| 1 | Breast cancer | Enrichment | AKT1, ATM, BARD1, BLM, BRCA1, CASP8, CHEK2, CYP17A1, JUN, MRE11, MSH2, MSH6, PIK3CA, PTEN, RAD50, TP53 | 16.00 |
| 2 | Ovarian cancer | Enrichment | AKT1, ATM, BARD1, BLM, BRCA1, CHEK2, MRE11, MSH2, MSH6, PTEN, RAD50, RB1, TP53 | 16.00 |
| 3 | Hereditary breast carcinoma | Enrichment | AKT1, ATM, BARD1, BLM, BRCA1, CHEK2, MSH2, MSH6, PTEN, RAD50, TP53 | 16.00 |
| 4 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, CHEK2, MRE11, MSH2, MSH6, PTEN, RAD50, TP53 | 11.69 |
| 5 | Colorectal cancer | Enrichment | AKT1, ATM, BAX, BLM, BRCA1, CHEK2, MSH2, MSH6, TP53 | 11.55 |
| 6 | Endometrial cancer | Enrichment | ATM, BARD1, BLM, BRCA1, CHEK2, MSH2, MSH6, PIK3CA, PTEN | 11.47 |
| 7 | Gastric cancer | Enrichment | ATM, BARD1, BRCA1, CDK4, CHEK2, MSH2, MSH6, PTEN, TP53 | 11.45 |
| 8 | Uterine corpus cancer | Enrichment | ATM, BRCA1, CHEK2, MSH2, MSH6, PTEN | 11.00 |
| 9 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BARD1, BLM, BRCA1, CDK4, CHEK2, MRE11, MSH2, MSH6, PTEN, RAD50, RB1, TP53 | 10.67 |
| 10 | Bladder cancer | Enrichment | ARID1A, ATM, BRCA1, HRAS, PIK3CA, PTEN, RB1, TP53, TSC1 | 10.65 |
| 11 | Prostate cancer | Enrichment | AR, ATM, BRCA1, CHEK2, MSH6, PIK3CA, PTEN, TP53 | 10.23 |
| 12 | Rhabdomyosarcoma | Enrichment | BRCA1, MSH2, MSH6, PTEN, TP53 | 9.23 |
| 13 | Noonan syndrome and noonan-related syndrome | Enrichment | HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1 | 9.05 |
| 14 | Adult hepatocellular carcinoma | Enrichment | CASP8, PIK3CA, TP53, TSC1, TSC2 | 8.50 |
| 15 | Focal cortical dysplasia, type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.47 |
| 16 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR, RHEB, TSC1, TSC2 | 8.47 |
| 17 | Lynch syndrome 1 | Enrichment | ATM, CHEK2, MSH2, MSH6 | 7.96 |
| 18 | Hemimegalencephaly | Enrichment | MTOR, PIK3CA, PTEN, RHEB | 7.77 |
| 19 | Noonan syndrome 1 | Enrichment | HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1 | 7.77 |
| 20 | Osteogenic sarcoma | Enrichment | CHEK2, RB1, TP53 | 7.69 |
| 21 | Bone osteosarcoma | Enrichment | CHEK2, RB1, TP53 | 7.69 |
| 22 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, CHEK2, MSH2 | 7.43 |
| 23 | Rasopathy | Enrichment | HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1 | 7.42 |
| 24 | Coffin-siris syndrome 1 | Enrichment | ARID1A, ARID1B, SMARCA4, SMARCC2, SMARCD1 | 7.15 |
| 25 | Lynch syndrome 4 | Enrichment | MSH2, MSH6, RB1 | 7.09 |
| 26 | Noonan syndrome 3 | Enrichment | HRAS, PTPN11, RAF1, SOS1 | 6.93 |
| 27 | Li-fraumeni syndrome | Enrichment | CHEK2, MDM2, TP53 | 6.39 |
| 28 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 6.38 |
| 29 | Pancreatic cancer | Enrichment | ATM, BRCA1, CHEK2, TP53 | 6.20 |
| 30 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1, PIK3CA, RASA1 | 6.16 |
| 31 | Lip and oral cavity carcinoma | Enrichment | HRAS, PIK3CA, RB1, TP53 | 5.80 |
| 32 | Colonic benign neoplasm | Enrichment | ATM, CHEK2, MRE11 | 5.77 |
| 33 | Lynch syndrome | Enrichment | CHEK2, MSH2, MSH6, PIK3CA | 5.36 |
| 34 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 5.12 |
| 35 | Sarcoma | Enrichment | CHEK2, TP53 | 5.12 |
| 36 | Breast adenocarcinoma | Enrichment | AKT1, PIK3CA, TP53 | 5.05 |
| 37 | Gliosarcoma | Enrichment | ATM, MSH2, TP53 | 4.96 |
| 38 | Diffuse large b-cell lymphoma | Enrichment | CHEK2, PTEN, STAT3, TP53 | 4.92 |
| 39 | Giant cell glioblastoma | Enrichment | ATM, MSH2, TP53 | 4.87 |
| 40 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1, PIK3CA, RASA1 | 4.81 |
| 41 | Hepatocellular carcinoma | Enrichment | CASP8, PIK3CA, RAD50, TP53 | 4.65 |
| 42 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, MYC | 4.64 |
| 43 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.64 |
| 44 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 4.64 |
