| 1 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, BCL6, MYC | 6.41 |
| 2 | Adams-oliver syndrome | Enrichment | DLL4, NOTCH1, RBPJ | 4.88 |
| 3 | Colorectal cancer | Enrichment | AKT1, CCND1, CTNNB1, EP300, FBXW7, PIK3R1 | 4.37 |
| 4 | Intravascular large b-cell lymphoma | Enrichment | BCL2, BCL6 | 4.27 |
| 5 | Autism spectrum disorder | Enrichment | CNTN6, CSNK2A1, CSNK2B, DYRK1A, EHMT1, SPEN | 3.82 |
| 6 | Alzheimer disease 4 | Enrichment | PSEN1, PSEN2 | 3.79 |
| 7 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.79 |
| 8 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.79 |
| 9 | Keratoacanthoma | Enrichment | NOTCH1, NOTCH2 | 3.79 |
| 10 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3R2 | 3.50 |
| 11 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.50 |
| 12 | Enophthalmos | Enrichment | CSNK2B, DYRK1A | 3.50 |
| 13 | Dowling-degos disease | Enrichment | POFUT1, PSENEN | 3.50 |
| 14 | Follicular lymphoma | Enrichment | BCL2, BCL6 | 3.28 |
| 15 | Hemimegalencephaly | Enrichment | AKT3, MTOR | 3.28 |
| 16 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 2.96 |
| 17 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 2.96 |
| 18 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1, PSEN2 | 2.96 |
| 19 | Polymicrogyria | Enrichment | AKT3, EHMT1 | 2.63 |
| 20 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.63 |
| 21 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MFAP5, NOTCH1, SMAD3 | 2.38 |
| 22 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1, SMAD3 | 2.34 |
| 23 | Rare genetic intellectual disability | Enrichment | EP300, MTOR | 2.28 |
| 24 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC, CSNK2B, DLL1 | 2.23 |
| 25 | Proteus syndrome | Enrichment | AKT1 | 2.13 |
| 26 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.13 |
| 27 | Incontinentia pigmenti | Enrichment | IKBKG | 2.13 |
| 28 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.13 |
| 29 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 2.13 |
| 30 | Alagille syndrome 2 | Enrichment | NOTCH2 | 2.13 |
| 31 | Acne inversa, familial, 1 | Enrichment | NCSTN | 2.13 |
| 32 | Lateral meningocele syndrome | Enrichment | NOTCH3 | 2.13 |
| 33 | Congenital myopathy 12 | Enrichment | CNTN1 | 2.13 |
| 34 | Charcot-marie-tooth disease, dominant intermediate b | Enrichment | DNM2 | 2.13 |
| 35 | Fetal encasement syndrome | Enrichment | CHUK | 2.13 |
| 36 | Intellectual developmental disorder, autosomal dominant 7 | Enrichment | DYRK1A | 2.13 |
| 37 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.13 |
| 38 | Immunodeficiency 15b | Enrichment | IKBKB | 2.13 |
| 39 | Adams-oliver syndrome 6 | Enrichment | DLL4 | 2.13 |
| 40 | Immunodeficiency 15a | Enrichment | IKBKB | 2.13 |
| 41 | Short syndrome | Enrichment | PIK3R1 | 2.13 |
| 42 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.13 |
| 43 | Intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type | Enrichment | NKAP | 2.13 |
| 44 | Mirror movements 4 | Enrichment | NTN1 | 2.13 |
| 45 | Aortic aneurysm, familial thoracic 9 | Enrichment | MFAP5 | 2.13 |
| 46 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 2.13 |
| 47 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.13 |
| 48 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.13 |
| 49 | Lethal congenital contracture syndrome 5 | Enrichment | DNM2 | 2.13 |
| 50 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.13 |
| 51 | Dowling-degos disease 2 | Enrichment | POFUT1 | 2.13 |
| 52 | Cowden syndrome 6 | Enrichment | AKT1 | 2.13 |
| 53 | Cleft palate, psychomotor retardation, and distinctive facial features | Enrichment | KDM1A | 2.13 |
| 54 | Myofibromatosis, infantile, 2 | Enrichment | NOTCH3 | 2.13 |
| 55 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.13 |
| 56 | Radio-tartaglia syndrome | Enrichment | SPEN | 2.13 |
| 57 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.13 |
| 58 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.13 |
| 59 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 2.13 |
| 60 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.13 |
| 61 | Muscular dystrophy, limb-girdle, autosomal recessive 27 | Enrichment | JAG2 | 2.13 |
| 62 | Bryant-li-bhoj neurodevelopmental syndrome 1 | Enrichment | H3-3A | 2.13 |
| 63 | Okur-chung neurodevelopmental syndrome | Enrichment | CSNK2A1 | 2.13 |
| 64 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.13 |
