| 1 | Severe combined immunodeficiency | Enrichment | CD247, CD3D, CD3E, CD3G, IKBKB, LCK, MALT1, PTPRC, ZAP70 | 10.58 |
| 2 | Noonan syndrome 1 | Enrichment | CBL, MAP2K1, MAP2K2, RAF1, RRAS, SOS1 | 9.12 |
| 3 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.75 |
| 4 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.75 |
| 5 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, MAP2K1, MAP2K2, RAF1, SOS1 | 8.27 |
| 6 | Bladder cancer | Enrichment | CDKN1A, CDKN2A, HRAS, PTEN, TP53, TSC1 | 7.55 |
| 7 | Rasopathy | Enrichment | CBL, MAP2K1, MAP2K2, RAF1, SOS1 | 6.95 |
| 8 | Tuberous sclerosis 1 | Enrichment | IFNG, TSC1, TSC2 | 6.56 |
| 9 | T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta | Enrichment | CD247, CD3D, CD3E | 6.56 |
| 10 | Hemimegalencephaly | Enrichment | MTOR, PTEN, RHEB | 5.57 |
| 11 | Noonan syndrome 3 | Enrichment | HRAS, RAF1, SOS1 | 5.03 |
| 12 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG, NFKBIA | 4.67 |
| 13 | Colorectal cancer | Enrichment | AKT1, BAX, BCL10, CCND1, PIK3R1, TP53 | 4.65 |
| 14 | Adult hepatocellular carcinoma | Enrichment | TP53, TSC1, TSC2 | 4.65 |
| 15 | Systemic lupus erythematosus | Enrichment | CTLA4, IL10, PDCD1, TNF | 4.51 |
| 16 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.37 |
| 17 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, HRAS, TP53 | 4.24 |
| 18 | Mycosis fungoides | Enrichment | CD28, CTLA4 | 4.20 |
| 19 | Saczary syndrome | Enrichment | CD28, CTLA4 | 4.20 |
| 20 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 3.90 |
| 21 | Immunodeficiency, common variable, 1 | Enrichment | CTLA4, ICOS | 3.90 |
| 22 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 3.90 |
| 23 | Psoriatic arthritis | Enrichment | LTA, TNF | 3.90 |
| 24 | Nasopharyngeal carcinoma | Enrichment | NFKBIA, TP53 | 3.90 |
| 25 | Tuberous sclerosis 2 | Enrichment | IFNG, TSC2 | 3.90 |
| 26 | Immunodeficiency 14a with lymphoproliferation, autosomal dominant | Enrichment | PIK3CD, PIK3R1 | 3.90 |
| 27 | Hamartoma | Enrichment | TSC1, TSC2 | 3.90 |
| 28 | Immunodeficiency 14 | Enrichment | PIK3CD, PIK3R1 | 3.90 |
| 29 | T-cell acute lymphoblastic leukemia | Enrichment | BAX, BCL10 | 3.90 |
| 30 | Breast cancer | Enrichment | AKT1, IL2, JUN, PTEN, TP53 | 3.88 |
| 31 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN, TP53 | 3.84 |
| 32 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BCL10, MALT1 | 3.68 |
| 33 | Behcet syndrome | Enrichment | IL12A, IL23R, STAT4 | 3.61 |
| 34 | Diffuse large b-cell lymphoma | Enrichment | MYD88, PTEN, TP53 | 3.61 |
| 35 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.60 |
| 36 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.50 |
| 37 | Follicular lymphoma | Enrichment | BCL10, HLA-DRB1 | 3.38 |
| 38 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.38 |
| 39 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA | 3.36 |
| 40 | Common variable immunodeficiency | Enrichment | CD40LG, NFKB1 | 3.36 |
| 41 | Ovarian cancer | Enrichment | AKT1, CDKN2A, PTEN, TP53, TSC2 | 3.28 |
| 42 | Li-fraumeni syndrome | Enrichment | CDKN2A, TP53 | 3.20 |
| 43 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 3.20 |
| 44 | Arteriovenous malformation | Enrichment | MAP2K1, PIK3CA | 3.13 |
| 45 | Cowden syndrome | Enrichment | AKT1, PIK3CA | 3.13 |
| 46 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, PTEN | 3.06 |
| 47 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 3.06 |
| 48 | Essential thrombocythemia | Enrichment | JAK2, TP53 | 3.06 |
| 49 | Follicular thyroid carcinoma | Enrichment | HRAS, PTEN | 3.06 |
| 50 | Oligoarticular juvenile idiopathic arthritis | Enrichment | CD247, STAT4 | 3.06 |
| 51 | Overgrowth syndrome | Enrichment | MTOR, PIK3R1 | 3.06 |
| 52 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | CD247, STAT4 | 3.06 |
