| 1 | Focal segmental glomerulosclerosis | Enrichment | EYA1, NPHS1, NPHS2, PAX2, WT1 | 8.37 |
| 2 | Nephrotic syndrome | Enrichment | ITGA3, LAMB2, LMX1B, NPHS1, NPHS2, PAX2 | 8.34 |
| 3 | Cakut | Enrichment | ETV4, FOXC1, HNF1B, PAX2, SLIT2 | 7.13 |
| 4 | Genetic steroid-resistant nephrotic syndrome | Enrichment | CD2AP, NPHS1, NPHS2, PAX2, WT1 | 7.13 |
| 5 | Renal agenesis, bilateral | Enrichment | EYA1, ITGA8, RET | 5.58 |
| 6 | Branchiootic syndrome | Enrichment | EYA1, SIX1 | 4.99 |
| 7 | Branchiootic syndrome 1 | Enrichment | EYA1, SIX1 | 4.99 |
| 8 | Kidney disease | Enrichment | LAMB2, NPHS1, WT1 | 4.85 |
| 9 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | HNF1B, WNT4 | 4.51 |
| 10 | Chromosome 17q12 deletion syndrome | Enrichment | HNF1B, LHX1 | 4.51 |
| 11 | Schizencephaly | Enrichment | EMX2, SHH | 4.21 |
| 12 | Hirschsprung disease 1 | Enrichment | GDNF, GLI3, RET | 3.96 |
| 13 | Branchiootorenal syndrome 1 | Enrichment | EYA1, SIX1 | 3.82 |
| 14 | Branchiootorenal syndrome | Enrichment | EYA1, SIX1 | 3.67 |
| 15 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB, PDGFRB | 3.55 |
| 16 | Renal hypodysplasia/aplasia 1 | Enrichment | ITGA8, RET | 3.55 |
| 17 | Ovarian cancer | Enrichment | CTNNB1, HNF1B, RET, WT1 | 3.50 |
| 18 | Nephrotic syndrome, type 1 | Enrichment | NPHS1, NPHS2 | 3.44 |
| 19 | Congenital central hypoventilation syndrome | Enrichment | GDNF, RET | 3.44 |
| 20 | Primary ovarian insufficiency | Enrichment | KDR, NOTCH2, WT1 | 3.04 |
| 21 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 2.98 |
| 22 | Septopreoptic holoprosencephaly | Enrichment | FGF8, SHH | 2.98 |
| 23 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8, SHH | 2.98 |
| 24 | Microform holoprosencephaly | Enrichment | FGF8, SHH | 2.92 |
| 25 | Lobar holoprosencephaly | Enrichment | FGF8, SHH | 2.92 |
| 26 | Alobar holoprosencephaly | Enrichment | FGF8, SHH | 2.87 |
| 27 | Semilobar holoprosencephaly | Enrichment | FGF8, SHH | 2.82 |
| 28 | Craniosynostosis | Enrichment | FGFR2, GLI3 | 2.73 |
| 29 | Hepatocellular carcinoma | Enrichment | CTNNB1, RET | 2.64 |
| 30 | Colorectal cancer | Enrichment | CTNNB1, FGFR2, RET | 2.55 |
| 31 | Tetralogy of fallot | Enrichment | KDR, RET | 2.50 |
| 32 | Holoprosencephaly 3 | Enrichment | SHH | 2.49 |
| 33 | Multiple endocrine neoplasia, type iib | Enrichment | RET | 2.49 |
| 34 | Pallister-hall syndrome | Enrichment | GLI3 | 2.49 |
| 35 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.49 |
| 36 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 2.49 |
| 37 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.49 |
| 38 | Focal segmental glomerulosclerosis 10 | Enrichment | LMX1B | 2.49 |
| 39 | Hypertelorism and tetralogy of fallot | Enrichment | FOXC1 | 2.49 |
| 40 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.49 |
| 41 | Vesicoureteral reflux 2 | Enrichment | ROBO2 | 2.49 |
| 42 | Coronary heart disease 7 | Enrichment | CD36 | 2.49 |
| 43 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.49 |
| 44 | Polydactyly, preaxial iv | Enrichment | GLI3 | 2.49 |
| 45 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.49 |
| 46 | Apert syndrome | Enrichment | FGFR2 | 2.49 |
