| 1 | Septooptic dysplasia | Enrichment | FGFR1, SHH, SOX2 | 4.39 |
| 2 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGF10, FGFR3 | 4.00 |
| 3 | Keratoacanthoma | Enrichment | NOTCH1, NOTCH2 | 4.00 |
| 4 | Microform holoprosencephaly | Enrichment | FGF8, FGFR1, SHH | 4.00 |
| 5 | Lobar holoprosencephaly | Enrichment | FGF8, FGFR1, SHH | 4.00 |
| 6 | Semilobar holoprosencephaly | Enrichment | FGF8, FGFR1, SHH | 3.84 |
| 7 | Macs syndrome | Enrichment | PAX6, SHH, SOX2 | 3.70 |
| 8 | Kallmann syndrome | Enrichment | FGF8, FGFR1, SOX10 | 3.51 |
| 9 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.48 |
| 10 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA | 3.48 |
| 11 | Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome | Enrichment | BDNF, PAX6 | 3.31 |
| 12 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 3.31 |
| 13 | Anterior segment dysgenesis 5 | Enrichment | BMP4, PAX6 | 3.31 |
| 14 | Connective tissue disease | Enrichment | FGFR3, NOTCH1, SOX9 | 3.08 |
| 15 | Alternating hemiplegia of childhood | Enrichment | SLC1A3, SLC2A1 | 3.04 |
| 16 | Congenital central hypoventilation syndrome | Enrichment | BDNF, GDNF | 2.93 |
| 17 | Peters-plus syndrome | Enrichment | BMP4, PAX6 | 2.84 |
| 18 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4, FGFR3 | 2.67 |
| 19 | Microphthalmia/coloboma 12 | Enrichment | PAX2, PAX6 | 2.60 |
| 20 | Cleft lip/palate | Enrichment | BMP4, PDGFRA | 2.54 |
| 21 | Coloboma of macula | Enrichment | PAX2, PAX6 | 2.48 |
| 22 | Septopreoptic holoprosencephaly | Enrichment | FGF8, SHH | 2.48 |
| 23 | Midline interhemispheric variant of holoprosencephaly | Enrichment | FGF8, SHH | 2.48 |
| 24 | Gliosarcoma | Enrichment | FGFR1, FGFR3 | 2.42 |
| 25 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3 | 2.37 |
| 26 | Alobar holoprosencephaly | Enrichment | FGF8, SHH | 2.37 |
| 27 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF8, FGFR1 | 2.32 |
| 28 | Holoprosencephaly 3 | Enrichment | SHH | 2.23 |
| 29 | Hypochondroplasia | Enrichment | FGFR3 | 2.23 |
| 30 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.23 |
| 31 | Apnea, central sleep | Enrichment | CHAT | 2.23 |
| 32 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.23 |
| 33 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.23 |
| 34 | Muenke syndrome | Enrichment | FGFR3 | 2.23 |
| 35 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.23 |
| 36 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.23 |
| 37 | Stomatin-deficient cryohydrocytosis with neurologic defects | Enrichment | SLC2A1 | 2.23 |
| 38 | Stargardt disease 4 | Enrichment | PROM1 | 2.23 |
| 39 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 2.23 |
| 40 | Alagille syndrome 2 | Enrichment | NOTCH2 | 2.23 |
| 41 | Episodic ataxia, type 6 | Enrichment | SLC1A3 | 2.23 |
| 42 | Maturity-onset diabetes of the young, type 6 | Enrichment | NEUROD1 | 2.23 |
| 43 | Basal ganglia calcification, idiopathic, 5 | Enrichment | PDGFB | 2.23 |
| 44 | Microphthalmia/coloboma 5 | Enrichment | SHH | 2.23 |
| 45 | Uric acid concentration, serum, quantitative trait locus 1 | Enrichment | ABCG2 | 2.23 |
| 46 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.23 |
| 47 | Charcot-marie-tooth disease, demyelinating, type 1f | Enrichment | NEFL | 2.23 |
| 48 | Macular dystrophy, retinal, 2 | Enrichment | PROM1 | 2.23 |
| 49 | Gist-plus syndrome | Enrichment | PDGFRA | 2.23 |
| 50 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.23 |