| 53 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 3.06 |
| 54 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1, PIK3CA | 3.03 |
| 55 | Asthma | Enrichment | CARD11, TNF | 2.94 |
| 56 | Combined immunodeficiency | Enrichment | MALT1, ZAP70 | 2.94 |
| 57 | Lung non-small cell carcinoma | Enrichment | MAP2K1, PIK3CA | 2.94 |
| 58 | Combined t cell and b cell immunodeficiency | Enrichment | MALT1, ZAP70 | 2.94 |
| 59 | Combined t and b cell immunodeficiency | Enrichment | MALT1, ZAP70 | 2.94 |
| 60 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 2.93 |
| 61 | Lymphoma, non-hodgkin, familial | Enrichment | BCL10, TP53 | 2.93 |
| 62 | Juvenile myelomonocytic leukemia | Enrichment | CBL, RRAS | 2.87 |
| 63 | Meningioma | Enrichment | AKT1, PIK3CA | 2.87 |
| 64 | Primary biliary cholangitis | Enrichment | IL12A, IL12RB1 | 2.83 |
| 65 | Inherited cancer-predisposing syndrome | Enrichment | CDKN2A, PTEN, TP53, TSC1, TSC2 | 2.76 |
| 66 | Leukemia, chronic lymphocytic | Enrichment | CCND1, TP53 | 2.73 |
| 67 | Melanoma | Enrichment | CDKN2A, PTEN | 2.73 |
| 68 | Autosomal non-syndromic agammaglobulinemia | Enrichment | PIK3CD, PIK3R1 | 2.73 |
| 69 | Gastric cancer | Enrichment | CDKN2A, PTEN, TP53 | 2.55 |
| 70 | Hereditary breast carcinoma | Enrichment | AKT1, PTEN, TP53 | 2.53 |
| 71 | Human immunodeficiency virus type 1 | Enrichment | IFNG, IL10 | 2.51 |
| 72 | Multiple sclerosis | Enrichment | HLA-DRB1, ITPR1 | 2.43 |
| 73 | Macrodactyly | Enrichment | PIK3CA | 2.33 |
| 74 | Proteus syndrome | Enrichment | AKT1 | 2.33 |
| 75 | Cardiospondylocarpofacial syndrome | Enrichment | MAP3K7 | 2.33 |
| 76 | Incontinentia pigmenti | Enrichment | IKBKG | 2.33 |
| 77 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.33 |
| 78 | Noonan syndrome 5 | Enrichment | RAF1 | 2.33 |
| 79 | Noonan syndrome 4 | Enrichment | SOS1 | 2.33 |
| 80 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.33 |
| 81 | Celiac disease 3 | Enrichment | CTLA4 | 2.33 |
| 82 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.33 |
| 83 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.33 |
| 84 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.33 |
| 85 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.33 |
| 86 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.33 |
| 87 | Muscular dystrophy-dystroglycanopathy , type a, 9 | Enrichment | DAG1 | 2.33 |
| 88 | Fetal encasement syndrome | Enrichment | CHUK | 2.33 |
| 89 | Immunodeficiency 116 | Enrichment | CD8A | 2.33 |
| 90 | Frontometaphyseal dysplasia 2 | Enrichment | MAP3K7 | 2.33 |
| 91 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.33 |
| 92 | Immunodeficiency 15b | Enrichment | IKBKB | 2.33 |
| 93 | Immunodeficiency 69 | Enrichment | IFNG | 2.33 |
| 94 | Immunodeficiency 81 | Enrichment | LCP2 | 2.33 |
| 95 | Immunodeficiency 15a | Enrichment | IKBKB | 2.33 |
| 96 | Immunodeficiency with hyper-igm, type 1 | Enrichment | CD40LG | 2.33 |
| 97 | Immunodeficiency 48 | Enrichment | ZAP70 | 2.33 |
| 98 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.33 |
| 99 | Autoimmune disease, multisystem, infantile-onset, 4 | Enrichment | PDCD1 | 2.33 |
| 100 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.33 |
| 101 | Okt4 epitope deficiency | Enrichment | CD4 | 2.33 |
| 102 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.33 |
| 103 | Graft-versus-host disease | Enrichment | IL10 | 2.33 |
| 104 | Type 1 diabetes mellitus 12 | Enrichment | CTLA4 | 2.33 |
| 105 | Persistent polyclonal b-cell lymphocytosis | Enrichment | CARD11 | 2.33 |
| 106 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.33 |
| 107 | Systemic lupus erythematosus 2 | Enrichment | PDCD1 | 2.33 |
| 108 | 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 |
