| 1 | Chronic granulomatous disease | Enrichment | CYBA, CYBB, NCF1, NCF2, NCF4 | 8.64 |
| 2 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 7.04 |
| 3 | Lung non-small cell carcinoma | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 6.07 |
| 4 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 5.82 |
| 5 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 5.82 |
| 6 | Colorectal cancer | Enrichment | AKT1, CTNNA1, CTNNB1, NRAS, PIK3CA, PIK3R1, SRC | 5.49 |
| 7 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA | 5.43 |
| 8 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA | 5.13 |
| 9 | Hemangioma, capillary infantile | Enrichment | FLT4, KDR, RASA1 | 5.02 |
| 10 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, PIK3CA, RASA1 | 4.89 |
| 11 | Gallbladder cancer | Enrichment | CTNNB1, KRAS, PIK3CA | 4.89 |
| 12 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 4.69 |
| 13 | Arteriovenous malformation | Enrichment | HRAS, PIK3CA, RASA1 | 4.51 |
| 14 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, PIK3CA, RASA1 | 4.36 |
| 15 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 4.28 |
| 16 | Immunodeficiency 72 with autoinflammation and lymphoproliferation | Enrichment | NCKAP1, NCKAP1L | 4.28 |
| 17 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 4.28 |
| 18 | Immunodeficiency 72 | Enrichment | NCKAP1, NCKAP1L | 4.28 |
| 19 | Bladder cancer | Enrichment | CTNNB1, HRAS, KRAS, PIK3CA | 4.26 |
| 20 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, ITPR3 | 4.20 |
| 21 | Granulomatous disease, chronic, autosomal recessive, 2 | Enrichment | NCF1, NCF2 | 3.80 |
| 22 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 3.80 |
| 23 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 3.80 |
| 24 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, KRAS, NRAS | 3.79 |
| 25 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CTNNA1, KRAS | 3.50 |
| 26 | Granulomatous disease, chronic, x-linked | Enrichment | CYBB, NCF1 | 3.50 |
| 27 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.50 |
| 28 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 3.50 |
| 29 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 3.28 |
| 30 | Noonan syndrome 1 | Enrichment | HRAS, KRAS, NRAS | 3.22 |
| 31 | Pre-eclampsia | Enrichment | FLT1, NOS3 | 3.21 |
| 32 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.11 |
| 33 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.11 |
| 34 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 3.11 |
| 35 | Rasopathy | Enrichment | HRAS, KRAS, NRAS | 3.06 |
| 36 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, NRAS | 2.97 |
| 37 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 2.97 |
| 38 | Noonan syndrome 3 | Enrichment | HRAS, KRAS | 2.97 |
| 39 | Follicular thyroid carcinoma | Enrichment | HRAS, NRAS | 2.97 |
| 40 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 2.97 |
| 41 | Differentiated thyroid carcinoma | Enrichment | HRAS, KRAS, NRAS | 2.92 |
| 42 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, NRAS | 2.84 |
| 43 | Ellis-van creveld syndrome | Enrichment | PRKACA, PRKACB | 2.74 |
| 44 | Adult hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 2.74 |
| 45 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 2.74 |
| 46 | Non-immune hydrops fetalis | Enrichment | FLT4, HRAS, KRAS | 2.73 |
| 47 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 2.48 |
| 48 | Meningioma | Enrichment | AKT1, PIK3CA | 2.48 |
| 49 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 2.48 |
| 50 | Nk-cell enteropathy | Enrichment | AXL, PIK3CB | 2.41 |
| 51 | Hereditary breast carcinoma | Enrichment | AKT1, KRAS, PIK3CA | 2.40 |
| 52 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 2.28 |
| 53 | Ovarian cancer | Enrichment | AKT1, CTNNB1, KRAS, PIK3CA | 2.20 |
| 54 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.14 |
| 55 | Macrodactyly | Enrichment | PIK3CA | 2.14 |
| 56 | Proteus syndrome | Enrichment | AKT1 | 2.14 |
| 57 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.14 |
