| 1 | Myopathy, x-linked, with excessive autophagy | Enrichment | EPHB4, HRAS, MAP2K1, PIK3CA, RASA1 | 10.66 |
| 2 | Arteriovenous malformation | Enrichment | EPHB4, HRAS, MAP2K1, PIK3CA, RASA1 | 10.57 |
| 3 | Capillary malformation-arteriovenous malformation 1 | Enrichment | EPHB4, MAP2K1, PIK3CA, RASA1 | 8.93 |
| 4 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1, PIK3CA | 5.63 |
| 5 | Baraitser-winter cerebrofrontofacial syndrome | Enrichment | ACTB, ACTG1 | 5.03 |
| 6 | Immune system disease | Enrichment | CDC42, PIK3CD | 4.95 |
| 7 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.74 |
| 8 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, RRAS | 4.61 |
| 9 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.47 |
| 10 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.47 |
| 11 | Alzheimer disease 4 | Enrichment | PSEN1, PSEN2 | 4.38 |
| 12 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 4.22 |
| 13 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA, PIK3R2 | 4.17 |
| 14 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 4.04 |
| 15 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 3.90 |
| 16 | Hemihyperplasia, isolated | Enrichment | PIK3CA, RHOA | 3.78 |
| 17 | Early-onset autosomal dominant alzheimer disease | Enrichment | PSEN1, PSEN2 | 3.54 |
| 18 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CLTC, GRIN1, GRIN2B, ITSN1 | 3.46 |
| 19 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 3.44 |
| 20 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA | 3.40 |
| 21 | Lymphatic malformation 5 | Enrichment | EPHB4 | 3.35 |
| 22 | Craniofrontonasal syndrome | Enrichment | EFNB1 | 3.35 |
| 23 | Prostate cancer/brain cancer susceptibility | Enrichment | EPHB2 | 3.35 |
| 24 | Bleeding disorder, platelet-type, 22 | Enrichment | EPHB2 | 3.35 |
| 25 | Ephb4-related lymphatic-related hydrops fetalis | Enrichment | EPHB4 | 3.35 |
| 26 | Vein of galen aneurysmal malformation | Enrichment | EPHB4 | 3.35 |
| 27 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 3.32 |
| 28 | Autosomal dominant macrothrombocytopenia | Enrichment | ACTN1, ITGB3 | 3.30 |
| 29 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.30 |
| 30 | Thrombocytopenia | Enrichment | ACTN1, ITGB3, SRC | 3.25 |
| 31 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1 | 3.20 |
| 32 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1, RASA1 | 3.18 |
| 33 | Hemangioma, capillary infantile | Enrichment | MYH9, RASA1 | 3.18 |
| 34 | Lymphatic malformation 1 | Enrichment | EPHB4 | 3.05 |
| 35 | Intracranial hypertension, idiopathic | Enrichment | EPHB4 | 3.05 |
| 36 | Hereditary lymphedema i | Enrichment | EPHB4 | 3.05 |
| 37 | Colorectal cancer | Enrichment | PIK3CA, PIK3R1, SRC | 2.88 |
| 38 | Lymphatic malformation 7 | Enrichment | EPHB4 | 2.88 |
| 39 | Capillary malformation-arteriovenous malformation 2 | Enrichment | EPHB4 | 2.88 |
| 40 | Intellectual developmental disorder, x-linked 30 | Enrichment | PAK3 | 2.88 |
| 41 | Knobloch syndrome 2 | Enrichment | PAK2 | 2.88 |
| 42 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.88 |
| 43 | Thrombocytopenia 6 | Enrichment | SRC | 2.88 |
| 44 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | Enrichment | RAC1 | 2.88 |
| 45 | Hydrops fetalis, nonimmune | Enrichment | EPHB4, HRAS | 2.72 |
| 46 | Rasopathy | Enrichment | HRAS, MAP2K1 | 2.72 |
| 47 | Hemifacial hyperplasia | Enrichment | EFNB1 | 2.66 |
| 48 | Bladder cancer | Enrichment | HRAS, PIK3CA | 2.62 |
| 49 | Prostate cancer | Enrichment | EPHB2, PIK3CA | 2.62 |
| 50 | Macrodactyly | Enrichment | PIK3CA | 2.60 |
| 51 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.60 |
| 52 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.60 |
| 53 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.60 |
| 54 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.60 |
| 55 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.60 |