| 109 | Lymphoproliferative syndrome 1 | Enrichment | ITK | 2.33 |
| 110 | Melorheostosis | Enrichment | MAP2K1 | 2.33 |
| 111 | Leopard syndrome 2 | Enrichment | RAF1 | 2.33 |
| 112 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.33 |
| 113 | Cowden syndrome 6 | Enrichment | AKT1 | 2.33 |
| 114 | Immunodeficiency 12 | Enrichment | MALT1 | 2.33 |
| 115 | Muscular dystrophy-dystroglycanopathy , type c, 9 | Enrichment | DAG1 | 2.33 |
| 116 | Immunodeficiency 123 with hpv-related verrucosis | Enrichment | CD28 | 2.33 |
| 117 | Immunodeficiency 105, severe combined | Enrichment | PTPRC | 2.33 |
| 118 | Autoimmune disease, multisystem, infantile-onset, 2 | Enrichment | ZAP70 | 2.33 |
| 119 | Immunodeficiency 22 | Enrichment | LCK | 2.33 |
| 120 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.33 |
| 121 | Spastic ataxia 9, autosomal recessive | Enrichment | CHP1 | 2.33 |
| 122 | Immunodeficiency 79 | Enrichment | CD4 | 2.33 |
| 123 | Cd45 deficiency | Enrichment | PTPRC | 2.33 |
| 124 | Trigonitis | Enrichment | RAF1 | 2.33 |
| 125 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.33 |
| 126 | Sezary's disease | Enrichment | BCL10 | 2.33 |
| 127 | Immunodeficiency 19, severe combined | Enrichment | CD3D | 2.33 |
| 128 | Hypospadias | Enrichment | PIK3CA | 2.33 |
| 129 | Immunodeficiency 112 | Enrichment | MAP3K14 | 2.33 |
| 130 | Rare venous malformation | Enrichment | PIK3CA | 2.33 |
| 131 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 132 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 133 | Cd40 ligand deficiency | Enrichment | CD40LG | 2.33 |
| 134 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.33 |
| 135 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 136 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.33 |
| 137 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.33 |
| 138 | Immunodeficiency 19 | Enrichment | CD3D | 2.33 |
| 139 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.33 |
| 140 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.33 |
| 141 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.33 |
| 142 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | Enrichment | DAG1 | 2.33 |
| 143 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.33 |
| 144 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.33 |
| 145 | Mucosa-associated lymphoma | Enrichment | BCL10 | 2.33 |
| 146 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.33 |
| 147 | Macrodactyly of toe | Enrichment | PIK3CA | 2.33 |
| 148 | Nik deficiency | Enrichment | MAP3K14 | 2.33 |
| 149 | Zap70-related severe combined immunodeficiency | Enrichment | ZAP70 | 2.33 |
| 150 | Gliosarcoma | Enrichment | NFKBIA, TP53 | 2.32 |
| 151 | Malaria | Enrichment | IKBKG, TNF | 2.30 |
| 152 | Giant cell glioblastoma | Enrichment | NFKBIA, TP53 | 2.27 |
| 153 | Autism spectrum disorder | Enrichment | IRF2BPL, MAP2K1, PTEN, TSC2 | 2.24 |
| 154 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.18 |
| 155 | Immunodeficiency 35 | Enrichment | TYK2 | 2.18 |
| 156 | Immunodeficiency 68 | Enrichment | MYD88 | 2.18 |
| 157 | Leprosy 4 | Enrichment | LTA | 2.18 |
| 158 | Macroglobulinemia, waldenstrom 1 | Enrichment | MYD88 | 2.18 |
| 159 | Immunodeficiency 30 | Enrichment | IL12RB1 | 2.18 |
| 160 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.18 |
| 161 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.18 |
| 162 | Immunodeficiency 106 viral infections | Enrichment | IFNAR1 | 2.18 |
| 163 | Disabling pansclerotic morphea of childhood | Enrichment | STAT4 | 2.18 |
| 164 | Short syndrome | Enrichment | PIK3R1 | 2.18 |
| 165 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.18 |
| 166 | Papilloma of choroid plexus | Enrichment | TP53 | 2.18 |
| 167 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.18 |
