| 1 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, DVL3, FZD2, WNT5A | 9.18 |
| 2 | Autosomal dominant robinow syndrome | Enrichment | DVL1, DVL3, FZD2, WNT5A | 9.18 |
| 3 | Lung non-small cell carcinoma | Enrichment | EGFR, ERBB2, HRAS, MAP2K1, PIK3CA | 8.84 |
| 4 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, DVL3, FZD2, WNT5A | 8.49 |
| 5 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA, PTEN | 8.49 |
| 6 | Bladder cancer | Enrichment | CTNNB1, EGFR, ERBB2, HRAS, PIK3CA, PTEN | 8.18 |
| 7 | Autosomal recessive robinow syndrome | Enrichment | DVL1, DVL3, FZD2, WNT5A | 8.01 |
| 8 | Ovarian cancer | Enrichment | AKT1, AR, CTNNB1, EGFR, ERBB2, PIK3CA, PTEN, TSC2 | 7.34 |
| 9 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, EGF, PIK3CA, TSC2 | 7.09 |
| 10 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, RAF1, SOS1, SOS2 | 7.00 |
| 11 | Rasopathy | Enrichment | HRAS, MAP2K1, RAF1, SOS1, SOS2 | 6.72 |
| 12 | Colorectal cancer | Enrichment | AKT1, CTNNB1, ERBB2, FZD3, PIK3CA, PIK3R1, SRC | 6.52 |
| 13 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, RAF1, SOS1 | 6.07 |
| 14 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, DVL3, FZD2 | 5.88 |
| 15 | Cowden syndrome 1 | Enrichment | EGFR, PIK3CA, PTEN | 5.58 |
| 16 | Noonan syndrome 3 | Enrichment | HRAS, RAF1, SOS1 | 5.34 |
| 17 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 4.97 |
| 18 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 4.97 |
| 19 | Loeys-dietz syndrome | Enrichment | SMAD3, TGFBR1, TGFBR2 | 4.86 |
| 20 | Prostate cancer | Enrichment | AR, PIK3CA, PTEN, SRD5A2 | 4.85 |
| 21 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 4.81 |
| 22 | Robinow syndrome, autosomal dominant 3 | Enrichment | DVL3, FZD2 | 4.58 |
| 23 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 4.55 |
| 24 | Lip and oral cavity carcinoma | Enrichment | EGFR, HRAS, PIK3CA | 4.55 |
| 25 | Loeys-dietz syndrome 2 | Enrichment | TGFBR1, TGFBR2 | 4.51 |
| 26 | Osteoporosis, juvenile | Enrichment | WNT1, WNT3A | 4.11 |
| 27 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.11 |
| 28 | Loeys-dietz syndrome 1 | Enrichment | TGFBR1, TGFBR2 | 4.03 |
| 29 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA | 3.81 |
| 30 | Focal cortical dysplasia, type ii | Enrichment | MTOR, TSC2 | 3.81 |
| 31 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, TSC2 | 3.81 |
| 32 | Aortic aneurysm | Enrichment | SMAD3, TGFBR1 | 3.73 |
| 33 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, FZD4 | 3.59 |
| 34 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 3.51 |
| 35 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.41 |
| 36 | Lung squamous cell carcinoma | Enrichment | EGFR, PIK3CA | 3.41 |
| 37 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.27 |
| 38 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, PTEN | 3.27 |
| 39 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN | 3.27 |
| 40 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.27 |
| 41 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA | 3.27 |
| 42 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 3.27 |
| 43 | Follicular thyroid carcinoma | Enrichment | HRAS, PTEN | 3.27 |
| 44 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.27 |
| 45 | Lung cancer | Enrichment | EGFR, ERBB2, PIK3CA | 3.23 |
| 46 | Breast cancer | Enrichment | AKT1, PIK3CA, PTEN, SHC1 | 3.22 |
| 47 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.14 |
| 48 | Exudative vitreoretinopathy | Enrichment | CTNNB1, FZD4 | 3.14 |
| 49 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 2.96 |
| 50 | Marfan syndrome | Enrichment | TGFBR1, TGFBR2 | 2.87 |
| 51 | Gastric cancer | Enrichment | ERBB2, PIK3CA, PTEN | 2.85 |
| 52 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA, PTEN | 2.82 |
| 53 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD3, TGFBR1, TGFBR2 | 2.72 |
| 54 | Osteoporosis | Enrichment | SRC, WNT1 | 2.64 |
| 55 | Lung cancer susceptibility 3 | Enrichment | EGFR, ERBB2 | 2.64 |
| 56 | Autism spectrum disorder | Enrichment | MAP2K1, PTEN, SRD5A2, TSC2 | 2.62 |
| 57 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN | 2.52 |
| 58 | Arteriovenous malformations of the brain | Enrichment | EGFR, IL6 | 2.30 |
| 59 | Ehlers-danlos syndrome | Enrichment | SMAD3, TGFBR2 | 2.30 |
| 60 | Microcephaly | Enrichment | CTNNB1, EP300, IGF1R, MAPK1 | 2.30 |
| 61 | Macrodactyly | Enrichment | PIK3CA | 2.29 |
| 62 | Proteus syndrome | Enrichment | AKT1 | 2.29 |
| 63 | Paget disease, extramammary | Enrichment | ERBB2 | 2.29 |
| 64 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 2.29 |
| 65 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 2.29 |
| 66 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.29 |
| 67 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.29 |
| 68 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.29 |
