| 1 | Inherited cancer-predisposing syndrome | Enrichment | CDK4, CDKN1B, CDKN2A, MET, MITF, RB1, SMARCA4, SMARCB1 | 7.21 |
| 2 | Lip and oral cavity carcinoma | Enrichment | ABL1, CDKN2A, RB1 | 4.85 |
| 3 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4, SMARCB1 | 4.78 |
| 4 | Papillary renal cell carcinoma | Enrichment | MET, MITF | 4.78 |
| 5 | Melanoma, cutaneous malignant 1 | Enrichment | CDK4, CDKN2A, MITF | 4.36 |
| 6 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.30 |
| 7 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 4.30 |
| 8 | Ovarian cancer | Enrichment | CDKN1B, CDKN2A, MET, RB1, SMARCB1 | 4.23 |
| 9 | Bladder cancer | Enrichment | CDKN1A, CDKN2A, RB1 | 3.65 |
| 10 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2 | 3.60 |
| 11 | Waardenburg syndrome | Enrichment | MITF, PAX3 | 3.60 |
| 12 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 3.46 |
| 13 | Waardenburg syndrome, type 1 | Enrichment | MITF, PAX3 | 3.46 |
| 14 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | ABL1, CDKN2A | 3.46 |
| 15 | Melanoma | Enrichment | CDKN2A, MITF | 3.13 |
| 16 | Coffin-siris syndrome 1 | Enrichment | SMARCA4, SMARCB1 | 2.77 |
| 17 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | ABL1, CDKN2A | 2.40 |
| 18 | Craniofacial-deafness-hand syndrome | Enrichment | PAX3 | 2.38 |
| 19 | Waardenburg syndrome, type 3 | Enrichment | PAX3 | 2.38 |
| 20 | Intellectual developmental disorder, x-linked, syndromic 33 | Enrichment | TAF1 | 2.38 |
| 21 | Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities | Enrichment | GSC | 2.38 |
| 22 | Dystonia 3, torsion, x-linked | Enrichment | TAF1 | 2.38 |
| 23 | Noonan syndrome 5 | Enrichment | RAF1 | 2.38 |
| 24 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 2.38 |
| 25 | Heterochromia iridis | Enrichment | MITF | 2.38 |
| 26 | Tietz albinism-deafness syndrome | Enrichment | MITF | 2.38 |
| 27 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.38 |
| 28 | Accelerated tumor formation | Enrichment | MDM2 | 2.38 |
| 29 | Agammaglobulinemia 10, autosomal dominant | Enrichment | SPI1 | 2.38 |
| 30 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.38 |
| 31 | Osteofibrous dysplasia | Enrichment | MET | 2.38 |
| 32 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | Enrichment | MEF2C | 2.38 |
| 33 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | Enrichment | MITF | 2.38 |
| 34 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.38 |
| 35 | Camurati-engelmann disease 2 | Enrichment | TGFB2 | 2.38 |
| 36 | Rhabdoid tumor predisposition syndrome 1 | Enrichment | SMARCB1 | 2.38 |
| 37 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.38 |
| 38 | Autism 9 | Enrichment | MET | 2.38 |
| 39 | Leopard syndrome 2 | Enrichment | RAF1 | 2.38 |
| 40 | Congenital myopathy 17 | Enrichment | MYOD1 | 2.38 |
| 41 | Neurilemmoma | Enrichment | SMARCB1 | 2.38 |
| 42 | Coffin-siris syndrome 3 | Enrichment | SMARCB1 | 2.38 |
| 43 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.38 |
| 44 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.38 |
| 45 | Congenital myopathy 14 | Enrichment | MYL1 | 2.38 |
| 46 | Trigonitis | Enrichment | RAF1 | 2.38 |
| 47 | Trilateral retinoblastoma | Enrichment | RB1 | 2.38 |
| 48 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.38 |
| 49 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.38 |
| 50 | Pparg-associated congenital generalized lipodystrophy | Enrichment | PPARG | 2.38 |
| 51 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | Enrichment | TAF1 | 2.38 |
| 52 | 5q14.3 microdeletion syndrome | Enrichment | MEF2C | 2.38 |
| 53 | Agammaglobulinemia | Enrichment | SPI1 | 2.38 |
| 54 | Complete atrioventricular septal defect without ventricular hypoplasia | Enrichment | MEF2C | 2.38 |
| 55 | Mef2c-related disorder | Enrichment | MEF2C | 2.38 |
| 56 | Lung oat cell carcinoma | Enrichment | RB1 | 2.38 |
