| 1 | Keratoacanthoma | Enrichment | NOTCH1, NOTCH2, PIK3CA | 7.02 |
| 2 | Colorectal cancer | Enrichment | CTNNB1, FGFR2, FGFR3, PIK3CA, PPARG, SMAD4, SOX9 | 6.84 |
| 3 | Microform holoprosencephaly | Enrichment | DLL1, FGFR1, GLI2, PTCH1 | 6.13 |
| 4 | Lobar holoprosencephaly | Enrichment | DLL1, FGFR1, GLI2, PTCH1 | 6.13 |
| 5 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4, LRP5 | 6.02 |
| 6 | Semilobar holoprosencephaly | Enrichment | DLL1, FGFR1, GLI2, PTCH1 | 5.91 |
| 7 | Craniosynostosis | Enrichment | FGFR2, FGFR3, GLI2, GLI3 | 5.71 |
| 8 | Adams-oliver syndrome | Enrichment | DLL4, NOTCH1, RBPJ | 5.48 |
| 9 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA, SMAD4 | 5.48 |
| 10 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4, LRP5 | 5.28 |
| 11 | Keratosis, seborrheic | Enrichment | FGFR3, PIK3CA | 4.67 |
| 12 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.67 |
| 13 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.67 |
| 14 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 4.67 |
| 15 | Septopreoptic holoprosencephaly | Enrichment | DLL1, GLI2, PTCH1 | 4.38 |
| 16 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1, GLI2, PTCH1 | 4.38 |
| 17 | Gliosarcoma | Enrichment | FGFR1, FGFR3, PPARG | 4.29 |
| 18 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 4.21 |
| 19 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3, PPARG | 4.21 |
| 20 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 4.21 |
| 21 | Alobar holoprosencephaly | Enrichment | DLL1, GLI2, PTCH1 | 4.21 |
| 22 | Brachydactyly, type a1 | Enrichment | BMPR1B, IHH | 4.20 |
| 23 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 4.20 |
| 24 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 4.20 |
| 25 | Juvenile polyposis syndrome | Enrichment | BMPR1A, SMAD4 | 4.20 |
| 26 | Pulmonary arterial hypertension associated with congenital heart disease | Enrichment | BMPR2, SMAD9 | 4.20 |
| 27 | Hepatoblastoma | Enrichment | CTNNB1, FGFR3, JAG1 | 3.92 |
| 28 | Brachydactyly, type a2 | Enrichment | BMP2, BMPR1B | 3.90 |
| 29 | Robinow syndrome, autosomal dominant 1 | Enrichment | FZD2, WNT5A | 3.90 |
| 30 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3 | 3.90 |
| 31 | Retinopathy of prematurity | Enrichment | FZD4, LRP5 | 3.90 |
| 32 | Cerebrovascular disease | Enrichment | NOTCH3, PIK3CA | 3.90 |
| 33 | Autosomal dominant robinow syndrome | Enrichment | FZD2, WNT5A | 3.90 |
| 34 | Tooth agenesis | Enrichment | FGFR1, LRP6, WNT10B | 3.86 |
| 35 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.68 |
| 36 | Robinow syndrome, autosomal recessive 1 | Enrichment | FZD2, WNT5A | 3.68 |
| 37 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | BMPR1A, SMAD4 | 3.68 |
| 38 | Tetralogy of fallot | Enrichment | HEY2, JAG1, NOTCH1 | 3.64 |
| 39 | Autosomal recessive robinow syndrome | Enrichment | FZD2, WNT5A | 3.50 |
| 40 | Lung squamous cell carcinoma | Enrichment | FGFR3, PIK3CA | 3.50 |
| 41 | Bladder cancer | Enrichment | CTNNB1, FGFR3, PIK3CA | 3.49 |
| 42 | Hirschsprung disease 1 | Enrichment | GLI3, IHH, SMO | 3.49 |
| 43 | Connective tissue disease | Enrichment | FGFR3, NOTCH1, SOX9 | 3.37 |
| 44 | Nevus, epidermal | Enrichment | FGFR3, PIK3CA | 3.36 |
| 45 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 3.13 |
| 46 | Gastric cancer | Enrichment | FGFR2, PIK3CA, SMAD4 | 2.99 |
| 47 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | HEY2, NOTCH1, SMAD4 | 2.96 |
| 48 | Heritable pulmonary arterial hypertension | Enrichment | BMPR2, SMAD9 | 2.94 |
| 49 | Ovarian cancer | Enrichment | BMPR1A, CTNNB1, PIK3CA, PTCH1 | 2.91 |
| 50 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4, FGFR3 | 2.87 |
| 51 | Meningioma | Enrichment | PIK3CA, SMO | 2.87 |
| 52 | Osteoporosis | Enrichment | LRP5, WNT1 | 2.73 |
| 53 | Medulloblastoma | Enrichment | CTNNB1, PTCH1 | 2.73 |
| 54 | Polydactyly, postaxial, type a1 | Enrichment | GLI3, PTCH1 | 2.67 |
