| 1 | Capillary malformations, congenital | Enrichment | GNA11, GNAQ, PIK3CA | 5.87 |
| 2 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 5.33 |
| 3 | Phakomatosis cesioflammea | Enrichment | GNA11, GNAQ | 5.33 |
| 4 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 5.12 |
| 5 | Anastomosing haemangioma | Enrichment | GNA11, GNAQ | 4.85 |
| 6 | Pigmented nodular adrenocortical disease, primary, 1 | Enrichment | GNAS, PRKAR1A | 4.57 |
| 7 | Acrodysostosis | Enrichment | PDE4D, PRKAR1A | 4.32 |
| 8 | Melanoma, uveal | Enrichment | GNA11, GNAQ | 4.15 |
| 9 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | GNA11, PIK3CA | 4.09 |
| 10 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 3.79 |
| 11 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA | 3.57 |
| 12 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ, PIK3CA | 3.40 |
| 13 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR | 3.40 |
| 14 | Adrenocortical carcinoma | Enrichment | CTNNB1, PRKAR1A | 3.40 |
| 15 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.40 |
| 16 | Brugada syndrome | Enrichment | CACNA2D1, CACNB2 | 3.33 |
| 17 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3 | 3.30 |
| 18 | Non-immune hydrops fetalis | Enrichment | CALCRL, FLT4, PIEZO1 | 3.25 |
| 19 | Gallbladder cancer | Enrichment | CTNNB1, PIK3CA | 3.25 |
| 20 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 3.02 |
| 21 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 3.02 |
| 22 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.02 |
| 23 | Palmoplantar keratoderma and congenital alopecia 1 | Enrichment | GJA1 | 2.90 |
| 24 | Proteus syndrome | Enrichment | AKT1 | 2.90 |
| 25 | Hypoplastic left heart syndrome 1 | Enrichment | GJA1 | 2.90 |
| 26 | Brugada syndrome 4 | Enrichment | CACNB2 | 2.90 |
| 27 | Oculodentodigital dysplasia | Enrichment | GJA1 | 2.90 |
| 28 | Craniometaphyseal dysplasia, autosomal recessive | Enrichment | GJA1 | 2.90 |
| 29 | Oculodentodigital dysplasia, autosomal recessive | Enrichment | GJA1 | 2.90 |
| 30 | Epilepsy, childhood absence 6 | Enrichment | CACNA1H | 2.90 |
| 31 | Cowden syndrome 6 | Enrichment | AKT1 | 2.90 |
| 32 | Developmental and epileptic encephalopathy 110 | Enrichment | CACNA2D1 | 2.90 |
| 33 | Blood group, er | Enrichment | PIEZO1 | 2.90 |
| 34 | Erythrokeratodermia variabilis et progressiva 3 | Enrichment | GJA1 | 2.90 |
| 35 | Hyperaldosteronism, familial, type iv | Enrichment | CACNA1H | 2.90 |
| 36 | Conn's syndrome | Enrichment | CACNA1H | 2.90 |
| 37 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.90 |
| 38 | Diffuse lymphatic malformation | Enrichment | PIEZO1 | 2.90 |
| 39 | Meningioma | Enrichment | AKT1, PIK3CA | 2.76 |
| 40 | Primary hyperaldosteronism | Enrichment | CACNA1H, GNAS | 2.69 |
| 41 | Hypocalciuric hypercalcemia, familial, type ii | Enrichment | GNA11 | 2.66 |
| 42 | Incontinentia pigmenti | Enrichment | IKBKG | 2.66 |
| 43 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.66 |
| 44 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development | Enrichment | YAP1 | 2.66 |
| 45 | Fetal encasement syndrome | Enrichment | CHUK | 2.66 |
| 46 | Sturge-weber syndrome | Enrichment | GNAQ | 2.66 |
| 47 | Immunodeficiency 15b | Enrichment | IKBKB | 2.66 |
| 48 | Immunodeficiency 15a | Enrichment | IKBKB | 2.66 |
| 49 | Pulmonary hypertension, primary, 6 | Enrichment | CAPNS1 | 2.66 |
| 50 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.66 |
| 51 | Uveal coloboma-cleft lip and palate-intellectual disability | Enrichment | YAP1 | 2.66 |
| 52 | Houge-janssens syndrome 2 | Enrichment | PPP2R1A | 2.66 |
| 53 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.66 |
| 54 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.66 |
| 55 | Immunodeficiency 31a | Enrichment | STAT1 | 2.66 |