| 168 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.18 |
| 169 | Immunodeficiency 18 | Enrichment | CD3E | 2.18 |
| 170 | Systemic lupus erythematosus 11 | Enrichment | STAT4 | 2.18 |
| 171 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.18 |
| 172 | Pulmonary alveolar proteinosis, acquired | Enrichment | HLA-DRB1 | 2.18 |
| 173 | Immunodeficiency 25 | Enrichment | CD247 | 2.18 |
| 174 | Psoriasis 7 | Enrichment | IL23R | 2.18 |
| 175 | Immunodeficiency 36 with lymphoproliferation | Enrichment | PIK3R1 | 2.18 |
| 176 | Immunodeficiency 29 | Enrichment | IL12B | 2.18 |
| 177 | Graham little-piccardi-lassueur syndrome | Enrichment | HLA-DRA | 2.18 |
| 178 | Immunodeficiency 14b, autosomal recessive | Enrichment | PIK3CD | 2.18 |
| 179 | Agammaglobulinemia 7, autosomal recessive | Enrichment | PIK3R1 | 2.18 |
| 180 | Inflammatory bowel disease 17 | Enrichment | IL23R | 2.18 |
| 181 | Glioma susceptibility 2 | Enrichment | PTEN | 2.18 |
| 182 | Ductal carcinoma in situ | Enrichment | TP53 | 2.18 |
| 183 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.18 |
| 184 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.18 |
| 185 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.18 |
| 186 | Irf2bpl-related disorder | Enrichment | IRF2BPL | 2.18 |
| 187 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.18 |
| 188 | Choroid plexus cancer | Enrichment | TP53 | 2.18 |
| 189 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.18 |
| 190 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.18 |
| 191 | Waldenstram macroglobulinemia | Enrichment | MYD88 | 2.18 |
| 192 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.18 |
| 193 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.18 |
| 194 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.18 |
| 195 | Multisystem inflammatory syndrome in children | Enrichment | IFNAR2, IFNB1 | 2.04 |
| 196 | Hashimoto thyroiditis | Enrichment | CTLA4 | 2.03 |
| 197 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.03 |
| 198 | Ovarian germ cell cancer | Enrichment | CBL | 2.03 |
| 199 | Immunodeficiency 33 | Enrichment | IKBKG | 2.03 |
| 200 | Pulmonic stenosis | Enrichment | SOS1 | 2.03 |
| 201 | Ectodermal dysplasia and immunodeficiency 2 | Enrichment | NFKBIA | 2.03 |
| 202 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.03 |
| 203 | Immunodeficiency 11a | Enrichment | CARD11 | 2.03 |
| 204 | Immunodeficiency 37 | Enrichment | BCL10 | 2.03 |
| 205 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.03 |
| 206 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.03 |
| 207 | Immunodeficiency 11b with atopic dermatitis | Enrichment | CARD11 | 2.03 |
| 208 | Immunodeficiency 127 | Enrichment | TNF | 2.03 |
| 209 | Lymphoproliferative syndrome | Enrichment | ITK | 2.03 |
| 210 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.03 |
| 211 | B-cell expansion with nfkb and t-cell anergy | Enrichment | CARD11 | 2.03 |
| 212 | Immunodeficiency 104, severe combined | Enrichment | PTPRC | 2.03 |
| 213 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.03 |
| 214 | Immunodeficiency 52 | Enrichment | LAT | 2.03 |
| 215 | Joint contractures, osteochondromas, and b-cell lymphoma | Enrichment | NFATC2 | 2.03 |
| 216 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.03 |
| 217 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.03 |
| 218 | Tafro syndrome | Enrichment | MAP2K2 | 2.03 |
| 219 | Lung cancer | Enrichment | MAP3K8, PIK3CA | 2.02 |
| 220 | Pancreatic cancer | Enrichment | CDKN2A, TP53 | 1.94 |
| 221 | Spinocerebellar ataxia 29 | Enrichment | ITPR1 | 1.88 |
| 222 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.88 |
| 223 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.88 |
| 224 | Costello syndrome | Enrichment | HRAS | 1.88 |
| 225 | Cervical cancer | Enrichment | TP53 | 1.88 |