| 69 | Androgen insensitivity, partial | Enrichment | AR | 2.29 |
| 70 | Noonan syndrome 5 | Enrichment | RAF1 | 2.29 |
| 71 | Hypomagnesemia 4, renal | Enrichment | EGF | 2.29 |
| 72 | Noonan syndrome 4 | Enrichment | SOS1 | 2.29 |
| 73 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.29 |
| 74 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 2.29 |
| 75 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.29 |
| 76 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.29 |
| 77 | Omodysplasia 2 | Enrichment | FZD2 | 2.29 |
| 78 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.29 |
| 79 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.29 |
| 80 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.29 |
| 81 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 2.29 |
| 82 | Noonan syndrome 9 | Enrichment | SOS2 | 2.29 |
| 83 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 2.29 |
| 84 | Accelerated tumor formation | Enrichment | MDM2 | 2.29 |
| 85 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.29 |
| 86 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.29 |
| 87 | Visceral neuropathy, familial, 2, autosomal recessive | Enrichment | ERBB2 | 2.29 |
| 88 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.29 |
| 89 | Immunodeficiency 92 | Enrichment | REL | 2.29 |
| 90 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.29 |
| 91 | Short syndrome | Enrichment | PIK3R1 | 2.29 |
| 92 | Diarrhea 9 | Enrichment | WNT2B | 2.29 |
| 93 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.29 |
| 94 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.29 |
| 95 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.29 |
| 96 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.29 |
| 97 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.29 |
| 98 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.29 |
| 99 | Santos syndrome | Enrichment | WNT7A | 2.29 |
| 100 | Melorheostosis | Enrichment | MAP2K1 | 2.29 |
| 101 | Leopard syndrome 2 | Enrichment | RAF1 | 2.29 |
| 102 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.29 |
| 103 | Cowden syndrome 6 | Enrichment | AKT1 | 2.29 |
| 104 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.29 |
| 105 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 2.29 |
| 106 | Glioma susceptibility 2 | Enrichment | PTEN | 2.29 |
| 107 | Thrombocytopenia 6 | Enrichment | SRC | 2.29 |
| 108 | 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency | Enrichment | SRD5A2 | 2.29 |
| 109 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.29 |
| 110 | Immunodeficiency 53 | Enrichment | RELB | 2.29 |
| 111 | Trigonitis | Enrichment | RAF1 | 2.29 |
| 112 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.29 |
| 113 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.29 |
| 114 | Hypospadias | Enrichment | PIK3CA | 2.29 |
| 115 | Capillary hemangioma | Enrichment | AKT3 | 2.29 |
| 116 | Rare venous malformation | Enrichment | PIK3CA | 2.29 |
| 117 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.29 |
| 118 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.29 |
| 119 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.29 |
| 120 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.29 |
| 121 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.29 |
| 122 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.29 |
| 123 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.29 |
| 124 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.29 |
| 125 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.29 |
| 126 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.29 |
| 127 | Egf-related primary hypomagnesemia with intellectual disability | Enrichment | EGF | 2.29 |
| 128 | Macrodactyly of toe | Enrichment | PIK3CA | 2.29 |
| 129 | Serous carcinoma of the corpus uteri | Enrichment | ERBB2 | 2.29 |
| 130 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.29 |
| 131 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.29 |
| 132 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 2.29 |
| 133 | Multiple self-healing squamous epithelioma | Enrichment | TGFBR1 | 2.25 |
| 134 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.25 |
| 135 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.25 |
| 136 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.25 |
| 137 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.25 |
| 138 | Colorectal cancer, hereditary nonpolyposis, type 6 | Enrichment | TGFBR2 | 2.25 |
| 139 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.25 |
| 140 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.25 |
| 141 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.25 |
| 142 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.25 |
| 143 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.25 |
| 144 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.25 |
