| 1 | Focal segmental glomerulosclerosis | Enrichment | EYA1, NPHS1, NPHS2, PAX2, WT1 | 7.71 |
| 2 | Cakut | Enrichment | FAT4, HNF1B, PAX2, SALL1, TBX18 | 6.48 |
| 3 | Ovarian cancer | Enrichment | AXIN2, CTNNB1, HNF1A, HNF1B, KIT, WT1 | 5.32 |
| 4 | Genetic steroid-resistant nephrotic syndrome | Enrichment | NPHS1, NPHS2, PAX2, WT1 | 4.87 |
| 5 | Congenital anomalies of kidney and urinary tract 2 | Enrichment | HNF1B, TBX18 | 4.73 |
| 6 | Branchiootic syndrome | Enrichment | EYA1, SIX1 | 4.73 |
| 7 | Branchiootic syndrome 1 | Enrichment | EYA1, SIX1 | 4.73 |
| 8 | Hyperinsulinism due to hnf1a deficiency | Enrichment | HNF1A, HNF4A | 4.73 |
| 9 | Renal hypoplasia, bilateral | Enrichment | PAX2, PBX1 | 4.73 |
| 10 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | HNF1B, WNT4 | 4.25 |
| 11 | Chromosome 17q12 deletion syndrome | Enrichment | HNF1B, LHX1 | 4.25 |
| 12 | Chromophobe renal cell carcinoma | Enrichment | HNF1A, HNF1B | 4.25 |
| 13 | Maturity-onset diabetes of the young | Enrichment | HNF1A, HNF1B, HNF4A | 4.07 |
| 14 | Hepatoblastoma | Enrichment | CTNNB1, JAG1, REN | 4.01 |
| 15 | Maturity-onset diabetes of the young, type 3 | Enrichment | HNF1A, HNF4A | 3.95 |
| 16 | Tetralogy of fallot | Enrichment | JAG1, KDR, NOTCH1 | 3.72 |
| 17 | Branchiootorenal syndrome 1 | Enrichment | EYA1, SIX1 | 3.56 |
| 18 | Autosomal dominant secondary polycythemia | Enrichment | EGLN1, EPO | 3.56 |
| 19 | Branchiootorenal syndrome | Enrichment | EYA1, SIX1 | 3.41 |
| 20 | Nephrotic syndrome, type 1 | Enrichment | NPHS1, NPHS2 | 3.18 |
| 21 | Type 2 diabetes mellitus | Enrichment | HNF1A, HNF1B, HNF4A | 3.10 |
| 22 | Nephrotic syndrome | Enrichment | NPHS1, NPHS2, PAX2 | 3.07 |
| 23 | Microphthalmia/coloboma 12 | Enrichment | PAX2, RARB | 2.85 |
| 24 | Coloboma of macula | Enrichment | PAX2, RARB | 2.73 |
| 25 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1A, HNF1B | 2.73 |
| 26 | Kidney disease | Enrichment | NPHS1, WT1 | 2.73 |
| 27 | Polycystic liver disease | Enrichment | CTNNB1, HNF4A | 2.62 |
| 28 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, HNF4A | 2.62 |
| 29 | Microphthalmia | Enrichment | RARB, VSX2 | 2.39 |
| 30 | Hepatic adenomas, familial | Enrichment | HNF1A | 2.36 |
| 31 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.36 |
| 32 | Calcification of joints and arteries | Enrichment | NT5E | 2.36 |
| 33 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.36 |
| 34 | Oligodontia-colorectal cancer syndrome | Enrichment | AXIN2 | 2.36 |
| 35 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.36 |
| 36 | Mastocytosis, cutaneous | Enrichment | KIT | 2.36 |
| 37 | Scalp-ear-nipple syndrome | Enrichment | KCTD1 | 2.36 |
| 38 | Townes-brocks syndrome 1 | Enrichment | SALL1 | 2.36 |
| 39 | Otofaciocervical syndrome 1 | Enrichment | EYA1 | 2.36 |
| 40 | Prostate cancer, hereditary, 11 | Enrichment | HNF1B | 2.36 |
| 41 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.36 |
| 42 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Enrichment | HNF4A | 2.36 |
| 43 | Deafness, autosomal dominant 56 | Enrichment | TNC | 2.36 |
| 44 | Microvascular complications of diabetes 2 | Enrichment | EPO | 2.36 |
| 45 | Scapuloperoneal syndrome, neurogenic, kaeser type | Enrichment | DES | 2.36 |
| 46 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.36 |
| 47 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Enrichment | PBX1 | 2.36 |
| 48 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.36 |
| 49 | Mirror movements 4 | Enrichment | NTN1 | 2.36 |