| 58 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.14 |
| 59 | Granulomatous disease, chronic, autosomal recessive, 4 | Enrichment | CYBA | 2.14 |
| 60 | Ramon syndrome | Enrichment | ELMO2 | 2.14 |
| 61 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.14 |
| 62 | Oculoectodermal syndrome | Enrichment | KRAS | 2.14 |
| 63 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 2.14 |
| 64 | Immunodeficiency 34 | Enrichment | CYBB | 2.14 |
| 65 | Arrhythmogenic right ventricular dysplasia, familial, 12 | Enrichment | JUP | 2.14 |
| 66 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.14 |
| 67 | Macular dystrophy, patterned, 2 | Enrichment | CTNNA1 | 2.14 |
| 68 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.14 |
| 69 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.14 |
| 70 | Melanosis, neurocutaneous | Enrichment | NRAS | 2.14 |
| 71 | Noonan syndrome 6 | Enrichment | NRAS | 2.14 |
| 72 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.14 |
| 73 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.14 |
| 74 | Naxos disease | Enrichment | JUP | 2.14 |
| 75 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.14 |
| 76 | Neurodevelopmental disorder with absent language and variable seizures | Enrichment | WASF1 | 2.14 |
| 77 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.14 |
| 78 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.14 |
| 79 | Short syndrome | Enrichment | PIK3R1 | 2.14 |
| 80 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.14 |
| 81 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.14 |
| 82 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.14 |
| 83 | Vascular malformation, primary intraosseous | Enrichment | ELMO2 | 2.14 |
| 84 | Cardioacrofacial dysplasia 2 | Enrichment | PRKACB | 2.14 |
| 85 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.14 |
| 86 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.14 |
| 87 | Microvascular complications of diabetes 1 | Enrichment | VEGFA | 2.14 |
| 88 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.14 |
| 89 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.14 |
| 90 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.14 |
| 91 | Charcot-marie-tooth disease, axonal, type 2f | Enrichment | HSPB1 | 2.14 |
| 92 | Becker nevus syndrome | Enrichment | ACTB | 2.14 |
| 93 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.14 |
| 94 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.14 |
| 95 | Long qt syndrome 16 | Enrichment | CALM3 | 2.14 |
| 96 | Cowden syndrome 6 | Enrichment | AKT1 | 2.14 |
| 97 | Pigmented nodular adrenocortical disease, primary, 4 | Enrichment | PRKACA | 2.14 |
| 98 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.14 |
| 99 | Macular dystrophy, patterned, 3 | Enrichment | MAPKAPK3 | 2.14 |
| 100 | Cardioacrofacial dysplasia 1 | Enrichment | PRKACA | 2.14 |
| 101 | Thrombocytopenia 6 | Enrichment | SRC | 2.14 |
| 102 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.14 |
| 103 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.14 |
| 104 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.14 |
| 105 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.14 |
| 106 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.14 |
| 107 | Tufted angioma of skin | Enrichment | KDR | 2.14 |
| 108 | Primary intraosseous venous malformation | Enrichment | ELMO2 | 2.14 |
| 109 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.14 |
| 110 | Long qt syndrome 15 | Enrichment | CALM2 | 2.14 |
| 111 | Baraitser-winter syndrome | Enrichment | ACTB | 2.14 |
| 112 | Hypospadias | Enrichment | PIK3CA | 2.14 |
| 113 | Capillary hemangioma | Enrichment | AKT3 | 2.14 |
| 114 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.14 |
| 115 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.14 |
| 116 | Rare venous malformation | Enrichment | PIK3CA | 2.14 |
| 117 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.14 |
| 118 | Gorham's disease | Enrichment | RASA1 | 2.14 |
| 119 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.14 |
