| 1 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1, PIK3CA | 6.09 |
| 2 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1, PIK3CA | 5.33 |
| 3 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.85 |
| 4 | Hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1, PIK3CA | 4.84 |
| 5 | Colorectal cancer | Enrichment | CTNNA1, CTNNB1, PIK3CA, PIK3R1 | 4.42 |
| 6 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, LRP5 | 4.33 |
| 7 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 4.15 |
| 8 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA | 4.01 |
| 9 | Hypertrophic cardiomyopathy | Enrichment | KIF5B, MYL2, PTPN11 | 3.95 |
| 10 | Exudative vitreoretinopathy | Enrichment | CTNNB1, LRP5 | 3.88 |
| 11 | Polycystic liver disease | Enrichment | CTNNB1, LRP5 | 3.20 |
| 12 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5 | 3.20 |
| 13 | Bladder cancer | Enrichment | CTNNB1, PIK3CA | 2.73 |
| 14 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.66 |
| 15 | Macrodactyly | Enrichment | PIK3CA | 2.66 |
| 16 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.66 |
| 17 | Metachondromatosis | Enrichment | PTPN11 | 2.66 |
| 18 | Perry syndrome | Enrichment | DCTN1 | 2.66 |
| 19 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 2.66 |
| 20 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.66 |
| 21 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.66 |
| 22 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 2.66 |
| 23 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 2.66 |
| 24 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.66 |
| 25 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.66 |
| 26 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.66 |
| 27 | Amyloidosis, finnish type | Enrichment | GSN | 2.66 |
| 28 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.66 |
| 29 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.66 |
| 30 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.66 |
| 31 | Neuroocular syndrome 2, paroxysmal type | Enrichment | DAGLA | 2.66 |
| 32 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.66 |
| 33 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.66 |
| 34 | Short syndrome | Enrichment | PIK3R1 | 2.66 |
| 35 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.66 |
| 36 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.66 |
| 37 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.66 |
| 38 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 2.66 |
| 39 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.66 |
| 40 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.66 |
| 41 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 2.66 |
| 42 | Neuronopathy, distal hereditary motor, autosomal dominant 14 | Enrichment | DCTN1 | 2.66 |
| 43 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.66 |
| 44 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.66 |
| 45 | Neurodevelopmental disorder with language impairment and behavioral abnormalities | Enrichment | GRIA2 | 2.66 |
| 46 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.66 |
| 47 | Hartsfield syndrome | Enrichment | FGFR1 | 2.66 |
| 48 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.66 |
| 49 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.66 |
| 50 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.66 |
| 51 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.66 |
| 52 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.66 |
| 53 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.66 |
| 54 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.66 |
| 55 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.66 |
| 56 | Hypospadias | Enrichment | PIK3CA | 2.66 |
| 57 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 2.66 |
| 58 | Rare venous malformation | Enrichment | PIK3CA | 2.66 |
| 59 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.66 |
| 60 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.66 |
| 61 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.66 |
| 62 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.66 |
| 63 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.66 |
| 64 | Gria2-related neurodevelopmental disorder | Enrichment | GRIA2 | 2.66 |
| 65 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 2.66 |
| 66 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.66 |
| 67 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.66 |
| 68 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.66 |
| 69 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.66 |
| 70 | Macrodactyly of toe | Enrichment | PIK3CA | 2.66 |
| 71 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.66 |
| 72 | Malignant astrocytoma | Enrichment | PTPN11 | 2.66 |
| 73 | Blepharocheilodontic syndrome 1 | Enrichment | CTNND1 | 2.35 |