| 56 | Hypocalcemia, autosomal dominant 2 | Enrichment | GNA11 | 2.66 |
| 57 | Acrodysostosis 2 with or without hormone resistance | Enrichment | PDE4D | 2.66 |
| 58 | Immunodeficiency 31b | Enrichment | STAT1 | 2.66 |
| 59 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.66 |
| 60 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.66 |
| 61 | Ppp2r1a-related neurodevelopmental disorder | Enrichment | PPP2R1A | 2.66 |
| 62 | Phakomatosis cesiomarmorata | Enrichment | GNA11 | 2.66 |
| 63 | Hallermann-streiff syndrome | Enrichment | GJA1 | 2.60 |
| 64 | Schwartz-jampel syndrome, type 1 | Enrichment | HSPG2 | 2.60 |
| 65 | Syndactyly, type iii | Enrichment | GJA1 | 2.60 |
| 66 | Syndactyly, type v | Enrichment | GJA1 | 2.60 |
| 67 | Oocyte/zygote/embryo maturation arrest 7 | Enrichment | PANX1 | 2.60 |
| 68 | Craniometaphyseal dysplasia | Enrichment | GJA1 | 2.60 |
| 69 | Lymphatic malformation 6 | Enrichment | PIEZO1 | 2.60 |
| 70 | Breast cancer | Enrichment | AKT1, CACNA2D1, GNG3, PIK3CA | 2.58 |
| 71 | Lip and oral cavity carcinoma | Enrichment | ABL1, PIK3CA | 2.52 |
| 72 | Hypertension, essential | Enrichment | GNB3, NOS3 | 2.46 |
| 73 | Primary ovarian insufficiency | Enrichment | KDR, NOS3, RICTOR | 2.44 |
| 74 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 2.43 |
| 75 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 2.43 |
| 76 | Dyssegmental dysplasia, silverman-handmaker type | Enrichment | HSPG2 | 2.43 |
| 77 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 2.43 |
| 78 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.35 |
| 79 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.35 |
| 80 | Cutis marmorata telangiectatica congenita | Enrichment | GNA11 | 2.35 |
| 81 | Immunodeficiency 33 | Enrichment | IKBKG | 2.35 |
| 82 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.35 |
| 83 | Chromosome 5q12 deletion syndrome | Enrichment | PDE4D | 2.35 |
| 84 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.35 |
| 85 | Immunodeficiency 31c | Enrichment | STAT1 | 2.35 |
| 86 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.35 |
| 87 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 2.35 |
| 88 | Rela fusion-positive ependymoma | Enrichment | RELA | 2.35 |
| 89 | Autosomal dominant hypocalcemia | Enrichment | GNA11 | 2.35 |
| 90 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.35 |
| 91 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.35 |
| 92 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.35 |
| 93 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | Enrichment | PIEZO1 | 2.30 |
| 94 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 2.30 |
| 95 | Metatropic dysplasia | Enrichment | TRPV4 | 2.28 |
| 96 | Macrodactyly | Enrichment | PIK3CA | 2.28 |
| 97 | Acrodysostosis 1 with or without hormone resistance | Enrichment | PRKAR1A | 2.28 |
| 98 | Parastremmatic dwarfism | Enrichment | TRPV4 | 2.28 |
| 99 | Spondylometaphyseal dysplasia, kozlowski type | Enrichment | TRPV4 | 2.28 |
| 100 | Neuronopathy, distal hereditary motor, autosomal dominant 8 | Enrichment | TRPV4 | 2.28 |
| 101 | Pseudohypoparathyroidism, type ic | Enrichment | GNAS | 2.28 |
| 102 | Carney complex, type 1 | Enrichment | PRKAR1A | 2.28 |
| 103 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.28 |
| 104 | Osseous heteroplasia, progressive | Enrichment | GNAS | 2.28 |
| 105 | Brachyolmia type 3 | Enrichment | TRPV4 | 2.28 |
| 106 | Sodium serum level quantitative trait locus 1 | Enrichment | TRPV4 | 2.28 |
| 107 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.28 |
| 108 | Spondyloepiphyseal dysplasia, maroteaux type | Enrichment | TRPV4 | 2.28 |
| 109 | Dyskinesia with orofacial involvement, autosomal dominant | Enrichment | ADCY5 | 2.28 |
| 110 | Scapuloperoneal spinal muscular atrophy | Enrichment | TRPV4 | 2.28 |
| 111 | Deafness, autosomal recessive 44 | Enrichment | ADCY1 | 2.28 |