| 56 | Developmental and epileptic encephalopathy 53 | Enrichment | SYNJ1 | 2.60 |
| 57 | Atransferrinemia | Enrichment | TF | 2.60 |
| 58 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.60 |
| 59 | Short syndrome | Enrichment | PIK3R1 | 2.60 |
| 60 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.60 |
| 61 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.60 |
| 62 | Melorheostosis | Enrichment | MAP2K1 | 2.60 |
| 63 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.60 |
| 64 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.60 |
| 65 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.60 |
| 66 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.60 |
| 67 | Hypospadias | Enrichment | PIK3CA | 2.60 |
| 68 | Rare venous malformation | Enrichment | PIK3CA | 2.60 |
| 69 | Gorham's disease | Enrichment | RASA1 | 2.60 |
| 70 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.60 |
| 71 | Nocarh syndrome | Enrichment | CDC42 | 2.60 |
| 72 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.60 |
| 73 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.60 |
| 74 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.60 |
| 75 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.60 |
| 76 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.60 |
| 77 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.60 |
| 78 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.60 |
| 79 | Macrodactyly of toe | Enrichment | PIK3CA | 2.60 |
| 80 | Intellectual developmental disorder, autosomal dominant 48 | Enrichment | RAC1 | 2.58 |
| 81 | Non-immune hydrops fetalis | Enrichment | EPHB4, HRAS | 2.57 |
| 82 | Nonsyndromic hearing loss | Enrichment | ACTG1, EPHA10, MYH14 | 2.56 |
| 83 | Baraitser-winter syndrome 1 | Enrichment | ACTB | 2.51 |
| 84 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 2.51 |
| 85 | Congenital smooth muscle hamartoma, with or without hemihypertrophy | Enrichment | ACTB | 2.51 |
| 86 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | Enrichment | ARPC1B | 2.51 |
| 87 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 2.51 |
| 88 | Becker nevus syndrome | Enrichment | ACTB | 2.51 |
| 89 | Dystonia-deafness syndrome 1 | Enrichment | ACTB | 2.51 |
| 90 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 2.51 |
| 91 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 2.51 |
| 92 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 2.51 |
| 93 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | Enrichment | RHOA | 2.51 |
| 94 | Autoinflammatory disease, systemic, with vasculitis | Enrichment | LYN | 2.51 |
| 95 | Thrombocytopenia 8, with dysmorphic features and developmental delay | Enrichment | ACTB | 2.51 |
| 96 | Neurodevelopmental disorder with language delay and seizures | Enrichment | TIAM1 | 2.51 |
| 97 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Enrichment | RHOA | 2.51 |
| 98 | Baraitser-winter syndrome | Enrichment | ACTB | 2.51 |
| 99 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 2.51 |
| 100 | Congenital smooth muscle hamartoma | Enrichment | ACTB | 2.51 |
| 101 | Developmental malformations-deafness-dystonia syndrome | Enrichment | ACTB | 2.51 |
| 102 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 2.51 |
| 103 | West syndrome | Enrichment | DNM1, GRIN1, GRIN2B | 2.50 |
| 104 | Focal segmental glomerulosclerosis 1 | Enrichment | ACTN4 | 2.47 |
| 105 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.47 |
| 106 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | Enrichment | ACTN2 | 2.47 |
| 107 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.47 |
| 108 | Congenital myopathy 8 | Enrichment | ACTN2 | 2.47 |
| 109 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.47 |
| 110 | Nemaline myopathy 7 | Enrichment | CFL2 | 2.47 |
| 111 | Cardiomyopathy, dilated, 1w | Enrichment | VCL | 2.47 |
| 112 | Actn3 deficiency | Enrichment | ACTN3 | 2.47 |
