| 1 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 8.28 |
| 2 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA | 7.68 |
| 3 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 6.87 |
| 4 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, DVL3, FZD2, WNT5A | 6.87 |
| 5 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, KRAS, MAP2K1, MAP2K2 | 6.87 |
| 6 | Autosomal dominant robinow syndrome | Enrichment | DVL1, DVL3, FZD2, WNT5A | 6.87 |
| 7 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 6.76 |
| 8 | Rasopathy | Enrichment | BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1 | 6.35 |
| 9 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, DVL3, FZD2, WNT5A | 6.17 |
| 10 | Autosomal recessive robinow syndrome | Enrichment | DVL1, DVL3, FZD2, WNT5A | 5.70 |
| 11 | Breast adenocarcinoma | Enrichment | AKT1, KRAS, PIK3CA, RB1CC1 | 5.70 |
| 12 | Alzheimer's disease | Enrichment | APOE, APP, MAPT, PSEN1, TNF | 5.53 |
| 13 | Nevus, epidermal | Enrichment | HRAS, KRAS, NRAS, PIK3CA | 5.34 |
| 14 | Gallbladder cancer | Enrichment | BRAF, CTNNB1, KRAS, PIK3CA | 5.34 |
| 15 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1, NRAS | 5.15 |
| 16 | Osteoporosis, juvenile | Enrichment | DKK1, WNT1, WNT3A | 5.15 |
| 17 | Alzheimer disease 4 | Enrichment | APOE, PSEN1, PSEN2 | 5.15 |
| 18 | Tubulinopathy-associated dysgyria | Enrichment | TUBA1A, TUBB2B, TUBB3 | 5.15 |
| 19 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, NRAS, RAF1 | 5.05 |
| 20 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CASP8, CTNNB1, PIK3CA | 4.80 |
| 21 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS, KRAS, NRAS | 4.55 |
| 22 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 4.55 |
| 23 | Tubulinopathy | Enrichment | TUBA1A, TUBB2A, TUBB2B | 4.55 |
| 24 | Craniopharyngioma | Enrichment | APC, BRAF, CTNNB1 | 4.55 |
| 25 | Lissencephaly | Enrichment | TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3 | 4.39 |
| 26 | Colorectal cancer | Enrichment | AKT1, APC, AXIN2, BRAF, CTNNB1, FZD3, NRAS, PIK3CA, PIK3R1 | 4.35 |
| 27 | Hepatocellular carcinoma | Enrichment | APC, AXIN1, CASP8, CTNNB1, PIK3CA | 4.28 |
| 28 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, DVL3, FZD2 | 4.16 |
| 29 | Hemimegalencephaly | Enrichment | AKT3, MTOR, PIK3CA | 4.16 |
| 30 | Congenital fibrosis of the extraocular muscles | Enrichment | TUBA1A, TUBB2B, TUBB3 | 3.86 |
| 31 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, NRAS | 3.63 |
| 32 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS, MAP2K1, PIK3CA | 3.63 |
| 33 | Noonan syndrome 3 | Enrichment | HRAS, KRAS, RAF1 | 3.63 |
| 34 | Pilomyxoid astrocytoma | Enrichment | BRAF, KRAS, RAF1 | 3.63 |
| 35 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, NRAS | 3.63 |
| 36 | Early-onset autosomal dominant alzheimer disease | Enrichment | APP, PSEN1, PSEN2 | 3.63 |
| 37 | Alzheimer disease, familial, 1 | Enrichment | APOE, APP, MAPT, PSEN1 | 3.58 |
| 38 | Lung cancer | Enrichment | BRAF, CASP8, FAS, KRAS, PIK3CA | 3.47 |
| 39 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 3.43 |
| 40 | Alzheimer disease 3 | Enrichment | APOE, PSEN1 | 3.43 |
| 41 | Pick disease of brain | Enrichment | MAPT, PSEN1 | 3.43 |
| 42 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS, NRAS | 3.43 |
| 43 | Robinow syndrome, autosomal dominant 3 | Enrichment | DVL3, FZD2 | 3.43 |
| 44 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA | 3.26 |
| 45 | Breast cancer | Enrichment | AKT1, APC, CASP8, KLC1, KRAS, PIK3CA, RB1CC1 | 3.22 |
| 46 | Tooth agenesis | Enrichment | AXIN2, LRP6, WNT10A, WNT10B | 3.12 |
| 47 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA | 3.11 |
| 48 | Desmoid disease, hereditary | Enrichment | APC, CTNNB1 | 2.96 |
| 49 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 2.96 |
| 50 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 2.96 |
| 51 | Large congenital melanocytic nevus | Enrichment | HRAS, NRAS | 2.96 |
| 52 | Desmoid tumor | Enrichment | APC, CTNNB1 | 2.96 |
| 53 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 2.96 |
| 54 | Type 2 diabetes mellitus | Enrichment | AKT2, IL6, INSR, IRS1, IRS2 | 2.91 |
| 55 | Lip and oral cavity carcinoma | Enrichment | BRAF, HRAS, PIK3CA | 2.86 |
| 56 | Hereditary breast carcinoma | Enrichment | AKT1, APC, KRAS, PIK3CA, RB1CC1 | 2.82 |
| 57 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 2.66 |
| 58 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS, NRAS | 2.66 |
| 59 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 2.66 |
| 60 | Bladder cancer | Enrichment | CTNNB1, HRAS, KRAS, PIK3CA | 2.66 |
| 61 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS, KRAS, NRAS | 2.66 |
| 62 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, ITPR3 | 2.60 |
| 63 | Capillary malformations, congenital | Enrichment | GNAQ, PIK3CA | 2.45 |
| 64 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1, LRP5 | 2.45 |
| 65 | Dementia | Enrichment | MAPT, PSEN1 | 2.45 |
| 66 | Polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 2.40 |
| 67 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1, LRP5, LRP6 | 2.40 |
| 68 | Klippel-trenaunay-weber syndrome | Enrichment | GNAQ, PIK3CA | 2.28 |
| 69 | Melanoma, uveal | Enrichment | GNAQ, PLCB4 | 2.28 |
| 70 | Type 1 diabetes mellitus | Enrichment | IL6, INS | 2.28 |
| 71 | Lung squamous cell carcinoma | Enrichment | KRAS, PIK3CA | 2.28 |
| 72 | Arteriovenous malformations of the brain | Enrichment | BRAF, IL6, KRAS | 2.26 |
| 73 | Polymicrogyria, bilateral perisylvian, x-linked | Enrichment | TUBA1A, TUBB2B | 2.14 |
