| 1 | Gastric cancer | Enrichment | BRCA2, CDK4, CDKN2A, CHEK2 | 5.32 |
| 2 | Osteogenic sarcoma | Enrichment | CHEK2, RB1 | 4.69 |
| 3 | Bone osteosarcoma | Enrichment | CHEK2, RB1 | 4.69 |
| 4 | Inherited cancer-predisposing syndrome | Enrichment | BRCA2, CDK4, CDKN2A, CHEK2, RB1 | 4.62 |
| 5 | Pancreatic cancer | Enrichment | BRCA2, CDKN2A, CHEK2 | 4.42 |
| 6 | Breast cancer | Enrichment | BRCA2, CHEK2, CKS1B, ESR1 | 4.35 |
| 7 | Bladder cancer | Enrichment | BRCA2, CDKN2A, RB1 | 4.22 |
| 8 | Li-fraumeni syndrome | Enrichment | CDKN2A, CHEK2 | 3.99 |
| 9 | Ovarian cancer | Enrichment | BRCA2, CDKN2A, CHEK2, RB1 | 3.85 |
| 10 | Hereditary breast carcinoma | Enrichment | BRCA2, CHEK2, ESR1 | 3.68 |
| 11 | Melanoma | Enrichment | CDKN2A, CHEK2 | 3.52 |
| 12 | Uterine corpus cancer | Enrichment | BRCA2, CHEK2 | 3.43 |
| 13 | Familial colorectal cancer type x | Enrichment | BRCA2, CHEK2 | 3.43 |
| 14 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, RB1 | 3.35 |
| 15 | Breast-ovarian cancer, familial 1 | Enrichment | BRCA2, CHEK2 | 3.28 |
| 16 | Nk-cell enteropathy | Enrichment | AURKB, CHEK2 | 3.28 |
| 17 | Wilms tumor 1 | Enrichment | BRCA2, CHEK2 | 3.15 |
| 18 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4, CDKN2A | 3.04 |
| 19 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, CHEK2 | 2.94 |
| 20 | Endometrial cancer | Enrichment | BRCA2, CHEK2 | 2.86 |
| 21 | Colorectal cancer | Enrichment | BRCA2, CCND1, CHEK2 | 2.81 |
| 22 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, MYC | 2.78 |
| 23 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.58 |
| 24 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.58 |
| 25 | Cardiomyopathy, dilated, 1jj | Enrichment | LAMA4 | 2.58 |
| 26 | Glioma susceptibility 3 | Enrichment | BRCA2 | 2.58 |
| 27 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.58 |
| 28 | Pancreatic cancer 2 | Enrichment | BRCA2 | 2.58 |
| 29 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 2.58 |
| 30 | Melorheostosis | Enrichment | MAP2K1 | 2.58 |
| 31 | Retinitis pigmentosa 67 | Enrichment | NEK2 | 2.58 |
| 32 | Leiomyosarcoma | Enrichment | CHEK2 | 2.58 |
| 33 | Spinocerebellar ataxia, autosomal recessive 26 | Enrichment | XRCC1 | 2.58 |
| 34 | Trilateral retinoblastoma | Enrichment | RB1 | 2.58 |
| 35 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.58 |
| 36 | Lung oat cell carcinoma | Enrichment | RB1 | 2.58 |
| 37 | Prostate cancer | Enrichment | BRCA2, CHEK2 | 2.58 |
| 38 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.28 |
| 39 | Burkitt lymphoma | Enrichment | MYC | 2.28 |
| 40 | Stromme syndrome | Enrichment | CENPF | 2.28 |
| 41 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.28 |
| 42 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.28 |
| 43 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 2.28 |
| 44 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2 | 2.28 |
| 45 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.28 |
| 46 | Li-fraumeni syndrome 1 | Enrichment | CHEK2 | 2.28 |
| 47 | Sarcoma | Enrichment | CHEK2 | 2.28 |
| 48 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 2.28 |
| 49 | Inflammatory breast carcinoma | Enrichment | BRCA2 | 2.28 |
| 50 | Bilateral breast cancer | Enrichment | BRCA2 | 2.28 |
| 51 | Familial retinoblastoma | Enrichment | RB1 | 2.28 |
| 52 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 2.28 |
| 53 | Retinoblastoma | Enrichment | RB1 | 2.10 |
| 54 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 2.10 |
| 55 | Langerhans cell histiocytosis | Enrichment | MAP2K1 | 2.10 |
| 56 | Estrogen resistance | Enrichment | ESR1 | 2.10 |
| 57 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 2.10 |
| 58 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 2.10 |
| 59 | Hypotrichosis 8 | Enrichment | RB1 | 2.10 |
| 60 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 2.10 |
| 61 | Dedifferentiated liposarcoma | Enrichment | CDK4 | 2.10 |
| 62 | Squamous cell carcinoma | Enrichment | RB1 | 2.10 |
| 63 | Migraine without aura | Enrichment | ESR1 | 2.10 |
| 64 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 2.10 |