| 113 | Cardiomyopathy, familial hypertrophic, 15 | Enrichment | VCL | 2.47 |
| 114 | Bleeding disorder, platelet-type, 15 | Enrichment | ACTN1 | 2.47 |
| 115 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.47 |
| 116 | Myopathy, distal, 6, adult-onset, autosomal dominant | Enrichment | ACTN2 | 2.47 |
| 117 | Immune dysregulation, neurodevelopmental defects, and colitis | Enrichment | ITGAV | 2.47 |
| 118 | Capillary leak syndrome | Enrichment | TLN1 | 2.47 |
| 119 | Hypocalciuric hypercalcemia, familial, type iii | Enrichment | AP2S1 | 2.42 |
| 120 | Acne inversa, familial, 1 | Enrichment | NCSTN | 2.42 |
| 121 | Deafness, autosomal dominant 88 | Enrichment | EPHA10 | 2.42 |
| 122 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 2.42 |
| 123 | Alzheimer disease 18 | Enrichment | ADAM10 | 2.42 |
| 124 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 2.42 |
| 125 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 2.42 |
| 126 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 2.42 |
| 127 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 2.42 |
| 128 | Congenital insensitivity to pain with severe intellectual disability | Enrichment | CLTCL1 | 2.42 |
| 129 | Pash syndrome | Enrichment | NCSTN | 2.42 |
| 130 | Huntington's disease-like | Enrichment | PSEN2 | 2.42 |
| 131 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.38 |
| 132 | Noonan syndrome 5 | Enrichment | RAF1 | 2.38 |
| 133 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.38 |
| 134 | Neurodevelopmental disorder with involuntary movements | Enrichment | GNAO1 | 2.38 |
| 135 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.38 |
| 136 | Ventricular tachycardia, familial | Enrichment | GNAI2 | 2.38 |
| 137 | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | Enrichment | GNAI1 | 2.38 |
| 138 | Developmental and epileptic encephalopathy 17 | Enrichment | GNAO1 | 2.38 |
| 139 | Leopard syndrome 2 | Enrichment | RAF1 | 2.38 |
| 140 | Immunodeficiency 97 with autoinflammation | Enrichment | PIK3CG | 2.38 |
| 141 | Trigonitis | Enrichment | RAF1 | 2.38 |
| 142 | Gnao1-related disorder | Enrichment | GNAO1 | 2.38 |
| 143 | Silver-russell syndrome due to maternal uniparental disomy of chromosome 7 | Enrichment | GRB10 | 2.38 |
| 144 | Costello syndrome | Enrichment | HRAS | 2.30 |
| 145 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.30 |
| 146 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.30 |
| 147 | Parkinson disease 20, early-onset | Enrichment | SYNJ1 | 2.30 |
| 148 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.30 |
| 149 | Wooly hair nevus | Enrichment | HRAS | 2.30 |
| 150 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | ACTG1, MYH14, MYH9 | 2.29 |
| 151 | Knobloch syndrome | Enrichment | PAK2 | 2.28 |
| 152 | Deafness, autosomal dominant 20 | Enrichment | ACTG1 | 2.21 |
| 153 | Baraitser-winter syndrome 2 | Enrichment | ACTG1 | 2.21 |
| 154 | Developmental delay, language impairment, and ocular abnormalities | Enrichment | ARPC4 | 2.21 |
| 155 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 2.21 |
| 156 | Immunodeficiency 113 with autoimmunity and autoinflammation | Enrichment | ARPC5 | 2.21 |
| 157 | Immunodeficiency 133 | Enrichment | ARPC5 | 2.21 |
| 158 | Undetermined early-onset epileptic encephalopathy | Enrichment | CLTC, DNM1, LIMK1 | 2.20 |
| 159 | Microcephaly | Enrichment | ACTB, ACTG1, GRIN2B | 2.19 |
| 160 | Knobloch syndrome 1 | Enrichment | PAK2 | 2.18 |
| 161 | Deafness, autosomal dominant 17 | Enrichment | MYH9 | 2.17 |
| 162 | Deafness, autosomal dominant 4a | Enrichment | MYH14 | 2.17 |
| 163 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | Enrichment | MYH14 | 2.17 |
| 164 | Autosomal dominant nonsyndromic hearing loss 17 | Enrichment | MYH9 | 2.17 |
| 165 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 2.17 |
| 166 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 2.17 |