| 55 | Endometrial cancer | Enrichment | FGFR2, PIK3CA | 2.38 |
| 56 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.34 |
| 57 | Pallister-hall syndrome | Enrichment | GLI3 | 2.33 |
| 58 | Hypochondroplasia | Enrichment | FGFR3 | 2.33 |
| 59 | Macrodactyly | Enrichment | PIK3CA | 2.33 |
| 60 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.33 |
| 61 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.33 |
| 62 | Greig cephalopolysyndactyly syndrome | Enrichment | GLI3 | 2.33 |
| 63 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 2.33 |
| 64 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.33 |
| 65 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.33 |
| 66 | Muenke syndrome | Enrichment | FGFR3 | 2.33 |
| 67 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 2.33 |
| 68 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 2.33 |
| 69 | Curry-jones syndrome | Enrichment | SMO | 2.33 |
| 70 | Schilbach-rott syndrome | Enrichment | PTCH1 | 2.33 |
| 71 | Polydactyly, preaxial iv | Enrichment | GLI3 | 2.33 |
| 72 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.33 |
| 73 | Polyposis syndrome, hereditary mixed, 2 | Enrichment | BMPR1A | 2.33 |
| 74 | Acromesomelic dysplasia 3 | Enrichment | BMPR1B | 2.33 |
| 75 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.33 |
| 76 | Omodysplasia 2 | Enrichment | FZD2 | 2.33 |
| 77 | Apert syndrome | Enrichment | FGFR2 | 2.33 |
| 78 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 2.33 |
| 79 | Alagille syndrome 2 | Enrichment | NOTCH2 | 2.33 |
| 80 | Lateral meningocele syndrome | Enrichment | NOTCH3 | 2.33 |
| 81 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.33 |
| 82 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.33 |
| 83 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 2.33 |
| 84 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.33 |
| 85 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.33 |
| 86 | Brachydactyly, type a1, d | Enrichment | BMPR1B | 2.33 |
| 87 | Culler-jones syndrome | Enrichment | GLI2 | 2.33 |
| 88 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.33 |
| 89 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.33 |
| 90 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.33 |
| 91 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 2.33 |
| 92 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.33 |
| 93 | Charcot-marie-tooth disease, axonal, type 2hh | Enrichment | JAG1 | 2.33 |
| 94 | 46,xy sex reversal 10 | Enrichment | SOX9 | 2.33 |
| 95 | Adams-oliver syndrome 6 | Enrichment | DLL4 | 2.33 |
| 96 | 46,xx sex reversal 2 | Enrichment | SOX9 | 2.33 |
| 97 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.33 |
| 98 | Orofacial cleft 11 | Enrichment | BMP4 | 2.33 |
| 99 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 2.33 |
| 100 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 2.33 |
| 101 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.33 |
| 102 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.33 |
| 103 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.33 |
| 104 | Acrocapitofemoral dysplasia | Enrichment | IHH | 2.33 |
| 105 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.33 |
| 106 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 2.33 |
| 107 | Santos syndrome | Enrichment | WNT7A | 2.33 |
| 108 | Holoprosencephaly 9 | Enrichment | GLI2 | 2.33 |
| 109 | Multiple synostoses syndrome 3 | Enrichment | FGF9 | 2.33 |
| 110 | Immunodeficiency 31a | Enrichment | STAT1 | 2.33 |
| 111 | Pulmonary hypertension, primary, 2 | Enrichment | SMAD9 | 2.33 |
| 112 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.33 |
| 113 | Myofibromatosis, infantile, 2 | Enrichment | NOTCH3 | 2.33 |
| 114 | Immunodeficiency 31b | Enrichment | STAT1 | 2.33 |
| 115 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.33 |
| 116 | Hartsfield syndrome | Enrichment | FGFR1 | 2.33 |