| 74 | Leukemia, chronic myeloid | Enrichment | KRAS, NRAS | 2.14 |
| 75 | Semantic dementia | Enrichment | MAPT, PSEN1 | 2.14 |
| 76 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 2.14 |
| 77 | Gastric cancer | Enrichment | APC, IL1B, KRAS, PIK3CA | 2.03 |
| 78 | Exudative vitreoretinopathy | Enrichment | CTNNB1, LRP5 | 2.02 |
| 79 | Isolated split hand-split foot malformation | Enrichment | SEM1, WNT10B | 2.02 |
| 80 | West syndrome | Enrichment | CSNK1E, GRIN1, GRIN2B, TUBA1A | 2.00 |
| 81 | Bilateral perisylvian polymicrogyria | Enrichment | TUBA1A, TUBB2B | 1.91 |
| 82 | Progressive non-fluent aphasia | Enrichment | MAPT, PSEN1 | 1.91 |
| 83 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 1.91 |
| 84 | Behavioral variant of frontotemporal dementia | Enrichment | MAPT, PSEN1 | 1.91 |
| 85 | Ovarian cancer | Enrichment | AKT1, APC, AXIN2, CTNNB1, KRAS, PIK3CA | 1.87 |
| 86 | Polymicrogyria | Enrichment | AKT3, PSMC3 | 1.82 |
| 87 | Autosomal dominant macrothrombocytopenia | Enrichment | TUBA8, TUBB1 | 1.82 |
| 88 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 1.82 |
| 89 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CSNK2B, GRIN1, GRIN2B, PPP3CA | 1.81 |
| 90 | Frontotemporal dementia 1 | Enrichment | MAPT, PSEN1 | 1.74 |
| 91 | Periodic fever, familial, autosomal dominant | Enrichment | TNFRSF1A | 1.71 |
| 92 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 1.71 |
| 93 | Chiari malformation type i | Enrichment | DKK1 | 1.71 |
| 94 | Macrodactyly | Enrichment | PIK3CA | 1.71 |
| 95 | Proteus syndrome | Enrichment | AKT1 | 1.71 |
| 96 | Pyloric stenosis, infantile hypertrophic, 1 | Enrichment | NOS1 | 1.71 |
| 97 | Skin creases, congenital symmetric circumferential, 1 | Enrichment | TUBB | 1.71 |
| 98 | Endosteal hyperostosis, autosomal dominant | Enrichment | LRP5 | 1.71 |
| 99 | Nail disorder, nonsyndromic congenital, 1 | Enrichment | FZD6 | 1.71 |
| 100 | Parkinson disease 1, autosomal dominant | Enrichment | SNCA | 1.71 |
| 101 | Mullerian aplasia and hyperandrogenism | Enrichment | WNT4 | 1.71 |
| 102 | Thyrotoxic periodic paralysis 1 | Enrichment | CACNA1S | 1.71 |
| 103 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 1.71 |
| 104 | Atrophoderma vermiculata | Enrichment | LRP1 | 1.71 |
| 105 | Donohue syndrome | Enrichment | INSR | 1.71 |
| 106 | Epilepsy, focal, with speech disorder and with or without impaired intellectual development | Enrichment | GRIN2A | 1.71 |
| 107 | Hypothyroidism, congenital, nongoitrous, 9 | Enrichment | IRS4 | 1.71 |
| 108 | Sea-blue histiocyte disease | Enrichment | APOE | 1.71 |
| 109 | Hsd10 mitochondrial disease | Enrichment | HSD17B10 | 1.71 |
| 110 | Oculoectodermal syndrome | Enrichment | KRAS | 1.71 |
| 111 | Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | Enrichment | TUBB3 | 1.71 |
| 112 | Pallister-killian syndrome | Enrichment | ARAF | 1.71 |
| 113 | Bone mineral density quantitative trait locus 1 | Enrichment | LRP5 | 1.71 |
| 114 | Exudative vitreoretinopathy 4 | Enrichment | LRP5 | 1.71 |
| 115 | Spastic paraplegia 10, autosomal dominant | Enrichment | KIF5A | 1.71 |
| 116 | Hyperinsulinemic hypoglycemia, familial, 5 | Enrichment | INSR | 1.71 |
| 117 | Immunodeficiency 34 | Enrichment | CYBB | 1.71 |
| 118 | Oligodontia-colorectal cancer syndrome | Enrichment | AXIN2 | 1.71 |
| 119 | Noonan syndrome 5 | Enrichment | RAF1 | 1.71 |
| 120 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | Enrichment | INSR | 1.71 |
| 121 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | Enrichment | INSR | 1.71 |
| 122 | Caspase 8 deficiency | Enrichment | CASP8 | 1.71 |
| 123 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | Enrichment | WNT4 | 1.71 |
| 124 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 | Enrichment | SLC25A4 | 1.71 |
| 125 | Melorheostosis, isolated | Enrichment | MAP2K1 | 1.71 |
| 126 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 1.71 |
| 127 | Omodysplasia 2 | Enrichment | FZD2 | 1.71 |
| 128 | Noonan syndrome 7 | Enrichment | BRAF | 1.71 |
| 129 | Leopard syndrome 3 | Enrichment | BRAF | 1.71 |
| 130 | Acne inversa, familial, 1 | Enrichment | NCSTN | 1.71 |
| 131 | Lipoprotein glomerulopathy | Enrichment | APOE | 1.71 |
| 132 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 1.71 |
| 133 | Cowden syndrome 5 | Enrichment | PIK3CA | 1.71 |
| 134 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 1.71 |
| 135 | Keratosis pilaris atrophicans | Enrichment | LRP1 | 1.71 |
| 136 | Split-hand/foot malformation 6 | Enrichment | WNT10B | 1.71 |
| 137 | Melanosis, neurocutaneous | Enrichment | NRAS | 1.71 |
| 138 | Tooth agenesis, selective, 7 | Enrichment | LRP6 | 1.71 |
| 139 | Parkinson disease 4, autosomal dominant | Enrichment | SNCA | 1.71 |
| 140 | Cortical dysplasia, complex, with other brain malformations 6 | Enrichment | TUBB | 1.71 |
| 141 | Spinocerebellar ataxia 43 | Enrichment | MME | 1.71 |
| 142 | Macrothrombocytopenia, isolated, 1, autosomal dominant | Enrichment | TUBB1 | 1.71 |
| 143 | Caudal duplication anomaly | Enrichment | AXIN1 | 1.71 |
| 144 | Noonan syndrome 6 | Enrichment | NRAS | 1.71 |
| 145 | Tooth agenesis, selective, 8 | Enrichment | WNT10B | 1.71 |
| 146 | Fetal encasement syndrome | Enrichment | CHUK | 1.71 |
| 147 | Developmental and epileptic encephalopathy 27 | Enrichment | GRIN2B | 1.71 |
| 148 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 1.71 |
| 149 | Sturge-weber syndrome | Enrichment | GNAQ | 1.71 |
| 150 | Intellectual developmental disorder with short stature and variable skeletal anomalies | Enrichment | WIPI2 | 1.71 |