| 57 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 2.08 |
| 58 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Enrichment | RUNX2 | 2.08 |
| 59 | Carotid intimal medial thickness 1 | Enrichment | PPARG | 2.08 |
| 60 | Spinocerebellar ataxia 17 | Enrichment | TBP | 2.08 |
| 61 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 2.08 |
| 62 | Schwannomatosis 1 | Enrichment | SMARCB1 | 2.08 |
| 63 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 2.08 |
| 64 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 2.08 |
| 65 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 2.08 |
| 66 | Congenital heart defects and skeletal malformations syndrome | Enrichment | ABL1 | 2.08 |
| 67 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Enrichment | CTBP1 | 2.08 |
| 68 | Melanoma, cutaneous malignant 8 | Enrichment | MITF | 2.08 |
| 69 | Childhood hepatocellular carcinoma | Enrichment | MET | 2.08 |
| 70 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | Enrichment | DNMT1 | 2.08 |
| 71 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 2.08 |
| 72 | Loeys-dietz syndrome 4 | Enrichment | TGFB2 | 2.08 |
| 73 | Otosclerosis 12 | Enrichment | SMARCA4 | 2.08 |
| 74 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 2.08 |
| 75 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 2.08 |
| 76 | Familial partial lipodystrophy | Enrichment | PPARG | 2.08 |
| 77 | Familial retinoblastoma | Enrichment | RB1 | 2.08 |
| 78 | Cleidocranial dysplasia 1 | Enrichment | RUNX2 | 1.91 |
| 79 | Retinoblastoma | Enrichment | RB1 | 1.91 |
| 80 | Waardenburg syndrome, type 2a | Enrichment | MITF | 1.91 |
| 81 | Osteogenic sarcoma | Enrichment | RB1 | 1.91 |
| 82 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.91 |
| 83 | Neuropathy, hereditary sensory, type ie | Enrichment | DNMT1 | 1.91 |
| 84 | Hypotrichosis 8 | Enrichment | RB1 | 1.91 |
| 85 | Atypical teratoid rhabdoid tumor | Enrichment | SMARCB1 | 1.91 |
| 86 | Cleidocranial dysplasia | Enrichment | RUNX2 | 1.91 |
| 87 | Squamous cell carcinoma | Enrichment | RB1 | 1.91 |
| 88 | T-cell acute lymphoblastic leukemia | Enrichment | ABL1 | 1.91 |
| 89 | Bone osteosarcoma | Enrichment | RB1 | 1.91 |
| 90 | Neurodegeneration, childhood-onset, with brain atrophy | Enrichment | UBTF | 1.91 |
| 91 | Schwannomatosis | Enrichment | SMARCB1 | 1.91 |
| 92 | Renal cell carcinoma | Enrichment | MET | 1.91 |
| 93 | Gastric cancer | Enrichment | CDK4, CDKN2A | 1.87 |
| 94 | Small cell cancer of the lung | Enrichment | RB1 | 1.78 |
| 95 | Lipodystrophy, familial partial, type 3 | Enrichment | PPARG | 1.78 |
| 96 | Leptin deficiency or dysfunction | Enrichment | PPARG | 1.78 |
| 97 | Lynch syndrome 4 | Enrichment | RB1 | 1.78 |
| 98 | Congenital generalized lipodystrophy | Enrichment | PPARG | 1.78 |
| 99 | Chronic myelogenous leukemia, bcr-abl1 positive | Enrichment | ABL1 | 1.78 |
| 100 | Noonan syndrome with multiple lentigines | Enrichment | RAF1 | 1.78 |
| 101 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.78 |
| 102 | Full schwannomatosis | Enrichment | SMARCB1 | 1.78 |
| 103 | Clear cell papillary renal cell carcinoma | Enrichment | MITF | 1.78 |
| 104 | Rhabdomyosarcoma 2 | Enrichment | PAX3 | 1.69 |
| 105 | Rare syndromic intellectual disability | Enrichment | UBTF | 1.69 |
| 106 | Atrial septal defect 1 | Enrichment | TGFB2 | 1.61 |
| 107 | Myopathy, centronuclear, 1 | Enrichment | MYOD1 | 1.61 |
| 108 | Wolf-hirschhorn syndrome | Enrichment | CTBP1 | 1.61 |
| 109 | Waardenburg syndrome, type 4a | Enrichment | MITF | 1.61 |
| 110 | Adrenocortical carcinoma | Enrichment | CDKN2A | 1.61 |
| 111 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.61 |
| 112 | Waardenburg syndrome, type 2e | Enrichment | MITF | 1.54 |
| 113 | Leukemia, chronic myeloid | Enrichment | ABL1 | 1.54 |
| 114 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.54 |
| 115 | Noonan syndrome 3 | Enrichment | RAF1 | 1.54 |