| 45 | Adenocarcinoma | Enrichment | ATM, TP53 | 4.64 |
| 46 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.64 |
| 47 | Hepatoblastoma | Enrichment | BARD1, MSH2, TP53 | 4.58 |
| 48 | Cowden syndrome | Enrichment | AKT1, PIK3CA, PTEN | 4.44 |
| 49 | Lipoid congenital adrenal hyperplasia | Enrichment | CYP17A1, HSD3B2 | 4.35 |
| 50 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 4.34 |
| 51 | Mismatch repair cancer syndrome 1 | Enrichment | MSH2, MSH6 | 4.34 |
| 52 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 4.34 |
| 53 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 4.28 |
| 54 | Lymphangioleiomyomatosis | Enrichment | TSC1, TSC2 | 4.23 |
| 55 | Hypospadias 1, x-linked | Enrichment | AR, HSD3B2 | 4.23 |
| 56 | Lung non-small cell carcinoma | Enrichment | HRAS, MAP2K1, PIK3CA | 4.15 |
| 57 | Glioblastoma | Enrichment | ATM, MSH2 | 4.12 |
| 58 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 4.12 |
| 59 | Meningioma | Enrichment | AKT1, PIK3CA, PTEN | 4.03 |
| 60 | Lung cancer | Enrichment | BRCA1, CASP8, CHEK2 | 4.02 |
| 61 | Squamous cell carcinoma, head and neck | Enrichment | PTEN, TP53 | 3.80 |
| 62 | Tuberous sclerosis 1 | Enrichment | TSC1, TSC2 | 3.75 |
| 63 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | JAK1, STAT3 | 3.75 |
| 64 | Hamartoma | Enrichment | TSC1, TSC2 | 3.75 |
| 65 | Autism spectrum disorder | Enrichment | ACTL6B, ARID1B, MAP2K1, PTEN, PTPN11, TSC2 | 3.70 |
| 66 | Loeys-dietz syndrome | Enrichment | SMAD2, SMAD3 | 3.57 |
| 67 | Melanoma | Enrichment | CHEK2, PTEN | 3.47 |
| 68 | Familial colorectal cancer | Enrichment | MSH2, TP53 | 3.47 |
| 69 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1, MAP2K2 | 3.45 |
| 70 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | CRKL, MAPK1 | 3.45 |
| 71 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 3.45 |
| 72 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1, MAP2K2 | 3.45 |
| 73 | Tuberous sclerosis | Enrichment | TSC1, TSC2 | 3.45 |
| 74 | Noonan syndrome with multiple lentigines | Enrichment | PTPN11, RAF1 | 3.45 |
| 75 | Familial colorectal cancer type x | Enrichment | ATM, CHEK2 | 3.38 |
| 76 | Myeloma, multiple | Enrichment | ATM, BARD1, TP53 | 3.29 |
| 77 | Capillary malformations, congenital | Enrichment | PIK3CA, RASA1 | 3.23 |
| 78 | Lymphoma | Enrichment | PTPN11, TP53 | 3.23 |
| 79 | Lung cancer susceptibility 3 | Enrichment | RB1, TP53 | 3.17 |
| 80 | Carboxypeptidase n deficiency | Enrichment | CPN1 | 3.13 |
| 81 | Factor xiii, b subunit, deficiency of | Enrichment | F13B | 3.13 |
| 82 | Klippel-trenaunay-weber syndrome | Enrichment | PIK3CA, RASA1 | 3.06 |
| 83 | Cowden syndrome 1 | Enrichment | PIK3CA, PTEN | 3.06 |
| 84 | Hydrops fetalis, nonimmune | Enrichment | ARID1A, HRAS, PTPN11 | 2.99 |
| 85 | Nevus, epidermal | Enrichment | HRAS, PIK3CA | 2.92 |
| 86 | Thyroid cancer, nonmedullary, 2 | Enrichment | HRAS, PTEN | 2.92 |
| 87 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM, MTOR | 2.92 |
| 88 | Gallbladder cancer | Enrichment | PIK3CA, TP53 | 2.92 |
| 89 | Follicular thyroid carcinoma | Enrichment | HRAS, PTEN | 2.92 |
| 90 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | Enrichment | HSD3B2 | 2.83 |
| 91 | Cholesteatoma, congenital | Enrichment | F13B | 2.83 |
| 92 | 17-beta hydroxysteroid dehydrogenase iii deficiency | Enrichment | HSD17B3 | 2.83 |
| 93 | 3 beta-hydroxysteroid dehydrogenase deficiency | Enrichment | HSD3B2 | 2.83 |
| 94 | Cholesteatoma | Enrichment | F13B | 2.83 |
| 95 | Factor xiii deficiency | Enrichment | F13B | 2.83 |
| 96 | Melanocytic nevus syndrome, congenital | Enrichment | HRAS, RAF1 | 2.79 |
| 97 | Ewing sarcoma | Enrichment | ERG, ETV4 | 2.79 |
| 98 | Difference of sex development | Enrichment | AR, HSD17B3 | 2.79 |