| 120 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.14 |
| 121 | Nocarh syndrome | Enrichment | CDC42 | 2.14 |
| 122 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.14 |
| 123 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.14 |
| 124 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.14 |
| 125 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.14 |
| 126 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.14 |
| 127 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.14 |
| 128 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.14 |
| 129 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.14 |
| 130 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.14 |
| 131 | Macrodactyly of toe | Enrichment | PIK3CA | 2.14 |
| 132 | Neurocutaneous melanocytosis | Enrichment | NRAS | 2.14 |
| 133 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.14 |
| 134 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.14 |
| 135 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.14 |
| 136 | Hereditary breast ovarian cancer syndrome | Enrichment | BCAR1, CTNNA1, KRAS | 2.12 |
| 137 | Hereditary lymphedema id | Enrichment | VEGFC | 2.10 |
| 138 | Lymphatic malformation 4 | Enrichment | VEGFC | 2.10 |
| 139 | Congenital heart defects, multiple types, 7 | Enrichment | FLT4 | 2.10 |
| 140 | Congenital primary lymphedema of gordon | Enrichment | VEGFC | 2.10 |
| 141 | Primary ovarian insufficiency | Enrichment | KDR, NOS3, RICTOR | 2.04 |
| 142 | Hepatocellular carcinoma | Enrichment | CTNNB1, PIK3CA | 1.96 |
| 143 | Microcephaly | Enrichment | ACTB, ACTG1, CTNNB1, PAK3 | 1.90 |
| 144 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.84 |
| 145 | Blepharocheilodontic syndrome 1 | Enrichment | CTNND1 | 1.84 |
| 146 | Costello syndrome | Enrichment | HRAS | 1.84 |
| 147 | Granulomatous disease, chronic, autosomal recessive, 1 | Enrichment | NCF1 | 1.84 |
| 148 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.84 |
| 149 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.84 |
| 150 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 1.84 |
| 151 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.84 |
| 152 | Granulomatous disease, chronic, autosomal recessive, 3 | Enrichment | NCF4 | 1.84 |
| 153 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.84 |
| 154 | Neuronopathy, distal hereditary motor, autosomal dominant 3 | Enrichment | HSPB1 | 1.84 |
| 155 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 1.84 |
| 156 | Bleeding disorder, platelet-type, 19 | Enrichment | PRKACG | 1.84 |
| 157 | Angioma, tufted | Enrichment | KDR | 1.84 |
| 158 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.84 |
| 159 | Long qt syndrome 14 | Enrichment | CALM1 | 1.84 |
| 160 | Blepharocheilodontic syndrome 2 | Enrichment | CTNND1 | 1.84 |
| 161 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 1.84 |
| 162 | Cebalid syndrome | Enrichment | MTOR | 1.84 |
| 163 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.84 |
| 164 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.84 |
| 165 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.84 |
| 166 | Fibrolamellar carcinoma | Enrichment | PRKACA | 1.84 |
| 167 | Immune system disease | Enrichment | CDC42 | 1.84 |
| 168 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.84 |
| 169 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.84 |
| 170 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.84 |
| 171 | Teratoma | Enrichment | CTNNB1 | 1.84 |
| 172 | Wooly hair nevus | Enrichment | HRAS | 1.84 |
| 173 | Lymphatic malformation 1 | Enrichment | FLT4 | 1.80 |
| 174 | Intracranial hypertension, idiopathic | Enrichment | FLT4 | 1.80 |
| 175 | Hereditary lymphedema i | Enrichment | FLT4 | 1.80 |
| 176 | Breast cancer | Enrichment | AKT1, KRAS, PIK3CA | 1.76 |
| 177 | Tetralogy of fallot | Enrichment | FLT4, KDR | 1.74 |
| 178 | Hydrops fetalis, nonimmune | Enrichment | FLT4, HRAS | 1.74 |
| 179 | Long qt syndrome | Enrichment | CALM1, CALM2 | 1.67 |
| 180 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.66 |