| 51 | Whim syndrome 1 | Enrichment | CXCR4 | 2.23 |
| 52 | Aplasia of lacrimal and salivary glands | Enrichment | FGF10 | 2.23 |
| 53 | Endove syndrome, limb-brain type | Enrichment | EN1 | 2.23 |
| 54 | 46,xy sex reversal 10 | Enrichment | SOX9 | 2.23 |
| 55 | Charcot-marie-tooth disease, dominant intermediate g | Enrichment | NEFL | 2.23 |
| 56 | 46,xx sex reversal 2 | Enrichment | SOX9 | 2.23 |
| 57 | Developmental and epileptic encephalopathy 89 | Enrichment | GAD1 | 2.23 |
| 58 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.23 |
| 59 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.23 |
| 60 | Orofacial cleft 11 | Enrichment | BMP4 | 2.23 |
| 61 | Lacrimoauriculodentodigital syndrome 3 | Enrichment | FGF10 | 2.23 |
| 62 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.23 |
| 63 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.23 |
| 64 | Charcot-marie-tooth disease type 1f | Enrichment | NEFL | 2.23 |
| 65 | Glaucoma 1, open angle, o | Enrichment | NTF4 | 2.23 |
| 66 | Epilepsy, idiopathic generalized 12 | Enrichment | SLC2A1 | 2.23 |
| 67 | Narcolepsy 7 | Enrichment | MOG | 2.23 |
| 68 | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | Enrichment | VAMP2 | 2.23 |
| 69 | Retinitis pigmentosa 41 | Enrichment | PROM1 | 2.23 |
| 70 | Hirschsprung disease 3 | Enrichment | GDNF | 2.23 |
| 71 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 2.23 |
| 72 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.23 |
| 73 | Blood group, junior system | Enrichment | ABCG2 | 2.23 |
| 74 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.23 |
| 75 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.23 |
| 76 | Hartsfield syndrome | Enrichment | FGFR1 | 2.23 |
| 77 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.23 |
| 78 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.23 |
| 79 | Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism | Enrichment | NR4A2 | 2.23 |
| 80 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.23 |
| 81 | Short-rib thoracic dysplasia 22 without polydactyly | Enrichment | FGF4 | 2.23 |
| 82 | Aspiration pneumonia | Enrichment | CHAT | 2.23 |
| 83 | Charcot-marie-tooth disease type 2b5 | Enrichment | NEFL | 2.23 |
| 84 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.23 |
| 85 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.23 |
| 86 | Epilepsy with myoclonic absences | Enrichment | SLC2A1 | 2.23 |
| 87 | Pax2-related disorder | Enrichment | PAX2 | 2.23 |
| 88 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | Enrichment | THRB | 2.23 |
| 89 | Premature aging | Enrichment | VIM | 2.23 |
| 90 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.23 |
| 91 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.23 |
| 92 | Generalized resistance to thyroid hormone | Enrichment | THRB | 2.23 |
| 93 | Interstitial lung disease specific to childhood | Enrichment | FGF10 | 2.23 |
| 94 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | Enrichment | EOMES | 2.23 |
| 95 | Hereditary cryohydrocytosis with reduced stomatin | Enrichment | SLC2A1 | 2.23 |
| 96 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Enrichment | SHH | 2.23 |
| 97 | Microphthalmia | Enrichment | PAX6, SOX2 | 2.14 |
| 98 | Strabismus | Enrichment | GALC, SLC2A1 | 1.97 |
| 99 | Keratitis, hereditary | Enrichment | PAX6 | 1.94 |
| 100 | Thyroid hormone resistance, selective pituitary | Enrichment | THRB | 1.94 |
| 101 | Papillorenal syndrome | Enrichment | PAX2 | 1.94 |