| 50 | Hemoglobin, high altitude adaptation | Enrichment | EGLN1 | 2.36 |
| 51 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | Enrichment | RSPO1 | 2.36 |
| 52 | Orofacial cleft 11 | Enrichment | BMP4 | 2.36 |
| 53 | Deafness, autosomal dominant 23 | Enrichment | SIX1 | 2.36 |
| 54 | Microphthalmia, isolated 2 | Enrichment | VSX2 | 2.36 |
| 55 | Microphthalmia/coloboma 3 | Enrichment | VSX2 | 2.36 |
| 56 | Diaphragmatic hernia 4, with cardiovascular defects | Enrichment | ALDH1A2 | 2.36 |
| 57 | Meacham syndrome | Enrichment | WT1 | 2.36 |
| 58 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.36 |
| 59 | Microphthalmia, syndromic 12 | Enrichment | RARB | 2.36 |
| 60 | Van maldergem syndrome 2 | Enrichment | FAT4 | 2.36 |
| 61 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.36 |
| 62 | Hennekam lymphangiectasia-lymphedema syndrome 2 | Enrichment | FAT4 | 2.36 |
| 63 | Hirschsprung disease 3 | Enrichment | GDNF | 2.36 |
| 64 | Type 1 diabetes mellitus 20 | Enrichment | HNF1A | 2.36 |
| 65 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 2.36 |
| 66 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.36 |
| 67 | Erythrocytosis, familial, 5 | Enrichment | EPO | 2.36 |
| 68 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.36 |
| 69 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.36 |
| 70 | Van maldergem syndrome | Enrichment | FAT4 | 2.36 |
| 71 | Chronic mast cell leukemia | Enrichment | KIT | 2.36 |
| 72 | Tufted angioma of skin | Enrichment | KDR | 2.36 |
| 73 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.36 |
| 74 | Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome | Enrichment | RSPO1 | 2.36 |
| 75 | Hyperinsulinism due to hnf4a deficiency | Enrichment | HNF4A | 2.36 |
| 76 | Isolated bone marrow mastocytosis | Enrichment | KIT | 2.36 |
| 77 | Smoldering systemic mastocytosis | Enrichment | KIT | 2.36 |
| 78 | Familial nephrotic syndrome | Enrichment | NPHS1 | 2.36 |
| 79 | Mastocytosis | Enrichment | KIT | 2.36 |
| 80 | Cutaneous mastocytoma | Enrichment | KIT | 2.36 |
| 81 | Pax2-related disorder | Enrichment | PAX2 | 2.36 |
| 82 | Typical urticaria pigmentosa | Enrichment | KIT | 2.36 |
| 83 | Medullary sponge kidney | Enrichment | HNF1B | 2.36 |
| 84 | Autosomal dominant nonsyndromic hearing loss 23 | Enrichment | SIX1 | 2.36 |
| 85 | Nodular urticaria pigmentosa | Enrichment | KIT | 2.36 |
| 86 | Renal dysplasia, bilateral | Enrichment | HNF1B | 2.36 |
| 87 | Unilateral multicystic dysplastic kidney | Enrichment | HNF1B | 2.36 |
| 88 | Pseudoxanthomatous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.36 |
| 89 | Renal dysplasia, unilateral | Enrichment | HNF1B | 2.36 |
| 90 | Telangiectasia macularis eruptiva perstans | Enrichment | KIT | 2.36 |
| 91 | Acute mast cell leukemia | Enrichment | KIT | 2.36 |
| 92 | Six2-related frontonasal dysplasia | Enrichment | SIX2 | 2.36 |
| 93 | Plaque-form urticaria pigmentosa | Enrichment | KIT | 2.36 |
| 94 | Bullous diffuse cutaneous mastocytosis | Enrichment | KIT | 2.36 |
| 95 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.36 |
| 96 | Testis seminoma | Enrichment | KIT | 2.36 |
| 97 | Hirschsprung disease 1 | Enrichment | AXIN2, GDNF | 2.15 |
| 98 | Connective tissue disease | Enrichment | ACTA2, NOTCH1 | 2.07 |
| 99 | Tubulointerstitial kidney disease, autosomal dominant 1 | Enrichment | HNF1B | 2.06 |
| 100 | Papillorenal syndrome | Enrichment | PAX2 | 2.06 |
| 101 | Renal cysts and diabetes syndrome | Enrichment | HNF1B | 2.06 |
| 102 | Deafness, unilateral | Enrichment | SIX1 | 2.06 |
| 103 | Maturity-onset diabetes of the young, type 1 | Enrichment | HNF4A | 2.06 |