| 99 | Non-immune hydrops fetalis | Enrichment | ARID1A, HRAS, PTPN11 | 2.76 |
| 100 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | Enrichment | CYP17A1 | 2.66 |
| 101 | D-bifunctional protein deficiency | Enrichment | HSD17B4 | 2.66 |
| 102 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 2.55 |
| 103 | Proteus syndrome | Enrichment | AKT1 | 2.55 |
| 104 | Bloom syndrome | Enrichment | BLM | 2.55 |
| 105 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.55 |
| 106 | Caspase 8 deficiency | Enrichment | CASP8 | 2.55 |
| 107 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.55 |
| 108 | Seckel syndrome 1 | Enrichment | ATR | 2.55 |
| 109 | Accelerated tumor formation | Enrichment | MDM2 | 2.55 |
| 110 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.55 |
| 111 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.55 |
| 112 | Papilloma of choroid plexus | Enrichment | TP53 | 2.55 |
| 113 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.55 |
| 114 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.55 |
| 115 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 2.55 |
| 116 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.55 |
| 117 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.55 |
| 118 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 2.55 |
| 119 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 2.55 |
| 120 | Immunodeficiency 31a | Enrichment | STAT1 | 2.55 |
| 121 | Cowden syndrome 6 | Enrichment | AKT1 | 2.55 |
| 122 | Loeys-dietz syndrome 6 | Enrichment | SMAD2 | 2.55 |
| 123 | Endometrial serous adenocarcinoma | Enrichment | ATM | 2.55 |
| 124 | Immunodeficiency 31b | Enrichment | STAT1 | 2.55 |
| 125 | Glioma susceptibility 2 | Enrichment | PTEN | 2.55 |
| 126 | Ductal carcinoma in situ | Enrichment | TP53 | 2.55 |
| 127 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 2.55 |
| 128 | Leiomyosarcoma | Enrichment | CHEK2 | 2.55 |
| 129 | Rectal benign neoplasm | Enrichment | MSH2 | 2.55 |
| 130 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.55 |
| 131 | Trilateral retinoblastoma | Enrichment | RB1 | 2.55 |
| 132 | Congenital heart defects, multiple types, 8, with or without heterotaxy | Enrichment | SMAD2 | 2.55 |
| 133 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.55 |
| 134 | Ascending colon cancer | Enrichment | MSH2 | 2.55 |
| 135 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.55 |
| 136 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 2.55 |
| 137 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 2.55 |
| 138 | Choroid plexus cancer | Enrichment | TP53 | 2.55 |
| 139 | Ovarian cyst | Enrichment | MSH2 | 2.55 |
| 140 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.55 |
| 141 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 2.55 |
| 142 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.55 |
| 143 | Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency | Enrichment | JAK1 | 2.55 |
| 144 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 2.55 |
| 145 | Lung oat cell carcinoma | Enrichment | RB1 | 2.55 |
| 146 | Atrial heart septal defect | Enrichment | ACTL6A, SMARCA4 | 2.51 |
| 147 | Interatrial communication | Enrichment | ACTL6A, SMARCA4 | 2.51 |
| 148 | Specific learning disability | Enrichment | MAPK1, PTPN11 | 2.51 |
| 149 | Pseudohermaphroditism | Enrichment | HSD17B3 | 2.43 |
| 150 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | Enrichment | CYP17A1 | 2.35 |
| 151 | 21-hydroxylase-deficient congenital adrenal hyperplasia | Enrichment | CYP17A1 | 2.35 |
| 152 | Thrombophilia due to thrombin defect | Enrichment | F13B | 2.29 |
| 153 | Burkitt lymphoma | Enrichment | MYC | 2.25 |
| 154 | Muir-torre syndrome | Enrichment | MSH2 | 2.25 |
| 155 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.25 |
| 156 | Cervical cancer | Enrichment | TP53 | 2.25 |