| 181 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.66 |
| 182 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.66 |
| 183 | Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia | Enrichment | CYBA | 1.66 |
| 184 | Gillespie syndrome | Enrichment | ITPR1 | 1.66 |
| 185 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.66 |
| 186 | Langerhans cell histiocytosis | Enrichment | NRAS | 1.66 |
| 187 | Epidermolysis bullosa, lethal acantholytic | Enrichment | JUP | 1.66 |
| 188 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.66 |
| 189 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3R1 | 1.66 |
| 190 | Anus, imperforate | Enrichment | CTNNB1 | 1.66 |
| 191 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.66 |
| 192 | Developmental and epileptic encephalopathy 65 | Enrichment | CYFIP2 | 1.66 |
| 193 | Bacteremia 2 | Enrichment | MAPKAPK3 | 1.66 |
| 194 | Desmoid tumor | Enrichment | CTNNB1 | 1.66 |
| 195 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.66 |
| 196 | Immunodeficiency 14 | Enrichment | PIK3R1 | 1.66 |
| 197 | Spermatocytoma | Enrichment | HRAS | 1.66 |
| 198 | Butterfly-shaped pigment dystrophy | Enrichment | CTNNA1 | 1.66 |
| 199 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.66 |
| 200 | Autoimmune polyendocrine syndrome type 1 | Enrichment | CYBA | 1.66 |
| 201 | Keratoacanthoma | Enrichment | PIK3CA | 1.66 |
| 202 | Lung cancer | Enrichment | KRAS, PIK3CA | 1.64 |
| 203 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 1.54 |
| 204 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | CTNNA1 | 1.54 |
| 205 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.54 |
| 206 | Pilomatrixoma | Enrichment | CTNNB1 | 1.54 |
| 207 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.54 |
| 208 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.54 |
| 209 | Alazami syndrome | Enrichment | CTNNB1 | 1.54 |
| 210 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 1.54 |
| 211 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.54 |
| 212 | Cerebrovascular disease | Enrichment | PIK3CA | 1.54 |
| 213 | Craniopharyngioma | Enrichment | CTNNB1 | 1.54 |
| 214 | Tuberculosis | Enrichment | MAPKAPK3 | 1.54 |
| 215 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 1.54 |
| 216 | Pilocytic astrocytoma | Enrichment | KRAS | 1.54 |
| 217 | Epidermolytic nevus | Enrichment | HRAS | 1.54 |
| 218 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.54 |
| 219 | Knobloch syndrome | Enrichment | PAK2 | 1.54 |
| 220 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.54 |
| 221 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.54 |
| 222 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 1.46 |
| 223 | Alzheimer disease 2 | Enrichment | NOS3 | 1.44 |
| 224 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | HSPB1 | 1.44 |
| 225 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.44 |
| 226 | Knobloch syndrome 1 | Enrichment | PAK2 | 1.44 |
| 227 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.44 |
| 228 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.44 |
| 229 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.44 |
| 230 | Gastric cancer | Enrichment | KRAS, PIK3CA | 1.41 |
| 231 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.37 |
| 232 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.37 |
| 233 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.37 |
| 234 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.37 |
| 235 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.37 |
| 236 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.37 |
| 237 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.37 |
| 238 | Limited scleroderma | Enrichment | CAV1 | 1.37 |
| 239 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.37 |
| 240 | Cleft lip with or without cleft palate | Enrichment | CTNND1 | 1.37 |
| 241 | Thrombocytopenia | Enrichment | ITGB3, SRC | 1.32 |
| 242 | Myelofibrosis | Enrichment | SRC | 1.30 |
| 243 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.30 |
