| 1 | Hemifacial hyperplasia | Enrichment | EFNB1, FGFR2, FGFR3 | 5.57 |
| 2 | Primary hypereosinophilic syndrome | Enrichment | FGFR1, PDGFRA, PDGFRB | 5.57 |
| 3 | Loeys-dietz syndrome | Enrichment | TGFB2, TGFB3, TGFBR1 | 4.65 |
| 4 | Tetralogy of fallot | Enrichment | FLT4, JAG1, KDR, NOTCH1 | 4.63 |
| 5 | Primary ovarian insufficiency | Enrichment | ADAMTS1, KDR, NOS3, NOTCH2, THBS1 | 4.39 |
| 6 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.37 |
| 7 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.37 |
| 8 | Infantile myofibromatosis | Enrichment | NOTCH3, PDGFRB | 4.37 |
| 9 | Loeys-dietz syndrome 4 | Enrichment | TGFB2, TGFB3 | 4.37 |
| 10 | Metaphyseal anadysplasia | Enrichment | MMP13, MMP9 | 4.37 |
| 11 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 3.90 |
| 12 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 3.90 |
| 13 | Keratoacanthoma | Enrichment | NOTCH1, NOTCH2 | 3.90 |
| 14 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | NOTCH1, TGFB2, TGFB3, TGFBR1 | 3.72 |
| 15 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.60 |
| 16 | Hepatoblastoma | Enrichment | FGFR3, JAG1, REN | 3.48 |
| 17 | Pre-eclampsia | Enrichment | FLT1, NOS3 | 3.38 |
| 18 | Familial cerebral saccular aneurysm | Enrichment | ENG, TGFBR3 | 3.38 |
| 19 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.20 |
| 20 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 3.20 |
| 21 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.20 |
| 22 | Adams-oliver syndrome | Enrichment | DLL4, NOTCH1 | 3.06 |
| 23 | Marfan syndrome | Enrichment | TGFB2, TGFBR1 | 2.73 |
| 24 | Stroke, ischemic | Enrichment | NOS3, NOTCH3 | 2.73 |
| 25 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | PLN, TGFB3 | 2.43 |
| 26 | Hydrocephalus | Enrichment | FGFR2, PDGFRB | 2.37 |
| 27 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.37 |
| 28 | Gliosarcoma | Enrichment | FGFR1, FGFR3 | 2.32 |
| 29 | Microform holoprosencephaly | Enrichment | CRIPTO, FGFR1 | 2.32 |
| 30 | Lobar holoprosencephaly | Enrichment | CRIPTO, FGFR1 | 2.32 |
| 31 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3 | 2.27 |
| 32 | Myeloma, multiple | Enrichment | CREBBP, FGFR3, MST1R | 2.23 |
| 33 | Semilobar holoprosencephaly | Enrichment | CRIPTO, FGFR1 | 2.22 |
| 34 | Hypochondroplasia | Enrichment | FGFR3 | 2.18 |
| 35 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.18 |
| 36 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.18 |
| 37 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.18 |
| 38 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.18 |
| 39 | Von willebrand disease, type 1 | Enrichment | VWF | 2.18 |
| 40 | Muenke syndrome | Enrichment | FGFR3 | 2.18 |
| 41 | Premature aging syndrome, penttinen type | Enrichment | PDGFRB | 2.18 |
| 42 | Hypereosinophilic syndrome, idiopathic | Enrichment | PDGFRA | 2.18 |
| 43 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.18 |
| 44 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.18 |
| 45 | Apert syndrome | Enrichment | FGFR2 | 2.18 |
| 46 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 2.18 |
| 47 | Alagille syndrome 2 | Enrichment | NOTCH2 | 2.18 |
| 48 | Lateral meningocele syndrome | Enrichment | NOTCH3 | 2.18 |
| 49 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.18 |
| 50 | Von willebrand disease, type 2 | Enrichment | VWF | 2.18 |
| 51 | Myofibromatosis, infantile, 1 | Enrichment | PDGFRB | 2.18 |
| 52 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.18 |
| 53 | Deafness, autosomal dominant 56 | Enrichment | TNC | 2.18 |
| 54 | Gist-plus syndrome | Enrichment | PDGFRA | 2.18 |
| 55 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.18 |
| 56 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.18 |
| 57 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.18 |
| 58 | Adams-oliver syndrome 6 | Enrichment | DLL4 | 2.18 |
| 59 | Venous malformations, multiple cutaneous and mucosal | Enrichment | TEK | 2.18 |
| 60 | Von willebrand disease, type 3 | Enrichment | VWF | 2.18 |
