| 1 | Severe combined immunodeficiency | Enrichment | CD247, CD3D, CD3E, CD3G, IKBKB, LCK, MALT1, PTPRC, ZAP70 | 16.00 |
| 2 | T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta | Enrichment | CD247, CD3D, CD3E | 7.35 |
| 3 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | CBL, CDC42, PTPN11 | 6.48 |
| 4 | Lymphoma, non-hodgkin, familial | Enrichment | B2M, BCL10, PRF1 | 5.61 |
| 5 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 5.17 |
| 6 | Stormorken syndrome | Enrichment | ORAI1, STIM1 | 4.89 |
| 7 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 4.75 |
| 8 | Noonan syndrome and noonan-related syndrome | Enrichment | CBL, PTPN11, SOS1 | 4.44 |
| 9 | Lymphoma, mucosa-associated lymphoid type | Enrichment | BCL10, MALT1 | 3.90 |
| 10 | Noonan syndrome 1 | Enrichment | CBL, PTPN11, SOS1 | 3.86 |
| 11 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA | 3.72 |
| 12 | Hemimegalencephaly | Enrichment | PIK3CA, PTEN | 3.72 |
| 13 | Rasopathy | Enrichment | CBL, PTPN11, SOS1 | 3.70 |
| 14 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 3.54 |
| 15 | Patent ductus arteriosus | Enrichment | FLNA, PTPN11 | 3.54 |
| 16 | Breast cancer | Enrichment | AKT1, PIK3CA, PTEN, SHC1 | 3.48 |
| 17 | Myopathy, tubular aggregate, 1 | Enrichment | ORAI1, STIM1 | 3.45 |
| 18 | Noonan syndrome 3 | Enrichment | PTPN11, SOS1 | 3.40 |
| 19 | Combined immunodeficiency | Enrichment | MALT1, ZAP70 | 3.16 |
| 20 | Combined t cell and b cell immunodeficiency | Enrichment | MALT1, ZAP70 | 3.16 |
| 21 | Combined t and b cell immunodeficiency | Enrichment | MALT1, ZAP70 | 3.16 |
| 22 | Hereditary breast carcinoma | Enrichment | AKT1, PIK3CA, PTEN | 3.02 |
| 23 | Juvenile myelomonocytic leukemia | Enrichment | CBL, PTPN11 | 2.91 |
| 24 | Rhabdomyosarcoma | Enrichment | CBL, PTEN | 2.65 |
| 25 | Patent foramen ovale | Enrichment | FLNA, PTPN11 | 2.55 |
| 26 | Macrodactyly | Enrichment | PIK3CA | 2.44 |
| 27 | Proteus syndrome | Enrichment | AKT1 | 2.44 |
| 28 | Incontinentia pigmenti | Enrichment | IKBKG | 2.44 |
| 29 | Hemophagocytic lymphohistiocytosis, familial, 2 | Enrichment | PRF1 | 2.44 |
| 30 | Autoinflammatory disease, systemic, x-linked | Enrichment | IKBKG | 2.44 |
| 31 | Noonan syndrome 4 | Enrichment | SOS1 | 2.44 |
| 32 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.44 |
| 33 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.44 |
| 34 | Bleeding disorder, platelet-type, 18 | Enrichment | RASGRP2 | 2.44 |
| 35 | Fetal encasement syndrome | Enrichment | CHUK | 2.44 |
| 36 | Immunodeficiency 116 | Enrichment | CD8A | 2.44 |
| 37 | Immunodeficiency 43 | Enrichment | B2M | 2.44 |
| 38 | Immunodeficiency 64 with lymphoproliferation | Enrichment | RASGRP1 | 2.44 |
| 39 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.44 |
| 40 | Immunodeficiency 15b | Enrichment | IKBKB | 2.44 |
| 41 | Immunodeficiency 81 | Enrichment | LCP2 | 2.44 |
| 42 | Immunodeficiency 15a | Enrichment | IKBKB | 2.44 |
| 43 | Immunodeficiency 48 | Enrichment | ZAP70 | 2.44 |
| 44 | Ectodermal dysplasia and immunodeficiency 1 | Enrichment | IKBKG | 2.44 |
| 45 | Immune dysregulation, autoimmunity, and autoinflammation | Enrichment | PLCG1 | 2.44 |
| 46 | Immunodeficiency 18 | Enrichment | CD3E | 2.44 |
| 47 | Dialysis-related amyloidosis | Enrichment | B2M | 2.44 |
| 48 | Persistent polyclonal b-cell lymphocytosis | Enrichment | CARD11 | 2.44 |