| 102 | Foveal hypoplasia 1 | Enrichment | PAX6 | 1.94 |
| 103 | Campomelic dysplasia | Enrichment | SOX9 | 1.94 |
| 104 | Alexander disease | Enrichment | GFAP | 1.94 |
| 105 | Thyroid hormone resistance, generalized, autosomal dominant | Enrichment | THRB | 1.94 |
| 106 | Dystonia 9 | Enrichment | SLC2A1 | 1.94 |
| 107 | Pulmonary hypoplasia, primary | Enrichment | FGF10 | 1.94 |
| 108 | Thyroid hormone resistance, generalized, autosomal recessive | Enrichment | THRB | 1.94 |
| 109 | Dermatofibrosarcoma protuberans | Enrichment | PDGFB | 1.94 |
| 110 | Cervical cancer | Enrichment | FGFR3 | 1.94 |
| 111 | Waardenburg syndrome, type 4c | Enrichment | SOX10 | 1.94 |
| 112 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 1.94 |
| 113 | Glut1 deficiency syndrome 1 | Enrichment | SLC2A1 | 1.94 |
| 114 | Keratosis, seborrheic | Enrichment | FGFR3 | 1.94 |
| 115 | Pfeiffer syndrome | Enrichment | FGFR1 | 1.94 |
| 116 | Segawa syndrome, autosomal recessive | Enrichment | TH | 1.94 |
| 117 | Jackson-weiss syndrome | Enrichment | FGFR1 | 1.94 |
| 118 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.94 |
| 119 | Solitary median maxillary central incisor | Enrichment | SHH | 1.94 |
| 120 | Optic nerve hypoplasia, bilateral | Enrichment | PAX6 | 1.94 |
| 121 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.94 |
| 122 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | Enrichment | GFAP | 1.94 |
| 123 | Parkinsonism-dystonia 2, infantile-onset | Enrichment | SLC18A2 | 1.94 |
| 124 | Thyroid hormone resistance syndrome | Enrichment | THRB | 1.94 |
| 125 | Glucose transporter type 1 deficiency syndrome | Enrichment | SLC2A1 | 1.94 |
| 126 | Bladder exstrophy | Enrichment | ISL1 | 1.94 |
| 127 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 1.94 |
| 128 | Focal segmental glomerulosclerosis 7 | Enrichment | PAX2 | 1.94 |
| 129 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.94 |
| 130 | Cataract 30 | Enrichment | VIM | 1.94 |
| 131 | Vulto-van silfhout-de vries syndrome | Enrichment | DLG4 | 1.94 |
| 132 | Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease | Enrichment | SOX10 | 1.94 |
| 133 | Otosclerosis 12 | Enrichment | SMARCA4 | 1.94 |
| 134 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 1.94 |
| 135 | Cervix carcinoma | Enrichment | FGFR3 | 1.94 |
| 136 | Craniosynostosis 7 | Enrichment | BMP2 | 1.94 |
| 137 | Myasthenic syndrome, congenital, 21, presynaptic | Enrichment | CHAT | 1.94 |
| 138 | Status epilepticus | Enrichment | GALC | 1.94 |
| 139 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.94 |
| 140 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.94 |
| 141 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.94 |
| 142 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion | Enrichment | NR4A2 | 1.94 |
| 143 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.94 |
| 144 | Renal hypoplasia, bilateral | Enrichment | PAX2 | 1.94 |
| 145 | Isolated radial hemimelia | Enrichment | SHH | 1.94 |
| 146 | Campomelic dysplasia and related disorders | Enrichment | SOX9 | 1.94 |
| 147 | Hirschsprung disease 1 | Enrichment | GDNF, SOX10 | 1.91 |
| 148 | Peripheral nervous system disease | Enrichment | NEFL, NGF | 1.83 |
| 149 | Neuropathy | Enrichment | NEFL, NGF | 1.83 |
| 150 | Crouzon syndrome | Enrichment | FGFR3 | 1.76 |
| 151 | Achondroplasia | Enrichment | FGFR3 | 1.76 |
| 152 | Dystonia, dopa-responsive | Enrichment | TH | 1.76 |
