| 1 | Colorectal cancer | Enrichment | AKT1, BRCA1, EP300, FANCC, PIK3CA, PIK3R1, SRC | 6.84 |
| 2 | Long qt syndrome 1 | Enrichment | CALM1, CALM2, CALM3, ITPR3, PTPN11 | 6.62 |
| 3 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | AKT3, PIK3CA, PIK3R2 | 6.42 |
| 4 | Catecholaminergic polymorphic ventricular tachycardia | Enrichment | CALM1, CALM2, CALM3 | 5.28 |
| 5 | Lung non-small cell carcinoma | Enrichment | IRF1, MAP2K1, PIK3CA | 4.81 |
| 6 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, MAP2K1, PTPN11 | 4.38 |
| 7 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA, PIK3R1 | 4.20 |
| 8 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 4.20 |
| 9 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, JAK2 | 4.20 |
| 10 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 4.20 |
| 11 | Ovarian cancer | Enrichment | AKT1, BRCA1, FANCC, MAP3K1, PIK3CA | 3.99 |
| 12 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL, MAPK1 | 3.90 |
| 13 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | AKT3, PIK3R2 | 3.90 |
| 14 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 3.90 |
| 15 | Noonan syndrome 1 | Enrichment | CBL, MAP2K1, PTPN11 | 3.80 |
| 16 | Myeloproliferative neoplasm | Enrichment | CBL, JAK2 | 3.68 |
| 17 | Hemimegalencephaly | Enrichment | AKT3, PIK3CA | 3.68 |
| 18 | Rasopathy | Enrichment | CBL, MAP2K1, PTPN11 | 3.64 |
| 19 | Rubinstein-taybi syndrome 1 | Enrichment | CREBBP, EP300 | 3.50 |
| 20 | Chromosome 16p13.3 deletion syndrome, proximal | Enrichment | CREBBP, EP300 | 3.50 |
| 21 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.50 |
| 22 | Bladder cancer | Enrichment | BRCA1, CDKN1A, PIK3CA | 3.49 |
| 23 | Breast cancer | Enrichment | AKT1, BRCA1, FANCC, PIK3CA | 3.40 |
| 24 | Lung cancer | Enrichment | BRCA1, IRF1, PIK3CA | 3.37 |
| 25 | Myelofibrosis | Enrichment | JAK2, SRC | 3.36 |
| 26 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.36 |
| 27 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.13 |
| 28 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.13 |
| 29 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.03 |
| 30 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 3.03 |
| 31 | Gastric cancer | Enrichment | BRCA1, IRF1, PIK3CA | 2.99 |
| 32 | Hereditary breast carcinoma | Enrichment | AKT1, BRCA1, PIK3CA | 2.96 |
| 33 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 2.94 |
| 34 | Juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 2.87 |
| 35 | Meningioma | Enrichment | AKT1, PIK3CA | 2.87 |
| 36 | Congenital long qt syndrome | Enrichment | ITPR3, PTPN11 | 2.87 |
| 37 | Rare genetic intellectual disability | Enrichment | CREBBP, EP300 | 2.67 |
| 38 | Rhabdomyosarcoma | Enrichment | BRCA1, CBL | 2.61 |
| 39 | Microcephaly | Enrichment | CAMK2B, EP300, MAPK1, PTPN11 | 2.60 |
| 40 | Diffuse large b-cell lymphoma | Enrichment | CREBBP, SOCS1 | 2.46 |
| 41 | Endometrial cancer | Enrichment | BRCA1, PIK3CA | 2.38 |
| 42 | Anhidrosis, isolated, with normal sweat glands | Enrichment | ITPR2 | 2.33 |
| 43 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.33 |
| 44 | Macrodactyly | Enrichment | PIK3CA | 2.33 |
| 45 | Proteus syndrome | Enrichment | AKT1 | 2.33 |
| 46 | Metachondromatosis | Enrichment | PTPN11 | 2.33 |
| 47 | Hypoinsulinemic hypoglycemia with hemihypertrophy | Enrichment | AKT2 | 2.33 |
| 48 | Helicobacter pylori infection | Enrichment | IFNGR1 | 2.33 |
| 49 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.33 |
| 50 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.33 |
| 51 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.33 |
| 52 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.33 |
| 53 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.33 |
| 54 | 46,xy sex reversal 6 | Enrichment | MAP3K1 | 2.33 |
| 55 | Autoimmune lymphoproliferative syndrome, type iii | Enrichment | PRKCD | 2.33 |
| 56 | Immunodeficiency 27a | Enrichment | IFNGR1 | 2.33 |
| 57 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.33 |
| 58 | Immunodeficiency 69 | Enrichment | IFNG | 2.33 |
| 59 | Pseudo-torch syndrome 3 | Enrichment | STAT2 | 2.33 |