| 116 | Hereditary sensory and autonomic neuropathy type 1 | Enrichment | DNMT1 | 1.54 |
| 117 | Pilomyxoid astrocytoma | Enrichment | RAF1 | 1.54 |
| 118 | Moyamoya angiopathy | Enrichment | ABL1 | 1.54 |
| 119 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.49 |
| 120 | Melanocytic nevus syndrome, congenital | Enrichment | RAF1 | 1.49 |
| 121 | Neuroblastoma | Enrichment | SMARCA4 | 1.49 |
| 122 | Loeys-dietz syndrome | Enrichment | TGFB2 | 1.44 |
| 123 | Ventricular septal defect | Enrichment | SMARCA4 | 1.44 |
| 124 | Marfan syndrome | Enrichment | TGFB2 | 1.39 |
| 125 | Autosomal non-syndromic agammaglobulinemia | Enrichment | SPI1 | 1.39 |
| 126 | Rare genetic deafness | Enrichment | MITF, PAX3 | 1.38 |
| 127 | Meningioma, familial | Enrichment | SMARCB1 | 1.35 |
| 128 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.35 |
| 129 | Atrial heart septal defect | Enrichment | SMARCA4 | 1.35 |
| 130 | Interatrial communication | Enrichment | SMARCA4 | 1.35 |
| 131 | Meningioma | Enrichment | SMARCB1 | 1.31 |
| 132 | Colorectal cancer | Enrichment | MET, PPARG | 1.30 |
| 133 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 1.28 |
| 134 | Nk-cell enteropathy | Enrichment | SMARCB1 | 1.28 |
| 135 | Lung cancer susceptibility 3 | Enrichment | RB1 | 1.25 |
| 136 | Heart disease | Enrichment | ABL1 | 1.25 |
| 137 | Pituitary stalk interruption syndrome | Enrichment | DNMT1 | 1.25 |
| 138 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 1.22 |
| 139 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 1.22 |
| 140 | Noonan syndrome and noonan-related syndrome | Enrichment | RAF1 | 1.22 |
| 141 | Gliosarcoma | Enrichment | PPARG | 1.19 |
| 142 | Cleft palate, isolated | Enrichment | SMARCA4 | 1.17 |
| 143 | Giant cell glioblastoma | Enrichment | PPARG | 1.17 |
| 144 | Autism spectrum disorder | Enrichment | MEF2C, SMARCB1 | 1.13 |
| 145 | Ehlers-danlos syndrome | Enrichment | TGFB2 | 1.12 |
| 146 | Parkinson's disease | Enrichment | TBP | 1.12 |
| 147 | Hepatocellular carcinoma | Enrichment | MET | 1.06 |
| 148 | Noonan syndrome 1 | Enrichment | RAF1 | 1.04 |
| 149 | Ear malformation | Enrichment | MITF | 1.02 |
| 150 | Parkinson disease, late-onset | Enrichment | TBP | 1.02 |
| 151 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 1.02 |
| 152 | Pancreatic cancer | Enrichment | CDKN2A | 1.01 |
| 153 | Rasopathy | Enrichment | RAF1 | 0.99 |
| 154 | Differentiated thyroid carcinoma | Enrichment | PPARG | 0.95 |
| 155 | Lung cancer | Enrichment | MET | 0.91 |
| 156 | Familial hypertrophic cardiomyopathy | Enrichment | RAF1 | 0.89 |
| 157 | Left ventricular noncompaction | Enrichment | RAF1 | 0.87 |
| 158 | Non-syndromic genetic deafness | Enrichment | MITF | 0.86 |
| 159 | Fetal akinesia deformation sequence 1 | Enrichment | MYOD1 | 0.85 |
| 160 | Cerebral palsy | Enrichment | SMARCA4 | 0.83 |
| 161 | Type 2 diabetes mellitus | Enrichment | PPARG | 0.80 |
| 162 | Distal arthrogryposis | Enrichment | MYOD1 | 0.80 |
| 163 | Nonsyndromic hearing loss | Enrichment | MITF | 0.80 |
| 164 | Nephrotic syndrome | Enrichment | RUNX2 | 0.79 |
| 165 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | TGFB2 | 0.78 |
| 166 | Body mass index quantitative trait locus 11 | Enrichment | PPARG | 0.73 |
| 167 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MITF | 0.71 |
| 168 | Spastic ataxia | Enrichment | DNMT1 | 0.71 |
| 169 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.71 |
| 170 | Hereditary breast ovarian cancer syndrome | Enrichment | MITF | 0.69 |
| 171 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | MEF2C | 0.67 |
| 172 | Breast cancer | Enrichment | JUN | 0.57 |
| 173 | Dilated cardiomyopathy | Enrichment | RAF1 | 0.55 |
| 174 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | MET | 0.51 |
| 175 | Microcephaly | Enrichment | ABL1 | 0.40 |
| 176 | Complex neurodevelopmental disorder | Enrichment | PPP2CA | 0.40 |