| 1 | Lung cancer susceptibility 3 | Enrichment | KRAS, PRKN, TP53 | 6.01 |
| 2 | Lung sarcomatoid carcinoma | Enrichment | KRAS, TP53 | 4.91 |
| 3 | Lung cancer | Enrichment | KRAS, NFE2L2, PRKN | 4.88 |
| 4 | Li-fraumeni syndrome | Enrichment | MDM2, TP53 | 4.51 |
| 5 | Breast adenocarcinoma | Enrichment | KRAS, TP53 | 4.51 |
| 6 | Renal cell carcinoma with mit translocations | Enrichment | TFE3, TFEB | 4.36 |
| 7 | Gallbladder cancer | Enrichment | KRAS, TP53 | 4.36 |
| 8 | Hereditary breast ovarian cancer syndrome | Enrichment | KRAS, MITF, TP53 | 4.16 |
| 9 | Early-onset parkinson's disease | Enrichment | PINK1, PRKN | 3.87 |
| 10 | Noonan syndrome and noonan-related syndrome | Enrichment | KRAS, SHOC2 | 3.67 |
| 11 | Diffuse large b-cell lymphoma | Enrichment | STAT3, TP53 | 3.46 |
| 12 | Ovarian cancer | Enrichment | KRAS, PRKN, TP53 | 3.38 |
| 13 | Noonan syndrome 1 | Enrichment | KRAS, SHOC2 | 3.29 |
| 14 | Pancreatic cancer | Enrichment | KRAS, TP53 | 3.22 |
| 15 | Rasopathy | Enrichment | KRAS, SHOC2 | 3.18 |
| 16 | Bladder cancer | Enrichment | KRAS, TP53 | 3.09 |
| 17 | Paget disease of bone 3 | Enrichment | SQSTM1 | 2.83 |
| 18 | Oculoectodermal syndrome | Enrichment | KRAS | 2.83 |
| 19 | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Enrichment | HMGB1 | 2.83 |
| 20 | Heterochromia iridis | Enrichment | MITF | 2.83 |
| 21 | Tietz albinism-deafness syndrome | Enrichment | MITF | 2.83 |
| 22 | Leprosy 2 | Enrichment | PRKN | 2.83 |
| 23 | Accelerated tumor formation | Enrichment | MDM2 | 2.83 |
| 24 | Myopathy, distal, with rimmed vacuoles | Enrichment | SQSTM1 | 2.83 |
| 25 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Enrichment | SQSTM1 | 2.83 |
| 26 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.83 |
| 27 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.83 |
| 28 | Renal cell carcinoma, xp11-associated | Enrichment | TFE3 | 2.83 |
| 29 | Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies | Enrichment | TFE3 | 2.83 |
| 30 | Immunodeficiency, developmental delay, and hypohomocysteinemia | Enrichment | NFE2L2 | 2.83 |
| 31 | Papilloma of choroid plexus | Enrichment | TP53 | 2.83 |
| 32 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.83 |
| 33 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.83 |
| 34 | T-cell large granular lymphocyte leukemia | Enrichment | STAT3 | 2.83 |
| 35 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | Enrichment | MITF | 2.83 |
| 36 | Cardiofaciocutaneous syndrome 2 | Enrichment | KRAS | 2.83 |
| 37 | Noonan syndrome-like disorder with loose anagen hair 1 | Enrichment | SHOC2 | 2.83 |
| 38 | Ductal carcinoma in situ | Enrichment | TP53 | 2.83 |
| 39 | Autoimmune disease, multisystem, infantile-onset, 1 | Enrichment | STAT3 | 2.83 |
| 40 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.83 |
| 41 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.83 |
| 42 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.83 |
| 43 | Stat3-related early-onset multisystem autoimmune disease | Enrichment | STAT3 | 2.83 |
| 44 | Congenital pulmonary airway malformation | Enrichment | KRAS | 2.83 |
| 45 | Choroid plexus cancer | Enrichment | TP53 | 2.83 |
| 46 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.83 |
| 47 | Chronic lymphoproliferative disorder of natural killer cells | Enrichment | STAT3 | 2.83 |
| 48 | Leukemia, acute myeloid | Enrichment | KRAS, TP53 | 2.81 |
| 49 | Gastric cancer | Enrichment | KRAS, TP53 | 2.75 |
| 50 | Hereditary breast carcinoma | Enrichment | KRAS, TP53 | 2.73 |
| 51 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 2.53 |
| 52 | Cervical cancer | Enrichment | TP53 | 2.53 |
| 53 | Parkinson disease 12 | Enrichment | PRKN | 2.53 |
| 54 | Alveolar soft part sarcoma | Enrichment | TFE3 | 2.53 |
| 55 | Welander distal myopathy | Enrichment | SQSTM1 | 2.53 |
| 56 | Duane-radial ray syndrome | Enrichment | IPO8 | 2.53 |