| 244 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.30 |
| 245 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.30 |
| 246 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.30 |
| 247 | Megacolon | Enrichment | AKT3 | 1.30 |
| 248 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.24 |
| 249 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.24 |
| 250 | Myeloma, multiple | Enrichment | KRAS, PIK3R2 | 1.20 |
| 251 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | NCF1 | 1.20 |
| 252 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.20 |
| 253 | Cat eye syndrome | Enrichment | ACTG1 | 1.15 |
| 254 | Stroke, ischemic | Enrichment | NOS3 | 1.15 |
| 255 | Polymicrogyria | Enrichment | AKT3 | 1.15 |
| 256 | Autosomal dominant macrothrombocytopenia | Enrichment | ITGB3 | 1.15 |
| 257 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3R1 | 1.15 |
| 258 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.11 |
| 259 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | JUP | 1.07 |
| 260 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | JUP | 1.07 |
| 261 | Congenital long qt syndrome | Enrichment | ITPR3 | 1.07 |
| 262 | Chromosome 1p36 deletion syndrome | Enrichment | PRKCZ | 1.04 |
| 263 | Protein-deficiency anemia | Enrichment | NRAS | 1.04 |
| 264 | Multiple sclerosis | Enrichment | ITPR1 | 1.01 |
| 265 | Osteoporosis | Enrichment | SRC | 1.01 |
| 266 | Medulloblastoma | Enrichment | CTNNB1 | 1.01 |
| 267 | Lung cancer susceptibility 3 | Enrichment | KRAS | 1.01 |
| 268 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | JUP | 1.01 |
| 269 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 0.98 |
| 270 | Anterior segment dysgenesis | Enrichment | ITPR1 | 0.98 |
| 271 | Rare genetic intellectual disability | Enrichment | MTOR | 0.98 |
| 272 | Wolff-parkinson-white syndrome | Enrichment | JUP | 0.96 |
| 273 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | JUP | 0.96 |
| 274 | Rhabdomyosarcoma | Enrichment | HRAS | 0.96 |
| 275 | Alzheimer disease, familial, 1 | Enrichment | NOS3 | 0.93 |
| 276 | Hypertension, essential | Enrichment | NOS3 | 0.93 |
| 277 | Sudden infant death syndrome | Enrichment | CALM2 | 0.93 |
| 278 | Polycystic liver disease | Enrichment | CTNNB1 | 0.93 |
| 279 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.93 |
| 280 | Arteriovenous malformations of the brain | Enrichment | KRAS | 0.89 |
| 281 | Williams-beuren syndrome | Enrichment | NCF1 | 0.87 |
| 282 | Craniosynostosis | Enrichment | CTNNA1 | 0.87 |
| 283 | Endometrial cancer | Enrichment | PIK3CA | 0.85 |
| 284 | Lissencephaly | Enrichment | ACTG1 | 0.85 |
| 285 | Hepatoblastoma | Enrichment | CTNNB1 | 0.85 |
| 286 | Myocardial infarction | Enrichment | ITGB3 | 0.83 |
| 287 | Malaria | Enrichment | MAPKAPK3 | 0.81 |
| 288 | Pancreatic cancer | Enrichment | KRAS | 0.78 |
| 289 | Prostate cancer | Enrichment | PIK3CA | 0.72 |
| 290 | Severe covid-19 | Enrichment | ITGAV | 0.72 |
| 291 | Cakut | Enrichment | ACTG1 | 0.66 |
| 292 | Complex neurodevelopmental disorder | Enrichment | PAK3, WASF1 | 0.64 |
| 293 | Non-syndromic genetic deafness | Enrichment | ACTG1 | 0.63 |
| 294 | Charcot-marie-tooth disease | Enrichment | HSPB1 | 0.59 |
| 295 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.58 |
| 296 | Nonsyndromic hearing loss | Enrichment | ACTG1 | 0.58 |
| 297 | Hypertelorism | Enrichment | PIK3CA | 0.50 |
| 298 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1 | 0.50 |
| 299 | Spastic ataxia | Enrichment | ITPR1 | 0.49 |
| 300 | Undetermined early-onset epileptic encephalopathy | Enrichment | CYFIP2 | 0.47 |
| 301 | Rare genetic deafness | Enrichment | ACTG1 | 0.36 |
| 302 | Dilated cardiomyopathy | Enrichment | JUP | 0.35 |
| 303 | Congenital nervous system abnormality | Enrichment | CTNNB1 | 0.27 |
| 304 | Nervous system disease | Enrichment | CTNNB1 | 0.27 |
| 305 | Inherited cancer-predisposing syndrome | Enrichment | CTNNA1 | 0.21 |
| 306 | Hereditary retinal dystrophy | Enrichment | CTNNA1 | 0.05 |
| 307 | Fundus dystrophy | Enrichment | CTNNA1 | 0.05 |