| 167 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.17 |
| 168 | Hypertelorism | Enrichment | EFNB1, PIK3CA | 2.13 |
| 169 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 2.12 |
| 170 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.12 |
| 171 | Anus, imperforate | Enrichment | MAP4K4 | 2.12 |
| 172 | Developmental and epileptic encephalopathy 31b | Enrichment | DNM1 | 2.12 |
| 173 | Large congenital melanocytic nevus | Enrichment | HRAS | 2.12 |
| 174 | Wieacker-wolff syndrome | Enrichment | RASA1 | 2.12 |
| 175 | Spermatocytoma | Enrichment | HRAS | 2.12 |
| 176 | Atypical juvenile parkinsonism | Enrichment | SYNJ1 | 2.12 |
| 177 | Keratoacanthoma | Enrichment | PIK3CA | 2.12 |
| 178 | Alzheimer disease 3 | Enrichment | PSEN1 | 2.12 |
| 179 | Pick disease of brain | Enrichment | PSEN1 | 2.12 |
| 180 | Metaphyseal anadysplasia 2 | Enrichment | MMP9 | 2.12 |
| 181 | Intellectual developmental disorder, autosomal dominant 60, with seizures | Enrichment | AP2M1 | 2.12 |
| 182 | Metaphyseal anadysplasia | Enrichment | MMP9 | 2.12 |
| 183 | Pituitary adenoma 4, acth-secreting | Enrichment | GNAI2 | 2.08 |
| 184 | Hypopituitarism | Enrichment | GNAI2 | 2.08 |
| 185 | Myelofibrosis | Enrichment | SRC | 2.03 |
| 186 | Complex neurodevelopmental disorder | Enrichment | GRIN2B, MYH10, PAK3, TIAM1 | 2.02 |
| 187 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 2.00 |
| 188 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 2.00 |
| 189 | Intellectual developmental disorder, autosomal dominant 1 | Enrichment | ITSN1 | 2.00 |
| 190 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 2.00 |
| 191 | Cerebrovascular disease | Enrichment | PIK3CA | 2.00 |
| 192 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CDC42 | 2.00 |
| 193 | Epidermolytic nevus | Enrichment | HRAS | 2.00 |
| 194 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 2.00 |
| 195 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | ITGB3 | 1.99 |
| 196 | Bleeding disorder, platelet-type, 16 | Enrichment | ITGB3 | 1.99 |
| 197 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.99 |
| 198 | Intrinsic cardiomyopathy | Enrichment | ACTN2 | 1.99 |
| 199 | Bleeding disorder, platelet-type, 24 | Enrichment | ITGB3 | 1.99 |
| 200 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.95 |
| 201 | Intellectual developmental disorder, autosomal dominant 56 | Enrichment | CLTC | 1.95 |
| 202 | Tetralogy of fallot | Enrichment | EPHB4 | 1.94 |
| 203 | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Enrichment | RAC1 | 1.93 |
| 204 | Astigmatism | Enrichment | GRIN2B | 1.91 |
| 205 | Aminoacylase 1 deficiency | Enrichment | ACTB | 1.91 |
| 206 | Pseudomyogenic hemangioendothelioma | Enrichment | ACTB | 1.91 |
| 207 | Developmental and epileptic encephalopathy 31a | Enrichment | DNM1 | 1.90 |
| 208 | Hemimegalencephaly | Enrichment | PIK3CA | 1.90 |
| 209 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.90 |
| 210 | Aortic aneurysm, familial thoracic 4 | Enrichment | MYH11 | 1.87 |
| 211 | Cataract 35 | Enrichment | MYH9 | 1.87 |
| 212 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | Enrichment | MYH11 | 1.87 |
| 213 | Pseudosarcomatous fibromatosis | Enrichment | MYH9 | 1.87 |
| 214 | Visceral myopathy 2 | Enrichment | MYH11 | 1.87 |
| 215 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | Enrichment | MYL9 | 1.87 |
| 216 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | PIK3R2 | 1.87 |
| 217 | Familial isolated dilated cardiomyopathy | Enrichment | ACTN2, VCL | 1.86 |
| 218 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.83 |
| 219 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.83 |
| 220 | Breast adenocarcinoma | Enrichment | PIK3CA | 1.83 |
| 221 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.83 |
| 222 | Dowling-degos disease 1 | Enrichment | ADAM10 | 1.83 |
| 223 | Dowling-degos disease | Enrichment | PSENEN | 1.83 |