| 47 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 2.49 |
| 48 | Alagille syndrome 2 | Enrichment | NOTCH2 | 2.49 |
| 49 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.49 |
| 50 | Nail-patella syndrome | Enrichment | LMX1B | 2.49 |
| 51 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.49 |
| 52 | Otofaciocervical syndrome 1 | Enrichment | EYA1 | 2.49 |
| 53 | Prostate cancer, hereditary, 11 | Enrichment | HNF1B | 2.49 |
| 54 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.49 |
| 55 | Whim syndrome 1 | Enrichment | CXCR4 | 2.49 |
| 56 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.49 |
| 57 | Deafness, autosomal dominant 23 | Enrichment | SIX1 | 2.49 |
| 58 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | Enrichment | HOXA11 | 2.49 |
| 59 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.49 |
| 60 | Platelet glycoprotein iv deficiency | Enrichment | CD36 | 2.49 |
| 61 | Meacham syndrome | Enrichment | WT1 | 2.49 |
| 62 | Focal segmental glomerulosclerosis 3 | Enrichment | CD2AP | 2.49 |
| 63 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.49 |
| 64 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.49 |
| 65 | Hirschsprung disease 3 | Enrichment | GDNF | 2.49 |
| 66 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 2.49 |
| 67 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.49 |
| 68 | Lipoid nephrosis | Enrichment | LMX1B | 2.49 |
| 69 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.49 |
| 70 | Tufted angioma of skin | Enrichment | KDR | 2.49 |
| 71 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.49 |
| 72 | Thyroid cancer | Enrichment | RET | 2.49 |
| 73 | Familial nephrotic syndrome | Enrichment | NPHS1 | 2.49 |
| 74 | Pax2-related disorder | Enrichment | PAX2 | 2.49 |
| 75 | Medullary sponge kidney | Enrichment | HNF1B | 2.49 |
| 76 | Autosomal dominant nonsyndromic hearing loss 23 | Enrichment | SIX1 | 2.49 |
| 77 | Renal dysplasia, bilateral | Enrichment | HNF1B | 2.49 |
| 78 | Unilateral multicystic dysplastic kidney | Enrichment | HNF1B | 2.49 |
| 79 | Renal dysplasia, unilateral | Enrichment | HNF1B | 2.49 |
| 80 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.49 |
| 81 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.49 |
| 82 | Gastrointestinal system disease | Enrichment | RET | 2.49 |
| 83 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.49 |
| 84 | Multiple endocrine neoplasia | Enrichment | RET | 2.49 |
| 85 | Tubulointerstitial kidney disease, autosomal dominant 1 | Enrichment | HNF1B | 2.19 |
| 86 | Papillorenal syndrome | Enrichment | PAX2 | 2.19 |
| 87 | Renal cysts and diabetes syndrome | Enrichment | HNF1B | 2.19 |
| 88 | Congenital anomalies of kidney and urinary tract 2 | Enrichment | HNF1B | 2.19 |
| 89 | Deafness, unilateral | Enrichment | SIX1 | 2.19 |
| 90 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 2.19 |
| 91 | Denys-drash syndrome | Enrichment | WT1 | 2.19 |
| 92 | Myasthenic syndrome, congenital, 5 | Enrichment | LAMB2 | 2.19 |
| 93 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.19 |
| 94 | Nephrotic syndrome, type 2 | Enrichment | NPHS2 | 2.19 |
| 95 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 2.19 |