| 151 | Exudative vitreoretinopathy 8 | Enrichment | LRP6 | 1.71 |
| 152 | Mitochondrial dna depletion syndrome 12b , autosomal recessive | Enrichment | SLC25A4 | 1.71 |
| 153 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 1.71 |
| 154 | Immunodeficiency 15b | Enrichment | IKBKB | 1.71 |
| 155 | Pyle disease | Enrichment | SFRP4 | 1.71 |
| 156 | Noonan syndrome 13 | Enrichment | MAPK1 | 1.71 |
| 157 | Spondylometaphyseal dysplasia with corneal dystrophy | Enrichment | PLCB3 | 1.71 |
| 158 | Neurodevelopmental disorder with microcephaly, hypotonia, and absent language | Enrichment | PSMB1 | 1.71 |
| 159 | Leber congenital amaurosis with early-onset deafness | Enrichment | TUBB4B | 1.71 |
| 160 | Congenital myopathy 20 | Enrichment | RYR3 | 1.71 |
| 161 | Immunodeficiency 15a | Enrichment | IKBKB | 1.71 |
| 162 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 1.71 |
| 163 | Congenital myopathy 18 | Enrichment | CACNA1S | 1.71 |
| 164 | Developmental and epileptic encephalopathy 91 | Enrichment | PPP3CA | 1.71 |
| 165 | Cortical dysplasia, complex, with other brain malformations 10 | Enrichment | APC2 | 1.71 |
| 166 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Enrichment | PPP3CA | 1.71 |
| 167 | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | Enrichment | EIF2AK2 | 1.71 |
| 168 | Short syndrome | Enrichment | PIK3R1 | 1.71 |
| 169 | Stankiewicz-isidor syndrome | Enrichment | PSMD12 | 1.71 |
| 170 | Diarrhea 9 | Enrichment | WNT2B | 1.71 |
| 171 | Parkinson-dementia syndrome | Enrichment | MAPT | 1.71 |
| 172 | Auriculocondylar syndrome 2a | Enrichment | PLCB4 | 1.71 |
| 173 | Cone-rod dystrophy, x-linked, 3 | Enrichment | CACNA1F | 1.71 |
| 174 | Oocyte/zygote/embryo maturation arrest 24 | Enrichment | TUBA1C | 1.71 |
| 175 | Supranuclear palsy, progressive, 1 | Enrichment | MAPT | 1.71 |
| 176 | Intellectual developmental disorder, autosomal recessive 74 | Enrichment | APC2 | 1.71 |
| 177 | Cardiomyopathy, dilated, 1v | Enrichment | PSEN2 | 1.71 |
| 178 | Mitochondrial dna depletion syndrome 12a , autosomal dominant | Enrichment | SLC25A4 | 1.71 |
| 179 | Osteoporosis-pseudoglioma syndrome | Enrichment | LRP5 | 1.71 |
| 180 | Myoclonus, intractable, neonatal | Enrichment | KIF5A | 1.71 |
| 181 | Syndromic x-linked intellectual disability type 10 | Enrichment | HSD17B10 | 1.71 |
| 182 | Coronary artery disease, autosomal dominant 2 | Enrichment | LRP6 | 1.71 |
| 183 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 1.71 |
| 184 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 1.71 |
| 185 | Primary aldosteronism, seizures, and neurologic abnormalities | Enrichment | CACNA1D | 1.71 |
| 186 | Deafness, cataract, impaired intellectual development, and polyneuropathy | Enrichment | PSMC3 | 1.71 |
| 187 | Alzheimer disease 18 | Enrichment | ADAM10 | 1.71 |
| 188 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 1.71 |
| 189 | Lymphangioma | Enrichment | BRAF | 1.71 |
| 190 | Thrombocytopenia 4 | Enrichment | CYCS | 1.71 |
| 191 | Progressive supranuclear palsy | Enrichment | MAPT | 1.71 |
| 192 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 1.71 |
| 193 | Major affective disorder 7 | Enrichment | XBP1 | 1.71 |
| 194 | Malignant hyperthermia 5 | Enrichment | CACNA1S | 1.71 |
| 195 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | Enrichment | GRIN1 | 1.71 |
| 196 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 1.71 |
| 197 | Polycystic liver disease 4 with or without kidney cysts | Enrichment | LRP5 | 1.71 |
| 198 | Phace association | Enrichment | BRAF | 1.71 |
| 199 | Amyotrophic lateral sclerosis 25 | Enrichment | KIF5A | 1.71 |
| 200 | Cerebral amyloid angiopathy, app-related | Enrichment | APP | 1.71 |
| 201 | Santos syndrome | Enrichment | WNT7A | 1.71 |
| 202 | Melorheostosis | Enrichment | MAP2K1 | 1.71 |
| 203 | Cortical dysplasia, complex, with other brain malformations 7 | Enrichment | TUBB2B | 1.71 |
| 204 | Cardiomyopathy, dilated, 1u | Enrichment | PSEN1 | 1.71 |
| 205 | Leopard syndrome 2 | Enrichment | RAF1 | 1.71 |
| 206 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | Enrichment | GRIN2B | 1.71 |
| 207 | Sinoatrial node dysfunction and deafness | Enrichment | CACNA1D | 1.71 |
| 208 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 1.71 |
| 209 | Multiple sclerosis 5 | Enrichment | TNFRSF1A | 1.71 |
| 210 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 1.71 |
| 211 | Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction | Enrichment | FADD | 1.71 |
| 212 | Long qt syndrome 16 | Enrichment | CALM3 | 1.71 |
| 213 | Cowden syndrome 6 | Enrichment | AKT1 | 1.71 |
| 214 | Oocyte/zygote/embryo maturation arrest 23 | Enrichment | TUBA4A | 1.71 |
| 215 | Cortical dysplasia, complex, with other brain malformations 2 | Enrichment | KIF5C | 1.71 |
| 216 | Reticulate acropigmentation of kitamura | Enrichment | ADAM10 | 1.71 |
| 217 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 | Enrichment | TUBA4A | 1.71 |
| 218 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 1.71 |
| 219 | Achromatopsia 7 | Enrichment | ATF6 | 1.71 |
| 220 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 1.71 |
| 221 | Microphthalmia/coloboma 11 | Enrichment | FZD5 | 1.71 |
| 222 | Acne inversa, familial, 2, with or without dowling-degos disease | Enrichment | PSENEN | 1.71 |
| 223 | Developmental and epileptic encephalopathy 101 | Enrichment | GRIN1 | 1.71 |
| 224 | Mitochondrial metabolism disease | Enrichment | SLC25A4 | 1.71 |
| 225 | Acne inversa, familial, 3 | Enrichment | PSEN1 | 1.71 |
| 226 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Enrichment | GRIN1 | 1.71 |