| 49 | Immunodeficiency 10 | Enrichment | STIM1 | 2.44 |
| 50 | Immunodeficiency 25 | Enrichment | CD247 | 2.44 |
| 51 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.44 |
| 52 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.44 |
| 53 | Birdshot chorioretinopathy | Enrichment | HLA-A | 2.44 |
| 54 | Cowden syndrome 6 | Enrichment | AKT1 | 2.44 |
| 55 | Hyperparathyroidism | Enrichment | TRPV6 | 2.44 |
| 56 | Immunodeficiency 12 | Enrichment | MALT1 | 2.44 |
| 57 | Immunodeficiency 123 with hpv-related verrucosis | Enrichment | CD28 | 2.44 |
| 58 | Immunodeficiency 105, severe combined | Enrichment | PTPRC | 2.44 |
| 59 | Autoimmune disease, multisystem, infantile-onset, 2 | Enrichment | ZAP70 | 2.44 |
| 60 | Immunodeficiency 22 | Enrichment | LCK | 2.44 |
| 61 | Bartsocas-papas syndrome 2 | Enrichment | CHUK | 2.44 |
| 62 | Cd45 deficiency | Enrichment | PTPRC | 2.44 |
| 63 | Hyperparathyroidism, transient neonatal | Enrichment | TRPV6 | 2.44 |
| 64 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.44 |
| 65 | Sezary's disease | Enrichment | BCL10 | 2.44 |
| 66 | Amyloidosis, hereditary systemic 6 | Enrichment | B2M | 2.44 |
| 67 | Immunodeficiency 19, severe combined | Enrichment | CD3D | 2.44 |
| 68 | Hypospadias | Enrichment | PIK3CA | 2.44 |
| 69 | Immunodeficiency 112 | Enrichment | MAP3K14 | 2.44 |
| 70 | Rare venous malformation | Enrichment | PIK3CA | 2.44 |
| 71 | Vegetative pyoderma gangrenosum | Enrichment | PTPN6 | 2.44 |
| 72 | Bullous pyoderma gangrenosum | Enrichment | PTPN6 | 2.44 |
| 73 | Immunodeficiency 64 | Enrichment | RASGRP1 | 2.44 |
| 74 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.44 |
| 75 | Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency | Enrichment | RASGRP1 | 2.44 |
| 76 | Pustular pyoderma gangrenosum | Enrichment | PTPN6 | 2.44 |
| 77 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.44 |
| 78 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency | Enrichment | CHUK | 2.44 |
| 79 | Immunodeficiency 19 | Enrichment | CD3D | 2.44 |
| 80 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.44 |
| 81 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.44 |
| 82 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.44 |
| 83 | Classic pyoderma gangrenosum | Enrichment | PTPN6 | 2.44 |
| 84 | Fatal post-viral neurodegenerative disorder | Enrichment | PRF1 | 2.44 |
| 85 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.44 |
| 86 | Mucosa-associated lymphoma | Enrichment | BCL10 | 2.44 |
| 87 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.44 |
| 88 | Macrodactyly of toe | Enrichment | PIK3CA | 2.44 |
| 89 | Nik deficiency | Enrichment | MAP3K14 | 2.44 |
| 90 | Zap70-related severe combined immunodeficiency | Enrichment | ZAP70 | 2.44 |
| 91 | Colorectal cancer | Enrichment | AKT1, BCL10, PIK3CA | 2.42 |
| 92 | Endometrial cancer | Enrichment | PIK3CA, PTEN | 2.42 |
| 93 | Metachondromatosis | Enrichment | PTPN11 | 2.35 |
| 94 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.35 |
| 95 | Thrombocytopenia 1 | Enrichment | WAS | 2.35 |
| 96 | Otopalatodigital syndrome, type i | Enrichment | FLNA | 2.35 |
| 97 | Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked | Enrichment | FLNA | 2.35 |
| 98 | Cherubism | Enrichment | SH3BP2 | 2.35 |
| 99 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.35 |