| 112 | Avascular necrosis of femoral head, primary, 2 | Enrichment | TRPV4 | 2.28 |
| 113 | Acth-independent macronodular adrenal hyperplasia 1 | Enrichment | GNAS | 2.28 |
| 114 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.28 |
| 115 | Neurodevelopmental disorder with hypotonia and dysmorphic facies | Enrichment | GNB2 | 2.28 |
| 116 | Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | Enrichment | ADCY5 | 2.28 |
| 117 | Pituitary adenoma 3, multiple types | Enrichment | GNAS | 2.28 |
| 118 | Winchester syndrome | Enrichment | MMP14 | 2.28 |
| 119 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.28 |
| 120 | Myxoma, intracardiac | Enrichment | PRKAR1A | 2.28 |
| 121 | Dyskinesia with orofacial involvement, autosomal recessive | Enrichment | ADCY5 | 2.28 |
| 122 | Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | Enrichment | GNB5 | 2.28 |
| 123 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.28 |
| 124 | Skeletal dysplasia and progressive central nervous system degeneration, lethal | Enrichment | TRPV4 | 2.28 |
| 125 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.28 |
| 126 | Digital arthropathy-brachydactyly, familial | Enrichment | TRPV4 | 2.28 |
| 127 | Long qt syndrome 16 | Enrichment | CALM3 | 2.28 |
| 128 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.28 |
| 129 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.28 |
| 130 | Charcot-marie-tooth disease, dominant intermediate f | Enrichment | GNB4 | 2.28 |
| 131 | Disorders of gnas inactivation | Enrichment | GNAS | 2.28 |
| 132 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.28 |
| 133 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.28 |
| 134 | Intellectual developmental disorder, autosomal dominant 42 | Enrichment | GNB1 | 2.28 |
| 135 | Sick sinus syndrome 4 | Enrichment | GNB2 | 2.28 |
| 136 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.28 |
| 137 | Tufted angioma of skin | Enrichment | KDR | 2.28 |
| 138 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.28 |
| 139 | Long qt syndrome 15 | Enrichment | CALM2 | 2.28 |
| 140 | Hypospadias | Enrichment | PIK3CA | 2.28 |
| 141 | Prkar1b-related neurodegenerative dementia with intermediate filaments | Enrichment | PRKAR1B | 2.28 |
| 142 | Rare venous malformation | Enrichment | PIK3CA | 2.28 |
| 143 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.28 |
| 144 | Capillary leak syndrome | Enrichment | TLN1 | 2.28 |
| 145 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.28 |
| 146 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.28 |
| 147 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.28 |
| 148 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.28 |
| 149 | Monostotic fibrous dysplasia | Enrichment | GNAS | 2.28 |
| 150 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.28 |
| 151 | Mazabraud syndrome | Enrichment | GNAS | 2.28 |
| 152 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.28 |
| 153 | Macrodactyly of toe | Enrichment | PIK3CA | 2.28 |
| 154 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.28 |
| 155 | Trpv4-related bone disorder | Enrichment | TRPV4 | 2.28 |
| 156 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.23 |
| 157 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 2.20 |
| 158 | Cardiac arrest | Enrichment | CACNA2D1 | 2.20 |
| 159 | Cleft upper lip | Enrichment | GJA1 | 2.20 |
| 160 | Female infertility due to oocyte meiotic arrest | Enrichment | PANX1 | 2.20 |
| 161 | Congenital short qt syndrome | Enrichment | CACNA2D1 | 2.20 |
| 162 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 2.18 |
| 163 | Nasopharyngeal carcinoma | Enrichment | NFKBIA | 2.18 |
| 164 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 2.18 |
| 165 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 2.13 |