| 227 | Tnf receptor-associated periodic fever syndrome | Enrichment | TNFRSF1A | 1.71 |
| 228 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | Enrichment | TUBB6 | 1.71 |
| 229 | Okur-chung neurodevelopmental syndrome | Enrichment | CSNK2A1 | 1.71 |
| 230 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 1.71 |
| 231 | Dystonia 33 | Enrichment | EIF2AK2 | 1.71 |
| 232 | Classic progressive supranuclear palsy syndrome | Enrichment | MAPT | 1.71 |
| 233 | Trigonitis | Enrichment | RAF1 | 1.71 |
| 234 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 1.71 |
| 235 | Auriculocondylar syndrome 2b | Enrichment | PLCB4 | 1.71 |
| 236 | Sotos syndrome 3 | Enrichment | APC2 | 1.71 |
| 237 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 1.71 |
| 238 | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | Enrichment | MME | 1.71 |
| 239 | Macrothrombocytopenia, isolated, 2, autosomal dominant | Enrichment | TUBA8 | 1.71 |
| 240 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 1.71 |
| 241 | Long qt syndrome 15 | Enrichment | CALM2 | 1.71 |
| 242 | Lissencephaly due to tuba1a mutation | Enrichment | TUBA1A | 1.71 |
| 243 | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | Enrichment | NAE1 | 1.71 |
| 244 | Congenital myopathy 26 | Enrichment | TUBA4A | 1.71 |
| 245 | Spastic ataxia 11, autosomal dominant | Enrichment | TUBA4A | 1.71 |
| 246 | Atypical progressive supranuclear palsy syndrome | Enrichment | MAPT | 1.71 |
| 247 | Amyotrophic lateral sclerosis type 22 | Enrichment | TUBA4A | 1.71 |
| 248 | Hypospadias | Enrichment | PIK3CA | 1.71 |
| 249 | Craniodigital syndrome and intellectual disability syndrome | Enrichment | CSNK2B | 1.71 |
| 250 | Lrp5-related primary osteoporosis | Enrichment | LRP5 | 1.71 |
| 251 | Capillary hemangioma | Enrichment | AKT3 | 1.71 |
| 252 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 1.71 |
| 253 | Charcot-marie-tooth disease type 2t | Enrichment | MME | 1.71 |
| 254 | Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy | Enrichment | KLC4 | 1.71 |
| 255 | Mme-related autosomal dominant charcot marie tooth disease type 2 | Enrichment | MME | 1.71 |
| 256 | Rhabdomyolysis 2 | Enrichment | ATP2A2 | 1.71 |
| 257 | Grin2b-related neurodevelopmental disorder | Enrichment | GRIN2B | 1.71 |
| 258 | Landau-kleffner syndrome | Enrichment | GRIN2A | 1.71 |
| 259 | Congenital pulmonary airway malformation | Enrichment | KRAS | 1.71 |
| 260 | Polymicrogyria with optic nerve hypoplasia | Enrichment | TUBA8 | 1.71 |
| 261 | Rare venous malformation | Enrichment | PIK3CA | 1.71 |
| 262 | Familial adenomatous polyposis | Enrichment | APC | 1.71 |
| 263 | Diaphragmatic eventration | Enrichment | PIK3CA | 1.71 |
| 264 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 1.71 |
| 265 | Syringocystadenoma papilliferum | Enrichment | BRAF | 1.71 |
| 266 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 1.71 |
| 267 | Aldosterone-producing adenoma with seizures and neurological abnormalities | Enrichment | CACNA1D | 1.71 |
| 268 | Rare combined vascular malformation | Enrichment | PIK3CA | 1.71 |
| 269 | Ganglioglioma | Enrichment | BRAF | 1.71 |
| 270 | Cavernous lymphangioma | Enrichment | PIK3CA | 1.71 |
| 271 | Intellectual disability, autosomal dominant 8 | Enrichment | GRIN1 | 1.71 |
| 272 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 1.71 |
| 273 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 1.71 |
| 274 | Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation | Enrichment | GRIN2A | 1.71 |
| 275 | Grin2a-related disorders | Enrichment | GRIN2A | 1.71 |
| 276 | Phace syndrome | Enrichment | BRAF | 1.71 |
| 277 | Gardner syndrome | Enrichment | APC | 1.71 |
| 278 | Osteosclerosis-developmental delay-craniosynostosis syndrome | Enrichment | LRP5 | 1.71 |
| 279 | 5q22 microdeletion syndrome | Enrichment | APC | 1.71 |
| 280 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 1.71 |
| 281 | Pash syndrome | Enrichment | NCSTN | 1.71 |
| 282 | Periodic paralysis with transient compartment-like syndrome | Enrichment | CACNA1S | 1.71 |
| 283 | Attenuated familial adenomatous polyposis | Enrichment | APC | 1.71 |
| 284 | Huntington's disease-like | Enrichment | PSEN2 | 1.71 |
| 285 | Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation | Enrichment | KIF5A | 1.71 |
| 286 | Classic hairy cell leukemia | Enrichment | BRAF | 1.71 |
| 287 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 1.71 |
| 288 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 1.71 |
| 289 | Macrodactyly of toe | Enrichment | PIK3CA | 1.71 |
| 290 | Neurocutaneous melanocytosis | Enrichment | NRAS | 1.71 |
| 291 | Microcystic stromal tumor | Enrichment | CTNNB1 | 1.71 |
| 292 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 1.71 |
| 293 | Long qt syndrome | Enrichment | CACNA1S, CALM1, CALM2 | 1.67 |
| 294 | Non-immune hydrops fetalis | Enrichment | FZD6, HRAS, KRAS | 1.67 |
| 295 | Juvenile myelomonocytic leukemia | Enrichment | KRAS, NRAS | 1.67 |
| 296 | Meningioma | Enrichment | AKT1, PIK3CA | 1.67 |
| 297 | Multiple sclerosis | Enrichment | ITPR1, TNFRSF1A | 1.54 |
| 298 | Osteoporosis | Enrichment | LRP5, WNT1 | 1.54 |
| 299 | Medulloblastoma | Enrichment | APC, CTNNB1 | 1.54 |
| 300 | Lung cancer susceptibility 3 | Enrichment | BRAF, KRAS | 1.54 |
| 301 | Myopia | Enrichment | CACNA1F, SLC25A4 | 1.48 |
| 302 | Lynch syndrome | Enrichment | KRAS, PIK3CA | 1.48 |
| 303 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.42 |
| 304 | Cerebral amyloid angiopathy, cst3-related | Enrichment | APP | 1.42 |