| 61 | Craniofrontonasal syndrome | Enrichment | EFNB1 | 2.18 |
| 62 | Hereditary lymphedema id | Enrichment | VEGFC | 2.18 |
| 63 | Hemoglobin, high altitude adaptation | Enrichment | EGLN1 | 2.18 |
| 64 | Myeloid and lymphoid neoplasms associated with pdgfra rearrangement | Enrichment | PDGFRA | 2.18 |
| 65 | Lymphatic malformation 4 | Enrichment | VEGFC | 2.18 |
| 66 | Prostate cancer/brain cancer susceptibility | Enrichment | EPHB2 | 2.18 |
| 67 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.18 |
| 68 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.18 |
| 69 | Coronary heart disease 6 | Enrichment | MMP3 | 2.18 |
| 70 | Basal ganglia calcification, idiopathic, 4 | Enrichment | PDGFRB | 2.18 |
| 71 | Myofibromatosis, infantile, 2 | Enrichment | NOTCH3 | 2.18 |
| 72 | Nasopharyngeal carcinoma 3 | Enrichment | MST1R | 2.18 |
| 73 | Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement | Enrichment | PDGFRB | 2.18 |
| 74 | Choanal atresia and lymphedema | Enrichment | PTPN14 | 2.18 |
| 75 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.18 |
| 76 | Kosaki overgrowth syndrome | Enrichment | PDGFRB | 2.18 |
| 77 | Heme oxygenase 1 deficiency | Enrichment | HMOX1 | 2.18 |
| 78 | Hartsfield syndrome | Enrichment | FGFR1 | 2.18 |
| 79 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.18 |
| 80 | Loeys-dietz syndrome 5 | Enrichment | TGFB3 | 2.18 |
| 81 | Bleeding disorder, platelet-type, 22 | Enrichment | EPHB2 | 2.18 |
| 82 | Glaucoma 3, primary congenital, e | Enrichment | TEK | 2.18 |
| 83 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.18 |
| 84 | Von willebrand's disease | Enrichment | VWF | 2.18 |
| 85 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.18 |
| 86 | Ocular pterygium-digital keloid dysplasia syndrome | Enrichment | PDGFRB | 2.18 |
| 87 | Tufted angioma of skin | Enrichment | KDR | 2.18 |
| 88 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.18 |
| 89 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.18 |
| 90 | Bockenheimer syndrome | Enrichment | TEK | 2.18 |
| 91 | Transient cerebral ischemia | Enrichment | NOTCH3 | 2.18 |
| 92 | Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 | Enrichment | NOTCH3 | 2.18 |
| 93 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.18 |
| 94 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.18 |
| 95 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 2.18 |
| 96 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.18 |
| 97 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.18 |
| 98 | Lymphedema-posterior choanal atresia syndrome | Enrichment | PTPN14 | 2.18 |
| 99 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.18 |
| 100 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.18 |
| 101 | Arteriovenous malformations of the brain | Enrichment | ENG, TIMP3 | 2.17 |
| 102 | Craniosynostosis | Enrichment | FGFR2, FGFR3 | 2.13 |
| 103 | Tooth agenesis | Enrichment | FGFR1, TGFA | 2.04 |
| 104 | Lymphatic malformation 1 | Enrichment | FLT4 | 1.88 |
| 105 | Blue rubber bleb nevus | Enrichment | TEK | 1.88 |
| 106 | Sorsby fundus dystrophy | Enrichment | TIMP3 | 1.88 |
| 107 | Myeloproliferative disorder, chronic, with eosinophilia | Enrichment | PDGFRB | 1.88 |
| 108 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.88 |
| 109 | Metaphyseal dysplasia, spahr type | Enrichment | MMP13 | 1.88 |
| 110 | Thumb deformity | Enrichment | CREBBP | 1.88 |
| 111 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 1.88 |
| 112 | Spondyloepimetaphyseal dysplasia, missouri type | Enrichment | MMP13 | 1.88 |
| 113 | Cervical cancer | Enrichment | FGFR3 | 1.88 |
| 114 | Pulmonary arteriovenous fistulas | Enrichment | ENG | 1.88 |
| 115 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1 | 1.88 |
| 116 | Tubulointerstitial kidney disease, autosomal dominant 4 | Enrichment | REN | 1.88 |
| 117 | Aural atresia, congenital | Enrichment | FGFR2 | 1.88 |
| 118 | Cardiomyopathy, dilated, 1p | Enrichment | PLN | 1.88 |