| 96 | Axenfeld-rieger syndrome, type 3 | Enrichment | FOXC1 | 2.19 |
| 97 | Nephrotic syndrome, type 4 | Enrichment | WT1 | 2.19 |
| 98 | Genitourinary tract anomalies | Enrichment | HOXA11 | 2.19 |
| 99 | Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | Enrichment | FOXC1 | 2.19 |
| 100 | Branchiootic syndrome 3 | Enrichment | SIX1 | 2.19 |
| 101 | Lymphedema-distichiasis syndrome | Enrichment | FOXC2 | 2.19 |
| 102 | Aural atresia, congenital | Enrichment | FGFR2 | 2.19 |
| 103 | Pfeiffer syndrome | Enrichment | FGFR2 | 2.19 |
| 104 | Jackson-weiss syndrome | Enrichment | FGFR2 | 2.19 |
| 105 | Solitary median maxillary central incisor | Enrichment | SHH | 2.19 |
| 106 | Frasier syndrome | Enrichment | WT1 | 2.19 |
| 107 | Angioma, tufted | Enrichment | KDR | 2.19 |
| 108 | Pierson syndrome | Enrichment | LAMB2 | 2.19 |
| 109 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.19 |
| 110 | Anterior segment dysgenesis 3 | Enrichment | FOXC1 | 2.19 |
| 111 | Infantile myofibromatosis | Enrichment | PDGFRB | 2.19 |
| 112 | Nephrotic syndrome, type 5, with or without ocular abnormalities | Enrichment | LAMB2 | 2.19 |
| 113 | Hyperuricemic nephropathy, familial juvenile, 3 | Enrichment | HNF1B | 2.19 |
| 114 | Tibial hemimelia | Enrichment | GLI3 | 2.19 |
| 115 | Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | Enrichment | ITGA3 | 2.19 |
| 116 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.19 |
| 117 | Focal segmental glomerulosclerosis 7 | Enrichment | PAX2 | 2.19 |
| 118 | Split hand-foot malformation | Enrichment | FGFR2 | 2.19 |
| 119 | Synpolydactyly | Enrichment | GLI3 | 2.19 |
| 120 | Medullary thyroid carcinoma | Enrichment | RET | 2.19 |
| 121 | 9q33.3q34.11 microdeletion syndrome | Enrichment | LMX1B | 2.19 |
| 122 | Nephrotic syndrome, type 23 | Enrichment | KIRREL1 | 2.19 |
| 123 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.19 |
| 124 | Otofaciocervical syndrome | Enrichment | EYA1 | 2.19 |
| 125 | Axenfeld-rieger syndrome | Enrichment | FOXC1 | 2.19 |
| 126 | Postaxial polydactyly type b | Enrichment | GLI3 | 2.19 |
| 127 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.19 |
| 128 | Congenital hypogonadotropic hypogonadism | Enrichment | EMX2 | 2.19 |
| 129 | Teratoma | Enrichment | CTNNB1 | 2.19 |
| 130 | Renal hypoplasia, bilateral | Enrichment | PAX2 | 2.19 |
| 131 | Genetic nephrotic syndrome | Enrichment | NPHS2 | 2.19 |
| 132 | Isolated radial hemimelia | Enrichment | SHH | 2.19 |
| 133 | Idiopathic nephrotic syndrome | Enrichment | NPHS2 | 2.19 |
| 134 | Desmoplastic small round cell tumor | Enrichment | WT1 | 2.19 |
| 135 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | Enrichment | HOXA11 | 2.19 |
| 136 | Crouzon syndrome | Enrichment | FGFR2 | 2.01 |
| 137 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.01 |
| 138 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2 | 2.01 |
| 139 | Thyroid carcinoma, familial medullary | Enrichment | RET | 2.01 |
| 140 | Mesothelioma, malignant | Enrichment | WT1 | 2.01 |
| 141 | Acrocallosal syndrome | Enrichment | GLI3 | 2.01 |
| 142 | Syndactyly, type iv | Enrichment | SHH | 2.01 |
| 143 | Aarskog-scott syndrome | Enrichment | GLI3 | 2.01 |