| 305 | Dystonia 4, torsion, autosomal dominant | Enrichment | TUBB4A | 1.42 |
| 306 | Acrokeratosis verruciformis | Enrichment | ATP2A2 | 1.42 |
| 307 | Tooth agenesis, selective, 4 | Enrichment | WNT10A | 1.42 |
| 308 | Costello syndrome | Enrichment | HRAS | 1.42 |
| 309 | Hyperlipoproteinemia, type i | Enrichment | LPL | 1.42 |
| 310 | Van buchem disease | Enrichment | LRP5 | 1.42 |
| 311 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | Enrichment | EIF2AK3 | 1.42 |
| 312 | Schopf-schulz-passarge syndrome | Enrichment | WNT10A | 1.42 |
| 313 | Ulna and fibula, absence of, with severe limb deficiency | Enrichment | WNT7A | 1.42 |
| 314 | Bladder exstrophy and epispadias complex | Enrichment | WNT3 | 1.42 |
| 315 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.42 |
| 316 | Brody disease | Enrichment | ATP2A1 | 1.42 |
| 317 | Night blindness, congenital stationary, type 2a | Enrichment | CACNA1F | 1.42 |
| 318 | Odontoonychodermal dysplasia | Enrichment | WNT10A | 1.42 |
| 319 | Pulmonic stenosis | Enrichment | BRAF | 1.42 |
| 320 | Tetraamelia syndrome 1 | Enrichment | WNT3 | 1.42 |
| 321 | Spastic paraplegia, optic atrophy, and neuropathy | Enrichment | KLC2 | 1.42 |
| 322 | Hyperinsulinemic hypoglycemia, familial, 4 | Enrichment | INSR | 1.42 |
| 323 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 1.42 |
| 324 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.42 |
| 325 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.42 |
| 326 | Melanoma, cutaneous malignant 6 | Enrichment | KLC1 | 1.42 |
| 327 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 1.42 |
| 328 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.42 |
| 329 | Lipase deficiency, combined | Enrichment | LPL | 1.42 |
| 330 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 1.42 |
| 331 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | Enrichment | TUBA1A | 1.42 |
| 332 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.42 |
| 333 | Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly | Enrichment | WNT7A | 1.42 |
| 334 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.42 |
| 335 | Spastic paraplegia 76, autosomal recessive | Enrichment | CAPN1 | 1.42 |
| 336 | Albinism, oculocutaneous, type ia | Enrichment | NOX4 | 1.42 |
| 337 | Long qt syndrome 14 | Enrichment | CALM1 | 1.42 |
| 338 | Hyperproinsulinemia | Enrichment | INS | 1.42 |
| 339 | Developmental dysplasia of the hip 3 | Enrichment | LRP1 | 1.42 |
| 340 | Birk-aharoni syndrome | Enrichment | PSMC1 | 1.42 |
| 341 | Microcephaly 21, primary, autosomal recessive | Enrichment | GAPDH | 1.42 |
| 342 | Poirier-bienvenu neurodevelopmental syndrome | Enrichment | CSNK2B | 1.42 |
| 343 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.42 |
| 344 | Cebalid syndrome | Enrichment | MTOR | 1.42 |
| 345 | Keratoconus 9 | Enrichment | TUBA3D | 1.42 |
| 346 | Hyperlipoproteinemia, type iii | Enrichment | APOE | 1.42 |
| 347 | Proteasome-associated autoinflammatory syndrome 3 | Enrichment | PSMB4 | 1.42 |
| 348 | Autosomal recessive limb-girdle muscular dystrophy type 2d | Enrichment | TUBA1A | 1.42 |
| 349 | Parkinson disease 15, autosomal recessive early-onset | Enrichment | SNCA | 1.42 |
| 350 | Immunodeficiency 127 | Enrichment | TNF | 1.42 |
| 351 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.42 |
| 352 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.42 |
| 353 | Bilateral generalized polymicrogyria | Enrichment | GRIN1 | 1.42 |
| 354 | Lissencephaly 3 | Enrichment | TUBA1A | 1.42 |
| 355 | Intellectual developmental disorder, autosomal dominant 21 | Enrichment | GRIN2A | 1.42 |
| 356 | Senior-loken syndrome 7 | Enrichment | AKT3 | 1.42 |
| 357 | Developmental and epileptic encephalopathy 46 | Enrichment | GRIN2D | 1.42 |
| 358 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.42 |
| 359 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | Enrichment | KIF5A | 1.42 |
| 360 | Chromosome 15q13.3 deletion syndrome | Enrichment | CHRNA7 | 1.42 |
| 361 | Ocular melanoma | Enrichment | PLCB4 | 1.42 |
| 362 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 1.42 |
| 363 | Inflammatory skin and bowel disease, neonatal, 1 | Enrichment | ADAM17 | 1.42 |
| 364 | Cortical dysplasia, complex, with other brain malformations 1 | Enrichment | TUBB3 | 1.42 |
| 365 | Periampullary adenoma | Enrichment | APC | 1.42 |
| 366 | Familial lipoprotein lipase deficiency | Enrichment | LPL | 1.42 |
| 367 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.42 |
| 368 | Immune system disease | Enrichment | PIK3CD | 1.42 |
| 369 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 1.42 |
| 370 | Congenital disorder of glycosylation, type iw, autosomal dominant | Enrichment | CACNA1D | 1.42 |
| 371 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.42 |
| 372 | 17q24.2 microdeletion syndrome | Enrichment | PSMD12 | 1.42 |
| 373 | Charcot-marie-tooth disease, axonal, type 2t | Enrichment | MME | 1.42 |
| 374 | Torsion dystonia 4 | Enrichment | TUBB4A | 1.42 |
| 375 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.42 |
| 376 | Multiple benign circumferential skin creases on limbs | Enrichment | TUBB | 1.42 |
| 377 | Intermittent hydrarthrosis | Enrichment | TNFRSF1A | 1.42 |
| 378 | Demyelinating polyneuropathy | Enrichment | KIF5A | 1.42 |
| 379 | Rolandic epilepsy-speech dyspraxia syndrome | Enrichment | GRIN2A | 1.42 |
| 380 | Teratoma | Enrichment | CTNNB1 | 1.42 |
| 381 | Osteosclerosis | Enrichment | LRP5 | 1.42 |
| 382 | Bladder exstrophy-epispadias-cloacal exstrophy complex | Enrichment | WNT3 | 1.42 |