| 104 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.06 |
| 105 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 2.06 |
| 106 | Denys-drash syndrome | Enrichment | WT1 | 2.06 |
| 107 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.06 |
| 108 | Nephrotic syndrome, type 2 | Enrichment | NPHS2 | 2.06 |
| 109 | Van maldergem syndrome 1 | Enrichment | FAT4 | 2.06 |
| 110 | Nephrotic syndrome, type 4 | Enrichment | WT1 | 2.06 |
| 111 | Tubulointerstitial kidney disease, autosomal dominant 4 | Enrichment | REN | 2.06 |
| 112 | Aortic aneurysm, familial thoracic 2 | Enrichment | ACTA2 | 2.06 |
| 113 | Branchiootic syndrome 3 | Enrichment | SIX1 | 2.06 |
| 114 | Piebald trait | Enrichment | KIT | 2.06 |
| 115 | Corneal dystrophy, congenital stromal | Enrichment | DCN | 2.06 |
| 116 | Smooth muscle dysfunction syndrome | Enrichment | ACTA2 | 2.06 |
| 117 | Aortic aneurysm, familial thoracic 6 | Enrichment | ACTA2 | 2.06 |
| 118 | Frasier syndrome | Enrichment | WT1 | 2.06 |
| 119 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.06 |
| 120 | Cardiomyopathy, dilated, 1i | Enrichment | DES | 2.06 |
| 121 | Angioma, tufted | Enrichment | KDR | 2.06 |
| 122 | Moyamoya disease 5 | Enrichment | ACTA2 | 2.06 |
| 123 | Diamond-blackfan anemia-like | Enrichment | EPO | 2.06 |
| 124 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RARB | 2.06 |
| 125 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 2.06 |
| 126 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.06 |
| 127 | Hyperuricemic nephropathy, familial juvenile, 3 | Enrichment | HNF1B | 2.06 |
| 128 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.06 |
| 129 | Townes-brocks syndrome | Enrichment | SALL1 | 2.06 |
| 130 | Focal segmental glomerulosclerosis 7 | Enrichment | PAX2 | 2.06 |
| 131 | Progressive familial heart block | Enrichment | DES | 2.06 |
| 132 | Erythrocytosis, familial, 3 | Enrichment | EGLN1 | 2.06 |
| 133 | Camurati-engelmann disease | Enrichment | TGFB1 | 2.06 |
| 134 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.06 |
| 135 | Otofaciocervical syndrome | Enrichment | EYA1 | 2.06 |
| 136 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | Enrichment | PBX1 | 2.06 |
| 137 | Hyperinsulinism | Enrichment | HNF4A | 2.06 |
| 138 | Congenital hypogonadotropic hypogonadism | Enrichment | EMX2 | 2.06 |
| 139 | Teratoma | Enrichment | CTNNB1 | 2.06 |
| 140 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KIT | 2.06 |
| 141 | Genetic nephrotic syndrome | Enrichment | NPHS2 | 2.06 |
| 142 | Idiopathic nephrotic syndrome | Enrichment | NPHS2 | 2.06 |
| 143 | Desmoplastic small round cell tumor | Enrichment | WT1 | 2.06 |
| 144 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.89 |
| 145 | Alagille syndrome 1 | Enrichment | JAG1 | 1.89 |
| 146 | Mesothelioma, malignant | Enrichment | WT1 | 1.89 |
| 147 | Myopathy, myofibrillar, 1 | Enrichment | DES | 1.89 |
| 148 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.89 |
| 149 | Anus, imperforate | Enrichment | CTNNB1 | 1.89 |
| 150 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.89 |
| 151 | Nephrotic syndrome, type 24 | Enrichment | NPHS2 | 1.89 |
| 152 | Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | Enrichment | HNF1A | 1.89 |
| 153 | Desmoid tumor | Enrichment | CTNNB1 | 1.89 |
| 154 | Hennekam syndrome | Enrichment | FAT4 | 1.89 |
| 155 | Testicular germ cell cancer | Enrichment | KIT | 1.89 |
| 156 | Keratoacanthoma | Enrichment | NOTCH1 | 1.89 |
| 157 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | ACTA2, NOTCH1 | 1.81 |