| 57 | Encephalocraniocutaneous lipomatosis | Enrichment | KRAS | 2.53 |
| 58 | Ras-associated autoimmune leukoproliferative disorder | Enrichment | KRAS | 2.53 |
| 59 | Fatty liver disease 1 | Enrichment | ATG7 | 2.53 |
| 60 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 2.53 |
| 61 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 2.53 |
| 62 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Enrichment | SQSTM1 | 2.53 |
| 63 | Melanoma, cutaneous malignant 8 | Enrichment | MITF | 2.53 |
| 64 | Noonan syndrome-like disorder with loose anagen hair | Enrichment | SHOC2 | 2.53 |
| 65 | Spinocerebellar ataxia, autosomal recessive 31 | Enrichment | ATG7 | 2.53 |
| 66 | Papillary renal cell carcinoma | Enrichment | MITF | 2.53 |
| 67 | Congenital fibrosarcoma | Enrichment | TP53 | 2.53 |
| 68 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 2.53 |
| 69 | Sarcoma | Enrichment | TP53 | 2.53 |
| 70 | Cervix carcinoma | Enrichment | TP53 | 2.53 |
| 71 | Hodgkin's lymphoma | Enrichment | TP53 | 2.53 |
| 72 | Paget's disease of bone | Enrichment | SQSTM1 | 2.53 |
| 73 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 2.53 |
| 74 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 2.53 |
| 75 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | SQSTM1 | 2.53 |
| 76 | Myeloma, multiple | Enrichment | KRAS, TP53 | 2.52 |
| 77 | Hyper-ige syndrome 1, autosomal dominant, with recurrent infections | Enrichment | STAT3 | 2.35 |
| 78 | Waardenburg syndrome, type 2a | Enrichment | MITF | 2.35 |
| 79 | Osteogenic sarcoma | Enrichment | TP53 | 2.35 |
| 80 | Nasopharyngeal carcinoma | Enrichment | TP53 | 2.35 |
| 81 | Viss syndrome | Enrichment | IPO8 | 2.35 |
| 82 | Breast implant-associated anaplastic large cell lymphoma | Enrichment | STAT3 | 2.35 |
| 83 | Hyper ige syndrome | Enrichment | STAT3 | 2.35 |
| 84 | Polycystic kidney disease 4 | Enrichment | SHOC2 | 2.35 |
| 85 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 2.35 |
| 86 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 2.35 |
| 87 | Anaplastic astrocytoma | Enrichment | TP53 | 2.35 |
| 88 | Squamous cell carcinoma | Enrichment | TP53 | 2.35 |
| 89 | Adenocarcinoma | Enrichment | TP53 | 2.35 |
| 90 | Bone osteosarcoma | Enrichment | TP53 | 2.35 |
| 91 | Well-differentiated liposarcoma | Enrichment | MDM2 | 2.35 |
| 92 | Renal cell carcinoma | Enrichment | TFE3 | 2.35 |
| 93 | Breast cancer | Enrichment | KRAS, TP53 | 2.27 |
| 94 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | KRAS | 2.23 |
| 95 | Cardiofaciocutaneous syndrome 1 | Enrichment | KRAS | 2.23 |
| 96 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | KRAS | 2.23 |
| 97 | Small cell cancer of the lung | Enrichment | TP53 | 2.23 |
| 98 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 2.23 |
| 99 | Paget disease of bone 2, early-onset | Enrichment | SQSTM1 | 2.23 |
| 100 | Cardiofaciocutaneous syndrome | Enrichment | KRAS | 2.23 |
| 101 | Malignant epithelioid hemangioendothelioma | Enrichment | TFE3 | 2.23 |
| 102 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | KRAS | 2.23 |
| 103 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 2.23 |
| 104 | Pilocytic astrocytoma | Enrichment | KRAS | 2.23 |
| 105 | Paget's disease of bone 2 | Enrichment | SQSTM1 | 2.23 |
| 106 | Complex hereditary spastic paraplegia | Enrichment | PRKN | 2.23 |
| 107 | Clear cell papillary renal cell carcinoma | Enrichment | MITF | 2.23 |
| 108 | Colorectal cancer | Enrichment | NFE2L2, TP53 | 2.14 |
| 109 | Polycystic kidney disease 3 with or without polycystic liver disease | Enrichment | SHOC2 | 2.13 |
| 110 | Parkinson disease 2, autosomal recessive juvenile | Enrichment | PRKN | 2.13 |
| 111 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 2.13 |
| 112 | Lymphoma | Enrichment | TP53 | 2.13 |
| 113 | Parkin type of early-onset parkinson disease | Enrichment | PRKN | 2.13 |
| 114 | Acute megakaryocytic leukemia | Enrichment | TP53 | 2.13 |