| 144 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.01 |
| 145 | Anus, imperforate | Enrichment | CTNNB1 | 2.01 |
| 146 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.01 |
| 147 | Nephrotic syndrome, type 24 | Enrichment | NPHS2 | 2.01 |
| 148 | Umbilical hernia | Enrichment | GLI3 | 2.01 |
| 149 | Desmoid tumor | Enrichment | CTNNB1 | 2.01 |
| 150 | Gingival overgrowth | Enrichment | RET | 2.01 |
| 151 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 2.01 |
| 152 | Chromophobe renal cell carcinoma | Enrichment | HNF1B | 2.01 |
| 153 | Familial vesicoureteral reflux | Enrichment | ROBO2 | 2.01 |
| 154 | Keratoacanthoma | Enrichment | NOTCH2 | 2.01 |
| 155 | Hypertelorism | Enrichment | FGFR2, RET | 1.91 |
| 156 | Aniridia 1 | Enrichment | WT1 | 1.89 |
| 157 | Branchiooculofacial syndrome | Enrichment | EYA1 | 1.89 |
| 158 | Polydactyly, preaxial ii | Enrichment | SHH | 1.89 |
| 159 | Developmental and epileptic encephalopathy 4 | Enrichment | LMX1B | 1.89 |
| 160 | Saethre-chotzen syndrome | Enrichment | FGFR2 | 1.89 |
| 161 | Pilomatrixoma | Enrichment | CTNNB1 | 1.89 |
| 162 | Alazami syndrome | Enrichment | CTNNB1 | 1.89 |
| 163 | Central hypoventilation syndrome, congenital, 1 | Enrichment | RET | 1.89 |
| 164 | Craniopharyngioma | Enrichment | CTNNB1 | 1.89 |
| 165 | Blood platelet disease | Enrichment | CD36 | 1.89 |
| 166 | Cerebral malaria | Enrichment | CD36 | 1.89 |
| 167 | Glioma | Enrichment | FGFR2 | 1.89 |
| 168 | Haddad syndrome | Enrichment | RET | 1.89 |
| 169 | Hemifacial hyperplasia | Enrichment | FGFR2 | 1.79 |
| 170 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.79 |
| 171 | Multiple endocrine neoplasia, type iia | Enrichment | RET | 1.79 |
| 172 | Leber congenital amaurosis 10 | Enrichment | WT1 | 1.79 |
| 173 | Holoprosencephaly | Enrichment | FGF8 | 1.79 |
| 174 | Juvenile glaucoma | Enrichment | FOXC1 | 1.79 |
| 175 | Aniridia | Enrichment | FOXC1 | 1.79 |
| 176 | Primary hypereosinophilic syndrome | Enrichment | PDGFRB | 1.79 |
| 177 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.71 |
| 178 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.71 |
| 179 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | WT1 | 1.71 |
| 180 | Holoprosencephaly 1 | Enrichment | FGF8 | 1.71 |
| 181 | Wilms tumor 5 | Enrichment | WT1 | 1.71 |
| 182 | Hemangioma, capillary infantile | Enrichment | KDR | 1.71 |
| 183 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | PAX2 | 1.71 |
| 184 | Renal hypoplasia | Enrichment | PAX2 | 1.71 |
| 185 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.71 |
| 186 | Sporadic pheochromocytoma/secreting paraganglioma | Enrichment | RET | 1.71 |
| 187 | Gallbladder cancer | Enrichment | CTNNB1 | 1.65 |
| 188 | Ewing sarcoma | Enrichment | ETV4 | 1.59 |
| 189 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.59 |
| 190 | Hypothyroidism | Enrichment | RET | 1.59 |
| 191 | Difference of sex development | Enrichment | WT1 | 1.59 |
| 192 | Leukemia, acute lymphoblastic 3 | Enrichment | WT1 | 1.54 |
| 193 | Adult hepatocellular carcinoma | Enrichment | CTNNB1 | 1.54 |
| 194 | Cystic kidney disease | Enrichment | PAX2 | 1.54 |