| 100 | Terminal osseous dysplasia | Enrichment | FLNA | 2.35 |
| 101 | Okt4 epitope deficiency | Enrichment | CD4 | 2.35 |
| 102 | Fg syndrome 2 | Enrichment | FLNA | 2.35 |
| 103 | Thrombocytopenia 3 | Enrichment | FYB1 | 2.35 |
| 104 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.35 |
| 105 | Otopalatodigital syndrome spectrum disorder | Enrichment | FLNA | 2.35 |
| 106 | Lymphoproliferative syndrome 1 | Enrichment | ITK | 2.35 |
| 107 | Graham little-piccardi-lassueur syndrome | Enrichment | HLA-DRA | 2.35 |
| 108 | Glioma susceptibility 2 | Enrichment | PTEN | 2.35 |
| 109 | Was-related disorders | Enrichment | WAS | 2.35 |
| 110 | X-linked ehlers-danlos syndrome | Enrichment | FLNA | 2.35 |
| 111 | Takenouchi-kosaki syndrome | Enrichment | CDC42 | 2.35 |
| 112 | Congenital autosomal recessive small-platelet thrombocytopenia | Enrichment | FYB1 | 2.35 |
| 113 | Immunodeficiency 79 | Enrichment | CD4 | 2.35 |
| 114 | Fibrous dysplasia of jaw | Enrichment | SH3BP2 | 2.35 |
| 115 | Nocarh syndrome | Enrichment | CDC42 | 2.35 |
| 116 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | Enrichment | FLNA | 2.35 |
| 117 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.35 |
| 118 | Malignant astrocytoma | Enrichment | PTPN11 | 2.35 |
| 119 | Lung cancer | Enrichment | MAP3K8, PIK3CA | 2.23 |
| 120 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 2.14 |
| 121 | Hyperparathyroidism, neonatal severe | Enrichment | TRPV6 | 2.14 |
| 122 | Ovarian germ cell cancer | Enrichment | CBL | 2.14 |
| 123 | Immunodeficiency 33 | Enrichment | IKBKG | 2.14 |
| 124 | Severe cutaneous adverse reaction | Enrichment | HLA-A | 2.14 |
| 125 | Pulmonic stenosis | Enrichment | SOS1 | 2.14 |
| 126 | Keratosis, seborrheic | Enrichment | PIK3CA | 2.14 |
| 127 | Immunodeficiency 9 | Enrichment | ORAI1 | 2.14 |
| 128 | Immunodeficiency 11a | Enrichment | CARD11 | 2.14 |
| 129 | Immunodeficiency 37 | Enrichment | BCL10 | 2.14 |
| 130 | Noonan syndrome 8 | Enrichment | PIK3CA | 2.14 |
| 131 | Immunodeficiency 11b with atopic dermatitis | Enrichment | CARD11 | 2.14 |
| 132 | Myopathy, tubular aggregate, 2 | Enrichment | ORAI1 | 2.14 |
| 133 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 2.14 |
| 134 | B-cell expansion with nfkb and t-cell anergy | Enrichment | CARD11 | 2.14 |
| 135 | Immunodeficiency 104, severe combined | Enrichment | PTPRC | 2.14 |
| 136 | Ectodermal dysplasia and immune deficiency | Enrichment | IKBKG | 2.14 |
| 137 | Immunodeficiency 17 | Enrichment | CD3G | 2.14 |
| 138 | Glucosephosphate dehydrogenase deficiency | Enrichment | IKBKG | 2.14 |
| 139 | Immunodeficiency 52 | Enrichment | LAT | 2.14 |
| 140 | Malignant germ cell tumor of ovary | Enrichment | CBL | 2.14 |
| 141 | Bladder cancer | Enrichment | PIK3CA, PTEN | 2.14 |
| 142 | Prostate cancer | Enrichment | PIK3CA, PTEN | 2.14 |
| 143 | Visceral neuropathy, familial, 1, autosomal recessive | Enrichment | FLNA | 2.05 |
| 144 | Neutropenia, severe congenital, x-linked | Enrichment | WAS | 2.05 |
| 145 | Otopalatodigital syndrome, type ii | Enrichment | FLNA | 2.05 |
| 146 | Melnick-needles syndrome | Enrichment | FLNA | 2.05 |
| 147 | Wiskott-aldrich syndrome | Enrichment | WAS | 2.05 |
| 148 | Frontometaphyseal dysplasia 1 | Enrichment | FLNA | 2.05 |
| 149 | Cardiac valvular dysplasia, x-linked | Enrichment | FLNA | 2.05 |