| 224 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | Enrichment | CLTC | 1.83 |
| 225 | Breast cancer | Enrichment | PIK3CA, SHC1 | 1.82 |
| 226 | Coloboma of choroid and retina | Enrichment | ACTG1 | 1.81 |
| 227 | Sleep disorder | Enrichment | GRIN2B | 1.81 |
| 228 | Auriculocondylar syndrome 1 | Enrichment | GNAI3 | 1.78 |
| 229 | Achromatopsia 4 | Enrichment | GNAI3 | 1.78 |
| 230 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.78 |
| 231 | Martsolf syndrome 1 | Enrichment | ARHGAP35 | 1.77 |
| 232 | Glanzmann thrombasthenia 2 | Enrichment | ITGB3 | 1.77 |
| 233 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1 | 1.77 |
| 234 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS | 1.76 |
| 235 | Gallbladder cancer | Enrichment | PIK3CA | 1.76 |
| 236 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.76 |
| 237 | Follicular thyroid carcinoma | Enrichment | HRAS | 1.76 |
| 238 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.76 |
| 239 | Osteoporosis | Enrichment | SRC | 1.73 |
| 240 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.73 |
| 241 | Dementia | Enrichment | PSEN1 | 1.73 |
| 242 | Aniridia | Enrichment | EPHA2 | 1.73 |
| 243 | Renal hypodysplasia/aplasia 1 | Enrichment | MAP4K4 | 1.70 |
| 244 | Lennox-gastaut syndrome | Enrichment | DNM1 | 1.70 |
| 245 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | MYH9 | 1.70 |
| 246 | Tricuspid valve insufficiency | Enrichment | MYH11 | 1.70 |
| 247 | Anterior segment dysgenesis 5 | Enrichment | ARHGAP35 | 1.70 |
| 248 | Limited scleroderma | Enrichment | CAV1 | 1.70 |
| 249 | Fetomaternal alloimmune thrombocytopenia 1 | Enrichment | ITGB3 | 1.70 |
| 250 | Typical nemaline myopathy | Enrichment | CFL2 | 1.70 |
| 251 | Coronary heart disease 5 | Enrichment | KALRN | 1.65 |
| 252 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.65 |
| 253 | Cowden syndrome | Enrichment | PIK3CA | 1.65 |
| 254 | Inflammatory myofibroblastic tumor | Enrichment | CLTC | 1.65 |
| 255 | Glanzmann thrombasthenia 1 | Enrichment | ITGB3 | 1.63 |
| 256 | Non-syndromic genetic deafness | Enrichment | ACTG1, MYH14 | 1.62 |
| 257 | Semantic dementia | Enrichment | PSEN1 | 1.58 |
| 258 | Renal cell carcinoma with mit translocations | Enrichment | CLTC | 1.58 |
| 259 | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | Enrichment | MYH11 | 1.58 |
| 260 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | Enrichment | MYH11 | 1.58 |
| 261 | Mitral valve insufficiency | Enrichment | MYH11 | 1.58 |
| 262 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.54 |
| 263 | Juvenile myelomonocytic leukemia | Enrichment | RRAS | 1.53 |
| 264 | Early-onset parkinson's disease | Enrichment | SYNJ1 | 1.53 |
| 265 | Meningioma | Enrichment | PIK3CA | 1.53 |
| 266 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 1.53 |
| 267 | Dilated cardiomyopathy | Enrichment | ACTN2, VCL | 1.52 |
| 268 | Cat eye syndrome | Enrichment | ACTG1 | 1.52 |
| 269 | Stereotypic movement disorder | Enrichment | DNM1 | 1.49 |
| 270 | Visceral myopathy 1 | Enrichment | MYH11 | 1.48 |
| 271 | Deafness, autosomal recessive 63 | Enrichment | MYH9 | 1.48 |
| 272 | Congenital ptosis | Enrichment | MYH10 | 1.48 |
| 273 | Choreatic disease | Enrichment | GNAO1 | 1.48 |
| 274 | Myoclonic-atonic epilepsy | Enrichment | AP2M1 | 1.48 |
| 275 | Progressive non-fluent aphasia | Enrichment | PSEN1 | 1.48 |
| 276 | Behavioral variant of frontotemporal dementia | Enrichment | PSEN1 | 1.48 |
| 277 | Peters-plus syndrome | Enrichment | ARHGAP35 | 1.48 |
| 278 | Combined immunodeficiency | Enrichment | ARPC1B | 1.47 |
| 279 | Combined t cell and b cell immunodeficiency | Enrichment | ARPC1B | 1.47 |
| 280 | Combined t and b cell immunodeficiency | Enrichment | ARPC1B | 1.47 |
| 281 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.44 |
| 282 | Lynch syndrome | Enrichment | PIK3CA | 1.43 |
| 283 | Rhabdomyosarcoma | Enrichment | HRAS | 1.40 |