| 115 | Waardenburg syndrome, type 4a | Enrichment | MITF | 2.05 |
| 116 | Parkinson disease 6, autosomal recessive early-onset | Enrichment | PINK1 | 2.05 |
| 117 | Adrenocortical carcinoma | Enrichment | TP53 | 2.05 |
| 118 | Lung squamous cell carcinoma | Enrichment | KRAS | 2.05 |
| 119 | Waardenburg syndrome | Enrichment | MITF | 2.05 |
| 120 | Esophageal cancer | Enrichment | TP53 | 1.99 |
| 121 | Nevus, epidermal | Enrichment | KRAS | 1.99 |
| 122 | Waardenburg syndrome, type 1 | Enrichment | MITF | 1.99 |
| 123 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 1.99 |
| 124 | Waardenburg syndrome, type 2e | Enrichment | MITF | 1.99 |
| 125 | Capillary malformation-arteriovenous malformation 1 | Enrichment | KRAS | 1.99 |
| 126 | Leukemia, chronic myeloid | Enrichment | KRAS | 1.99 |
| 127 | Noonan syndrome 3 | Enrichment | KRAS | 1.99 |
| 128 | Essential thrombocythemia | Enrichment | TP53 | 1.99 |
| 129 | Pilomyxoid astrocytoma | Enrichment | KRAS | 1.99 |
| 130 | Common variable immunodeficiency | Enrichment | NFKB1 | 1.99 |
| 131 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.99 |
| 132 | Glioma susceptibility 1 | Enrichment | TP53 | 1.93 |
| 133 | Polycystic kidney disease 4 with or without polycystic liver disease | Enrichment | SHOC2 | 1.93 |
| 134 | Lymphoma, non-hodgkin, familial | Enrichment | TP53 | 1.93 |
| 135 | Permanent neonatal diabetes mellitus | Enrichment | STAT3 | 1.93 |
| 136 | Loeys-dietz syndrome | Enrichment | IPO8 | 1.88 |
| 137 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.88 |
| 138 | Primary hyperaldosteronism | Enrichment | TP53 | 1.88 |
| 139 | Behavioral variant of frontotemporal dementia | Enrichment | SQSTM1 | 1.88 |
| 140 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.83 |
| 141 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | SQSTM1 | 1.83 |
| 142 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.83 |
| 143 | Melanoma | Enrichment | MITF | 1.83 |
| 144 | Familial colorectal cancer | Enrichment | TP53 | 1.83 |
| 145 | Inherited cancer-predisposing syndrome | Enrichment | MITF, TP53 | 1.80 |
| 146 | Pectus excavatum | Enrichment | SHOC2 | 1.79 |
| 147 | Myelodysplastic syndrome | Enrichment | TP53 | 1.79 |
| 148 | Lung non-small cell carcinoma | Enrichment | KRAS | 1.79 |
| 149 | Juvenile myelomonocytic leukemia | Enrichment | KRAS | 1.76 |
| 150 | Lip and oral cavity carcinoma | Enrichment | TP53 | 1.76 |
| 151 | Acute promyelocytic leukemia | Enrichment | STAT3 | 1.72 |
| 152 | Lynch syndrome | Enrichment | KRAS | 1.66 |
| 153 | Rhabdomyosarcoma | Enrichment | TP53 | 1.63 |
| 154 | Gliosarcoma | Enrichment | TP53 | 1.63 |
| 155 | Melanoma, cutaneous malignant 1 | Enrichment | MITF | 1.61 |
| 156 | Giant cell glioblastoma | Enrichment | TP53 | 1.61 |
| 157 | Arteriovenous malformations of the brain | Enrichment | KRAS | 1.56 |
| 158 | Parkinson's disease | Enrichment | PRKN | 1.56 |
| 159 | Hepatoblastoma | Enrichment | TP53 | 1.52 |
| 160 | Hepatocellular carcinoma | Enrichment | TP53 | 1.50 |
| 161 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 1.48 |
| 162 | Ear malformation | Enrichment | MITF | 1.46 |
| 163 | Parkinson disease, late-onset | Enrichment | PRKN | 1.46 |
| 164 | Prostate cancer | Enrichment | TP53 | 1.38 |
| 165 | Differentiated thyroid carcinoma | Enrichment | KRAS | 1.38 |
| 166 | Non-immune hydrops fetalis | Enrichment | KRAS | 1.35 |
| 167 | Diamond-blackfan anemia | Enrichment | TP53 | 1.29 |
| 168 | Non-syndromic genetic deafness | Enrichment | MITF | 1.29 |
| 169 | Nonsyndromic hearing loss | Enrichment | MITF | 1.22 |
| 170 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MITF | 1.13 |
| 171 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | SQSTM1 | 1.09 |
| 172 | Schizophrenia | Enrichment | PRKN | 1.08 |
| 173 | Autism | Enrichment | PRKN | 1.00 |
| 174 | Rare genetic deafness | Enrichment | MITF | 0.96 |
| 175 | Autism spectrum disorder | Enrichment | PRKN | 0.83 |