| 157 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.25 |
| 158 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.25 |
| 159 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 2.25 |
| 160 | Immunodeficiency 31c | Enrichment | STAT1 | 2.25 |
| 161 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.25 |
| 162 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 2.25 |
| 163 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 2.25 |
| 164 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 2.25 |
| 165 | Pancreatic cancer 4 | Enrichment | BRCA1 | 2.25 |
| 166 | Recessive dystrophic epidermolysis bullosa | Enrichment | MMP1 | 2.25 |
| 167 | Congenital fibrosarcoma | Enrichment | TP53 | 2.25 |
| 168 | High grade glioma | Enrichment | ATM | 2.25 |
| 169 | Autoinflammation, immune dysregulation, and eosinophilia | Enrichment | JAK1 | 2.25 |
| 170 | Cervix carcinoma | Enrichment | TP53 | 2.25 |
| 171 | Hodgkin's lymphoma | Enrichment | TP53 | 2.25 |
| 172 | T-cell prolymphocytic leukemia | Enrichment | ATM | 2.25 |
| 173 | Inflammatory breast carcinoma | Enrichment | BRCA1 | 2.25 |
| 174 | Mismatch repair cancer syndrome 3 | Enrichment | MSH6 | 2.25 |
| 175 | Peritoneum cancer | Enrichment | BRCA1 | 2.25 |
| 176 | Bilateral breast cancer | Enrichment | BRCA1 | 2.25 |
| 177 | Vacterl with hydrocephalus | Enrichment | PTEN | 2.25 |
| 178 | Familial retinoblastoma | Enrichment | RB1 | 2.25 |
| 179 | Juvenile polyposis of infancy | Enrichment | PTEN | 2.25 |
| 180 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.25 |
| 181 | Renal cell carcinoma, nonpapillary | Enrichment | ATM, MTOR | 2.23 |
| 182 | Rare genetic intellectual disability | Enrichment | ARID1B, MTOR | 2.23 |
| 183 | Perrault syndrome | Enrichment | HSD17B4 | 2.23 |
| 184 | Perrault syndrome 2 | Enrichment | HSD17B4 | 2.18 |
| 185 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | ARID1A, ARID1B | 2.18 |
| 186 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | SMAD2, SMAD3 | 2.17 |
| 187 | Macrodactyly | Enrichment | PIK3CA | 2.11 |
| 188 | Metachondromatosis | Enrichment | PTPN11 | 2.11 |
| 189 | Cystic angiomatosis of bone, diffuse | Enrichment | RASA1 | 2.11 |
| 190 | Torticollis | Enrichment | ACTL6A | 2.11 |
| 191 | Prostate cancer, hereditary, x-linked 3 | Enrichment | AR | 2.11 |
| 192 | Androgen insensitivity, partial | Enrichment | AR | 2.11 |
| 193 | Deafness, autosomal recessive 26 | Enrichment | GAB1 | 2.11 |
| 194 | Noonan syndrome 5 | Enrichment | RAF1 | 2.11 |
| 195 | Noonan syndrome 4 | Enrichment | SOS1 | 2.11 |
| 196 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.11 |
| 197 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.11 |
| 198 | Megalencephaly, autosomal dominant | Enrichment | PIK3CA | 2.11 |
| 199 | Leopard syndrome 1 | Enrichment | PTPN11 | 2.11 |
| 200 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.11 |
| 201 | Cowden syndrome 5 | Enrichment | PIK3CA | 2.11 |
| 202 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.11 |
| 203 | Iga nephropathy 3 | Enrichment | SPRY2 | 2.11 |
| 204 | Intellectual developmental disorder with severe speech and ambulation defects | Enrichment | ACTL6B | 2.11 |
| 205 | Cerebral cavernous malformations 4 | Enrichment | PIK3CA | 2.11 |
| 206 | Coffin-siris syndrome 11 | Enrichment | SMARCD1 | 2.11 |
| 207 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.11 |
| 208 | Hydrocephalus, congenital, 5 | Enrichment | SMARCC1 | 2.11 |
| 209 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | Enrichment | PAK1 | 2.11 |
| 210 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.11 |
| 211 | Hemifacial myohyperplasia | Enrichment | PIK3CA | 2.11 |
| 212 | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | Enrichment | PIK3CA | 2.11 |
| 213 | Melorheostosis | Enrichment | MAP2K1 | 2.11 |