| 60 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.33 |
| 61 | Charcot-marie-tooth disease, demyelinating, type 1j | Enrichment | ITPR3 | 2.33 |
| 62 | Intellectual developmental disorder, autosomal recessive 63 | Enrichment | CAMK2A | 2.33 |
| 63 | Intellectual developmental disorder, autosomal dominant 54 | Enrichment | CAMK2B | 2.33 |
| 64 | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | Enrichment | EIF2AK2 | 2.33 |
| 65 | Short syndrome | Enrichment | PIK3R1 | 2.33 |
| 66 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.33 |
| 67 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | Enrichment | AKT3 | 2.33 |
| 68 | Immunodeficiency 27b | Enrichment | IFNGR1 | 2.33 |
| 69 | Meier-gorlin syndrome 8 | Enrichment | MCM5 | 2.33 |
| 70 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.33 |
| 71 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.33 |
| 72 | Melorheostosis | Enrichment | MAP2K1 | 2.33 |
| 73 | Immunodeficiency 31a | Enrichment | STAT1 | 2.33 |
| 74 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.33 |
| 75 | Autoinflammation, antibody deficiency, and immune dysregulation | Enrichment | PLCG2 | 2.33 |
| 76 | Long qt syndrome 16 | Enrichment | CALM3 | 2.33 |
| 77 | Cowden syndrome 6 | Enrichment | AKT1 | 2.33 |
| 78 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.33 |
| 79 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.33 |
| 80 | Colorectal cancer 3 | Enrichment | SMAD7 | 2.33 |
| 81 | Immunodeficiency 31b | Enrichment | STAT1 | 2.33 |
| 82 | Familial cold autoinflammatory syndrome 3 | Enrichment | PLCG2 | 2.33 |
| 83 | Thrombocytopenia 6 | Enrichment | SRC | 2.33 |
| 84 | Dystonia 33 | Enrichment | EIF2AK2 | 2.33 |
| 85 | Menke-hennekam syndrome 1 | Enrichment | CREBBP | 2.33 |
| 86 | Immunodeficiency 65 viral infections | Enrichment | IRF9 | 2.33 |
| 87 | Intellectual developmental disorder, autosomal dominant 53 | Enrichment | CAMK2A | 2.33 |
| 88 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.33 |
| 89 | Intellectual developmental disorder, autosomal dominant 59 | Enrichment | CAMK2G | 2.33 |
| 90 | Long qt syndrome 15 | Enrichment | CALM2 | 2.33 |
| 91 | Rubinstein-taybi syndrome due to 16p13.3 microdeletion | Enrichment | CREBBP | 2.33 |
| 92 | Hypospadias | Enrichment | PIK3CA | 2.33 |
| 93 | Capillary hemangioma | Enrichment | AKT3 | 2.33 |
| 94 | Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | Enrichment | ITPR3 | 2.33 |
| 95 | Rare venous malformation | Enrichment | PIK3CA | 2.33 |
| 96 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.33 |
| 97 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.33 |
| 98 | Menke-hennekam syndrome | Enrichment | CREBBP | 2.33 |
| 99 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.33 |
| 100 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.33 |
| 101 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.33 |
| 102 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency | Enrichment | IFNGR2 | 2.33 |
| 103 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.33 |
| 104 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.33 |
| 105 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.33 |
| 106 | Macrodactyly of toe | Enrichment | PIK3CA | 2.33 |
| 107 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.33 |
| 108 | Akt2-related familial partial lipodystrophy | Enrichment | AKT2 | 2.33 |
| 109 | Malignant astrocytoma | Enrichment | PTPN11 | 2.33 |
| 110 | Scoliosis | Enrichment | CREBBP, PTPN11 | 2.26 |
| 111 | Prostate cancer | Enrichment | BRCA1, PIK3CA | 2.10 |
| 112 | Long qt syndrome | Enrichment | CALM1, CALM2 | 2.04 |
| 113 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 2.03 |
| 114 | Burkitt lymphoma | Enrichment | MYC | 2.03 |
| 115 | Thumb deformity | Enrichment | CREBBP | 2.03 |
| 116 | Ovarian germ cell cancer | Enrichment | CBL | 2.03 |
| 117 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | Enrichment | CALM1 | 2.03 |
| 118 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.03 |
| 119 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 2.03 |