| 145 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.25 |
| 146 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.25 |
| 147 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.25 |
| 148 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.25 |
| 149 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.25 |
| 150 | Tooth agenesis | Enrichment | WNT10A, WNT10B | 2.25 |
| 151 | Hydrops fetalis, nonimmune | Enrichment | FZD6, HRAS | 2.10 |
| 152 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.99 |
| 153 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 1.99 |
| 154 | Costello syndrome | Enrichment | HRAS | 1.99 |
| 155 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 1.99 |
| 156 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 1.99 |
| 157 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 1.99 |
| 158 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.99 |
| 159 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.99 |
| 160 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 1.99 |
| 161 | Pulmonic stenosis | Enrichment | SOS1 | 1.99 |
| 162 | Xanthinuria, type i | Enrichment | SRD5A2 | 1.99 |
| 163 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.99 |
| 164 | Lymphangioleiomyomatosis | Enrichment | TSC2 | 1.99 |
| 165 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.99 |
| 166 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.99 |
| 167 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.99 |
| 168 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 1.99 |
| 169 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.99 |
| 170 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 1.99 |
| 171 | 46,xy sex reversal 1 | Enrichment | AR | 1.99 |
| 172 | Androgen insensitivity syndrome | Enrichment | AR | 1.99 |
| 173 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.99 |
| 174 | Cebalid syndrome | Enrichment | MTOR | 1.99 |
| 175 | Hypospadias 1, x-linked | Enrichment | AR | 1.99 |
| 176 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.99 |
| 177 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.99 |
| 178 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.99 |
| 179 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.99 |
| 180 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.99 |
| 181 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.99 |
| 182 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.99 |
| 183 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.99 |
| 184 | Posterior hypospadias | Enrichment | AR | 1.99 |
| 185 | Teratoma | Enrichment | CTNNB1 | 1.99 |
| 186 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.99 |
| 187 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.99 |
| 188 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.99 |
| 189 | Wooly hair nevus | Enrichment | HRAS | 1.99 |
| 190 | Non-immune hydrops fetalis | Enrichment | FZD6, HRAS | 1.96 |
| 191 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.95 |
| 192 | Microvascular complications of diabetes 5 | Enrichment | TGFBR2 | 1.95 |
| 193 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.95 |
| 194 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.95 |
| 195 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 1.95 |
| 196 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.95 |
| 197 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.95 |
| 198 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.95 |
| 199 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.95 |
| 200 | Connective tissue disease | Enrichment | SMAD3, TGFBR2 | 1.86 |
| 201 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.81 |
| 202 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.81 |
| 203 | Tuberous sclerosis 1 | Enrichment | TSC2 | 1.81 |
| 204 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.81 |
| 205 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.81 |
| 206 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.81 |
| 207 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 1.81 |
| 208 | Nuchal bleb, familial | Enrichment | SOS1 | 1.81 |
| 209 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.81 |
| 210 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.81 |
| 211 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.81 |
| 212 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.81 |
| 213 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.81 |
| 214 | Anus, imperforate | Enrichment | CTNNB1 | 1.81 |
| 215 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.81 |
| 216 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.81 |
| 217 | Desmoid tumor | Enrichment | CTNNB1 | 1.81 |
| 218 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.81 |
| 219 | Hamartoma | Enrichment | TSC2 | 1.81 |
| 220 | Nail disease | Enrichment | FZD6 | 1.81 |