| 74 | Van buchem disease | Enrichment | LRP5 | 2.35 |
| 75 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 2.35 |
| 76 | Lethal congenital contracture syndrome 3 | Enrichment | PIP5K1C | 2.35 |
| 77 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.35 |
| 78 | Pfeiffer syndrome | Enrichment | FGFR1 | 2.35 |
| 79 | Jackson-weiss syndrome | Enrichment | FGFR1 | 2.35 |
| 80 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 2.35 |
| 81 | Hallermann-streiff syndrome | Enrichment | GJA1 | 2.35 |
| 82 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.35 |
| 83 | Syndactyly, type iii | Enrichment | GJA1 | 2.35 |
| 84 | Syndactyly, type v | Enrichment | GJA1 | 2.35 |
| 85 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 2.35 |
| 86 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.35 |
| 87 | Werner syndrome | Enrichment | PTPN11 | 2.35 |
| 88 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 2.35 |
| 89 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 2.35 |
| 90 | Cardiomyopathy, familial hypertrophic, 10 | Enrichment | MYL2 | 2.35 |
| 91 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | Enrichment | MYL2 | 2.35 |
| 92 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 2.35 |
| 93 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 2.35 |
| 94 | Distal hereditary motor neuropathy type 7 | Enrichment | DCTN1 | 2.35 |
| 95 | Teratoma | Enrichment | CTNNB1 | 2.35 |
| 96 | Osteosclerosis | Enrichment | LRP5 | 2.35 |
| 97 | Skeletal muscle disease | Enrichment | KIF5B | 2.35 |
| 98 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 2.18 |
| 99 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 2.18 |
| 100 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.18 |
| 101 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 2.18 |
| 102 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 2.18 |
| 103 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 2.18 |
| 104 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 2.18 |
| 105 | Anus, imperforate | Enrichment | CTNNB1 | 2.18 |
| 106 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 2.18 |
| 107 | Desmoid tumor | Enrichment | CTNNB1 | 2.18 |
| 108 | Immunodeficiency 14 | Enrichment | PIK3R1 | 2.18 |
| 109 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 2.18 |
| 110 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 2.18 |
| 111 | Keratoacanthoma | Enrichment | PIK3CA | 2.18 |
| 112 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CTNNA1 | 2.05 |
| 113 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 2.05 |
| 114 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 2.05 |
| 115 | Pilomatrixoma | Enrichment | CTNNB1 | 2.05 |
| 116 | Alazami syndrome | Enrichment | CTNNB1 | 2.05 |
| 117 | Retinopathy of prematurity | Enrichment | LRP5 | 2.05 |
| 118 | Cerebrovascular disease | Enrichment | PIK3CA | 2.05 |
| 119 | Craniopharyngioma | Enrichment | CTNNB1 | 2.05 |
| 120 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 2.05 |
| 121 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 2.05 |
| 122 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.05 |
| 123 | Vitreoretinopathy | Enrichment | LRP5 | 2.05 |
| 124 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.96 |
| 125 | Kearns-sayre syndrome | Enrichment | KIF5B | 1.96 |
| 126 | Lymphoma | Enrichment | PTPN11 | 1.96 |
| 127 | Holoprosencephaly | Enrichment | FGFR1 | 1.96 |
| 128 | Cleft upper lip | Enrichment | GJA1 | 1.96 |
| 129 | Hemimegalencephaly | Enrichment | PIK3CA | 1.96 |
| 130 | Genetic motor neuron disease | Enrichment | DCTN1 | 1.96 |
| 131 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.96 |
| 132 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.88 |
| 133 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.88 |
| 134 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.88 |
| 135 | Holoprosencephaly 1 | Enrichment | FGFR1 | 1.88 |
| 136 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.88 |
| 137 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.88 |
| 138 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.88 |
| 139 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.88 |
| 140 | Cleft lip with or without cleft palate | Enrichment | CTNND1 | 1.88 |
| 141 | Dilated cardiomyopathy | Enrichment | KIF5B, MYL2 | 1.87 |
| 142 | Nevus, epidermal | Enrichment | PIK3CA | 1.81 |
| 143 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.81 |
| 144 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.81 |
| 145 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.81 |
| 146 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.81 |
| 147 | Familial isolated restrictive cardiomyopathy | Enrichment | MYL2 | 1.81 |
| 148 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 1.76 |
