| 167 | Split-hand/foot malformation 1 | Enrichment | LEF1 | 1.50 |
| 168 | Waardenburg syndrome, type 4a | Enrichment | MITF | 1.50 |
| 169 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.50 |
| 170 | Autosomal recessive robinow syndrome | Enrichment | DVL3 | 1.50 |
| 171 | Pulmonary fibrosis | Enrichment | TERT | 1.50 |
| 172 | Hoyeraal-hreidarsson syndrome | Enrichment | TERT | 1.50 |
| 173 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.50 |
| 174 | Waardenburg syndrome | Enrichment | MITF | 1.50 |
| 175 | Kidney clear cell sarcoma | Enrichment | TERT | 1.50 |
| 176 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.50 |
| 177 | Waardenburg syndrome, type 1 | Enrichment | MITF | 1.43 |
| 178 | Dyskeratosis congenita, autosomal dominant 2 | Enrichment | TERT | 1.43 |
| 179 | Gallbladder cancer | Enrichment | CTNNB1 | 1.43 |
| 180 | Overgrowth syndrome | Enrichment | CHD8 | 1.43 |
| 181 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.43 |
| 182 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.37 |
| 183 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.37 |
| 184 | Neuroblastoma | Enrichment | SMARCA4 | 1.37 |
| 185 | Isolated split hand-split foot malformation | Enrichment | BTRC | 1.37 |
| 186 | Difference of sex development | Enrichment | AR | 1.37 |
| 187 | Tooth agenesis, selective, 1 | Enrichment | AXIN2 | 1.32 |
| 188 | Charge syndrome | Enrichment | EP300 | 1.32 |
| 189 | Mitochondrial myopathy, infantile, transient | Enrichment | MT-CO2 | 1.32 |
| 190 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.32 |
| 191 | Ventricular septal defect | Enrichment | SMARCA4 | 1.32 |
| 192 | Colonic benign neoplasm | Enrichment | APC | 1.32 |
| 193 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.28 |
| 194 | Peters-plus syndrome | Enrichment | PITX2 | 1.28 |
| 195 | Aplastic anemia | Enrichment | TERT | 1.28 |
| 196 | Stickler syndrome | Enrichment | VCAN | 1.28 |
| 197 | Familial colorectal cancer | Enrichment | MT-CO2 | 1.28 |
| 198 | Mitochondrial myopathy with reversible cytochrome c oxidase deficiency | Enrichment | MT-CO2 | 1.28 |
| 199 | Autism | Enrichment | CHD8, TCF7L2 | 1.24 |
| 200 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.24 |
| 201 | Atrial heart septal defect | Enrichment | SMARCA4 | 1.24 |
| 202 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.24 |
| 203 | Interatrial communication | Enrichment | SMARCA4 | 1.24 |
| 204 | Epicanthus | Enrichment | TCF4 | 1.20 |
| 205 | Meningioma | Enrichment | TERT | 1.20 |
| 206 | Lip and oral cavity carcinoma | Enrichment | CDKN2A | 1.20 |
| 207 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.17 |
| 208 | Neural tube defects | Enrichment | TBXT | 1.17 |
| 209 | Acute promyelocytic leukemia | Enrichment | TBL1XR1 | 1.17 |
| 210 | Stereotypic movement disorder | Enrichment | TCF4 | 1.17 |
| 211 | Cox deficiency, benign infantile mitochondrial myopathy | Enrichment | MT-CO2 | 1.14 |
| 212 | Cleft lip/palate | Enrichment | CDH1 | 1.14 |
| 213 | Coffin-siris syndrome 1 | Enrichment | SMARCA4 | 1.11 |
| 214 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.11 |
| 215 | Corpus callosum, agenesis of | Enrichment | MED12 | 1.11 |
| 216 | Anterior segment dysgenesis | Enrichment | PITX2 | 1.11 |
| 217 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.11 |
| 218 | Isolated corpus callosum agenesis | Enrichment | MED12 | 1.11 |
| 219 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | MED12 | 1.11 |
| 220 | Hydrocephalus, congenital, 1 | Enrichment | MED12 | 1.08 |