| 221 | Xanthinuria, type ii | Enrichment | TSC2 | 1.81 |
| 222 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.81 |
| 223 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.81 |
| 224 | Spermatocytoma | Enrichment | HRAS | 1.81 |
| 225 | Tetraamelia syndrome | Enrichment | WNT3 | 1.81 |
| 226 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.81 |
| 227 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.81 |
| 228 | Keratoacanthoma | Enrichment | PIK3CA | 1.81 |
| 229 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.78 |
| 230 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 1.78 |
| 231 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.78 |
| 232 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 1.78 |
| 233 | Hyper ige syndrome | Enrichment | STAT3 | 1.78 |
| 234 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.78 |
| 235 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 1.78 |
| 236 | Congenital nervous system abnormality | Enrichment | CTNNB1, PTEN, TSC2 | 1.76 |
| 237 | Nervous system disease | Enrichment | CTNNB1, PTEN, TSC2 | 1.76 |
| 238 | Type 2 diabetes mellitus | Enrichment | AKT2, IRS1 | 1.70 |
| 239 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.69 |
| 240 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.69 |
| 241 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DVL2 | 1.69 |
| 242 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 1.69 |
| 243 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.69 |
| 244 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3 | 1.69 |
| 245 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.69 |
| 246 | Pilomatrixoma | Enrichment | CTNNB1 | 1.69 |
| 247 | Barrett esophagus | Enrichment | ERBB2 | 1.69 |
| 248 | Alazami syndrome | Enrichment | CTNNB1 | 1.69 |
| 249 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.69 |
| 250 | Ectodermal dysplasia | Enrichment | WNT10A | 1.69 |
| 251 | Retinopathy of prematurity | Enrichment | FZD4 | 1.69 |
| 252 | Tuberous sclerosis | Enrichment | TSC2 | 1.69 |
| 253 | Cerebrovascular disease | Enrichment | PIK3CA | 1.69 |
| 254 | Craniopharyngioma | Enrichment | CTNNB1 | 1.69 |
| 255 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.69 |
| 256 | Epidermolytic nevus | Enrichment | HRAS | 1.69 |
| 257 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.69 |
| 258 | Eyelid coloboma | Enrichment | FZD5 | 1.69 |
| 259 | Glioma | Enrichment | PTEN | 1.69 |
| 260 | Gingival fibromatosis | Enrichment | SOS1 | 1.69 |
| 261 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | SOS2 | 1.69 |
| 262 | Lens coloboma | Enrichment | FZD5 | 1.69 |
| 263 | Kaposi sarcoma | Enrichment | IL6 | 1.65 |
| 264 | Mantle cell lymphoma | Enrichment | CCND1 | 1.65 |
| 265 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.65 |
| 266 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.59 |
| 267 | Pseudovaginal perineoscrotal hypospadias | Enrichment | SRD5A2 | 1.59 |
| 268 | Norrie disease | Enrichment | FZD4 | 1.59 |
| 269 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.59 |
| 270 | Hemangioma | Enrichment | PTEN | 1.59 |
| 271 | Persistent hyperplastic primary vitreous | Enrichment | FZD4 | 1.59 |
| 272 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.59 |
| 273 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 1.59 |
| 274 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.59 |
| 275 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.59 |
| 276 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.56 |
| 277 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.56 |
| 278 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | PAK6 | 1.56 |
| 279 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.56 |
| 280 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.51 |
| 281 | Li-fraumeni syndrome | Enrichment | MDM2 | 1.51 |
| 282 | Coloboma of optic nerve | Enrichment | FZD5 | 1.51 |
| 283 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.51 |
| 284 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.51 |
| 285 | Renal dysplasia, cystic | Enrichment | WNT9B | 1.51 |
| 286 | Renal hypoplasia | Enrichment | WNT9B | 1.51 |
| 287 | Diarrhea | Enrichment | WNT2B | 1.51 |
| 288 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.51 |
| 289 | Limited scleroderma | Enrichment | CAV1 | 1.51 |
| 290 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.51 |
| 291 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.51 |
| 292 | Inherited cancer-predisposing syndrome | Enrichment | EGFR, PTEN, TSC2 | 1.51 |
| 293 | Rubinstein-taybi syndrome 1 | Enrichment | EP300 | 1.48 |
| 294 | Type 1 diabetes mellitus | Enrichment | IL6 | 1.48 |
| 295 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | EP300 | 1.48 |
| 296 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.48 |
| 297 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.48 |