| 117 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.33 |
| 118 | Muscular dystrophy, limb-girdle, autosomal recessive 27 | Enrichment | JAG2 | 2.33 |
| 119 | Deafness, congenital heart defects, and posterior embryotoxon | Enrichment | JAG1 | 2.33 |
| 120 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.33 |
| 121 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.33 |
| 122 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.33 |
| 123 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.33 |
| 124 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.33 |
| 125 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.33 |
| 126 | Hypospadias | Enrichment | PIK3CA | 2.33 |
| 127 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 2.33 |
| 128 | Transient cerebral ischemia | Enrichment | NOTCH3 | 2.33 |
| 129 | Primary pulmonary hypertension | Enrichment | BMPR2 | 2.33 |
| 130 | Rare venous malformation | Enrichment | PIK3CA | 2.33 |
| 131 | Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 | Enrichment | NOTCH3 | 2.33 |
| 132 | Pulmonary hypertension | Enrichment | BMPR2 | 2.33 |
| 133 | Turner syndrome | Enrichment | PTCH1 | 2.33 |
| 134 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.33 |
| 135 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.33 |
| 136 | Drug- or toxin-induced pulmonary arterial hypertension | Enrichment | BMPR2 | 2.33 |
| 137 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.33 |
| 138 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.33 |
| 139 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.33 |
| 140 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.33 |
| 141 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.33 |
| 142 | Monosomy 9q22.3 | Enrichment | PTCH1 | 2.33 |
| 143 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 2.33 |
| 144 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | Enrichment | GLI2 | 2.33 |
| 145 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.33 |
| 146 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.33 |
| 147 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.33 |
| 148 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.33 |
| 149 | Macrodactyly of toe | Enrichment | PIK3CA | 2.33 |
| 150 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.33 |
| 151 | Brittle bone disorder | Enrichment | LRP5, WNT1 | 2.30 |
| 152 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.03 |
| 153 | Myhre syndrome | Enrichment | SMAD4 | 2.03 |
| 154 | Campomelic dysplasia | Enrichment | SOX9 | 2.03 |
| 155 | Otodental dysplasia | Enrichment | FGF3 | 2.03 |
| 156 | Van buchem disease | Enrichment | LRP5 | 2.03 |
| 157 | Pallister-hall-like syndrome | Enrichment | SMO | 2.03 |
| 158 | Pulmonary venoocclusive disease 1, autosomal dominant | Enrichment | BMPR2 | 2.03 |
| 159 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 2.03 |
| 160 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 2.03 |
| 161 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.03 |
| 162 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 2.03 |
| 163 | Cervical cancer | Enrichment | FGFR3 | 2.03 |
| 164 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 2.03 |
| 165 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 2.03 |
| 166 | Aural atresia, congenital | Enrichment | FGFR2 | 2.03 |
| 167 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 2.03 |
| 168 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | Enrichment | FGF3 | 2.03 |
| 169 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 2.03 |
| 170 | Fibrodysplasia ossificans progressiva | Enrichment | BMPR2 | 2.03 |
| 171 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 2.03 |
| 172 | White-sutton syndrome | Enrichment | GLI2 | 2.03 |
| 173 | Robinow syndrome, autosomal dominant 3 | Enrichment | FZD2 | 2.03 |
| 174 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.03 |