| 214 | Leopard syndrome 2 | Enrichment | RAF1 | 2.11 |
| 215 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 2.11 |
| 216 | Cardiofaciocutaneous syndrome 4 | Enrichment | MAP2K2 | 2.11 |
| 217 | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | Enrichment | RAP1B | 2.11 |
| 218 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.11 |
| 219 | Arid1b-related disorder | Enrichment | ARID1B | 2.11 |
| 220 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.11 |
| 221 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.11 |
| 222 | Trigonitis | Enrichment | RAF1 | 2.11 |
| 223 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | Enrichment | PIK3CA | 2.11 |
| 224 | Lymphatic malformation 14 | Enrichment | ERG | 2.11 |
| 225 | Hypospadias | Enrichment | PIK3CA | 2.11 |
| 226 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.11 |
| 227 | Rare venous malformation | Enrichment | PIK3CA | 2.11 |
| 228 | Gorham's disease | Enrichment | RASA1 | 2.11 |
| 229 | Diaphragmatic eventration | Enrichment | PIK3CA | 2.11 |
| 230 | Autosomal recessive severe congenital neutropenia | Enrichment | SMARCD2 | 2.11 |
| 231 | Complete androgen insensitivity syndrome | Enrichment | AR | 2.11 |
| 232 | Pik3ca-related overgrowth spectrum | Enrichment | PIK3CA | 2.11 |
| 233 | Rare combined vascular malformation | Enrichment | PIK3CA | 2.11 |
| 234 | Cavernous lymphangioma | Enrichment | PIK3CA | 2.11 |
| 235 | Pik3ca-related overgrowth syndrome | Enrichment | PIK3CA | 2.11 |
| 236 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.11 |
| 237 | Hemihyperplasia-multiple lipomatosis syndrome | Enrichment | PIK3CA | 2.11 |
| 238 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.11 |
| 239 | Eccrine angiomatous hamartoma | Enrichment | PIK3CA | 2.11 |
| 240 | Macrodactyly of toe | Enrichment | PIK3CA | 2.11 |
| 241 | Temporomandibular joint anomaly | Enrichment | DOCK1 | 2.11 |
| 242 | Malignant astrocytoma | Enrichment | PTPN11 | 2.11 |
| 243 | Epilepsy, myoclonic juvenile | Enrichment | HSD17B3 | 2.09 |
| 244 | Retinoblastoma | Enrichment | RB1 | 2.08 |
| 245 | Ataxia-telangiectasia | Enrichment | ATM | 2.08 |
| 246 | Polycythemia vera | Enrichment | ATM | 2.08 |
| 247 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.08 |
| 248 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.08 |
| 249 | Lynch syndrome 5 | Enrichment | MSH6 | 2.08 |
| 250 | Hypotrichosis 8 | Enrichment | RB1 | 2.08 |
| 251 | Koolen-de vries syndrome | Enrichment | ATM | 2.08 |
| 252 | Loeys-dietz syndrome 1 | Enrichment | SMAD2 | 2.08 |
| 253 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.08 |
| 254 | Anaplastic astrocytoma | Enrichment | TP53 | 2.08 |
| 255 | Cellular ependymoma | Enrichment | MSH2 | 2.08 |
| 256 | Tanycytic ependymoma | Enrichment | MSH2 | 2.08 |
| 257 | Papillary ependymoma | Enrichment | MSH2 | 2.08 |
| 258 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 2.08 |
| 259 | Laryngeal squamous cell carcinoma | Enrichment | PTEN | 2.08 |
| 260 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | MSH6 | 2.08 |
| 261 | Colon adenocarcinoma | Enrichment | MSH6 | 2.08 |
| 262 | Melanoma of soft tissue | Enrichment | ATF1 | 2.08 |
| 263 | Clear cell ependymoma | Enrichment | MSH2 | 2.08 |
| 264 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | MRE11 | 1.95 |
| 265 | Gaucher disease, type i | Enrichment | MSH6 | 1.95 |
| 266 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.95 |
| 267 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1 | 1.95 |
| 268 | Cholangiocarcinoma | Enrichment | BRCA1 | 1.95 |
| 269 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.95 |
| 270 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.95 |
| 271 | Aortic aneurysm | Enrichment | SMAD3 | 1.95 |
| 272 | Hemoglobin c disease | Enrichment | CHEK2 | 1.95 |