| 383 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.42 |
| 384 | Skeletal muscle disease | Enrichment | KIF5B | 1.42 |
| 385 | Tafro syndrome | Enrichment | MAP2K2 | 1.42 |
| 386 | Continuous spikes and waves during sleep | Enrichment | TUBA1A | 1.42 |
| 387 | Oculootodental syndrome | Enrichment | FADD | 1.42 |
| 388 | Epilepsy-aphasia spectrum | Enrichment | GRIN2A | 1.42 |
| 389 | Phakomatosis cesioflammea | Enrichment | GNAQ | 1.42 |
| 390 | Wooly hair nevus | Enrichment | HRAS | 1.42 |
| 391 | Cerebral palsy | Enrichment | GRIN2B, TUBA1A, TUBB4A | 1.41 |
| 392 | Dandy-walker syndrome | Enrichment | BRAF, TUBA1A | 1.38 |
| 393 | Behcet syndrome | Enrichment | FAS, TNFRSF1A | 1.29 |
| 394 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | KIF5A, MME | 1.29 |
| 395 | Darier-white disease | Enrichment | ATP2A2 | 1.25 |
| 396 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Enrichment | TUBB1 | 1.25 |
| 397 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.25 |
| 398 | Prognathism, mandibular | Enrichment | CSNK2B | 1.25 |
| 399 | Ataxia-telangiectasia | Enrichment | BRAF | 1.25 |
| 400 | Proteasome-associated autoinflammatory syndrome 1 | Enrichment | PSMB4 | 1.25 |
| 401 | Gillespie syndrome | Enrichment | ITPR1 | 1.25 |
| 402 | Sengers syndrome | Enrichment | SLC25A4 | 1.25 |
| 403 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.25 |
| 404 | Niemann-pick disease, type a | Enrichment | APBB1 | 1.25 |
| 405 | Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies | Enrichment | WNT4 | 1.25 |
| 406 | Microphthalmia, syndromic 9 | Enrichment | WNT7B | 1.25 |
| 407 | Menkes disease | Enrichment | EIF2AK3 | 1.25 |
| 408 | Tooth agenesis, selective, 2 | Enrichment | WNT10A | 1.25 |
| 409 | Osteopetrosis, autosomal dominant 1 | Enrichment | LRP5 | 1.25 |
| 410 | Psoriatic arthritis | Enrichment | TNF | 1.25 |
| 411 | Niemann-pick disease, type b | Enrichment | APBB1 | 1.25 |
| 412 | Leukodystrophy, hypomyelinating, 6 | Enrichment | TUBB4A | 1.25 |
| 413 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.25 |
| 414 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.25 |
| 415 | Oocyte/zygote/embryo maturation arrest 2 | Enrichment | TUBB8 | 1.25 |
| 416 | Anus, imperforate | Enrichment | CTNNB1 | 1.25 |
| 417 | Cortical dysplasia, complex, with other brain malformations 5 | Enrichment | TUBB2A | 1.25 |
| 418 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.25 |
| 419 | Auditory neuropathy and optic atrophy | Enrichment | GRIN2C | 1.25 |
| 420 | Keratosis follicularis spinulosa decalvans | Enrichment | LRP1 | 1.25 |
| 421 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.25 |
| 422 | Torsion dystonia 1 | Enrichment | EIF2AK2 | 1.25 |
| 423 | Proteosome-associated autoinflammatory syndrome | Enrichment | PSMB4 | 1.25 |
| 424 | Nail disease | Enrichment | FZD6 | 1.25 |
| 425 | Myxoid liposarcoma | Enrichment | DDIT3 | 1.25 |
| 426 | Migraine without aura | Enrichment | TNF | 1.25 |
| 427 | Spermatocytoma | Enrichment | HRAS | 1.25 |
| 428 | Tetraamelia syndrome | Enrichment | WNT3 | 1.25 |
| 429 | Colon adenocarcinoma | Enrichment | APC | 1.25 |
| 430 | Neonatal inflammatory skin and bowel disease | Enrichment | ADAM17 | 1.25 |
| 431 | Anastomosing haemangioma | Enrichment | GNAQ | 1.25 |
| 432 | Thyrotoxic periodic paralysis | Enrichment | CACNA1S | 1.25 |
| 433 | Thyroid hemiagenesis | Enrichment | PSMD3 | 1.25 |
| 434 | Keratoacanthoma | Enrichment | PIK3CA | 1.25 |
| 435 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.25 |
| 436 | Apc-associated polyposis conditions | Enrichment | APC | 1.25 |
| 437 | Hepatoblastoma | Enrichment | APC, CTNNB1 | 1.21 |
| 438 | Brittle bone disorder | Enrichment | LRP5, WNT1 | 1.14 |
| 439 | Malaria | Enrichment | NOS2, TNF | 1.14 |
| 440 | Kaposi sarcoma | Enrichment | IL6 | 1.12 |
| 441 | Dowling-degos disease 1 | Enrichment | ADAM10 | 1.12 |
| 442 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 1.12 |
| 443 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DVL2 | 1.12 |
| 444 | Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | Enrichment | WNT10A | 1.12 |
| 445 | Granulomatous disease, chronic, x-linked | Enrichment | CYBB | 1.12 |
| 446 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF | 1.12 |
| 447 | Astigmatism | Enrichment | GRIN2B | 1.12 |
| 448 | Macular degeneration, age-related, 1 | Enrichment | APOE | 1.12 |
| 449 | Autoimmune lymphoproliferative syndrome | Enrichment | FAS | 1.12 |
| 450 | Amyotrophy, monomelic | Enrichment | RYR3 | 1.12 |
| 451 | Aland island eye disease | Enrichment | CACNA1F | 1.12 |
| 452 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.12 |
| 453 | Auriculocondylar syndrome 1 | Enrichment | PLCB4 | 1.12 |
| 454 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.12 |
| 455 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.12 |
| 456 | Pilomatrixoma | Enrichment | CTNNB1 | 1.12 |
| 457 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.12 |
| 458 | Alazami syndrome | Enrichment | CTNNB1 | 1.12 |
| 459 | Enophthalmos | Enrichment | CSNK2B | 1.12 |
| 460 | Syndactyly | Enrichment | CSNK2B | 1.12 |
| 461 | Neonatal diabetes mellitus | Enrichment | INS | 1.12 |
| 462 | Dowling-degos disease | Enrichment | PSENEN | 1.12 |
| 463 | Lung sarcomatoid carcinoma | Enrichment | KRAS | 1.12 |
| 464 | Orofacial cleft | Enrichment | LRP6 | 1.12 |
| 465 | Ectodermal dysplasia | Enrichment | WNT10A | 1.12 |
| 466 | Retinopathy of prematurity | Enrichment | LRP5 | 1.12 |
| 467 | Cerebrovascular disease | Enrichment | PIK3CA | 1.12 |
| 468 | Pilocytic astrocytoma | Enrichment | KRAS | 1.12 |