| 175 | Spermatogenic failure 17 | Enrichment | PIK3C2G | 2.03 |
| 176 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 2.03 |
| 177 | Adams-oliver syndrome 3 | Enrichment | RBPJ | 2.03 |
| 178 | Immunodeficiency 31c | Enrichment | STAT1 | 2.03 |
| 179 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 2.03 |
| 180 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 2.03 |
| 181 | Infantile myofibromatosis | Enrichment | NOTCH3 | 2.03 |
| 182 | Pulmonary venoocclusive disease 1 | Enrichment | BMPR2 | 2.03 |
| 183 | Tibial hemimelia | Enrichment | GLI3 | 2.03 |
| 184 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.03 |
| 185 | Split hand-foot malformation | Enrichment | FGFR2 | 2.03 |
| 186 | Synpolydactyly | Enrichment | GLI3 | 2.03 |
| 187 | Lipodystrophy, familial partial, type 1 | Enrichment | NOTCH3 | 2.03 |
| 188 | Depressive disorder | Enrichment | NOTCH3 | 2.03 |
| 189 | Cervix carcinoma | Enrichment | FGFR3 | 2.03 |
| 190 | Craniosynostosis 7 | Enrichment | BMP2 | 2.03 |
| 191 | Hereditary mixed polyposis syndrome | Enrichment | BMPR1A | 2.03 |
| 192 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.03 |
| 193 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.03 |
| 194 | Postaxial polydactyly type b | Enrichment | GLI3 | 2.03 |
| 195 | Familial partial lipodystrophy | Enrichment | PPARG | 2.03 |
| 196 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 2.03 |
| 197 | Pulmonary venoocclusive disease | Enrichment | BMPR2 | 2.03 |
| 198 | Teratoma | Enrichment | CTNNB1 | 2.03 |
| 199 | Osteosclerosis | Enrichment | LRP5 | 2.03 |
| 200 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 2.03 |
| 201 | Juvenile polyposis of infancy | Enrichment | BMPR1A | 2.03 |
| 202 | Oculootodental syndrome | Enrichment | FGF3 | 2.03 |
| 203 | Idiopathic/heritable pulmonary arterial hypertension | Enrichment | BMPR2 | 2.03 |
| 204 | Campomelic dysplasia and related disorders | Enrichment | SOX9 | 2.03 |
| 205 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.86 |
| 206 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.86 |
| 207 | Achondroplasia | Enrichment | FGFR3 | 1.86 |
| 208 | Brachydactyly, type c | Enrichment | BMPR1B | 1.86 |
| 209 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.86 |
| 210 | Larsen syndrome | Enrichment | FGFR3 | 1.86 |
| 211 | Alagille syndrome 1 | Enrichment | JAG1 | 1.86 |
| 212 | Acromesomelic dysplasia 2a | Enrichment | BMPR1B | 1.86 |
| 213 | Acromesomelic dysplasia 2c | Enrichment | BMPR1B | 1.86 |
| 214 | Acromesomelic dysplasia 2b | Enrichment | BMPR1B | 1.86 |
| 215 | Acrocallosal syndrome | Enrichment | GLI3 | 1.86 |
| 216 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.86 |
| 217 | Aarskog-scott syndrome | Enrichment | GLI3 | 1.86 |
| 218 | 46,xx sex reversal 1 | Enrichment | SOX9 | 1.86 |
| 219 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.86 |
| 220 | Osteoporosis, juvenile | Enrichment | WNT1 | 1.86 |
| 221 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.86 |
| 222 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.86 |
| 223 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.86 |
| 224 | Holoprosencephaly 7 | Enrichment | PTCH1 | 1.86 |
| 225 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.86 |
| 226 | Anus, imperforate | Enrichment | CTNNB1 | 1.86 |
| 227 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.86 |
| 228 | Umbilical hernia | Enrichment | GLI3 | 1.86 |
| 229 | Desmoid tumor | Enrichment | CTNNB1 | 1.86 |
| 230 | Hamartoma | Enrichment | FGFR3 | 1.86 |
| 231 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.86 |
| 232 | Leukodystrophy and acquired microcephaly with or without dystonia | Enrichment | DLL3 | 1.86 |
| 233 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.86 |
| 234 | Migraine without aura | Enrichment | NOTCH3 | 1.86 |
| 235 | Spermatocytoma | Enrichment | FGFR3 | 1.86 |
| 236 | Tetraamelia syndrome | Enrichment | WNT3 | 1.86 |