| 273 | Glioma | Enrichment | PTEN | 1.95 |
| 274 | Benign ependymoma | Enrichment | MSH2 | 1.95 |
| 275 | Oculomotor apraxia | Enrichment | ATM | 1.95 |
| 276 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.95 |
| 277 | Perrault syndrome 1 | Enrichment | HSD17B4 | 1.93 |
| 278 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.86 |
| 279 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.86 |
| 280 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1 | 1.86 |
| 281 | Follicular lymphoma | Enrichment | BCL2 | 1.86 |
| 282 | Hemangioma | Enrichment | PTEN | 1.86 |
| 283 | Microcephaly | Enrichment | ARID1A, ARID1B, MAPK1, PTPN11 | 1.82 |
| 284 | Fibromatosis, gingival, 1 | Enrichment | SOS1 | 1.81 |
| 285 | Alopecia, androgenetic, 1 | Enrichment | SMARCD1 | 1.81 |
| 286 | Costello syndrome | Enrichment | HRAS | 1.81 |
| 287 | Trichomegaly | Enrichment | ARID1B | 1.81 |
| 288 | Specific granule deficiency 1 | Enrichment | SMARCD2 | 1.81 |
| 289 | Spinal and bulbar muscular atrophy, x-linked 1 | Enrichment | AR | 1.81 |
| 290 | Pulmonic stenosis | Enrichment | SOS1 | 1.81 |
| 291 | Tropical calcific pancreatitis | Enrichment | SPINK1 | 1.81 |
| 292 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 1.81 |
| 293 | Keratosis, seborrheic | Enrichment | PIK3CA | 1.81 |
| 294 | Chromosome 6q24-q25 deletion syndrome | Enrichment | ARID1B | 1.81 |
| 295 | Noonan syndrome 8 | Enrichment | PIK3CA | 1.81 |
| 296 | Charcot-marie-tooth disease, demyelinating, type 4d | Enrichment | NDRG1 | 1.81 |
| 297 | Severe combined immunodeficiency with sensitivity to ionizing radiation | Enrichment | ARID1B | 1.81 |
| 298 | Specific granule deficiency 2 | Enrichment | SMARCD2 | 1.81 |
| 299 | Coffin-siris syndrome 8 | Enrichment | SMARCC2 | 1.81 |
| 300 | 46,xy sex reversal 1 | Enrichment | AR | 1.81 |
| 301 | Werner syndrome | Enrichment | PTPN11 | 1.81 |
| 302 | Androgen insensitivity syndrome | Enrichment | AR | 1.81 |
| 303 | Cebalid syndrome | Enrichment | MTOR | 1.81 |
| 304 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 1.81 |
| 305 | Rosette-forming glioneuronal tumor | Enrichment | PIK3CA | 1.81 |
| 306 | Otosclerosis 12 | Enrichment | SMARCA4 | 1.81 |
| 307 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 1.81 |
| 308 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.81 |
| 309 | Charcot-marie-tooth disease type 4d | Enrichment | NDRG1 | 1.81 |
| 310 | Developmental and epileptic encephalopathy 76 | Enrichment | ACTL6B | 1.81 |
| 311 | Posterior hypospadias | Enrichment | AR | 1.81 |
| 312 | Tafro syndrome | Enrichment | MAP2K2 | 1.81 |
| 313 | Specific granule deficiency | Enrichment | SMARCD2 | 1.81 |
| 314 | Wooly hair nevus | Enrichment | HRAS | 1.81 |
| 315 | Wilms tumor 5 | Enrichment | CHEK2 | 1.78 |
| 316 | Adrenocortical carcinoma | Enrichment | TP53 | 1.78 |
| 317 | Clear cell renal cell carcinoma | Enrichment | ATM | 1.78 |
| 318 | Chronic mucocutaneous candidiasis | Enrichment | STAT1 | 1.78 |
| 319 | Esophageal cancer | Enrichment | TP53 | 1.71 |
| 320 | Essential thrombocythemia | Enrichment | TP53 | 1.71 |
| 321 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.71 |
| 322 | Severe covid-19 | Enrichment | F13B | 1.67 |
| 323 | Glioma susceptibility 1 | Enrichment | TP53 | 1.65 |
| 324 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.65 |
| 325 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 1.64 |
| 326 | Pompe disease, infantile-onset | Enrichment | PIK3CA | 1.64 |
| 327 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.64 |
| 328 | Nuchal bleb, familial | Enrichment | SOS1 | 1.64 |
| 329 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 1.64 |
| 330 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | Enrichment | PIK3CA | 1.64 |
| 331 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.64 |