| 150 | Werner syndrome | Enrichment | PTPN11 | 2.05 |
| 151 | Lymphoproliferative syndrome | Enrichment | ITK | 2.05 |
| 152 | Immune system disease | Enrichment | CDC42 | 2.05 |
| 153 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.05 |
| 154 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.05 |
| 155 | Ovarian cancer | Enrichment | AKT1, PIK3CA, PTEN | 2.00 |
| 156 | Mesothelioma, malignant | Enrichment | BCL10 | 1.97 |
| 157 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.97 |
| 158 | Mycosis fungoides | Enrichment | CD28 | 1.97 |
| 159 | Nuchal bleb, familial | Enrichment | SOS1 | 1.97 |
| 160 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.97 |
| 161 | Neutrophilic dermatosis, acute febrile | Enrichment | PTPN6 | 1.97 |
| 162 | T-cell acute lymphoblastic leukemia | Enrichment | BCL10 | 1.97 |
| 163 | Testicular cancer | Enrichment | BCL10 | 1.97 |
| 164 | Keratoacanthoma | Enrichment | PIK3CA | 1.97 |
| 165 | Saczary syndrome | Enrichment | CD28 | 1.97 |
| 166 | Prune belly syndrome | Enrichment | FLNA | 1.88 |
| 167 | Arterial tortuosity syndrome | Enrichment | FLNA | 1.88 |
| 168 | Periventricular nodular heterotopia 1 | Enrichment | FLNA | 1.88 |
| 169 | Congenital short bowel syndrome | Enrichment | FLNA | 1.88 |
| 170 | Frontometaphyseal dysplasia | Enrichment | FLNA | 1.88 |
| 171 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 1.88 |
| 172 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.88 |
| 173 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.84 |
| 174 | Myopathy, autophagic vacuolar, infantile-onset | Enrichment | STIM1 | 1.84 |
| 175 | Bone mineral density quantitative trait locus 15 | Enrichment | TRPV6 | 1.84 |
| 176 | Cerebrovascular disease | Enrichment | PIK3CA | 1.84 |
| 177 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.84 |
| 178 | Immunodeficiency by defective expression of mhc class i | Enrichment | B2M | 1.84 |
| 179 | Gingival fibromatosis | Enrichment | SOS1 | 1.84 |
| 180 | Gastric cancer | Enrichment | PIK3CA, PTEN | 1.81 |
| 181 | Glycogen storage disease x | Enrichment | DBNL | 1.76 |
| 182 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11 | 1.76 |
| 183 | Glioma | Enrichment | PTEN | 1.76 |
| 184 | Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | Enrichment | TRAF6 | 1.75 |
| 185 | Capillary malformations, congenital | Enrichment | PIK3CA | 1.75 |
| 186 | Amyloidosis, hereditary systemic 2 | Enrichment | B2M | 1.75 |
| 187 | Anemia, congenital, nonspherocytic hemolytic, 1 | Enrichment | IKBKG | 1.75 |
| 188 | Hemophagocytic lymphohistiocytosis, familial, 1 | Enrichment | PRF1 | 1.75 |
| 189 | Follicular lymphoma | Enrichment | BCL10 | 1.75 |
| 190 | Myeloproliferative neoplasm | Enrichment | CBL | 1.75 |
| 191 | Aggressive systemic mastocytosis | Enrichment | CBL | 1.75 |
| 192 | Idiopathic aplastic anemia | Enrichment | PRF1 | 1.75 |
| 193 | Thrombocytopenia | Enrichment | PTPN11, WAS | 1.72 |
| 194 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA | 1.67 |
| 195 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.67 |
| 196 | Testicular germ cell tumor | Enrichment | BCL10 | 1.67 |
| 197 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.67 |
| 198 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.66 |
| 199 | Lymphoma | Enrichment | PTPN11 | 1.66 |
| 200 | Hemangioma | Enrichment | PTEN | 1.66 |