| 226 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.88 |
| 227 | Roifman-chitayat syndrome | Enrichment | PIK3CD | 1.88 |
| 228 | Immunodeficiency 45 | Enrichment | IFNAR2 | 1.88 |
| 229 | Sarcoidosis 1 | Enrichment | HLA-DRB1 | 1.88 |
| 230 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.88 |
| 231 | Thrombocythemia 3 | Enrichment | JAK2 | 1.88 |
| 232 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | Enrichment | IRF2BPL | 1.88 |
| 233 | Autoinflammatory disease, familial, behcet-like 3 | Enrichment | RELA | 1.88 |
| 234 | Cebalid syndrome | Enrichment | MTOR | 1.88 |
| 235 | Rela fusion-positive ependymoma | Enrichment | RELA | 1.88 |
| 236 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.88 |
| 237 | Congenital fibrosarcoma | Enrichment | TP53 | 1.88 |
| 238 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.88 |
| 239 | Sarcoma | Enrichment | TP53 | 1.88 |
| 240 | Immunodeficiency 17 | Enrichment | CD3G | 1.88 |
| 241 | Bullous pemphigoid | Enrichment | HLA-DRB1 | 1.88 |
| 242 | Cervix carcinoma | Enrichment | TP53 | 1.88 |
| 243 | Immune system disease | Enrichment | PIK3CD | 1.88 |
| 244 | Hodgkin's lymphoma | Enrichment | TP53 | 1.88 |
| 245 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.88 |
| 246 | Polycythemia | Enrichment | JAK2 | 1.88 |
| 247 | Lymphomatoid papulosis | Enrichment | TYK2 | 1.88 |
| 248 | Pediatric multiple sclerosis | Enrichment | HLA-DRB1 | 1.88 |
| 249 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.88 |
| 250 | Hypereosinophilic syndrome | Enrichment | JAK2 | 1.88 |
| 251 | Transient predisposition to invasive pyogenic bacterial infection | Enrichment | MYD88 | 1.88 |
| 252 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.88 |
| 253 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.88 |
| 254 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | TYK2 | 1.88 |
| 255 | Wooly hair nevus | Enrichment | HRAS | 1.88 |
| 256 | Mesothelioma, malignant | Enrichment | BCL10 | 1.86 |
| 257 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.86 |
| 258 | Nuchal bleb, familial | Enrichment | SOS1 | 1.86 |
| 259 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.86 |
| 260 | Hepatitis c virus | Enrichment | IFNG | 1.86 |
| 261 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.86 |
| 262 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 1.86 |
| 263 | Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation | Enrichment | CTLA4 | 1.86 |
| 264 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 1.86 |
| 265 | Asparagine synthetase deficiency | Enrichment | CTLA4 | 1.86 |
| 266 | Frontometaphyseal dysplasia | Enrichment | MAP3K7 | 1.86 |
| 267 | Migraine without aura | Enrichment | TNF | 1.86 |
| 268 | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Enrichment | CTLA4 | 1.86 |
| 269 | Adult-onset myasthenia gravis | Enrichment | CTLA4 | 1.86 |
| 270 | Well-differentiated liposarcoma | Enrichment | CDK4 | 1.86 |
| 271 | Testicular cancer | Enrichment | BCL10 | 1.86 |
| 272 | Keratoacanthoma | Enrichment | PIK3CA | 1.86 |
| 273 | Prostate cancer | Enrichment | PTEN, TP53 | 1.81 |
| 274 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.73 |
| 275 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.73 |
| 276 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.73 |
| 277 | Cerebrovascular disease | Enrichment | PIK3CA | 1.73 |
| 278 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL | 1.73 |
| 279 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.73 |
| 280 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.73 |
| 281 | Cerebral malaria | Enrichment | TNF | 1.73 |
| 282 | Gingival fibromatosis | Enrichment | SOS1 | 1.73 |
| 283 | Gillespie syndrome | Enrichment | ITPR1 | 1.71 |
| 284 | Takayasu arteritis | Enrichment | IL12B | 1.71 |