| 237 | Testicular cancer | Enrichment | FGFR3 | 1.86 |
| 238 | Type 2 diabetes mellitus | Enrichment | PPARG, RBPJ | 1.79 |
| 239 | Polydactyly, preaxial ii | Enrichment | PTCH1 | 1.73 |
| 240 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.73 |
| 241 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.73 |
| 242 | Pilomatrixoma | Enrichment | CTNNB1 | 1.73 |
| 243 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.73 |
| 244 | Alazami syndrome | Enrichment | CTNNB1 | 1.73 |
| 245 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.73 |
| 246 | Multiple synostoses syndrome | Enrichment | FGF9 | 1.73 |
| 247 | Orofacial cleft | Enrichment | LRP6 | 1.73 |
| 248 | Craniopharyngioma | Enrichment | CTNNB1 | 1.73 |
| 249 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.73 |
| 250 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3 | 1.73 |
| 251 | Glioma | Enrichment | FGFR2 | 1.73 |
| 252 | Vitreoretinopathy | Enrichment | LRP5 | 1.73 |
| 253 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.73 |
| 254 | Middle aortic syndrome | Enrichment | JAG1 | 1.73 |
| 255 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.64 |
| 256 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | NOTCH3 | 1.64 |
| 257 | Norrie disease | Enrichment | FZD4 | 1.64 |
| 258 | Ventricular septal defect 1 | Enrichment | BMP2 | 1.64 |
| 259 | Robinow syndrome, autosomal dominant 2 | Enrichment | FZD2 | 1.64 |
| 260 | Holoprosencephaly | Enrichment | FGFR1 | 1.64 |
| 261 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.64 |
| 262 | Nonsyndromic 46,xx testicular disorders/differences of sex development | Enrichment | SOX9 | 1.64 |
| 263 | Aplasia cutis congenita | Enrichment | DLL4 | 1.64 |
| 264 | Vascular dementia | Enrichment | NOTCH3 | 1.64 |
| 265 | Hemimegalencephaly | Enrichment | PIK3CA | 1.64 |
| 266 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.64 |
| 267 | Inherited cancer-predisposing syndrome | Enrichment | BMPR1A, PTCH1, SMAD4 | 1.63 |
| 268 | Hypertelorism | Enrichment | FGFR2, PIK3CA | 1.62 |
| 269 | Atrial septal defect 1 | Enrichment | BMP2 | 1.56 |
| 270 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.56 |
| 271 | Myopathy, centronuclear, 1 | Enrichment | MYOD1 | 1.56 |
| 272 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.56 |
| 273 | Basal cell nevus syndrome 1 | Enrichment | PTCH1 | 1.56 |
| 274 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.56 |
| 275 | Split-hand/foot malformation 1 | Enrichment | FGFR2 | 1.56 |
| 276 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.56 |
| 277 | Pierre robin syndrome | Enrichment | SOX9 | 1.56 |
| 278 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.56 |
| 279 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.56 |
| 280 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.56 |
| 281 | Renal dysplasia, cystic | Enrichment | WNT9B | 1.56 |
| 282 | Basal cell carcinoma 1 | Enrichment | PTCH1 | 1.56 |
| 283 | Renal hypoplasia | Enrichment | WNT9B | 1.56 |
| 284 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.56 |
| 285 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.56 |
| 286 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.56 |
| 287 | Spondylocostal dysostosis, autosomal recessive | Enrichment | DLL3 | 1.56 |
| 288 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.56 |
| 289 | Coats disease | Enrichment | FZD4 | 1.49 |
| 290 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.49 |
| 291 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.49 |
| 292 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.49 |
| 293 | Congenital hydrocephalus | Enrichment | PTCH1 | 1.49 |
| 294 | Overgrowth syndrome | Enrichment | PTCH1 | 1.49 |
| 295 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.44 |
| 296 | Renal hypodysplasia/aplasia 1 | Enrichment | WNT9B | 1.44 |
| 297 | Spondylocostal dysostosis 1, autosomal recessive | Enrichment | DLL3 | 1.44 |