| 201 | Acute megakaryocytic leukemia | Enrichment | PTEN | 1.66 |
| 202 | Nevus, epidermal | Enrichment | PIK3CA | 1.60 |
| 203 | Capillary malformation-arteriovenous malformation 1 | Enrichment | PIK3CA | 1.60 |
| 204 | Gallbladder cancer | Enrichment | PIK3CA | 1.60 |
| 205 | Oligoarticular juvenile idiopathic arthritis | Enrichment | CD247 | 1.60 |
| 206 | Rheumatoid factor-negative juvenile idiopathic arthritis | Enrichment | CD247 | 1.60 |
| 207 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.51 |
| 208 | Squamous cell carcinoma, head and neck | Enrichment | PTEN | 1.51 |
| 209 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.51 |
| 210 | Inflammatory bowel disease 1 | Enrichment | PRKCQ | 1.49 |
| 211 | Coronary heart disease 5 | Enrichment | IKBKG | 1.49 |
| 212 | Arteriovenous malformation | Enrichment | PIK3CA | 1.49 |
| 213 | Adult hepatocellular carcinoma | Enrichment | PIK3CA | 1.49 |
| 214 | Fanconi anemia, complementation group c | Enrichment | FLNA | 1.46 |
| 215 | Myopathy, x-linked, with excessive autophagy | Enrichment | PIK3CA | 1.45 |
| 216 | Aplastic anemia | Enrichment | PRF1 | 1.45 |
| 217 | Asthma | Enrichment | CARD11 | 1.41 |
| 218 | Lung non-small cell carcinoma | Enrichment | PIK3CA | 1.41 |
| 219 | Lip and oral cavity carcinoma | Enrichment | PIK3CA | 1.37 |
| 220 | Melanoma | Enrichment | PTEN | 1.36 |
| 221 | Aortic valve disease 1 | Enrichment | SOS1 | 1.34 |
| 222 | Pectus excavatum | Enrichment | PTPN11 | 1.32 |
| 223 | Meningioma, familial | Enrichment | PTEN | 1.32 |
| 224 | Uterine corpus cancer | Enrichment | PTEN | 1.32 |
| 225 | Specific learning disability | Enrichment | PTPN11 | 1.32 |
| 226 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 1.31 |
| 227 | Epicanthus | Enrichment | PTPN11 | 1.29 |
| 228 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.29 |
| 229 | Lynch syndrome | Enrichment | PIK3CA | 1.28 |
| 230 | Pancreatitis, hereditary | Enrichment | TRPV6 | 1.22 |
| 231 | Periventricular nodular heterotopia | Enrichment | FLNA | 1.22 |
| 232 | Cleft palate, isolated | Enrichment | FLNA | 1.14 |
| 233 | Hepatocellular carcinoma | Enrichment | PIK3CA | 1.12 |
| 234 | Malaria | Enrichment | IKBKG | 1.10 |
| 235 | Diffuse large b-cell lymphoma | Enrichment | PTEN | 1.09 |
| 236 | Autoinflammatory disease | Enrichment | PRF1 | 1.08 |
| 237 | Autism spectrum disorder | Enrichment | PTEN, PTPN11 | 1.08 |
| 238 | Severe covid-19 | Enrichment | HLA-A | 1.00 |
| 239 | Scoliosis | Enrichment | PTPN11 | 1.00 |
| 240 | Hydrops fetalis, nonimmune | Enrichment | PTPN11 | 0.96 |
| 241 | Strabismus | Enrichment | PTPN11 | 0.95 |
| 242 | Inherited cancer-predisposing syndrome | Enrichment | PTEN, PTPN11 | 0.94 |
| 243 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.90 |
| 244 | Non-immune hydrops fetalis | Enrichment | PTPN11 | 0.89 |
| 245 | Hypertelorism | Enrichment | PIK3CA | 0.76 |
| 246 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.76 |
| 247 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | FLNA | 0.75 |
| 248 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN | 0.66 |
| 249 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | PTPN11 | 0.66 |
| 250 | Congenital nervous system abnormality | Enrichment | PTEN | 0.42 |
| 251 | Nervous system disease | Enrichment | PTEN | 0.42 |
| 252 | Microcephaly | Enrichment | PTPN11 | 0.37 |