| 285 | Polycythemia vera | Enrichment | JAK2 | 1.71 |
| 286 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.71 |
| 287 | Osteogenic sarcoma | Enrichment | TP53 | 1.71 |
| 288 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.71 |
| 289 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK2 | 1.71 |
| 290 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.71 |
| 291 | Anaplastic astrocytoma | Enrichment | TP53 | 1.71 |
| 292 | Xanthinuria, type ii | Enrichment | TSC2 | 1.71 |
| 293 | Squamous cell carcinoma | Enrichment | TP53 | 1.71 |
| 294 | Adenocarcinoma | Enrichment | TP53 | 1.71 |
| 295 | Immunodeficiency 44 | Enrichment | IFNAR2 | 1.71 |
| 296 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.71 |
| 297 | Bone osteosarcoma | Enrichment | TP53 | 1.71 |
| 298 | Spermatocytoma | Enrichment | HRAS | 1.71 |
| 299 | Vogt-koyanagi-harada disease | Enrichment | HLA-DRB1 | 1.71 |
| 300 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.64 |
| 301 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.64 |
| 302 | Myeloproliferative neoplasm | Enrichment | CBL | 1.64 |
| 303 | Histiocytoid hemangioma | Enrichment | FOS | 1.64 |
| 304 | Vascular dementia | Enrichment | TNF | 1.64 |
| 305 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.64 |
| 306 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.64 |
| 307 | Erythrocytosis, familial, 1 | Enrichment | JAK2 | 1.59 |
| 308 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.59 |
| 309 | Small cell cancer of the lung | Enrichment | TP53 | 1.59 |
| 310 | Temporal arteritis | Enrichment | HLA-DRB1 | 1.59 |
| 311 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.59 |
| 312 | Budd-chiari syndrome | Enrichment | JAK2 | 1.59 |
| 313 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.59 |
| 314 | Spinocerebellar ataxia 15 | Enrichment | ITPR1 | 1.59 |
| 315 | Mantle cell lymphoma | Enrichment | CCND1 | 1.59 |
| 316 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.59 |
| 317 | Hepatitis b | Enrichment | IFNAR2 | 1.59 |
| 318 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.59 |
| 319 | Epidermolytic nevus | Enrichment | HRAS | 1.59 |
| 320 | Pediatric systemic lupus erythematosus | Enrichment | STAT4 | 1.59 |
| 321 | Systemic-onset juvenile idiopathic arthritis | Enrichment | HLA-DRB1 | 1.59 |
| 322 | Glioma | Enrichment | PTEN | 1.59 |
| 323 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.56 |
| 324 | Cowden syndrome 1 | Enrichment | PIK3CA | 1.56 |
| 325 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.56 |
| 326 | Testicular germ cell tumor | Enrichment | BCL10 | 1.56 |
| 327 | Granulomatosis with polyangiitis | Enrichment | CTLA4 | 1.56 |
| 328 | Il10-related early-onset inflammatory bowel disease | Enrichment | IL10 | 1.56 |
| 329 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.56 |
| 330 | Leukemia, acute myeloid | Enrichment | JAK2, TP53 | 1.55 |
| 331 | Nevus, epidermal | Enrichment | PIK3CA | 1.49 |
| 332 | Gallbladder cancer | Enrichment | PIK3CA | 1.49 |
| 333 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.49 |
| 334 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.49 |
| 335 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.49 |
| 336 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.49 |
| 337 | Narcolepsy 2 | Enrichment | HLA-DRB1 | 1.49 |
| 338 | Lymphoma | Enrichment | TP53 | 1.49 |
| 339 | Hemangioma | Enrichment | PTEN | 1.49 |
| 340 | Diffuse cutaneous systemic sclerosis | Enrichment | HLA-DRB1 | 1.49 |
| 341 | Spinocerebellar ataxia, autosomal recessive 16 | Enrichment | ITPR1 | 1.41 |
| 342 | Keratoconus | Enrichment | TSC1 | 1.41 |
| 343 | Limited scleroderma | Enrichment | HLA-DRB1 | 1.41 |
| 344 | Rheumatoid arthritis | Enrichment | IL10 | 1.39 |
| 345 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.39 |