| 119 | Keratosis, seborrheic | Enrichment | FGFR3 | 1.88 |
| 120 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.88 |
| 121 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.88 |
| 122 | Angioma, tufted | Enrichment | KDR | 1.88 |
| 123 | Cardiomyopathy, familial hypertrophic, 18 | Enrichment | PLN | 1.88 |
| 124 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.88 |
| 125 | Charcot-marie-tooth disease, demyelinating, type 4d | Enrichment | NDRG1 | 1.88 |
| 126 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.88 |
| 127 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.88 |
| 128 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 1.88 |
| 129 | Split hand-foot malformation | Enrichment | FGFR2 | 1.88 |
| 130 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.88 |
| 131 | Lipodystrophy, familial partial, type 1 | Enrichment | NOTCH3 | 1.88 |
| 132 | Erythrocytosis, familial, 3 | Enrichment | EGLN1 | 1.88 |
| 133 | Depressive disorder | Enrichment | NOTCH3 | 1.88 |
| 134 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.88 |
| 135 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 1.88 |
| 136 | Cervix carcinoma | Enrichment | FGFR3 | 1.88 |
| 137 | Hereditary lymphedema i | Enrichment | FLT4 | 1.88 |
| 138 | Hereditary mixed polyposis syndrome | Enrichment | GREM1 | 1.88 |
| 139 | Lymphatic malformation 10 | Enrichment | ANGPT2 | 1.88 |
| 140 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.88 |
| 141 | Charcot-marie-tooth disease type 4d | Enrichment | NDRG1 | 1.88 |
| 142 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.88 |
| 143 | Chronic eosinophilic leukemia | Enrichment | PDGFRA | 1.88 |
| 144 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | Enrichment | PDGFRA | 1.88 |
| 145 | Non-immune hydrops fetalis | Enrichment | ANGPT2, FLT4 | 1.76 |
| 146 | Cystic fibrosis | Enrichment | HMOX1, TGFB1 | 1.73 |
| 147 | Connective tissue disease | Enrichment | FGFR3, NOTCH1 | 1.73 |
| 148 | Colorectal cancer | Enrichment | EP300, FGFR2, FGFR3 | 1.71 |
| 149 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.71 |
| 150 | Achondroplasia | Enrichment | FGFR3 | 1.71 |
| 151 | Jacobsen syndrome | Enrichment | ETS1 | 1.71 |
| 152 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.71 |
| 153 | Larsen syndrome | Enrichment | FGFR3 | 1.71 |
| 154 | Alagille syndrome 1 | Enrichment | JAG1 | 1.71 |
| 155 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.71 |
| 156 | Periventricular nodular heterotopia 1 | Enrichment | VWF | 1.71 |
| 157 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.71 |
| 158 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.71 |
| 159 | Epidermolysis bullosa, junctional 6, with pyloric atresia | Enrichment | ITGA6 | 1.71 |
| 160 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.71 |
| 161 | Intrinsic cardiomyopathy | Enrichment | PLN | 1.71 |
| 162 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1 | 1.71 |
| 163 | Hamartoma | Enrichment | FGFR3 | 1.71 |
| 164 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.71 |
| 165 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.71 |
| 166 | Migraine without aura | Enrichment | NOTCH3 | 1.71 |
| 167 | Spermatocytoma | Enrichment | FGFR3 | 1.71 |
| 168 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.71 |
| 169 | Enchondromatosis | Enrichment | HIF1A | 1.71 |
| 170 | Testicular cancer | Enrichment | FGFR3 | 1.71 |
| 171 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | GREM1 | 1.59 |
| 172 | Glaucoma 3, primary infantile, b | Enrichment | TEK | 1.59 |
| 173 | Cerebrovascular disease | Enrichment | NOTCH3 | 1.59 |
| 174 | Aortic aneurysm | Enrichment | TGFBR1 | 1.59 |
| 175 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.59 |
| 176 | Glioma | Enrichment | FGFR2 | 1.59 |
| 177 | Middle aortic syndrome | Enrichment | JAG1 | 1.59 |
| 178 | Systemic lupus erythematosus | Enrichment | ENG, ETS1 | 1.57 |
| 179 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.49 |