| 65 | Well-differentiated liposarcoma | Enrichment | CDK4 | 2.10 |
| 66 | Hereditary breast ovarian cancer syndrome | Enrichment | BRCA2, CHEK2 | 2.03 |
| 67 | Myeloma, multiple | Enrichment | BRCA2, CCND1 | 2.02 |
| 68 | Cardiofaciocutaneous syndrome 1 | Enrichment | MAP2K1 | 1.98 |
| 69 | Small cell cancer of the lung | Enrichment | RB1 | 1.98 |
| 70 | Cystinuria | Enrichment | CENPF | 1.98 |
| 71 | Chordoma | Enrichment | BRCA2 | 1.98 |
| 72 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA2 | 1.98 |
| 73 | Cholangiocarcinoma | Enrichment | BRCA2 | 1.98 |
| 74 | Ciliary dyskinesia, primary, 29 | Enrichment | CENPF | 1.98 |
| 75 | Lynch syndrome 4 | Enrichment | RB1 | 1.98 |
| 76 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.98 |
| 77 | Mantle cell lymphoma | Enrichment | CCND1 | 1.98 |
| 78 | Arthrogryposis multiplex congenita 3, myogenic type | Enrichment | ESR1 | 1.98 |
| 79 | Cardiofaciocutaneous syndrome | Enrichment | MAP2K1 | 1.98 |
| 80 | Hemoglobin c disease | Enrichment | CHEK2 | 1.98 |
| 81 | Von hippel-lindau syndrome | Enrichment | CCND1 | 1.88 |
| 82 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA2 | 1.88 |
| 83 | Histiocytoid hemangioma | Enrichment | FOS | 1.88 |
| 84 | Kabuki syndrome 1 | Enrichment | BRCA2 | 1.80 |
| 85 | Wilms tumor 5 | Enrichment | CHEK2 | 1.80 |
| 86 | Adrenocortical carcinoma | Enrichment | CDKN2A | 1.80 |
| 87 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.80 |
| 88 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.73 |
| 89 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A | 1.73 |
| 90 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2 | 1.68 |
| 91 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | BRCA2 | 1.63 |
| 92 | Polydactyly | Enrichment | BRCA2 | 1.63 |
| 93 | Arteriovenous malformation | Enrichment | MAP2K1 | 1.63 |
| 94 | Colonic benign neoplasm | Enrichment | CHEK2 | 1.63 |
| 95 | Lynch syndrome 1 | Enrichment | CHEK2 | 1.58 |
| 96 | Leukemia, chronic lymphocytic | Enrichment | CCND1 | 1.58 |
| 97 | Myopathy, x-linked, with excessive autophagy | Enrichment | MAP2K1 | 1.58 |
| 98 | Isolated tracheo-esophageal fistula | Enrichment | BRCA2 | 1.58 |
| 99 | Migraine with or without aura 1 | Enrichment | ESR1 | 1.54 |
| 100 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.54 |
| 101 | Lung non-small cell carcinoma | Enrichment | MAP2K1 | 1.54 |
| 102 | Medulloblastoma | Enrichment | BRCA2 | 1.44 |
| 103 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.44 |
| 104 | Lynch syndrome | Enrichment | CHEK2 | 1.41 |
| 105 | Septopreoptic holoprosencephaly | Enrichment | GAS1 | 1.41 |
| 106 | Midline interhemispheric variant of holoprosencephaly | Enrichment | GAS1 | 1.41 |
| 107 | Noonan syndrome and noonan-related syndrome | Enrichment | MAP2K1 | 1.41 |
| 108 | Rhabdomyosarcoma | Enrichment | BRCA2 | 1.38 |
| 109 | Microform holoprosencephaly | Enrichment | GAS1 | 1.38 |
| 110 | Lobar holoprosencephaly | Enrichment | GAS1 | 1.38 |
| 111 | Alobar holoprosencephaly | Enrichment | GAS1 | 1.35 |
| 112 | Semilobar holoprosencephaly | Enrichment | GAS1 | 1.33 |
| 113 | Esophageal atresia/tracheoesophageal fistula | Enrichment | BRCA2 | 1.31 |
| 114 | Hepatoblastoma | Enrichment | BRCA2 | 1.27 |
| 115 | Myocardial infarction | Enrichment | ESR1 | 1.25 |
| 116 | Tooth agenesis | Enrichment | TGFA | 1.25 |
| 117 | Noonan syndrome 1 | Enrichment | MAP2K1 | 1.23 |
| 118 | Rasopathy | Enrichment | MAP2K1 | 1.18 |
| 119 | Severe covid-19 | Enrichment | CENPF | 1.13 |
| 120 | Lung cancer | Enrichment | CHEK2 | 1.09 |
| 121 | Fanconi anemia, complementation group a | Enrichment | BRCA2 | 1.05 |
| 122 | Cerebral palsy | Enrichment | BRCA2 | 1.01 |
| 123 | Familial isolated dilated cardiomyopathy | Enrichment | LAMA4 | 0.88 |
| 124 | Primary ovarian insufficiency | Enrichment | CHEK2 | 0.84 |
| 125 | Autism spectrum disorder | Enrichment | MAP2K1 | 0.60 |
| 126 | Retinitis pigmentosa | Enrichment | NEK2 | 0.36 |
| 127 | Hereditary retinal dystrophy | Enrichment | NEK2 | 0.27 |
| 128 | Fundus dystrophy | Enrichment | NEK2 | 0.27 |