| 65 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.13 |
| 66 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.13 |
| 67 | Developmental delay, hypotonia, and impaired language | Enrichment | FBXW7 | 2.13 |
| 68 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.13 |
| 69 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | Enrichment | KDM1A | 2.13 |
| 70 | Congenital insensitivity to pain with severe intellectual disability | Enrichment | CLTCL1 | 2.13 |
| 71 | Autosomal dominant charcot-marie-tooth disease type 2m | Enrichment | DNM2 | 2.13 |
| 72 | Craniodigital syndrome and intellectual disability syndrome | Enrichment | CSNK2B | 2.13 |
| 73 | Capillary hemangioma | Enrichment | AKT3 | 2.13 |
| 74 | Transient cerebral ischemia | Enrichment | NOTCH3 | 2.13 |
| 75 | Acth-independent macronodular adrenal hyperplasia 3 | Enrichment | KDM1A | 2.13 |
| 76 | Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 | Enrichment | NOTCH3 | 2.13 |
| 77 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.13 |
| 78 | Pash syndrome | Enrichment | NCSTN | 2.13 |
| 79 | Huntington's disease-like | Enrichment | PSEN2 | 2.13 |
| 80 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.13 |
| 81 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.13 |
| 82 | Heart, malformation of | Enrichment | CDK8, JAG1 | 2.12 |
| 83 | Myeloma, multiple | Enrichment | CCND1, NCOR2, PIK3R2 | 2.09 |
| 84 | Ehlers-danlos syndrome | Enrichment | SMAD3, THBS2 | 2.07 |
| 85 | Hepatoblastoma | Enrichment | CTNNB1, JAG1 | 1.99 |
| 86 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC, PICALM | 1.91 |
| 87 | Burkitt lymphoma | Enrichment | MYC | 1.83 |
| 88 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 1.83 |
| 89 | Ebstein anomaly | Enrichment | CDK8 | 1.83 |
| 90 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.83 |
| 91 | Alzheimer disease 3 | Enrichment | PSEN1 | 1.83 |
| 92 | Immunodeficiency 33 | Enrichment | IKBKG | 1.83 |
| 93 | Pick disease of brain | Enrichment | PSEN1 | 1.83 |
| 94 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.83 |
| 95 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.83 |
| 96 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.83 |
| 97 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 1.83 |
| 98 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.83 |
| 99 | Adams-oliver syndrome 3 | Enrichment | RBPJ | 1.83 |
| 100 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 1.83 |
| 101 | Poirier-bienvenu neurodevelopmental syndrome | Enrichment | CSNK2B | 1.83 |
| 102 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 1.83 |
| 103 | Cebalid syndrome | Enrichment | MTOR | 1.83 |
| 104 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.83 |
| 105 | Infantile myofibromatosis | Enrichment | NOTCH3 | 1.83 |
| 106 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.83 |
| 107 | Left ventricular noncompaction 7 | Enrichment | MIB1 | 1.83 |
| 108 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.83 |
| 109 | Kleefstra syndrome | Enrichment | EHMT1 | 1.83 |
| 110 | Central precocious puberty | Enrichment | DLK1 | 1.83 |
| 111 | Lipodystrophy, familial partial, type 1 | Enrichment | NOTCH3 | 1.83 |
| 112 | Depressive disorder | Enrichment | NOTCH3 | 1.83 |
| 113 | Inflammatory skin and bowel disease, neonatal, 1 | Enrichment | ADAM17 | 1.83 |
| 114 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 1.83 |
| 115 | Immune system disease | Enrichment | PIK3CD | 1.83 |
| 116 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.83 |
| 117 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.83 |
| 118 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 1.83 |
| 119 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.83 |
| 120 | Intellectual developmental disorder with hypotonia and behavioral abnormalities | Enrichment | CDK8 | 1.83 |
| 121 | Bryant-li-bhoj neurodevelopmental syndrome 2 | Enrichment | H3-3A | 1.83 |
| 122 | Kleefstra syndrome due to a point mutation | Enrichment | EHMT1 | 1.83 |
| 123 | Teratoma | Enrichment | CTNNB1 | 1.83 |
| 124 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 1.83 |
| 125 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.83 |
| 126 | Tetralogy of fallot | Enrichment | JAG1, NOTCH1 | 1.81 |
| 127 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.66 |
| 128 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.66 |