| 332 | Nail disorder, nonsyndromic congenital, 9 | Enrichment | ARID1B | 1.64 |
| 333 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.64 |
| 334 | Coffin-siris syndrome 2 | Enrichment | ARID1A | 1.64 |
| 335 | Umbilical hernia | Enrichment | ACTL6A | 1.64 |
| 336 | Hyper ige syndrome | Enrichment | STAT3 | 1.64 |
| 337 | Wieacker-wolff syndrome | Enrichment | RASA1 | 1.64 |
| 338 | Xanthinuria, type ii | Enrichment | TSC2 | 1.64 |
| 339 | Periventricular leukomalacia | Enrichment | ARID1A | 1.64 |
| 340 | Spermatocytoma | Enrichment | HRAS | 1.64 |
| 341 | Tricuspid valve insufficiency | Enrichment | PTPN11 | 1.64 |
| 342 | Keratoacanthoma | Enrichment | PIK3CA | 1.64 |
| 343 | Primary hyperaldosteronism | Enrichment | TP53 | 1.60 |
| 344 | Familial thoracic aortic aneurysm and dissection | Enrichment | SMAD3 | 1.60 |
| 345 | Immune deficiency disease | Enrichment | ATM | 1.52 |
| 346 | Meningioma, familial | Enrichment | PTEN | 1.52 |
| 347 | Myelodysplastic syndrome | Enrichment | TP53 | 1.52 |
| 348 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.51 |
| 349 | Nicolaides-baraitser syndrome | Enrichment | ARID1B | 1.51 |
| 350 | Neurofibromatosis-noonan syndrome | Enrichment | MAP2K2 | 1.51 |
| 351 | Lipodystrophy, congenital generalized, type 2 | Enrichment | ACTL6B | 1.51 |
| 352 | Megalencephaly-capillary malformation-polymicrogyria syndrome | Enrichment | PIK3CA | 1.51 |
| 353 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.51 |
| 354 | Blepharophimosis | Enrichment | ARID1B | 1.51 |
| 355 | Cerebrovascular disease | Enrichment | PIK3CA | 1.51 |
| 356 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.51 |
| 357 | Epidermolytic nevus | Enrichment | HRAS | 1.51 |
| 358 | Familial cerebral cavernous malformations | Enrichment | PIK3CA | 1.51 |
| 359 | Smarca2-related nicolaides-baraitser syndrome | Enrichment | ARID1B | 1.51 |
| 360 | Gingival fibromatosis | Enrichment | SOS1 | 1.51 |
| 361 | Nk-cell enteropathy | Enrichment | CHEK2 | 1.45 |
| 362 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.42 |
| 363 | Histiocytoid hemangioma | Enrichment | FOS | 1.42 |
| 364 | Aortic aneurysm, familial thoracic 1 | Enrichment | SMAD3 | 1.41 |
| 365 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 1.41 |
| 366 | Seckel syndrome | Enrichment | ATR | 1.41 |
| 367 | Wilms tumor 1 | Enrichment | CHEK2 | 1.38 |
| 368 | Primary ovarian insufficiency | Enrichment | CYP17A1 | 1.37 |
| 369 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | RASA1 | 1.34 |
| 370 | Hemihyperplasia, isolated | Enrichment | PIK3CA | 1.34 |
| 371 | Hemangioma, capillary infantile | Enrichment | RASA1 | 1.34 |
| 372 | Wiedemann-steiner syndrome | Enrichment | ARID1B | 1.34 |
| 373 | Basal cell carcinoma 1 | Enrichment | RASA1 | 1.34 |
| 374 | Inguinal hernia | Enrichment | ACTL6A | 1.34 |
| 375 | Keratoconus | Enrichment | TSC1 | 1.34 |
| 376 | Patent ductus arteriosus | Enrichment | PTPN11 | 1.34 |
| 377 | Lung squamous cell carcinoma | Enrichment | PIK3CA | 1.34 |
| 378 | Hypertrichosis | Enrichment | ARID1B | 1.34 |
| 379 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4 | 1.33 |
| 380 | Polycystic liver disease | Enrichment | CDC25A | 1.33 |
| 381 | Autosomal dominant polycystic liver disease | Enrichment | CDC25A | 1.33 |
| 382 | Congenital nervous system abnormality | Enrichment | HSD17B4, PTEN, TSC2 | 1.31 |
| 383 | Nervous system disease | Enrichment | HSD17B4, PTEN, TSC2 | 1.31 |
| 384 | Ehlers-danlos syndrome | Enrichment | SMAD3 | 1.28 |
| 385 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.28 |
| 386 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.28 |
| 387 | Hereditary hemorrhagic telangiectasia | Enrichment | RASA1 | 1.28 |
| 388 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.28 |