| 166 | Childhood absence epilepsy | Enrichment | CACNA1H | 2.13 |
| 167 | Tetralogy of fallot | Enrichment | FLT4, KDR | 2.09 |
| 168 | Hydrops fetalis, nonimmune | Enrichment | FLT4, PIEZO1 | 2.09 |
| 169 | Brugada syndrome 1 | Enrichment | CACNA2D1 | 2.06 |
| 170 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 2.06 |
| 171 | Malignant epithelioid hemangioendothelioma | Enrichment | YAP1 | 2.05 |
| 172 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 2.05 |
| 173 | Erythrokeratodermia variabilis et progressiva 1 | Enrichment | GJA1 | 2.00 |
| 174 | Hypoplastic left heart syndrome | Enrichment | GJA1 | 2.00 |
| 175 | Bladder cancer | Enrichment | CTNNB1, PIK3CA | 2.00 |
| 176 | Lymphatic malformation 1 | Enrichment | FLT4 | 1.98 |
| 177 | Pseudohypoparathyroidism, type ia | Enrichment | GNAS | 1.98 |
| 178 | Amelogenesis imperfecta, type ig | Enrichment | PRKAR1A | 1.98 |
| 179 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 1.98 |
| 180 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.98 |
| 181 | Pseudopseudohypoparathyroidism | Enrichment | GNAS | 1.98 |
| 182 | Hereditary motor and sensory neuropathy, type iic | Enrichment | TRPV4 | 1.98 |
| 183 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.98 |
| 184 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.98 |
| 185 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.98 |
| 186 | Lethal congenital contracture syndrome 8 | Enrichment | ADCY6 | 1.98 |
| 187 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.98 |
| 188 | Angioma, tufted | Enrichment | KDR | 1.98 |
| 189 | Night blindness, congenital stationary, type 1h | Enrichment | GNB3 | 1.98 |
| 190 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.98 |
| 191 | Long qt syndrome 14 | Enrichment | CALM1 | 1.98 |
| 192 | Marbach-schaaf neurodevelopmental syndrome | Enrichment | PRKAR1B | 1.98 |
| 193 | Cebalid syndrome | Enrichment | MTOR | 1.98 |
| 194 | Usher syndrome, type iv | Enrichment | PRKAR1A | 1.98 |
| 195 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.98 |
| 196 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.98 |
| 197 | Pseudohypoparathyroidism | Enrichment | GNAS | 1.98 |
| 198 | Body mass index quantitative trait locus 19 | Enrichment | ADCY3 | 1.98 |
| 199 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.98 |
| 200 | Lymphatic malformation 8 | Enrichment | CALCRL | 1.98 |
| 201 | Familial avascular necrosis of the femoral head | Enrichment | TRPV4 | 1.98 |
| 202 | Immune system disease | Enrichment | PIK3CD | 1.98 |
| 203 | Ciliary dyskinesia, primary, 18 | Enrichment | PRKAR1B | 1.98 |
| 204 | Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | Enrichment | GNB5 | 1.98 |
| 205 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.98 |
| 206 | Hereditary lymphedema i | Enrichment | FLT4 | 1.98 |
| 207 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.98 |
| 208 | Isolated primary pigmented nodular adrenocortical disease | Enrichment | PRKAR1A | 1.98 |
| 209 | Acth-independent macronodular adrenal hyperplasia | Enrichment | GNAS | 1.98 |
| 210 | Teratoma | Enrichment | CTNNB1 | 1.98 |
| 211 | Cerebral visual impairment | Enrichment | GNB1 | 1.98 |
| 212 | Colorectal cancer | Enrichment | AKT1, CTNNB1, PIK3CA | 1.97 |
| 213 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.96 |
| 214 | Hydrops fetalis | Enrichment | PIEZO1 | 1.95 |
| 215 | Long qt syndrome | Enrichment | CALM1, CALM2 | 1.94 |
| 216 | Leukemia, chronic lymphocytic | Enrichment | P2RX7 | 1.90 |
| 217 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.90 |
| 218 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.88 |
| 219 | Epilepsy, idiopathic generalized | Enrichment | CACNA1H | 1.86 |
| 220 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.81 |
| 221 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.81 |