| 129 | Prognathism, mandibular | Enrichment | CSNK2B | 1.66 |
| 130 | Alagille syndrome 1 | Enrichment | JAG1 | 1.66 |
| 131 | Myopathy, centronuclear, x-linked | Enrichment | DNM2 | 1.66 |
| 132 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3R1 | 1.66 |
| 133 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.66 |
| 134 | Anus, imperforate | Enrichment | CTNNB1 | 1.66 |
| 135 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.66 |
| 136 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 1.66 |
| 137 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 1.66 |
| 138 | Ehlers-danlos syndrome, classic-like, 3 | Enrichment | THBS2 | 1.66 |
| 139 | Desmoid tumor | Enrichment | CTNNB1 | 1.66 |
| 140 | Precocious puberty, central, 2 | Enrichment | DLK1 | 1.66 |
| 141 | Leukodystrophy and acquired microcephaly with or without dystonia | Enrichment | DLL3 | 1.66 |
| 142 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.66 |
| 143 | Migraine without aura | Enrichment | NOTCH3 | 1.66 |
| 144 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | KDM1A | 1.66 |
| 145 | Neonatal inflammatory skin and bowel disease | Enrichment | ADAM17 | 1.66 |
| 146 | Enchondromatosis | Enrichment | HIF1A | 1.66 |
| 147 | Connective tissue disease | Enrichment | NOTCH1, SMAD3 | 1.64 |
| 148 | Mirror movements 1 | Enrichment | NTN1 | 1.54 |
| 149 | Kagami-ogata syndrome | Enrichment | DLK1 | 1.54 |
| 150 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.54 |
| 151 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.54 |
| 152 | Pilomatrixoma | Enrichment | CTNNB1 | 1.54 |
| 153 | Temple syndrome | Enrichment | DLK1 | 1.54 |
| 154 | Alazami syndrome | Enrichment | CTNNB1 | 1.54 |
| 155 | Mantle cell lymphoma | Enrichment | CCND1 | 1.54 |
| 156 | Syndactyly | Enrichment | CSNK2B | 1.54 |
| 157 | Cerebrovascular disease | Enrichment | NOTCH3 | 1.54 |
| 158 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 1.54 |
| 159 | Aortic aneurysm | Enrichment | SMAD3 | 1.54 |
| 160 | Craniopharyngioma | Enrichment | CTNNB1 | 1.54 |
| 161 | Genetic central precocious puberty in male | Enrichment | DLK1 | 1.54 |
| 162 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.54 |
| 163 | Middle aortic syndrome | Enrichment | JAG1 | 1.54 |
| 164 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.44 |
| 165 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | NOTCH3 | 1.44 |
| 166 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.44 |
| 167 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.44 |
| 168 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.44 |
| 169 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 1.44 |
| 170 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.44 |
| 171 | Pervasive developmental disorder | Enrichment | FBXW7 | 1.44 |
| 172 | Aplasia cutis congenita | Enrichment | DLL4 | 1.44 |
| 173 | Vascular dementia | Enrichment | NOTCH3 | 1.44 |
| 174 | Dementia | Enrichment | PSEN1 | 1.44 |
| 175 | Rare pervasive developmental disorder | Enrichment | FBXW7 | 1.44 |
| 176 | Type 2 diabetes mellitus | Enrichment | AKT2, RBPJ | 1.42 |
| 177 | Myopathy, centronuclear, 1 | Enrichment | DNM2 | 1.36 |
| 178 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.36 |
| 179 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.36 |
| 180 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 1.36 |
| 181 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.36 |
| 182 | Kleefstra syndrome 1 | Enrichment | EHMT1 | 1.36 |
| 183 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.36 |
| 184 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 1.36 |
| 185 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.36 |
| 186 | Breast adenocarcinoma | Enrichment | AKT1 | 1.36 |
| 187 | Spondylocostal dysostosis, autosomal recessive | Enrichment | DLL3 | 1.36 |
| 188 | Intervertebral disc disease | Enrichment | THBS2 | 1.30 |
| 189 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.30 |
| 190 | Noonan syndrome 3 | Enrichment | CLTC | 1.30 |
| 191 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.30 |
| 192 | Semantic dementia | Enrichment | PSEN1 | 1.30 |
| 193 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 1.30 |
| 194 | Gallbladder cancer | Enrichment | CTNNB1 | 1.30 |
| 195 | Megacolon | Enrichment | AKT3 | 1.30 |
| 196 | Glioma susceptibility 1 | Enrichment | H3-3A | 1.24 |