| 221 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.06 |
| 222 | Interstitial lung disease 2 | Enrichment | TERT | 1.06 |
| 223 | Cardiomyopathy, dilated, 1e | Enrichment | MED12 | 1.06 |
| 224 | Polycystic liver disease | Enrichment | CTNNB1 | 1.06 |
| 225 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.06 |
| 226 | Diffuse large b-cell lymphoma | Enrichment | TBL1XR1 | 1.01 |
| 227 | Dyskeratosis congenita | Enrichment | TERT | 1.01 |
| 228 | Endometrial cancer | Enrichment | CDH1 | 0.97 |
| 229 | Mitochondrial complex iv deficiency, nuclear type 1 | Enrichment | MT-CO2 | 0.95 |
| 230 | Tooth agenesis | Enrichment | AXIN2 | 0.95 |
| 231 | Autism spectrum disorder | Enrichment | CHD8, TCF4 | 0.93 |
| 232 | Ear malformation | Enrichment | MITF | 0.92 |
| 233 | Familial atrial fibrillation | Enrichment | PITX2 | 0.92 |
| 234 | Scoliosis | Enrichment | MYF5 | 0.92 |
| 235 | Pancreatic cancer | Enrichment | CDKN2A | 0.90 |
| 236 | Tetralogy of fallot | Enrichment | MT-CO2 | 0.88 |
| 237 | Mitochondrial complex v deficiency, mitochondrial type 1 | Enrichment | MT-CO2 | 0.88 |
| 238 | Neuropathy, ataxia, and retinitis pigmentosa | Enrichment | MT-CO2 | 0.88 |
| 239 | Striatonigral degeneration, infantile, mitochondrial | Enrichment | MT-CO2 | 0.88 |
| 240 | Camptodactyly of fingers | Enrichment | MT-CO2 | 0.88 |
| 241 | Hirschsprung disease 1 | Enrichment | AXIN2 | 0.84 |
| 242 | Differentiated thyroid carcinoma | Enrichment | TERT | 0.84 |
| 243 | Isolated joubert syndrome | Enrichment | CBY1 | 0.83 |
| 244 | Nephronophthisis | Enrichment | INCENP | 0.79 |
| 245 | Male infertility | Enrichment | AR | 0.78 |
| 246 | Non-syndromic x-linked intellectual disability | Enrichment | MED12 | 0.75 |
| 247 | Non-syndromic genetic deafness | Enrichment | MITF | 0.75 |
| 248 | Leber hereditary optic neuropathy, modifier of | Enrichment | MT-CO2 | 0.74 |
| 249 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Enrichment | MT-CO2 | 0.73 |
| 250 | Cerebral palsy | Enrichment | SMARCA4 | 0.72 |
| 251 | Leukemia, acute myeloid | Enrichment | TERT | 0.71 |
| 252 | Type 2 diabetes mellitus | Enrichment | TCF7L2 | 0.69 |
| 253 | Nonsyndromic hearing loss | Enrichment | MITF | 0.69 |
| 254 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MED12 | 0.67 |
| 255 | Joubert syndrome 1 | Enrichment | CBY1 | 0.63 |
| 256 | Autosomal dominant non-syndromic intellectual disability | Enrichment | TCF4 | 0.63 |
| 257 | Hypertelorism | Enrichment | MT-CO2 | 0.61 |
| 258 | Spastic ataxia | Enrichment | CACNA1G | 0.60 |
| 259 | Hereditary breast ovarian cancer syndrome | Enrichment | MITF | 0.59 |
| 260 | Myeloma, multiple | Enrichment | CCND1 | 0.58 |
| 261 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR | 0.58 |
| 262 | Autosomal recessive non-syndromic intellectual disability | Enrichment | TNIK | 0.57 |
| 263 | Leigh syndrome, nuclear | Enrichment | MT-CO2 | 0.51 |
| 264 | Leigh disease | Enrichment | MT-CO2 | 0.47 |
| 265 | Rare genetic deafness | Enrichment | MITF | 0.46 |
| 266 | Mitochondrial disease | Enrichment | MT-CO2 | 0.43 |
| 267 | Leber plus disease | Enrichment | MT-CO2 | 0.40 |
| 268 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.36 |
| 269 | Nervous system disease | Enrichment | CTNNB1 | 0.36 |
| 270 | Complex neurodevelopmental disorder | Enrichment | TCF7L2 | 0.31 |
| 271 | Retinitis pigmentosa | Enrichment | MT-CO2 | 0.16 |
| 272 | Hereditary retinal dystrophy | Enrichment | VCAN | 0.10 |
| 273 | Fundus dystrophy | Enrichment | VCAN | 0.10 |