| 222 | Moyamoya angiopathy | Enrichment | ABL1 | 1.81 |
| 223 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1 | 1.81 |
| 224 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.81 |
| 225 | Mccune-albright syndrome | Enrichment | GNAS | 1.81 |
| 226 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.81 |
| 227 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14 | 1.81 |
| 228 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.81 |
| 229 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD | 1.81 |
| 230 | Anus, imperforate | Enrichment | CTNNB1 | 1.81 |
| 231 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.81 |
| 232 | Desmoid tumor | Enrichment | CTNNB1 | 1.81 |
| 233 | Immunodeficiency 14 | Enrichment | PIK3CD | 1.81 |
| 234 | Cushing syndrome due to bilateral macronodular adrenocortical disease | Enrichment | GNAS | 1.81 |
| 235 | Hypomyelination neuropathy-arthrogryposis syndrome | Enrichment | ADCY6 | 1.81 |
| 236 | Keratoacanthoma | Enrichment | PIK3CA | 1.81 |
| 237 | Ovarian cancer | Enrichment | AKT1, CTNNB1, PIK3CA | 1.80 |
| 238 | Neural tube defects | Enrichment | ITGB1 | 1.79 |
| 239 | Chromosome 1p36 deletion syndrome | Enrichment | HSPG2 | 1.79 |
| 240 | Coronary heart disease 5 | Enrichment | IKBKG | 1.70 |
| 241 | Lung cancer | Enrichment | PIK3CA, PPP2R1B | 1.69 |
| 242 | Chorea, benign hereditary | Enrichment | ADCY5 | 1.68 |
| 243 | Spastic paraplegia 17, autosomal dominant | Enrichment | GNG3 | 1.68 |
| 244 | Pseudohypoparathyroidism, type ib | Enrichment | GNAS | 1.68 |
| 245 | Lipodystrophy, congenital generalized, type 2 | Enrichment | GNG3 | 1.68 |
| 246 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.68 |
| 247 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.68 |
| 248 | Pilomatrixoma | Enrichment | CTNNB1 | 1.68 |
| 249 | Carney complex variant | Enrichment | PRKAR1A | 1.68 |
| 250 | Arrhythmogenic right ventricular dysplasia, familial, 10 | Enrichment | PRKAR1A | 1.68 |
| 251 | Alazami syndrome | Enrichment | CTNNB1 | 1.68 |
| 252 | Cerebrovascular disease | Enrichment | PIK3CA | 1.68 |
| 253 | Craniopharyngioma | Enrichment | CTNNB1 | 1.68 |
| 254 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.68 |
| 255 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.68 |
| 256 | Familial sick sinus syndrome | Enrichment | GNB2 | 1.68 |
| 257 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.66 |
| 258 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA | 1.65 |
| 259 | Alzheimer disease 2 | Enrichment | NOS3 | 1.59 |
| 260 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.59 |
| 261 | Pre-eclampsia | Enrichment | NOS3 | 1.59 |
| 262 | Genetic motor neuron disease | Enrichment | TRPV4 | 1.59 |
| 263 | Myocardial infarction | Enrichment | ITGB3 | 1.56 |
| 264 | Body mass index quantitative trait locus 11 | Enrichment | ADCY3, GNAS | 1.55 |
| 265 | Microphthalmia/coloboma 12 | Enrichment | YAP1 | 1.55 |
| 266 | Heart disease | Enrichment | ABL1 | 1.52 |
| 267 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.51 |
| 268 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.51 |
| 269 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.51 |
| 270 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.51 |
| 271 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.51 |
| 272 | Coloboma of macula | Enrichment | YAP1 | 1.49 |
| 273 | Gliosarcoma | Enrichment | NFKBIA | 1.46 |
| 274 | Severe covid-19 | Enrichment | ITGAV | 1.45 |
| 275 | Nevus, epidermal | Enrichment | PIK3CA | 1.44 |
| 276 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.44 |
| 277 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.44 |
| 278 | Brachydactyly | Enrichment | GNAS | 1.44 |
| 279 | Overgrowth syndrome | Enrichment | MTOR | 1.44 |
| 280 | Giant cell glioblastoma | Enrichment | NFKBIA | 1.43 |
| 281 | Spastic paraplegia 4, autosomal dominant | Enrichment | GNAS | 1.39 |