| 469 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.12 |
| 470 | Epidermolytic nevus | Enrichment | HRAS | 1.12 |
| 471 | Idiopathic achalasia | Enrichment | NOS1 | 1.12 |
| 472 | Malignant hyperthermia | Enrichment | CACNA1S | 1.12 |
| 473 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.12 |
| 474 | Eyelid coloboma | Enrichment | FZD5 | 1.12 |
| 475 | Coronary artery anomaly | Enrichment | LPL | 1.12 |
| 476 | Cerebral malaria | Enrichment | TNF | 1.12 |
| 477 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.12 |
| 478 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.12 |
| 479 | Vitreoretinopathy | Enrichment | LRP5 | 1.12 |
| 480 | Orofacial clefting syndrome | Enrichment | LRP6 | 1.12 |
| 481 | Lens coloboma | Enrichment | FZD5 | 1.12 |
| 482 | Parkinson disease, late-onset | Enrichment | MAPT, SNCA | 1.11 |
| 483 | Familial isolated dilated cardiomyopathy | Enrichment | PSEN1, PSEN2, RAF1 | 1.08 |
| 484 | Developmental and epileptic encephalopathy 1 | Enrichment | CSNK1E, GRIN1 | 1.08 |
| 485 | Hydrops fetalis, nonimmune | Enrichment | FZD6, HRAS | 1.05 |
| 486 | Auditory neuropathy | Enrichment | KIF5A, TUBB4A | 1.05 |
| 487 | Microcephaly | Enrichment | CTNNB1, GRIN2B, MAPK1, PSMC3, TUBB4A | 1.05 |
| 488 | Alzheimer disease 2 | Enrichment | APOE | 1.03 |
| 489 | Sotos syndrome | Enrichment | APC2 | 1.03 |
| 490 | Hyperlipidemia, familial combined, 3 | Enrichment | LPL | 1.03 |
| 491 | Dementia, lewy body | Enrichment | SNCA | 1.03 |
| 492 | Niemann-pick disease, type c1 | Enrichment | APBB1 | 1.03 |
| 493 | Kearns-sayre syndrome | Enrichment | KIF5B | 1.03 |
| 494 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.03 |
| 495 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.03 |
| 496 | Amblyopia | Enrichment | CACNA1F | 1.03 |
| 497 | Niemann-pick disease | Enrichment | APBB1 | 1.03 |
| 498 | 2q23.1 microduplication syndrome | Enrichment | KIF5C | 1.03 |
| 499 | Vascular dementia | Enrichment | TNF | 1.03 |
| 500 | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Enrichment | WNT10A | 1.03 |
| 501 | Autosomal thrombocytopenia with normal platelets | Enrichment | CYCS | 1.03 |
| 502 | Female infertility due to oocyte meiotic arrest | Enrichment | TUBB8 | 1.03 |
| 503 | Coloboma of choroid and retina | Enrichment | FZD5 | 1.03 |
| 504 | Sleep disorder | Enrichment | GRIN2B | 1.03 |
| 505 | Myeloma, multiple | Enrichment | BRAF, KRAS, PIK3R2 | 1.03 |
| 506 | Developmental dysplasia of the hip 1 | Enrichment | PSMC3 | 0.96 |
| 507 | Coloboma of optic nerve | Enrichment | FZD5 | 0.96 |
| 508 | Hypokalemic periodic paralysis, type 1 | Enrichment | CACNA1S | 0.96 |
| 509 | Cowden syndrome 1 | Enrichment | PIK3CA | 0.96 |
| 510 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 0.96 |
| 511 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 | Enrichment | SLC25A4 | 0.96 |
| 512 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | PSEN1 | 0.96 |
| 513 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | Enrichment | TUBB2B | 0.96 |
| 514 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 0.96 |
| 515 | Wilms tumor 5 | Enrichment | BRAF | 0.96 |
| 516 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 0.96 |
| 517 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 0.96 |
| 518 | Diarrhea | Enrichment | WNT2B | 0.96 |
| 519 | Lipid metabolism disorder | Enrichment | APOE | 0.96 |
| 520 | Patent ductus arteriosus | Enrichment | PSMC3 | 0.96 |
| 521 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 0.96 |
| 522 | Early myoclonic encephalopathy | Enrichment | TUBA1A | 0.96 |
| 523 | 46,xy disorder of sex development | Enrichment | INSR | 0.96 |
| 524 | Multicystic kidney dysplasia | Enrichment | FZD3 | 0.96 |
| 525 | Multicystic dysplastic kidney | Enrichment | FZD3 | 0.96 |
| 526 | Peripheral nervous system disease | Enrichment | KIF5A, MME | 0.90 |
| 527 | Neuropathy | Enrichment | KIF5A, MME | 0.90 |
| 528 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 0.89 |
| 529 | Alzheimer's disease 1 | Enrichment | APP | 0.89 |
| 530 | Megacolon | Enrichment | AKT3 | 0.89 |
| 531 | Common variable immunodeficiency | Enrichment | NFKB1 | 0.89 |
| 532 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF | 0.84 |
| 533 | Lennox-gastaut syndrome | Enrichment | MAPK10 | 0.84 |
| 534 | Cryptorchidism | Enrichment | TUBA1A | 0.84 |
| 535 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 0.84 |
| 536 | Permanent neonatal diabetes mellitus | Enrichment | INS | 0.84 |
| 537 | Congenital nervous system abnormality | Enrichment | CTNNB1, PSEN1, TUBA1A, TUBB4A | 0.83 |
| 538 | Nervous system disease | Enrichment | CTNNB1, PSEN1, TUBA1A, TUBB4A | 0.83 |
| 539 | Autism spectrum disorder | Enrichment | CSNK2A1, CSNK2B, GRIN2B, MAP2K1 | 0.80 |
| 540 | Tooth agenesis, selective, 1 | Enrichment | AXIN2 | 0.79 |
| 541 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 0.79 |
| 542 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | APC2 | 0.79 |
| 543 | Charge syndrome | Enrichment | TNFRSF1A | 0.79 |
| 544 | Cryptorchidism, unilateral or bilateral | Enrichment | TUBA1A | 0.79 |
| 545 | Inflammatory bowel disease 1 | Enrichment | IL6 | 0.79 |
| 546 | Chronic granulomatous disease | Enrichment | CYBB | 0.79 |
| 547 | Primary hyperaldosteronism | Enrichment | BRAF | 0.79 |
| 548 | Ventricular septal defect | Enrichment | BRAF | 0.79 |
| 549 | Colonic benign neoplasm | Enrichment | APC | 0.79 |
| 550 | Hydrops fetalis | Enrichment | RYR3 | 0.79 |
| 551 | Cat eye syndrome | Enrichment | FZD5 | 0.75 |
| 552 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 0.75 |