| 298 | Classic ehlers-danlos syndrome | Enrichment | TGFBR1 | 1.48 |
| 299 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.45 |
| 300 | Myelofibrosis | Enrichment | SRC | 1.45 |
| 301 | Coats disease | Enrichment | FZD4 | 1.45 |
| 302 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.45 |
| 303 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.45 |
| 304 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.45 |
| 305 | Megacolon | Enrichment | AKT3 | 1.45 |
| 306 | Esophageal cancer | Enrichment | TGFBR2 | 1.41 |
| 307 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.41 |
| 308 | Glioma susceptibility 1 | Enrichment | ERBB2 | 1.39 |
| 309 | Renal hypodysplasia/aplasia 1 | Enrichment | WNT9B | 1.39 |
| 310 | Isolated split hand-split foot malformation | Enrichment | WNT10B | 1.39 |
| 311 | Difference of sex development | Enrichment | AR | 1.39 |
| 312 | Mosaic variegated aneuploidy syndrome | Enrichment | PAK6 | 1.36 |
| 313 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.36 |
| 314 | Renal agenesis, bilateral | Enrichment | WNT9B | 1.34 |
| 315 | Charge syndrome | Enrichment | EP300 | 1.31 |
| 316 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.31 |
| 317 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.31 |
| 318 | Cat eye syndrome | Enrichment | FZD5 | 1.30 |
| 319 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.30 |
| 320 | Polymicrogyria | Enrichment | AKT3 | 1.30 |
| 321 | Melanoma | Enrichment | PTEN | 1.30 |
| 322 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.30 |
| 323 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.26 |
| 324 | Meningioma, familial | Enrichment | PTEN | 1.26 |
| 325 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.26 |
| 326 | Uterine corpus cancer | Enrichment | PTEN | 1.26 |
| 327 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.26 |
| 328 | Specific learning disability | Enrichment | MAPK1 | 1.26 |
| 329 | Pectus excavatum | Enrichment | TGFBR1 | 1.22 |
| 330 | Aortic valve disease 1 | Enrichment | SOS1 | 1.19 |
| 331 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 1.19 |
| 332 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.19 |
| 333 | Chronic kidney disease | Enrichment | WNT9B | 1.19 |
| 334 | Medulloblastoma | Enrichment | CTNNB1 | 1.16 |
| 335 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.16 |
| 336 | Neural tube defects | Enrichment | RAD9B | 1.15 |
| 337 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.15 |
| 338 | Nk-cell enteropathy | Enrichment | IGF1R | 1.15 |
| 339 | Coloboma of macula | Enrichment | FZD5 | 1.13 |
| 340 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.13 |
| 341 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 1.13 |
| 342 | Hydrocephalus | Enrichment | FZD3 | 1.13 |
| 343 | Lynch syndrome | Enrichment | PIK3CA | 1.13 |
| 344 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.13 |
| 345 | Rare genetic intellectual disability | Enrichment | MTOR | 1.13 |
| 346 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.12 |
| 347 | Gliosarcoma | Enrichment | EGFR | 1.10 |
| 348 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.09 |
| 349 | Polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 350 | Giant cell glioblastoma | Enrichment | EGFR | 1.07 |
| 351 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 352 | Heart, malformation of | Enrichment | MAPK1 | 1.05 |
| 353 | Diffuse large b-cell lymphoma | Enrichment | PTEN | 1.03 |
| 354 | Macs syndrome | Enrichment | WNT7B | 1.01 |
| 355 | Hepatoblastoma | Enrichment | CTNNB1 | 0.99 |
| 356 | Microphthalmia | Enrichment | WNT7B | 0.97 |
| 357 | Brittle bone disorder | Enrichment | WNT1 | 0.95 |
| 358 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.93 |
| 359 | Hirschsprung disease 1 | Enrichment | ERBB2 | 0.86 |
| 360 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.86 |
| 361 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.80 |
| 362 | Male infertility | Enrichment | AR | 0.79 |
| 363 | Cystic fibrosis | Enrichment | TGFB1 | 0.78 |
| 364 | Left ventricular noncompaction | Enrichment | RAF1 | 0.78 |
| 365 | Distal arthrogryposis | Enrichment | FZD3 | 0.71 |
| 366 | West syndrome | Enrichment | TSC2 | 0.69 |
| 367 | Thrombocytopenia | Enrichment | SRC | 0.66 |
| 368 | Hypertelorism | Enrichment | PIK3CA | 0.63 |
| 369 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.62 |
| 370 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.61 |
| 371 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR | 0.60 |
| 372 | Myeloma, multiple | Enrichment | CCND1 | 0.57 |
| 373 | Autosomal recessive non-syndromic intellectual disability | Enrichment | EZR | 0.56 |
| 374 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.47 |
| 375 | Hereditary retinal dystrophy | Enrichment | FZD4 | 0.11 |
| 376 | Fundus dystrophy | Enrichment | FZD4 | 0.11 |