| 180 | Enchondromatosis, multiple, ollier type | Enrichment | HIF1A | 1.49 |
| 181 | Alzheimer disease 2 | Enrichment | NOS3 | 1.49 |
| 182 | Arrhythmogenic right ventricular dysplasia, familial, 1 | Enrichment | TGFB3 | 1.49 |
| 183 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | NOTCH3 | 1.49 |
| 184 | Microcephaly 1, primary, autosomal recessive | Enrichment | ANGPT2 | 1.49 |
| 185 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.49 |
| 186 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.49 |
| 187 | Cardiac arrest | Enrichment | PLN | 1.49 |
| 188 | Holoprosencephaly | Enrichment | FGFR1 | 1.49 |
| 189 | Epidermolysis bullosa | Enrichment | ITGA6 | 1.49 |
| 190 | Arrhythmogenic right ventricular dysplasia 1 | Enrichment | TGFB3 | 1.49 |
| 191 | Aplasia cutis congenita | Enrichment | DLL4 | 1.49 |
| 192 | Vascular dementia | Enrichment | NOTCH3 | 1.49 |
| 193 | Aniridia | Enrichment | EPHA2 | 1.49 |
| 194 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | ENG | 1.49 |
| 195 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.41 |
| 196 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | ENG | 1.41 |
| 197 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.41 |
| 198 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.41 |
| 199 | Epidermolysis bullosa, junctional 5b, with pyloric atresia | Enrichment | ITGA6 | 1.41 |
| 200 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.41 |
| 201 | Renal tubular dysgenesis | Enrichment | REN | 1.41 |
| 202 | Mitochondrial dna depletion syndrome 1 | Enrichment | TYMP | 1.41 |
| 203 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.41 |
| 204 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.41 |
| 205 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.41 |
| 206 | Lung squamous cell carcinoma | Enrichment | FGFR3 | 1.41 |
| 207 | Hypertrichosis | Enrichment | CREBBP | 1.41 |
| 208 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.41 |
| 209 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.41 |
| 210 | Autosomal dominant secondary polycythemia | Enrichment | EGLN1 | 1.41 |
| 211 | Thrombocytopenia | Enrichment | ITGB3, VWF | 1.40 |
| 212 | Nevus, epidermal | Enrichment | FGFR3 | 1.35 |
| 213 | Glaucoma 3, primary congenital, a | Enrichment | TEK | 1.35 |
| 214 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.35 |
| 215 | Gastrointestinal stromal tumor | Enrichment | PDGFRA | 1.35 |
| 216 | Multiple enchondromatosis, maffucci type | Enrichment | HIF1A | 1.35 |
| 217 | Hereditary hemorrhagic telangiectasia | Enrichment | ENG | 1.35 |
| 218 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.35 |
| 219 | Hypertelorism | Enrichment | EFNB1, FGFR2 | 1.34 |
| 220 | Basal ganglia calcification, idiopathic, 1 | Enrichment | PDGFRB | 1.29 |
| 221 | Mitochondrial dna depletion syndrome 4b | Enrichment | TYMP | 1.29 |
| 222 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.29 |
| 223 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 1.29 |
| 224 | Charge syndrome | Enrichment | EP300 | 1.24 |
| 225 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | PLN | 1.24 |
| 226 | Arteriovenous malformation | Enrichment | TEK | 1.24 |
| 227 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.24 |
| 228 | Junctional epidermolysis bullosa | Enrichment | ITGA6 | 1.24 |
| 229 | Ventricular septal defect | Enrichment | TEK | 1.24 |
| 230 | Mitochondrial neurogastrointestinal encephalomyopathy | Enrichment | TYMP | 1.24 |
| 231 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.20 |
| 232 | Myopathy, x-linked, with excessive autophagy | Enrichment | TEK | 1.20 |
| 233 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.20 |
| 234 | Familial colorectal cancer | Enrichment | GREM1 | 1.20 |
| 235 | Primary bone dysplasia | Enrichment | FGFR3 | 1.20 |
| 236 | Migraine with or without aura 1 | Enrichment | NOTCH3 | 1.16 |
| 237 | Pectus excavatum | Enrichment | TGFBR1 | 1.16 |
| 238 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.16 |