| 153 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.76 |
| 154 | Larsen syndrome | Enrichment | FGFR3 | 1.76 |
| 155 | Waardenburg syndrome, type 2a | Enrichment | SOX10 | 1.76 |
| 156 | Gillespie syndrome | Enrichment | PAX6 | 1.76 |
| 157 | Myasthenic syndrome, congenital, 6, presynaptic | Enrichment | CHAT | 1.76 |
| 158 | Syndactyly, type iv | Enrichment | SHH | 1.76 |
| 159 | Intellectual developmental disorder, x-linked 96 | Enrichment | SYP | 1.76 |
| 160 | Weaver syndrome | Enrichment | EZH2 | 1.76 |
| 161 | 46,xx sex reversal 1 | Enrichment | SOX9 | 1.76 |
| 162 | Heart defects, congenital, and other congenital anomalies | Enrichment | DLG4 | 1.76 |
| 163 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.76 |
| 164 | Glut1 deficiency syndrome 2 | Enrichment | SLC2A1 | 1.76 |
| 165 | Cone-rod dystrophy 12 | Enrichment | PROM1 | 1.76 |
| 166 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.76 |
| 167 | Bronchopulmonary dysplasia | Enrichment | CHAT | 1.76 |
| 168 | Intellectual developmental disorder, autosomal dominant 62 | Enrichment | DLG4 | 1.76 |
| 169 | Chromosome 17q23.1-q23.2 deletion syndrome | Enrichment | SLC2A1 | 1.76 |
| 170 | Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures | Enrichment | DLG4 | 1.76 |
| 171 | Hamartoma | Enrichment | FGFR3 | 1.76 |
| 172 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.76 |
| 173 | Hypoplastic or aplastic tibia with polydactyly | Enrichment | SHH | 1.76 |
| 174 | Dlg4-related synaptopathy | Enrichment | DLG4 | 1.76 |
| 175 | Spermatocytoma | Enrichment | FGFR3 | 1.76 |
| 176 | Gtp cyclohydrolase 1-deficient dopa-responsive dystonia | Enrichment | NR4A2 | 1.76 |
| 177 | Testicular cancer | Enrichment | FGFR3 | 1.76 |
| 178 | Epilepsy | Enrichment | NR4A2, SLC2A1 | 1.65 |
| 179 | Currarino syndrome | Enrichment | MNX1 | 1.64 |
| 180 | Aniridia 1 | Enrichment | PAX6 | 1.64 |
| 181 | Brachydactyly, type a2 | Enrichment | BMP2 | 1.64 |
| 182 | Polydactyly, preaxial ii | Enrichment | SHH | 1.64 |
| 183 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DLG4 | 1.64 |
| 184 | Krabbe disease | Enrichment | GALC | 1.64 |
| 185 | Microphthalmia, syndromic 3 | Enrichment | SOX2 | 1.64 |
| 186 | Schizencephaly | Enrichment | SHH | 1.64 |
| 187 | Saethre-chotzen syndrome | Enrichment | FGFR3 | 1.64 |
| 188 | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | Enrichment | GAD1 | 1.64 |
| 189 | Spastic quadriplegic cerebral palsy | Enrichment | GAD1 | 1.64 |
| 190 | Eyelid coloboma | Enrichment | PAX6 | 1.64 |
| 191 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.64 |
| 192 | Haddad syndrome | Enrichment | ASCL1 | 1.64 |
| 193 | Lens coloboma | Enrichment | PAX6 | 1.64 |
| 194 | Hemifacial hyperplasia | Enrichment | FGFR3 | 1.54 |
| 195 | Hypogonadotropic hypogonadism 1 with or without anosmia | Enrichment | SOX10 | 1.54 |
| 196 | Fabry disease | Enrichment | GALC | 1.54 |
| 197 | Insulin-like growth factor i | Enrichment | IGF1 | 1.54 |
| 198 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | NEFL | 1.54 |
| 199 | Ventricular septal defect 1 | Enrichment | BMP2 | 1.54 |
| 200 | Amblyopia | Enrichment | GALC | 1.54 |
| 201 | Histiocytoid hemangioma | Enrichment | VIM | 1.54 |
| 202 | Nonsyndromic 46,xx testicular disorders/differences of sex development | Enrichment | SOX9 | 1.54 |
| 203 | Aniridia | Enrichment | PAX6 | 1.54 |
| 204 | Coloboma of choroid and retina | Enrichment | PAX6 | 1.54 |