| 158 | Mirror movements 1 | Enrichment | NTN1 | 1.76 |
| 159 | Aniridia 1 | Enrichment | WT1 | 1.76 |
| 160 | Branchiooculofacial syndrome | Enrichment | EYA1 | 1.76 |
| 161 | Robinow syndrome, autosomal dominant 1 | Enrichment | WNT5A | 1.76 |
| 162 | Schizencephaly | Enrichment | EMX2 | 1.76 |
| 163 | Autoimmune lymphoproliferative syndrome | Enrichment | ACTA2 | 1.76 |
| 164 | Pilomatrixoma | Enrichment | CTNNB1 | 1.76 |
| 165 | Alazami syndrome | Enrichment | CTNNB1 | 1.76 |
| 166 | Craniopharyngioma | Enrichment | CTNNB1 | 1.76 |
| 167 | Autosomal dominant robinow syndrome | Enrichment | WNT5A | 1.76 |
| 168 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | KIT | 1.76 |
| 169 | Systemic mastocytosis with associated hematologic neoplasm | Enrichment | KIT | 1.76 |
| 170 | Middle aortic syndrome | Enrichment | JAG1 | 1.76 |
| 171 | Clear cell papillary renal cell carcinoma | Enrichment | HNF1A | 1.76 |
| 172 | Inherited cancer-predisposing syndrome | Enrichment | AXIN2, KIT, WT1 | 1.71 |
| 173 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | SIX1, TNC | 1.67 |
| 174 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.67 |
| 175 | Robinow syndrome, autosomal recessive 1 | Enrichment | WNT5A | 1.67 |
| 176 | Leber congenital amaurosis 10 | Enrichment | WT1 | 1.67 |
| 177 | Ventricular septal defect 1 | Enrichment | BMP7 | 1.67 |
| 178 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7 | 1.67 |
| 179 | Acute myeloid leukemia with maturation | Enrichment | KIT | 1.67 |
| 180 | Holoprosencephaly | Enrichment | FGF8 | 1.67 |
| 181 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | Enrichment | KIT | 1.67 |
| 182 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.67 |
| 183 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.59 |
| 184 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | WT1 | 1.59 |
| 185 | Holoprosencephaly 1 | Enrichment | FGF8 | 1.59 |
| 186 | Moyamoya disease 1 | Enrichment | ACTA2 | 1.59 |
| 187 | Type 1 diabetes mellitus | Enrichment | HNF1A | 1.59 |
| 188 | Testicular germ cell tumor | Enrichment | KIT | 1.59 |
| 189 | Wilms tumor 5 | Enrichment | WT1 | 1.59 |
| 190 | Renal tubular dysgenesis | Enrichment | REN | 1.59 |
| 191 | Hemangioma, capillary infantile | Enrichment | KDR | 1.59 |
| 192 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.59 |
| 193 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | PAX2 | 1.59 |
| 194 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.59 |
| 195 | Autosomal recessive robinow syndrome | Enrichment | WNT5A | 1.59 |
| 196 | Renal hypoplasia | Enrichment | PAX2 | 1.59 |
| 197 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.59 |
| 198 | Clear cell renal cell carcinoma | Enrichment | HNF1A | 1.59 |
| 199 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.59 |
| 200 | Primary ovarian insufficiency | Enrichment | KDR, WT1 | 1.57 |
| 201 | Gastrointestinal stromal tumor | Enrichment | KIT | 1.52 |
| 202 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.52 |
| 203 | Gallbladder cancer | Enrichment | CTNNB1 | 1.52 |
| 204 | Myofibrillar myopathy | Enrichment | DES | 1.52 |
| 205 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.46 |
| 206 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.46 |
| 207 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.46 |
| 208 | Difference of sex development | Enrichment | WT1 | 1.46 |
| 209 | Tooth agenesis, selective, 1 | Enrichment | AXIN2 | 1.41 |
| 210 | Leukemia, acute lymphoblastic 3 | Enrichment | WT1 | 1.41 |