| 239 | Heritable pulmonary arterial hypertension | Enrichment | ENG | 1.16 |
| 240 | Cardiac conduction defect | Enrichment | PLN | 1.12 |
| 241 | Septooptic dysplasia | Enrichment | FGFR1 | 1.12 |
| 242 | Renal hypodysplasia/aplasia 3 | Enrichment | FGFR3 | 1.12 |
| 243 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | TGFB3 | 1.12 |
| 244 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | TGFB3 | 1.12 |
| 245 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.09 |
| 246 | Neural tube defects | Enrichment | ITGB1 | 1.09 |
| 247 | Pulmonary hypertension, primary, 1 | Enrichment | ENG | 1.09 |
| 248 | Pulmonary disease, chronic obstructive | Enrichment | HMOX1 | 1.09 |
| 249 | Chromosome 1p36 deletion syndrome | Enrichment | PDPN | 1.09 |
| 250 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.06 |
| 251 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.06 |
| 252 | Heart disease | Enrichment | CREBBP | 1.06 |
| 253 | Cataract | Enrichment | EPHA2 | 1.06 |
| 254 | Cleft lip/palate | Enrichment | PDGFRA | 1.06 |
| 255 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.03 |
| 256 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.03 |
| 257 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.03 |
| 258 | Septopreoptic holoprosencephaly | Enrichment | CRIPTO | 1.03 |
| 259 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.03 |
| 260 | Midline interhemispheric variant of holoprosencephaly | Enrichment | CRIPTO | 1.03 |
| 261 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 0.97 |
| 262 | Hypertension, essential | Enrichment | NOS3 | 0.97 |
| 263 | Dandy-walker syndrome | Enrichment | PDGFRB | 0.97 |
| 264 | Sudden infant death syndrome | Enrichment | PLN | 0.97 |
| 265 | Cataract 44 | Enrichment | EPHA2 | 0.97 |
| 266 | Alobar holoprosencephaly | Enrichment | CRIPTO | 0.97 |
| 267 | Heart, malformation of | Enrichment | JAG1 | 0.95 |
| 268 | Human immunodeficiency virus type 1 | Enrichment | CCL2 | 0.95 |
| 269 | Charcot-marie-tooth disease type 4 | Enrichment | NDRG1 | 0.95 |
| 270 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 0.95 |
| 271 | Early-onset nuclear cataract | Enrichment | EPHA2 | 0.95 |
| 272 | Diffuse large b-cell lymphoma | Enrichment | CREBBP | 0.93 |
| 273 | Ehlers-danlos syndrome | Enrichment | TGFB2 | 0.93 |
| 274 | Endometrial cancer | Enrichment | FGFR2 | 0.89 |
| 275 | Myocardial infarction | Enrichment | ITGB3 | 0.87 |
| 276 | Kallmann syndrome | Enrichment | FGFR1 | 0.85 |
| 277 | Scoliosis | Enrichment | CREBBP | 0.83 |
| 278 | Congenital nervous system abnormality | Enrichment | CREBBP, FGFR3 | 0.81 |
| 279 | Nervous system disease | Enrichment | CREBBP, FGFR3 | 0.81 |
| 280 | Hydrops fetalis, nonimmune | Enrichment | FLT4 | 0.80 |
| 281 | Auditory neuropathy | Enrichment | NOTCH3 | 0.80 |
| 282 | Bladder cancer | Enrichment | FGFR3 | 0.76 |
| 283 | Prostate cancer | Enrichment | EPHB2 | 0.76 |
| 284 | Severe covid-19 | Enrichment | ITGAV | 0.76 |
| 285 | Primary autosomal recessive microcephaly | Enrichment | ANGPT2 | 0.72 |
| 286 | Cerebral palsy | Enrichment | PDGFRB | 0.64 |
| 287 | Charcot-marie-tooth disease | Enrichment | NDRG1 | 0.63 |
| 288 | Gastric cancer | Enrichment | FGFR2 | 0.61 |
| 289 | Hypertrophic cardiomyopathy | Enrichment | PLN | 0.61 |
| 290 | Sensorineural hearing loss | Enrichment | HGF | 0.57 |
| 291 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TNC | 0.54 |
| 292 | Familial isolated dilated cardiomyopathy | Enrichment | PLN | 0.53 |
| 293 | Autism | Enrichment | CREBBP | 0.42 |
| 294 | Dilated cardiomyopathy | Enrichment | PLN | 0.39 |
| 295 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF | 0.35 |
| 296 | Ovarian cancer | Enrichment | PDGFRA | 0.31 |
| 297 | Microcephaly | Enrichment | EP300 | 0.25 |
| 298 | Hereditary retinal dystrophy | Enrichment | JAG1, TIMP3 | 0.24 |
| 299 | Fundus dystrophy | Enrichment | JAG1, TIMP3 | 0.24 |
| 300 | Inherited cancer-predisposing syndrome | Enrichment | PDGFRA | 0.23 |