| 205 | Atrial septal defect 1 | Enrichment | BMP2 | 1.46 |
| 206 | Coloboma of optic nerve | Enrichment | PAX6 | 1.46 |
| 207 | Pierre robin syndrome | Enrichment | SOX9 | 1.46 |
| 208 | Metachromatic leukodystrophy | Enrichment | GFAP | 1.46 |
| 209 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.46 |
| 210 | Waardenburg syndrome, type 4a | Enrichment | SOX10 | 1.46 |
| 211 | Congenital anomalies of kidney and urinary tract 1 | Enrichment | PAX2 | 1.46 |
| 212 | Renal hypoplasia | Enrichment | PAX2 | 1.46 |
| 213 | Lung squamous cell carcinoma | Enrichment | FGFR3 | 1.46 |
| 214 | Waardenburg syndrome | Enrichment | SOX10 | 1.46 |
| 215 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.46 |
| 216 | Nevus, epidermal | Enrichment | FGFR3 | 1.40 |
| 217 | Waardenburg syndrome, type 1 | Enrichment | SOX10 | 1.40 |
| 218 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.40 |
| 219 | Waardenburg syndrome, type 2e | Enrichment | SOX10 | 1.40 |
| 220 | Neuropathy, hereditary sensory and autonomic, type v | Enrichment | NGF | 1.40 |
| 221 | Adams-oliver syndrome | Enrichment | NOTCH1 | 1.40 |
| 222 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.40 |
| 223 | Paroxysmal dystonia | Enrichment | SLC2A1 | 1.40 |
| 224 | Inherited cancer-predisposing syndrome | Enrichment | EZH2, PDGFRA, SMARCA4 | 1.38 |
| 225 | Gastroesophageal reflux | Enrichment | CHAT | 1.34 |
| 226 | Narcolepsy 1 | Enrichment | MOG | 1.34 |
| 227 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFB | 1.34 |
| 228 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.34 |
| 229 | Leber congenital amaurosis 1 | Enrichment | PROM1 | 1.34 |
| 230 | Neuroblastoma | Enrichment | SMARCA4 | 1.34 |
| 231 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.34 |
| 232 | Orofacial cleft 1 | Enrichment | FGF10 | 1.29 |
| 233 | Myoclonic-atonic epilepsy | Enrichment | SLC2A1 | 1.29 |
| 234 | Adult hepatocellular carcinoma | Enrichment | EGF | 1.29 |
| 235 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.29 |
| 236 | Cystic kidney disease | Enrichment | PAX2 | 1.29 |
| 237 | Ventricular septal defect | Enrichment | SMARCA4 | 1.29 |
| 238 | Cat eye syndrome | Enrichment | PAX6 | 1.25 |
| 239 | Cataract 30, multiple types | Enrichment | VIM | 1.25 |
| 240 | Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | Enrichment | CHAT | 1.25 |
| 241 | Stickler syndrome | Enrichment | BMP4 | 1.25 |
| 242 | Primary bone dysplasia | Enrichment | FGFR3 | 1.25 |
| 243 | Meningioma, familial | Enrichment | PDGFB | 1.21 |
| 244 | Nanophthalmos | Enrichment | SOX2 | 1.21 |
| 245 | Atrial heart septal defect | Enrichment | SMARCA4 | 1.21 |
| 246 | 46,xy complete gonadal dysgenesis | Enrichment | SOX9 | 1.21 |
| 247 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.21 |
| 248 | Interatrial communication | Enrichment | SMARCA4 | 1.21 |
| 249 | Presynaptic congenital myasthenic syndromes | Enrichment | CHAT | 1.21 |
| 250 | Meningioma | Enrichment | PDGFB | 1.17 |
| 251 | Lactic acidosis | Enrichment | CHAT | 1.17 |
| 252 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.14 |
| 253 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.14 |
| 254 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.10 |
| 255 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.10 |
| 256 | Lung cancer susceptibility 3 | Enrichment | FGF10 | 1.10 |
| 257 | Congenital myasthenic syndrome | Enrichment | CHAT | 1.10 |
| 258 | 46,xy partial gonadal dysgenesis | Enrichment | SOX9 | 1.10 |