| 211 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.41 |
| 212 | Congenital central hypoventilation syndrome | Enrichment | GDNF | 1.41 |
| 213 | Cystic kidney disease | Enrichment | PAX2 | 1.41 |
| 214 | Renal agenesis, bilateral | Enrichment | EYA1 | 1.41 |
| 215 | Peters-plus syndrome | Enrichment | BMP4 | 1.37 |
| 216 | Stickler syndrome | Enrichment | BMP4 | 1.37 |
| 217 | 46,xy complete gonadal dysgenesis | Enrichment | WT1 | 1.33 |
| 218 | Diabetes mellitus | Enrichment | HNF1A | 1.33 |
| 219 | Digeorge syndrome | Enrichment | HNF1A | 1.29 |
| 220 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4 | 1.29 |
| 221 | Lip and oral cavity carcinoma | Enrichment | KIT | 1.29 |
| 222 | Colorectal cancer | Enrichment | AXIN2, CTNNB1 | 1.26 |
| 223 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.26 |
| 224 | Acute promyelocytic leukemia | Enrichment | RARA | 1.26 |
| 225 | Chronic kidney disease | Enrichment | NPHS2 | 1.26 |
| 226 | Medulloblastoma | Enrichment | CTNNB1 | 1.23 |
| 227 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.23 |
| 228 | Lung cancer susceptibility 3 | Enrichment | ACTA2 | 1.23 |
| 229 | Cleft lip/palate | Enrichment | BMP4 | 1.23 |
| 230 | 46,xy partial gonadal dysgenesis | Enrichment | WT1 | 1.23 |
| 231 | Wilms tumor 1 | Enrichment | WT1 | 1.20 |
| 232 | Hydrocephalus | Enrichment | PDGFRB | 1.20 |
| 233 | Septopreoptic holoprosencephaly | Enrichment | FGF8 | 1.20 |
| 234 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8 | 1.20 |
| 235 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | DES | 1.17 |
| 236 | Microform holoprosencephaly | Enrichment | FGF8 | 1.17 |
| 237 | Lobar holoprosencephaly | Enrichment | FGF8 | 1.17 |
| 238 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.15 |
| 239 | Cardiomyopathy, dilated, 1e | Enrichment | DES | 1.15 |
| 240 | Alobar holoprosencephaly | Enrichment | FGF8 | 1.15 |
| 241 | Heart, malformation of | Enrichment | JAG1 | 1.12 |
| 242 | Neuromuscular disease | Enrichment | DES | 1.12 |
| 243 | Semilobar holoprosencephaly | Enrichment | FGF8 | 1.12 |
| 244 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF8 | 1.12 |
| 245 | Macs syndrome | Enrichment | VSX2 | 1.08 |
| 246 | Hepatocellular carcinoma | Enrichment | CTNNB1 | 1.04 |
| 247 | Tooth agenesis | Enrichment | AXIN2 | 1.04 |
| 248 | Kallmann syndrome | Enrichment | FGF8 | 1.02 |
| 249 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | TLX1 | 1.02 |
| 250 | Bladder cancer | Enrichment | CTNNB1 | 0.92 |
| 251 | Prostate cancer | Enrichment | HNF1B | 0.92 |
| 252 | Lung cancer | Enrichment | ACTA2 | 0.88 |
| 253 | Cystic fibrosis | Enrichment | TGFB1 | 0.88 |
| 254 | Familial hypertrophic cardiomyopathy | Enrichment | DES | 0.87 |
| 255 | Cerebral palsy | Enrichment | PDGFRB | 0.81 |
| 256 | Leukemia, acute myeloid | Enrichment | KIT | 0.80 |
| 257 | Familial isolated dilated cardiomyopathy | Enrichment | DES | 0.68 |
| 258 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.66 |
| 259 | Breast cancer | Enrichment | HNF1A | 0.55 |
| 260 | Rare genetic deafness | Enrichment | EYA1 | 0.53 |
| 261 | Dilated cardiomyopathy | Enrichment | DES | 0.53 |
| 262 | Hereditary retinal dystrophy | Enrichment | JAG1, PAX2 | 0.44 |
| 263 | Fundus dystrophy | Enrichment | JAG1, PAX2 | 0.44 |
| 264 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.43 |
| 265 | Nervous system disease | Enrichment | CTNNB1 | 0.43 |
| 266 | Autism spectrum disorder | Enrichment | PBX1 | 0.42 |
| 267 | Microcephaly | Enrichment | CTNNB1 | 0.38 |
| 268 | Retinitis pigmentosa | Enrichment | VSX2 | 0.22 |