| 197 | Spondylocostal dysostosis 1, autosomal recessive | Enrichment | DLL3 | 1.24 |
| 198 | Lennox-gastaut syndrome | Enrichment | DNM1 | 1.24 |
| 199 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.24 |
| 200 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.24 |
| 201 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1, PSEN2 | 1.24 |
| 202 | Microcephaly | Enrichment | CTNNB1, DYRK1A, EP300 | 1.20 |
| 203 | Complex neurodevelopmental disorder | Enrichment | CDK8, CSNK2A1, DYRK1A | 1.20 |
| 204 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC, DNM1 | 1.19 |
| 205 | Charge syndrome | Enrichment | EP300 | 1.19 |
| 206 | Coronary heart disease 5 | Enrichment | IKBKG | 1.19 |
| 207 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.19 |
| 208 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.19 |
| 209 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 1.19 |
| 210 | Cowden syndrome | Enrichment | AKT1 | 1.19 |
| 211 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.19 |
| 212 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 1.19 |
| 213 | Schizophrenia | Enrichment | CNTN6, EHMT1 | 1.15 |
| 214 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.15 |
| 215 | Stroke, ischemic | Enrichment | NOTCH3 | 1.15 |
| 216 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.15 |
| 217 | Migraine with or without aura 1 | Enrichment | NOTCH3 | 1.11 |
| 218 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 1.11 |
| 219 | Meningioma | Enrichment | AKT1 | 1.07 |
| 220 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.04 |
| 221 | Diaphragmatic hernia, congenital | Enrichment | CDK8 | 1.04 |
| 222 | Alzheimer's disease | Enrichment | PSEN1 | 1.04 |
| 223 | Chromosome 1p36 deletion syndrome | Enrichment | SPEN | 1.04 |
| 224 | Stereotypic movement disorder | Enrichment | DNM1 | 1.04 |
| 225 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.04 |
| 226 | Medulloblastoma | Enrichment | CTNNB1 | 1.01 |
| 227 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 0.98 |
| 228 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 0.98 |
| 229 | Septopreoptic holoprosencephaly | Enrichment | DLL1 | 0.98 |
| 230 | Male infertility with spermatogenesis disorder | Enrichment | DYRK1A | 0.98 |
| 231 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1 | 0.98 |
| 232 | Hydrocephalus, congenital, 1 | Enrichment | CDK8 | 0.95 |
| 233 | Gliosarcoma | Enrichment | TACC3 | 0.95 |
| 234 | Microform holoprosencephaly | Enrichment | DLL1 | 0.95 |
| 235 | Lobar holoprosencephaly | Enrichment | DLL1 | 0.95 |
| 236 | Alzheimer disease, familial, 1 | Enrichment | PSEN1 | 0.93 |
| 237 | Polycystic liver disease | Enrichment | CTNNB1 | 0.93 |
| 238 | Giant cell glioblastoma | Enrichment | TACC3 | 0.93 |
| 239 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.93 |
| 240 | Alobar holoprosencephaly | Enrichment | DLL1 | 0.93 |
| 241 | Semilobar holoprosencephaly | Enrichment | DLL1 | 0.90 |
| 242 | Centronuclear myopathy | Enrichment | DNM2 | 0.84 |
| 243 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 0.82 |
| 244 | Microphthalmia | Enrichment | DYRK1A | 0.82 |
| 245 | Skin disease | Enrichment | NCSTN | 0.82 |
| 246 | Malaria | Enrichment | IKBKG | 0.81 |
| 247 | Ovarian cancer | Enrichment | AKT1, CTNNB1 | 0.77 |
| 248 | Auditory neuropathy | Enrichment | NOTCH3 | 0.76 |
| 249 | Congenital nervous system abnormality | Enrichment | CTNNB1, PSEN1 | 0.74 |
| 250 | Nervous system disease | Enrichment | CTNNB1, PSEN1 | 0.74 |
| 251 | Bladder cancer | Enrichment | CTNNB1 | 0.71 |
| 252 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.66 |
| 253 | Left ventricular noncompaction | Enrichment | MIB1 | 0.64 |
| 254 | Leukemia, acute myeloid | Enrichment | PICALM | 0.59 |
| 255 | Myopathy | Enrichment | DNM2 | 0.59 |
| 256 | Charcot-marie-tooth disease | Enrichment | DNM2 | 0.58 |
| 257 | Nephrotic syndrome | Enrichment | RUNX2 | 0.56 |
| 258 | West syndrome | Enrichment | DNM1 | 0.56 |
| 259 | Hereditary breast carcinoma | Enrichment | AKT1 | 0.56 |
| 260 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PSEN1 | 0.46 |
| 261 | Primary ovarian insufficiency | Enrichment | NOTCH2 | 0.45 |
| 262 | Autism | Enrichment | CNTN6 | 0.38 |
| 263 | Breast cancer | Enrichment | AKT1 | 0.37 |
| 264 | Hereditary retinal dystrophy | Enrichment | JAG1 | 0.05 |
| 265 | Fundus dystrophy | Enrichment | JAG1 | 0.05 |