| 389 | Congenital hydrocephalus | Enrichment | SMARCC1 | 1.28 |
| 390 | Overgrowth syndrome | Enrichment | MTOR | 1.28 |
| 391 | Rare genetic deafness | Enrichment | HSD17B4 | 1.25 |
| 392 | Gastroesophageal reflux | Enrichment | ACTL6A | 1.22 |
| 393 | Neuroblastoma | Enrichment | SMARCA4 | 1.22 |
| 394 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.22 |
| 395 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.20 |
| 396 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYC | 1.20 |
| 397 | Neurofibromatosis, type i | Enrichment | ERG | 1.17 |
| 398 | Ventricular septal defect | Enrichment | SMARCA4 | 1.17 |
| 399 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | AR, PTPN11 | 1.16 |
| 400 | Pectus excavatum | Enrichment | PTPN11 | 1.09 |
| 401 | 46,xy complete gonadal dysgenesis | Enrichment | AR | 1.09 |
| 402 | Diabetes mellitus | Enrichment | SPINK1 | 1.09 |
| 403 | Connective tissue disease | Enrichment | SMAD3 | 1.07 |
| 404 | Epicanthus | Enrichment | PTPN11 | 1.05 |
| 405 | Septooptic dysplasia | Enrichment | ARID1A | 1.05 |
| 406 | Juvenile myelomonocytic leukemia | Enrichment | PTPN11 | 1.05 |
| 407 | Congenital long qt syndrome | Enrichment | PTPN11 | 1.05 |
| 408 | Fanconi anemia, complementation group a | Enrichment | BRCA1 | 1.03 |
| 409 | Aortic valve disease 1 | Enrichment | SOS1 | 1.02 |
| 410 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.02 |
| 411 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.02 |
| 412 | Diamond-blackfan anemia | Enrichment | TP53 | 1.02 |
| 413 | Hereditary chronic pancreatitis | Enrichment | SPINK1 | 0.99 |
| 414 | 46,xy partial gonadal dysgenesis | Enrichment | SOS1 | 0.99 |
| 415 | Leukemia, acute myeloid | Enrichment | TP53 | 0.97 |
| 416 | Corpus callosum, agenesis of | Enrichment | ARID1B | 0.96 |
| 417 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 0.96 |
| 418 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 0.96 |
| 419 | Kidney disease | Enrichment | TSC1 | 0.96 |
| 420 | Isolated corpus callosum agenesis | Enrichment | ARID1B | 0.96 |
| 421 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | ARID1B | 0.96 |
| 422 | Pancreatitis, hereditary | Enrichment | SPINK1 | 0.91 |
| 423 | Cleft palate, isolated | Enrichment | SMARCA4 | 0.91 |
| 424 | Heart, malformation of | Enrichment | MAPK1 | 0.88 |
| 425 | Charcot-marie-tooth disease type 4 | Enrichment | NDRG1 | 0.88 |
| 426 | Patent foramen ovale | Enrichment | PTPN11 | 0.88 |
| 427 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.77 |
| 428 | Scoliosis | Enrichment | PTPN11 | 0.77 |
| 429 | Strabismus | Enrichment | PTPN11 | 0.72 |
| 430 | Differentiated thyroid carcinoma | Enrichment | HRAS | 0.69 |
| 431 | Long qt syndrome 1 | Enrichment | PTPN11 | 0.68 |
| 432 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.65 |
| 433 | Male infertility | Enrichment | AR | 0.63 |
| 434 | Cakut | Enrichment | ETV4 | 0.63 |
| 435 | Left ventricular noncompaction | Enrichment | RAF1 | 0.62 |
| 436 | Complex neurodevelopmental disorder | Enrichment | ACTL6A, ACTL6B | 0.60 |
| 437 | Cerebral palsy | Enrichment | SMARCA4 | 0.58 |
| 438 | Charcot-marie-tooth disease | Enrichment | NDRG1 | 0.56 |
| 439 | Hypertrophic cardiomyopathy | Enrichment | PTPN11 | 0.55 |
| 440 | West syndrome | Enrichment | TSC2 | 0.54 |
| 441 | Sensorineural hearing loss | Enrichment | HGF | 0.51 |
| 442 | Thrombocytopenia | Enrichment | PTPN11 | 0.51 |
| 443 | Hypertelorism | Enrichment | PIK3CA | 0.48 |
| 444 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.47 |
| 445 | Undetermined early-onset epileptic encephalopathy | Enrichment | ACTL6B | 0.45 |
| 446 | Autism | Enrichment | ACTL6B | 0.37 |
| 447 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.33 |
| 448 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF | 0.30 |