| 120 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.03 |
| 121 | Thrombocythemia 3 | Enrichment | JAK2 | 2.03 |
| 122 | Long qt syndrome 14 | Enrichment | CALM1 | 2.03 |
| 123 | Immunodeficiency 31c | Enrichment | STAT1 | 2.03 |
| 124 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.03 |
| 125 | Werner syndrome | Enrichment | PTPN11 | 2.03 |
| 126 | Menke-hennekam syndrome 2 | Enrichment | EP300 | 2.03 |
| 127 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.03 |
| 128 | Acute myeloid leukemia with kat6a-crebbp fusion | Enrichment | CREBBP | 2.03 |
| 129 | Senior-loken syndrome 7 | Enrichment | AKT3 | 2.03 |
| 130 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.03 |
| 131 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.03 |
| 132 | Immune system disease | Enrichment | PIK3CD | 2.03 |
| 133 | Bardet-biedl syndrome 16 | Enrichment | AKT3 | 2.03 |
| 134 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.03 |
| 135 | Polycythemia | Enrichment | JAK2 | 2.03 |
| 136 | Peritoneum cancer | Enrichment | BRCA1 | 2.03 |
| 137 | Bilateral breast cancer | Enrichment | BRCA1 | 2.03 |
| 138 | Hypereosinophilic syndrome | Enrichment | JAK2 | 2.03 |
| 139 | Immunodeficiency 117 | Enrichment | IRF1 | 2.03 |
| 140 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.03 |
| 141 | Fanconi anemia, complementation group a | Enrichment | BRCA1, FANCC | 1.94 |
| 142 | Immune thrombocytopenia | Enrichment | SOCS1 | 1.86 |
| 143 | Gillespie syndrome | Enrichment | ITPR1 | 1.86 |
| 144 | Polycythemia vera | Enrichment | JAK2 | 1.86 |
| 145 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.86 |
| 146 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.86 |
| 147 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.86 |
| 148 | Hepatitis c virus | Enrichment | IFNG | 1.86 |
| 149 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.86 |
| 150 | Immunodeficiency 28 | Enrichment | IFNGR2 | 1.86 |
| 151 | Autoinflammatory syndrome, familial, with or without immunodeficiency | Enrichment | SOCS1 | 1.86 |
| 152 | Tethered spinal cord syndrome | Enrichment | CREBBP | 1.86 |
| 153 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.86 |
| 154 | Torsion dystonia 1 | Enrichment | EIF2AK2 | 1.86 |
| 155 | Intraocular pressure quantitative trait locus | Enrichment | CREBBP | 1.86 |
| 156 | Immunodeficiency 44 | Enrichment | STAT2 | 1.86 |
| 157 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.86 |
| 158 | Keratoacanthoma | Enrichment | PIK3CA | 1.86 |
| 159 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.73 |
| 160 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.73 |
| 161 | Anemia, autoimmune hemolytic | Enrichment | SOCS1 | 1.73 |
| 162 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.73 |
| 163 | Budd-chiari syndrome | Enrichment | JAK2 | 1.73 |
| 164 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.73 |
| 165 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.73 |
| 166 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.73 |
| 167 | Hepatitis b | Enrichment | IFNGR1 | 1.73 |
| 168 | Cerebrovascular disease | Enrichment | PIK3CA | 1.73 |
| 169 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.73 |
| 170 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.73 |
| 171 | Cerebral malaria | Enrichment | ICAM1 | 1.73 |
| 172 | Thrombocytopenia | Enrichment | PTPN11, SRC | 1.68 |
| 173 | Autosomal dominant non-syndromic intellectual disability | Enrichment | CAMK2A, CAMK2B | 1.65 |
| 174 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.64 |
| 175 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.64 |
| 176 | Rubinstein-taybi syndrome 2 | Enrichment | EP300 | 1.64 |
| 177 | Lymphoma | Enrichment | PTPN11 | 1.64 |
| 178 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.64 |
| 179 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.64 |
| 180 | Inherited cancer-predisposing syndrome | Enrichment | BRCA1, FANCC, PTPN11 | 1.63 |
| 181 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.56 |
| 182 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.56 |
| 183 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.56 |