| 298 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.44 |
| 299 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.44 |
| 300 | Combined pituitary hormone deficiency | Enrichment | GLI2 | 1.44 |
| 301 | Tooth agenesis, selective, 1 | Enrichment | BMPR2 | 1.39 |
| 302 | Arteriovenous malformation | Enrichment | PIK3CA | 1.39 |
| 303 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.39 |
| 304 | Cowden syndrome | Enrichment | PIK3CA | 1.39 |
| 305 | Renal agenesis, bilateral | Enrichment | WNT9B | 1.39 |
| 306 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.34 |
| 307 | Peters-plus syndrome | Enrichment | BMP4 | 1.34 |
| 308 | Stroke, ischemic | Enrichment | NOTCH3 | 1.34 |
| 309 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.34 |
| 310 | Stickler syndrome | Enrichment | BMP4 | 1.34 |
| 311 | Primary bone dysplasia | Enrichment | FGFR3 | 1.34 |
| 312 | Migraine with or without aura 1 | Enrichment | NOTCH3 | 1.30 |
| 313 | 46,xy complete gonadal dysgenesis | Enrichment | SOX9 | 1.30 |
| 314 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.30 |
| 315 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.30 |
| 316 | Familial colorectal cancer type x | Enrichment | BMPR1A | 1.30 |
| 317 | Septooptic dysplasia | Enrichment | FGFR1 | 1.26 |
| 318 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.26 |
| 319 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.23 |
| 320 | Diaphragmatic hernia, congenital | Enrichment | GLI3 | 1.23 |
| 321 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.23 |
| 322 | Pulmonary hypertension, primary, 1 | Enrichment | BMPR2 | 1.23 |
| 323 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.23 |
| 324 | Chronic kidney disease | Enrichment | WNT9B | 1.23 |
| 325 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.20 |
| 326 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.20 |
| 327 | Cleft lip/palate | Enrichment | BMP4 | 1.20 |
| 328 | 46,xy partial gonadal dysgenesis | Enrichment | SOX9 | 1.20 |
| 329 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.17 |
| 330 | Hydrocephalus | Enrichment | FGFR2 | 1.17 |
| 331 | Lynch syndrome | Enrichment | PIK3CA | 1.17 |
| 332 | Rhabdomyosarcoma | Enrichment | PTCH1 | 1.14 |
| 333 | Heart, malformation of | Enrichment | JAG1 | 1.09 |
| 334 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.09 |
| 335 | Congenital nervous system abnormality | Enrichment | CTNNB1, FGFR3 | 1.06 |
| 336 | Nervous system disease | Enrichment | CTNNB1, FGFR3 | 1.06 |
| 337 | Macs syndrome | Enrichment | PTCH1 | 1.05 |
| 338 | Microphthalmia | Enrichment | PTCH1 | 1.01 |
| 339 | Kallmann syndrome | Enrichment | FGFR1 | 0.99 |
| 340 | Pancreatic cancer | Enrichment | SMAD4 | 0.96 |
| 341 | Auditory neuropathy | Enrichment | NOTCH3 | 0.94 |
| 342 | Prostate cancer | Enrichment | PIK3CA | 0.90 |
| 343 | Differentiated thyroid carcinoma | Enrichment | PPARG | 0.90 |
| 344 | Lung cancer | Enrichment | PIK3CA | 0.86 |
| 345 | Hereditary retinal dystrophy | Enrichment | FZD4, JAG1, LRP5 | 0.82 |
| 346 | Fundus dystrophy | Enrichment | FZD4, JAG1, LRP5 | 0.82 |
| 347 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.80 |
| 348 | Distal arthrogryposis | Enrichment | MYOD1 | 0.75 |
| 349 | Nephrotic syndrome | Enrichment | RUNX2 | 0.74 |
| 350 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.73 |
| 351 | Thrombocytopenia | Enrichment | SMAD4 | 0.70 |
| 352 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.68 |
| 353 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1 | 0.68 |
| 354 | Hereditary breast ovarian cancer syndrome | Enrichment | PTCH1 | 0.65 |
| 355 | Myeloma, multiple | Enrichment | FGFR3 | 0.64 |
| 356 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | GLI2 | 0.64 |
| 357 | Primary ovarian insufficiency | Enrichment | NOTCH2 | 0.62 |
| 358 | Breast cancer | Enrichment | PIK3CA | 0.53 |
| 359 | Microcephaly | Enrichment | CTNNB1 | 0.36 |