| 553 | Melanoma | Enrichment | BRAF | 0.75 |
| 554 | Achromatopsia | Enrichment | ATF6 | 0.75 |
| 555 | Isolated tracheo-esophageal fistula | Enrichment | APC2 | 0.75 |
| 556 | Leukemia, acute myeloid | Enrichment | KRAS, NRAS | 0.74 |
| 557 | Epilepsy | Enrichment | GRIN2A, GRIN2B | 0.74 |
| 558 | Benign epilepsy with centrotemporal spikes | Enrichment | GRIN1, GRIN2A | 0.73 |
| 559 | Asthma | Enrichment | TNF | 0.71 |
| 560 | Diabetes mellitus | Enrichment | INS | 0.71 |
| 561 | Mitochondrial myopathy | Enrichment | SLC25A4 | 0.71 |
| 562 | Specific learning disability | Enrichment | MAPK1 | 0.71 |
| 563 | Dilated cardiomyopathy | Enrichment | BRAF, KIF5B, RAF1 | 0.70 |
| 564 | Centralopathic epilepsy | Enrichment | GRIN1, GRIN2A | 0.70 |
| 565 | Hypertrophic cardiomyopathy | Enrichment | KIF5B, SLC25A4 | 0.70 |
| 566 | Optic atrophy plus syndrome | Enrichment | CACNA1F, TUBB6 | 0.68 |
| 567 | Congenital hypothyroidism | Enrichment | TUBB1 | 0.68 |
| 568 | Early-onset parkinson's disease | Enrichment | SNCA | 0.68 |
| 569 | Congenital long qt syndrome | Enrichment | ITPR3 | 0.68 |
| 570 | Microphthalmia/coloboma 12 | Enrichment | FZD5 | 0.65 |
| 571 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 0.65 |
| 572 | Protein-deficiency anemia | Enrichment | NRAS | 0.65 |
| 573 | Nk-cell enteropathy | Enrichment | PIK3CB | 0.65 |
| 574 | Thrombocytopenia | Enrichment | CYCS, TUBB1 | 0.63 |
| 575 | Cone-rod dystrophy 6 | Enrichment | CACNA1F | 0.62 |
| 576 | Coloboma of macula | Enrichment | FZD5 | 0.60 |
| 577 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 0.60 |
| 578 | Wilms tumor 1 | Enrichment | BRAF | 0.60 |
| 579 | Corpus callosum, agenesis of | Enrichment | TUBA1A | 0.60 |
| 580 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 0.60 |
| 581 | Hydrocephalus | Enrichment | FZD3 | 0.60 |
| 582 | Anterior segment dysgenesis | Enrichment | ITPR1 | 0.60 |
| 583 | Familial hypercholesterolemia | Enrichment | APOE | 0.60 |
| 584 | Isolated corpus callosum agenesis | Enrichment | TUBA1A | 0.60 |
| 585 | Rare genetic intellectual disability | Enrichment | MTOR | 0.60 |
| 586 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | TUBA1A | 0.60 |
| 587 | Hydrocephalus, congenital, 1 | Enrichment | TUBB | 0.57 |
| 588 | Rhabdomyosarcoma | Enrichment | HRAS | 0.57 |
| 589 | Isolated congenital microcephaly | Enrichment | TUBA3E | 0.57 |
| 590 | Spastic ataxia | Enrichment | ITPR1, TUBB3 | 0.56 |
| 591 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF | 0.55 |
| 592 | Sudden infant death syndrome | Enrichment | CALM2 | 0.55 |
| 593 | Undetermined early-onset epileptic encephalopathy | Enrichment | GRIN2D, PPP3CA | 0.53 |
| 594 | Heart, malformation of | Enrichment | MAPK1 | 0.53 |
| 595 | Patent foramen ovale | Enrichment | PSMC3 | 0.53 |
| 596 | Early infantile developmental and epileptic encephalopathy | Enrichment | GRIN1 | 0.53 |
| 597 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MAPT, PSEN1 | 0.51 |
| 598 | Diffuse large b-cell lymphoma | Enrichment | BRAF | 0.51 |
| 599 | Esophageal atresia/tracheoesophageal fistula | Enrichment | APC2 | 0.51 |
| 600 | Congenital myopathy | Enrichment | CACNA1S | 0.51 |
| 601 | Macs syndrome | Enrichment | WNT7B | 0.49 |
| 602 | Maturity-onset diabetes of the young | Enrichment | INS | 0.49 |
| 603 | Craniosynostosis | Enrichment | GRIN2B | 0.49 |
| 604 | Cardiomyopathy, dilated, 1a | Enrichment | LPL | 0.47 |
| 605 | Endometrial cancer | Enrichment | PIK3CA | 0.47 |
| 606 | Centronuclear myopathy | Enrichment | CACNA1S | 0.47 |
| 607 | Attention deficit-hyperactivity disorder | Enrichment | KIF5B | 0.46 |
| 608 | Myocardial infarction | Enrichment | PSMA6 | 0.46 |
| 609 | Microphthalmia | Enrichment | WNT7B | 0.46 |
| 610 | Skin disease | Enrichment | NCSTN | 0.46 |
| 611 | Congenital stationary night blindness | Enrichment | CACNA1F | 0.44 |
| 612 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.43 |
| 613 | Autoinflammatory disease | Enrichment | TNFRSF1A | 0.43 |
| 614 | Scoliosis | Enrichment | GRIN2B | 0.43 |
| 615 | Cone-rod dystrophy 2 | Enrichment | ATF6, CACNA1F | 0.42 |
| 616 | Pancreatic cancer | Enrichment | KRAS | 0.41 |
| 617 | Complex neurodevelopmental disorder | Enrichment | CSNK2A1, GRIN2B, PSMD12 | 0.37 |
| 618 | Hirschsprung disease 1 | Enrichment | AXIN2 | 0.36 |
| 619 | Prostate cancer | Enrichment | PIK3CA | 0.36 |
| 620 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.32 |
| 621 | Severe combined immunodeficiency | Enrichment | IKBKB | 0.32 |
| 622 | Left ventricular noncompaction | Enrichment | RAF1 | 0.31 |
| 623 | Eye disease | Enrichment | CACNA1F | 0.31 |
| 624 | Fetal akinesia deformation sequence 1 | Enrichment | TUBA1A | 0.29 |
| 625 | Systemic lupus erythematosus | Enrichment | TNF | 0.27 |
| 626 | Distal arthrogryposis | Enrichment | FZD3 | 0.25 |
| 627 | Hereditary spastic paraplegia | Enrichment | KIF5A | 0.25 |
| 628 | Hypertelorism | Enrichment | PIK3CA | 0.20 |
| 629 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS | 0.18 |
| 630 | Autosomal recessive non-syndromic intellectual disability | Enrichment | GRIN1 | 0.17 |
| 631 | Primary ovarian insufficiency | Enrichment | RYR3 | 0.16 |
| 632 | Inherited cancer-predisposing syndrome | Enrichment | APC, AXIN2 | 0.14 |
| 633 | Mitochondrial disease | Enrichment | SLC25A4 | 0.09 |
| 634 | Leber plus disease | Enrichment | TUBB4B | 0.07 |
| 635 | Hereditary retinal dystrophy | Enrichment | ATF6, CACNA1F, LRP5 | 0.04 |
| 636 | Fundus dystrophy | Enrichment | ATF6, CACNA1F, LRP5 | 0.04 |
| 637 | Retinitis pigmentosa | Enrichment | CACNA1F | 0.01 |