| 149 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 1.76 |
| 150 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.70 |
| 151 | Arteriovenous malformation | Enrichment | PIK3CA | 1.70 |
| 152 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.70 |
| 153 | Cowden syndrome | Enrichment | PIK3CA | 1.70 |
| 154 | Autosomal dominant cerebellar ataxia | Enrichment | DAGLA | 1.70 |
| 155 | Ovarian cancer | Enrichment | CTNNB1, PIK3CA | 1.68 |
| 156 | Amyotrophic lateral sclerosis 1 | Enrichment | DCTN1 | 1.66 |
| 157 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.66 |
| 158 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.66 |
| 159 | Pectus excavatum | Enrichment | PTPN11 | 1.62 |
| 160 | Frontotemporal dementia 1 | Enrichment | DCTN1 | 1.62 |
| 161 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.62 |
| 162 | Specific learning disability | Enrichment | PTPN11 | 1.62 |
| 163 | Epicanthus | Enrichment | PTPN11 | 1.58 |
| 164 | Septooptic dysplasia | Enrichment | FGFR1 | 1.58 |
| 165 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.58 |
| 166 | Meningioma | Enrichment | PIK3CA | 1.58 |
| 167 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.58 |
| 168 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.58 |
| 169 | Microcephaly | Enrichment | CTNNB1, PTPN11 | 1.52 |
| 170 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.52 |
| 171 | Osteoporosis | Enrichment | LRP5 | 1.52 |
| 172 | Medulloblastoma | Enrichment | CTNNB1 | 1.52 |
| 173 | Heart disease | Enrichment | MYL2 | 1.52 |
| 174 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 1.52 |
| 175 | Congenital myopathy 4a, autosomal dominant | Enrichment | MYL2 | 1.49 |
| 176 | Corpus callosum, agenesis of | Enrichment | CDH2 | 1.49 |
| 177 | Lynch syndrome | Enrichment | PIK3CA | 1.49 |
| 178 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 1.49 |
| 179 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 1.49 |
| 180 | Noonan syndrome and noonan-related syndrome | Enrichment | PTPN11 | 1.49 |
| 181 | Inherited cancer-predisposing syndrome | Enrichment | CTNNA1, PTPN11 | 1.47 |
| 182 | Gliosarcoma | Enrichment | FGFR1 | 1.46 |
| 183 | Microform holoprosencephaly | Enrichment | FGFR1 | 1.46 |
| 184 | Lobar holoprosencephaly | Enrichment | FGFR1 | 1.46 |
| 185 | Cardiomyopathy, dilated, 1e | Enrichment | MYL2 | 1.43 |
| 186 | Giant cell glioblastoma | Enrichment | FGFR1 | 1.43 |
| 187 | Patent foramen ovale | Enrichment | PTPN11 | 1.41 |
| 188 | Semilobar holoprosencephaly | Enrichment | FGFR1 | 1.41 |
| 189 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.41 |
| 190 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 1.38 |
| 191 | Craniosynostosis | Enrichment | CTNNA1 | 1.36 |
| 192 | Endometrial cancer | Enrichment | PIK3CA | 1.34 |
| 193 | Hepatoblastoma | Enrichment | CTNNB1 | 1.34 |
| 194 | Attention deficit-hyperactivity disorder | Enrichment | KIF5B | 1.32 |
| 195 | Tooth agenesis | Enrichment | FGFR1 | 1.32 |
| 196 | Noonan syndrome 1 | Enrichment | PTPN11 | 1.30 |
| 197 | Brittle bone disorder | Enrichment | LRP5 | 1.30 |
| 198 | Kallmann syndrome | Enrichment | FGFR1 | 1.30 |
| 199 | Scoliosis | Enrichment | PTPN11 | 1.29 |
| 200 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 1.25 |
| 201 | Rasopathy | Enrichment | PTPN11 | 1.25 |
| 202 | Auditory neuropathy | Enrichment | CDH2 | 1.25 |
| 203 | Strabismus | Enrichment | PTPN11 | 1.24 |
| 204 | Prostate cancer | Enrichment | PIK3CA | 1.21 |
| 205 | Long qt syndrome 1 | Enrichment | PTPN11 | 1.19 |
| 206 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 1.18 |
| 207 | Lung cancer | Enrichment | PIK3CA | 1.16 |
| 208 | Familial hypertrophic cardiomyopathy | Enrichment | MYL2 | 1.15 |
| 209 | Charcot-marie-tooth disease | Enrichment | DCTN1 | 1.06 |
| 210 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 1.05 |
| 211 | Gastric cancer | Enrichment | PIK3CA | 1.04 |
| 212 | Hereditary breast carcinoma | Enrichment | PIK3CA | 1.03 |
| 213 | Thrombocytopenia | Enrichment | PTPN11 | 1.00 |
| 214 | Hypertelorism | Enrichment | PIK3CA | 0.96 |
| 215 | Hereditary breast ovarian cancer syndrome | Enrichment | CTNNA1 | 0.94 |
| 216 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.93 |
| 217 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | DCTN1 | 0.92 |
| 218 | Hereditary retinal dystrophy | Enrichment | CTNNA1, LRP5 | 0.87 |
| 219 | Fundus dystrophy | Enrichment | CTNNA1, LRP5 | 0.87 |
| 220 | Autism | Enrichment | CAMK2G | 0.83 |
| 221 | Breast cancer | Enrichment | PIK3CA | 0.81 |
| 222 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.75 |
| 223 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.68 |
| 224 | Nervous system disease | Enrichment | CTNNB1 | 0.68 |
| 225 | Autism spectrum disorder | Enrichment | PTPN11 | 0.67 |