| 184 | Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy | Enrichment | CALM1 | 1.56 |
| 185 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.56 |
| 186 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.56 |
| 187 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.56 |
| 188 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.56 |
| 189 | Hypertrichosis | Enrichment | CREBBP | 1.56 |
| 190 | Myeloma, multiple | Enrichment | CREBBP, PIK3R2 | 1.56 |
| 191 | Nevus, epidermal | Enrichment | PIK3CA | 1.49 |
| 192 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.49 |
| 193 | Noonan syndrome 3 | Enrichment | PTPN11 | 1.49 |
| 194 | Essential thrombocythemia | Enrichment | JAK2 | 1.49 |
| 195 | Gallbladder cancer | Enrichment | PIK3CA | 1.49 |
| 196 | Megacolon | Enrichment | AKT3 | 1.49 |
| 197 | Overgrowth syndrome | Enrichment | PIK3R1 | 1.49 |
| 198 | Fanconi anemia, complementation group c | Enrichment | FANCC | 1.44 |
| 199 | Catecholaminergic polymorphic ventricular tachycardia 1 | Enrichment | CALM1 | 1.44 |
| 200 | Charge syndrome | Enrichment | EP300 | 1.39 |
| 201 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.39 |
| 202 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.39 |
| 203 | Autism | Enrichment | CAMK2G, CREBBP | 1.36 |
| 204 | Aplastic anemia | Enrichment | IFNG | 1.34 |
| 205 | Polymicrogyria | Enrichment | AKT3 | 1.34 |
| 206 | Pectus excavatum | Enrichment | PTPN11 | 1.30 |
| 207 | 46,xy complete gonadal dysgenesis | Enrichment | MAP3K1 | 1.30 |
| 208 | Uterine corpus cancer | Enrichment | BRCA1 | 1.30 |
| 209 | Epicanthus | Enrichment | PTPN11 | 1.26 |
| 210 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.26 |
| 211 | Breast-ovarian cancer, familial 1 | Enrichment | BRCA1 | 1.23 |
| 212 | Nk-cell enteropathy | Enrichment | PIK3CB | 1.23 |
| 213 | Multiple sclerosis | Enrichment | ITPR1 | 1.20 |
| 214 | Osteoporosis | Enrichment | SRC | 1.20 |
| 215 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.20 |
| 216 | Heart disease | Enrichment | CREBBP | 1.20 |
| 217 | 46,xy partial gonadal dysgenesis | Enrichment | MAP3K1 | 1.20 |
| 218 | Polydactyly, postaxial, type a1 | Enrichment | EP300 | 1.17 |
| 219 | Corpus callosum, agenesis of | Enrichment | CREBBP | 1.17 |
| 220 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.17 |
| 221 | Lynch syndrome | Enrichment | PIK3CA | 1.17 |
| 222 | Isolated corpus callosum agenesis | Enrichment | CREBBP | 1.17 |
| 223 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CREBBP | 1.17 |
| 224 | Sudden infant death syndrome | Enrichment | CALM2 | 1.12 |
| 225 | Heart, malformation of | Enrichment | MAPK1 | 1.09 |
| 226 | Human immunodeficiency virus type 1 | Enrichment | IFNG | 1.09 |
| 227 | Patent foramen ovale | Enrichment | PTPN11 | 1.09 |
| 228 | Behcet syndrome | Enrichment | IFNGR1 | 1.07 |
| 229 | Congenital nervous system abnormality | Enrichment | CAMK2B, CREBBP | 1.06 |
| 230 | Nervous system disease | Enrichment | CAMK2B, CREBBP | 1.06 |
| 231 | Autism spectrum disorder | Enrichment | MAP2K1, PTPN11 | 1.04 |
| 232 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.01 |
| 233 | Malaria | Enrichment | ICAM1 | 0.99 |
| 234 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 0.99 |
| 235 | Pancreatic cancer | Enrichment | BRCA1 | 0.96 |
| 236 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 0.94 |
| 237 | Strabismus | Enrichment | PTPN11 | 0.93 |
| 238 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.87 |
| 239 | Dystonia | Enrichment | CAMK2B | 0.82 |
| 240 | Systemic lupus erythematosus | Enrichment | SOCS1 | 0.78 |
| 241 | Leukemia, acute myeloid | Enrichment | JAK2 | 0.77 |
| 242 | Type 2 diabetes mellitus | Enrichment | AKT2 | 0.75 |
| 243 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.74 |
| 244 | Hypertelorism | Enrichment | PIK3CA | 0.67 |
| 245 | Spastic ataxia | Enrichment | ITPR1 | 0.66 |
| 246 | Hereditary breast ovarian cancer syndrome | Enrichment | BRCA1 | 0.65 |
| 247 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.64 |
| 248 | Primary ovarian insufficiency | Enrichment | JAK2 | 0.62 |