| 259 | Isolated macular dystrophy | Enrichment | PROM1 | 1.10 |
| 260 | Coffin-siris syndrome 1 | Enrichment | SMARCA4 | 1.08 |
| 261 | Anterior segment dysgenesis | Enrichment | PAX6 | 1.08 |
| 262 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.08 |
| 263 | Colorectal cancer | Enrichment | FGFR3, SOX9 | 1.04 |
| 264 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.02 |
| 265 | Beckwith-wiedemann syndrome | Enrichment | GALC | 1.00 |
| 266 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | NEFL | 0.98 |
| 267 | Parkinson's disease | Enrichment | NR4A2 | 0.98 |
| 268 | Maturity-onset diabetes of the young | Enrichment | NEUROD1 | 0.96 |
| 269 | Leukodystrophy | Enrichment | GALC | 0.96 |
| 270 | Craniosynostosis | Enrichment | FGFR3 | 0.96 |
| 271 | Focal segmental glomerulosclerosis | Enrichment | PAX2 | 0.96 |
| 272 | Hepatoblastoma | Enrichment | FGFR3 | 0.94 |
| 273 | Tooth agenesis | Enrichment | FGFR1 | 0.92 |
| 274 | Congenital nervous system abnormality | Enrichment | FGFR3, GALC | 0.90 |
| 275 | Nervous system disease | Enrichment | FGFR3, GALC | 0.90 |
| 276 | Parkinson disease, late-onset | Enrichment | NR4A2 | 0.88 |
| 277 | Scoliosis | Enrichment | GFAP | 0.88 |
| 278 | Developmental and epileptic encephalopathy 1 | Enrichment | SLC2A1 | 0.87 |
| 279 | Tetralogy of fallot | Enrichment | NOTCH1 | 0.85 |
| 280 | Auditory neuropathy | Enrichment | NEFL | 0.85 |
| 281 | Bladder cancer | Enrichment | FGFR3 | 0.81 |
| 282 | Stargardt disease 1 | Enrichment | PROM1 | 0.79 |
| 283 | Complex neurodevelopmental disorder | Enrichment | DLG4, NR4A2 | 0.79 |
| 284 | Usher syndrome | Enrichment | PROM1 | 0.76 |
| 285 | Cakut | Enrichment | PAX2 | 0.74 |
| 286 | Genetic steroid-resistant nephrotic syndrome | Enrichment | PAX2 | 0.74 |
| 287 | Dystonia | Enrichment | TH | 0.73 |
| 288 | Non-syndromic x-linked intellectual disability | Enrichment | SYP | 0.72 |
| 289 | Cerebral palsy | Enrichment | SMARCA4 | 0.69 |
| 290 | Charcot-marie-tooth disease | Enrichment | NEFL | 0.67 |
| 291 | Benign epilepsy with centrotemporal spikes | Enrichment | SLC2A1 | 0.67 |
| 292 | Type 2 diabetes mellitus | Enrichment | NEUROD1 | 0.66 |
| 293 | Centralopathic epilepsy | Enrichment | SLC2A1 | 0.65 |
| 294 | Nephrotic syndrome | Enrichment | PAX2 | 0.65 |
| 295 | West syndrome | Enrichment | SLC2A1 | 0.64 |
| 296 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1 | 0.64 |
| 297 | Hereditary retinal dystrophy | Enrichment | NEUROD1, PAX2, PROM1 | 0.62 |
| 298 | Fundus dystrophy | Enrichment | NEUROD1, PAX2, PROM1 | 0.62 |
| 299 | Sensorineural hearing loss | Enrichment | NEFL | 0.61 |
| 300 | Body mass index quantitative trait locus 11 | Enrichment | BDNF | 0.60 |
| 301 | Hypertelorism | Enrichment | PAX6 | 0.58 |
| 302 | Spastic ataxia | Enrichment | GALC | 0.57 |
| 303 | Myeloma, multiple | Enrichment | FGFR3 | 0.55 |
| 304 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.55 |
| 305 | Primary ovarian insufficiency | Enrichment | NOTCH2 | 0.53 |
| 306 | Cone-rod dystrophy 2 | Enrichment | PROM1 | 0.48 |
| 307 | Autism | Enrichment | SHH | 0.46 |
| 308 | Rare genetic deafness | Enrichment | SOX10 | 0.43 |
| 309 | Leber plus disease | Enrichment | PROM1 | 0.37 |
| 310 | Ovarian cancer | Enrichment | PDGFRA | 0.35 |
| 311 | Autism spectrum disorder | Enrichment | NR4A2 | 0.33 |
| 312 | Microcephaly | Enrichment | SLC2A1 | 0.29 |
| 313 | Retinitis pigmentosa | Enrichment | PROM1 | 0.15 |