| 282 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.39 |
| 283 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.39 |
| 284 | Hypothyroidism | Enrichment | GNB1 | 1.39 |
| 285 | Arteriovenous malformation | Enrichment | PIK3CA | 1.34 |
| 286 | Systemic lupus erythematosus | Enrichment | SPP1 | 1.32 |
| 287 | Malaria | Enrichment | IKBKG | 1.30 |
| 288 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.30 |
| 289 | Stroke, ischemic | Enrichment | NOS3 | 1.29 |
| 290 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.29 |
| 291 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD | 1.29 |
| 292 | Primary bone dysplasia | Enrichment | TRPV4 | 1.29 |
| 293 | Microcephaly | Enrichment | ABL1, CTNNB1, GNB1 | 1.27 |
| 294 | Leukemia, acute lymphoblastic | Enrichment | GNB1 | 1.25 |
| 295 | Myelodysplastic syndrome | Enrichment | GNB1 | 1.25 |
| 296 | Osteochondrodysplasia | Enrichment | TRPV4 | 1.25 |
| 297 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.25 |
| 298 | Myeloma, multiple | Enrichment | PIK3R2, YAP1 | 1.24 |
| 299 | Thrombocytopenia | Enrichment | ITGB3 | 1.23 |
| 300 | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Enrichment | TRPV4 | 1.18 |
| 301 | Acute promyelocytic leukemia | Enrichment | PRKAR1A | 1.18 |
| 302 | Clubfoot | Enrichment | TRPV4 | 1.18 |
| 303 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.18 |
| 304 | Undetermined early-onset epileptic encephalopathy | Enrichment | CACNA2D1 | 1.17 |
| 305 | Severe combined immunodeficiency | Enrichment | IKBKB | 1.15 |
| 306 | Medulloblastoma | Enrichment | CTNNB1 | 1.15 |
| 307 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.12 |
| 308 | Lynch syndrome | Enrichment | PIK3CA | 1.12 |
| 309 | Rare genetic intellectual disability | Enrichment | MTOR | 1.12 |
| 310 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 1.07 |
| 311 | Cleft palate, isolated | Enrichment | GNB1 | 1.07 |
| 312 | Sudden infant death syndrome | Enrichment | CALM2 | 1.07 |
| 313 | Polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 314 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 1.07 |
| 315 | Type 2 diabetes mellitus | Enrichment | PTPN1 | 1.05 |
| 316 | Beckwith-wiedemann syndrome | Enrichment | TRPV4 | 1.04 |
| 317 | Neuromuscular disease | Enrichment | TRPV4 | 1.04 |
| 318 | Nephrotic syndrome | Enrichment | FN1 | 1.04 |
| 319 | Endometrial cancer | Enrichment | PIK3CA | 0.98 |
| 320 | Hepatoblastoma | Enrichment | CTNNB1 | 0.98 |
| 321 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | GJA1 | 0.97 |
| 322 | Congenital nervous system abnormality | Enrichment | CTNNB1, GNB5 | 0.97 |
| 323 | Nervous system disease | Enrichment | CTNNB1, GNB5 | 0.97 |
| 324 | Attention deficit-hyperactivity disorder | Enrichment | GNB5 | 0.96 |
| 325 | Familial isolated dilated cardiomyopathy | Enrichment | VCL | 0.95 |
| 326 | Congenital stationary night blindness | Enrichment | GNB3 | 0.94 |
| 327 | Strabismus | Enrichment | GNB1 | 0.88 |
| 328 | Prostate cancer | Enrichment | PIK3CA | 0.85 |
| 329 | Connective tissue disease | Enrichment | TRPV4 | 0.81 |
| 330 | Dilated cardiomyopathy | Enrichment | VCL | 0.79 |
| 331 | Dystonia | Enrichment | GNB1 | 0.77 |
| 332 | Cerebral palsy | Enrichment | GNB1 | 0.73 |
| 333 | Charcot-marie-tooth disease | Enrichment | TRPV4 | 0.71 |
| 334 | Gastric cancer | Enrichment | PIK3CA | 0.69 |
| 335 | Complex neurodevelopmental disorder | Enrichment | GNB2, PPP2CA | 0.67 |
| 336 | Autosomal dominant non-syndromic intellectual disability | Enrichment | GNB1 | 0.64 |
| 337 | Hypertelorism | Enrichment | PIK3CA | 0.62 |
| 338 | Primary ciliary dyskinesia | Enrichment | PRKAR1B | 0.48 |
| 339 | Autism spectrum disorder | Enrichment | GNB1 | 0.36 |
| 340 | Inherited cancer-predisposing syndrome | Enrichment | PRKAR1A | 0.30 |