| 346 | Coronary heart disease 5 | Enrichment | IKBKG | 1.39 |
| 347 | Esophageal cancer | Enrichment | TP53 | 1.35 |
| 348 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.35 |
| 349 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.35 |
| 350 | Myelofibrosis | Enrichment | JAK2 | 1.35 |
| 351 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.35 |
| 352 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.35 |
| 353 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.34 |
| 354 | Aplastic anemia | Enrichment | IFNG | 1.34 |
| 355 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN, TP53 | 1.30 |
| 356 | Glioma susceptibility 1 | Enrichment | TP53 | 1.29 |
| 357 | Narcolepsy 1 | Enrichment | HLA-DRB1 | 1.29 |
| 358 | Myeloma, multiple | Enrichment | CCND1, TP53 | 1.28 |
| 359 | Primary ovarian insufficiency | Enrichment | JAK2, RICTOR | 1.24 |
| 360 | Leukemia, acute lymphoblastic 3 | Enrichment | JAK2 | 1.24 |
| 361 | Primary hyperaldosteronism | Enrichment | TP53 | 1.24 |
| 362 | Aortic valve disease 1 | Enrichment | SOS1 | 1.23 |
| 363 | Alzheimer's disease | Enrichment | TNF | 1.23 |
| 364 | Walker-warburg syndrome | Enrichment | DAG1 | 1.20 |
| 365 | Cleft lip/palate | Enrichment | DLG1 | 1.20 |
| 366 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.20 |
| 367 | Familial colorectal cancer | Enrichment | TP53 | 1.20 |
| 368 | Lynch syndrome | Enrichment | PIK3CA | 1.17 |
| 369 | Meningioma, familial | Enrichment | PTEN | 1.16 |
| 370 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.16 |
| 371 | Myelodysplastic syndrome | Enrichment | TP53 | 1.16 |
| 372 | Uterine corpus cancer | Enrichment | PTEN | 1.16 |
| 373 | Specific learning disability | Enrichment | MAPK1 | 1.16 |
| 374 | Creatine phosphokinase, elevated serum | Enrichment | DAG1 | 1.14 |
| 375 | Isolated elevated serum creatine phosphokinase levels | Enrichment | DAG1 | 1.14 |
| 376 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.12 |
| 377 | Lung cancer susceptibility 3 | Enrichment | TP53 | 1.06 |
| 378 | Cardiomyopathy, dilated, 1a | Enrichment | NFATC2 | 1.03 |
| 379 | Endometrial cancer | Enrichment | PIK3CA | 1.03 |
| 380 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 1.03 |
| 381 | Anterior segment dysgenesis | Enrichment | ITPR1 | 1.03 |
| 382 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 1.03 |
| 383 | Kidney disease | Enrichment | TSC1 | 1.03 |
| 384 | Rare genetic intellectual disability | Enrichment | MTOR | 1.03 |
| 385 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.01 |
| 386 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.98 |
| 387 | Heart, malformation of | Enrichment | MAPK1 | 0.95 |
| 388 | Hepatoblastoma | Enrichment | TP53 | 0.89 |
| 389 | Myocardial infarction | Enrichment | LTA | 0.87 |
| 390 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.85 |
| 391 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 0.85 |
| 392 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.85 |
| 393 | Left ventricular noncompaction | Enrichment | RAF1 | 0.82 |
| 394 | Congenital nervous system abnormality | Enrichment | PTEN, TSC2 | 0.81 |
| 395 | Nervous system disease | Enrichment | PTEN, TSC2 | 0.81 |
| 396 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.80 |
| 397 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.76 |
| 398 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.73 |
| 399 | Diamond-blackfan anemia | Enrichment | TP53 | 0.68 |
| 400 | Hypertelorism | Enrichment | PIK3CA | 0.67 |
| 401 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.66 |
| 402 | West syndrome | Enrichment | TSC2 | 0.60 |
| 403 | Spastic ataxia | Enrichment | ITPR1 | 0.53 |
| 404 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.51 |
| 405 | Microcephaly | Enrichment | MAPK1 | 0.25 |