| 284 | Intestinal pseudo-obstruction | Enrichment | MYH11 | 1.40 |
| 285 | Frontotemporal dementia 1 | Enrichment | PSEN1 | 1.39 |
| 286 | Neural tube defects | Enrichment | ITGB1 | 1.36 |
| 287 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.36 |
| 288 | Movement disease | Enrichment | GNAO1 | 1.34 |
| 289 | Arteriovenous malformations of the brain | Enrichment | MAP4K4 | 1.33 |
| 290 | Esophageal atresia/tracheoesophageal fistula | Enrichment | ITSN1 | 1.33 |
| 291 | Alzheimer's disease | Enrichment | PSEN1 | 1.32 |
| 292 | Endometrial cancer | Enrichment | PIK3CA | 1.29 |
| 293 | Cataract | Enrichment | EPHA2 | 1.29 |
| 294 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | ACTN2 | 1.28 |
| 295 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.27 |
| 296 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 1.27 |
| 297 | Familial thoracic aortic aneurysm and dissection | Enrichment | MYH11 | 1.23 |
| 298 | Williams-beuren syndrome | Enrichment | LIMK1 | 1.22 |
| 299 | Craniosynostosis | Enrichment | GRIN2B | 1.22 |
| 300 | Developmental and epileptic encephalopathy 1 | Enrichment | SYNJ1 | 1.22 |
| 301 | Rare genetic intellectual disability | Enrichment | GNAO1 | 1.21 |
| 302 | Alzheimer disease, familial, 1 | Enrichment | PSEN1 | 1.21 |
| 303 | Cataract 44 | Enrichment | EPHA2 | 1.21 |
| 304 | Lissencephaly | Enrichment | ACTG1 | 1.20 |
| 305 | Early-onset nuclear cataract | Enrichment | EPHA2 | 1.18 |
| 306 | Centronuclear myopathy | Enrichment | CFL2 | 1.16 |
| 307 | Differentiated thyroid carcinoma | Enrichment | HRAS | 1.15 |
| 308 | Scoliosis | Enrichment | GRIN2B | 1.14 |
| 309 | Myocardial infarction | Enrichment | ITGB3 | 1.14 |
| 310 | Lung cancer | Enrichment | PIK3CA | 1.11 |
| 311 | Skin disease | Enrichment | NCSTN | 1.10 |
| 312 | Microphthalmia/coloboma 12 | Enrichment | MYH10 | 1.08 |
| 313 | Aortic aneurysm, familial thoracic 1 | Enrichment | MYH11 | 1.05 |
| 314 | Severe covid-19 | Enrichment | ITGAV | 1.03 |
| 315 | Coloboma of macula | Enrichment | MYH10 | 1.02 |
| 316 | Myopia | Enrichment | MYH11 | 1.02 |
| 317 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.02 |
| 318 | Rare genetic deafness | Enrichment | ACTG1, MYH9 | 1.01 |
| 319 | Cakut | Enrichment | ACTG1 | 1.00 |
| 320 | Hypertension | Enrichment | MYH9 | 0.99 |
| 321 | Gastric cancer | Enrichment | PIK3CA | 0.99 |
| 322 | Hereditary breast carcinoma | Enrichment | PIK3CA | 0.98 |
| 323 | Familial hypertrophic cardiomyopathy | Enrichment | ACTN2 | 0.97 |
| 324 | Genetic steroid-resistant nephrotic syndrome | Enrichment | ACTN4 | 0.96 |
| 325 | Left ventricular noncompaction | Enrichment | ACTN2 | 0.95 |
| 326 | Cerebral palsy | Enrichment | GRIN2B | 0.94 |
| 327 | Epilepsy | Enrichment | GRIN2B | 0.93 |
| 328 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1 | 0.92 |
| 329 | Centralopathic epilepsy | Enrichment | GRIN1 | 0.90 |
| 330 | Nephrotic syndrome | Enrichment | FN1 | 0.87 |
| 331 | Hypertrophic cardiomyopathy | Enrichment | ACTN2 | 0.87 |
| 332 | Developmental and epileptic encephalopathy | Enrichment | GNAO1 | 0.85 |
| 333 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 0.78 |
| 334 | Myeloma, multiple | Enrichment | PIK3R2 | 0.76 |
| 335 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | PSEN1 | 0.71 |
| 336 | Ovarian cancer | Enrichment | PIK3CA | 0.65 |
| 337 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.62 |
| 338 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | MYH11 | 0.59 |
| 339 | Body mass index quantitative trait locus 11 | Enrichment | MYH9 | 0.54 |
| 340 | Congenital nervous system abnormality | Enrichment | PSEN1 | 0.48 |
| 341 | Nervous system disease | Enrichment | PSEN1 | 0.48 |
| 342 | Deafness, autosomal recessive | Enrichment | MYH9 | 0.46 |
| 343 | Autosomal recessive nonsyndromic deafness | Enrichment | MYH9 | 0.46 |
| 344 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MYH9 | 0.35 |