| 195 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.50 |
| 196 | Peters-plus syndrome | Enrichment | FOXC1 | 1.50 |
| 197 | Meningioma, familial | Enrichment | PDGFB | 1.45 |
| 198 | 46,xy complete gonadal dysgenesis | Enrichment | WT1 | 1.45 |
| 199 | Septooptic dysplasia | Enrichment | SHH | 1.42 |
| 200 | Renal hypodysplasia/aplasia 3 | Enrichment | RET | 1.42 |
| 201 | Meningioma | Enrichment | PDGFB | 1.42 |
| 202 | Microphthalmia/coloboma 12 | Enrichment | PAX2 | 1.38 |
| 203 | Diaphragmatic hernia, congenital | Enrichment | GLI3 | 1.38 |
| 204 | Neural tube defects | Enrichment | ITGB1 | 1.38 |
| 205 | Chronic kidney disease | Enrichment | NPHS2 | 1.38 |
| 206 | Medulloblastoma | Enrichment | CTNNB1 | 1.35 |
| 207 | Pheochromocytoma | Enrichment | RET | 1.35 |
| 208 | 46,xy partial gonadal dysgenesis | Enrichment | WT1 | 1.35 |
| 209 | Coloboma of macula | Enrichment | PAX2 | 1.32 |
| 210 | Renal cell carcinoma, nonpapillary | Enrichment | HNF1B | 1.32 |
| 211 | Polydactyly, postaxial, type a1 | Enrichment | GLI3 | 1.32 |
| 212 | Wilms tumor 1 | Enrichment | WT1 | 1.32 |
| 213 | Anterior segment dysgenesis | Enrichment | FOXC1 | 1.32 |
| 214 | Dandy-walker syndrome | Enrichment | PDGFRB | 1.27 |
| 215 | Polycystic liver disease | Enrichment | CTNNB1 | 1.27 |
| 216 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.27 |
| 217 | Human immunodeficiency virus type 1 | Enrichment | CXCL12 | 1.25 |
| 218 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF8 | 1.25 |
| 219 | Macs syndrome | Enrichment | SHH | 1.20 |
| 220 | Maturity-onset diabetes of the young | Enrichment | HNF1B | 1.20 |
| 221 | Endometrial cancer | Enrichment | FGFR2 | 1.18 |
| 222 | Hepatoblastoma | Enrichment | CTNNB1 | 1.18 |
| 223 | Hereditary paraganglioma-pheochromocytoma syndromes | Enrichment | RET | 1.18 |
| 224 | Inherited cancer-predisposing syndrome | Enrichment | RET, WT1 | 1.17 |
| 225 | Malaria | Enrichment | CD36 | 1.14 |
| 226 | Kallmann syndrome | Enrichment | FGF8 | 1.14 |
| 227 | Hydrops fetalis, nonimmune | Enrichment | FOXC2 | 1.09 |
| 228 | Bladder cancer | Enrichment | CTNNB1 | 1.05 |
| 229 | Prostate cancer | Enrichment | HNF1B | 1.05 |
| 230 | Differentiated thyroid carcinoma | Enrichment | RET | 1.05 |
| 231 | Non-immune hydrops fetalis | Enrichment | FOXC2 | 1.02 |
| 232 | Cerebral palsy | Enrichment | PDGFRB | 0.92 |
| 233 | Type 2 diabetes mellitus | Enrichment | HNF1B | 0.89 |
| 234 | Gastric cancer | Enrichment | FGFR2 | 0.88 |
| 235 | Hereditary breast carcinoma | Enrichment | RET | 0.87 |
| 236 | Sensorineural hearing loss | Enrichment | RET | 0.84 |
| 237 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | SIX1 | 0.81 |
| 238 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.78 |
| 239 | Autism | Enrichment | SHH | 0.68 |
| 240 | Breast cancer | Enrichment | RET | 0.66 |
| 241 | Rare genetic deafness | Enrichment | EYA1 | 0.64 |
| 242 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.53 |
| 243 | Nervous system disease | Enrichment | CTNNB1 | 0.53 |
| 244 | Microcephaly | Enrichment | CTNNB1 | 0.48 |
| 245 | Hereditary retinal dystrophy | Enrichment | PAX2 | 0.21 |
| 246 | Fundus dystrophy | Enrichment | PAX2 | 0.21 |