| 1 | Inherited cancer-predisposing syndrome | Enrichment | APC, EGFR, MET, MLH1, MSH2, PMS2, PTEN, RB1, SMARCA4, TP53, TSC2 | 7.35 |
| 2 | Gastric cancer | Enrichment | APC, CASP10, MLH1, MSH2, PMS2, PTEN, TP53 | 6.86 |
| 3 | Squamous cell carcinoma, head and neck | Enrichment | EGFR, PTEN, TNFRSF10B, TP53 | 6.59 |
| 4 | Ovarian cancer | Enrichment | APC, EGFR, MET, MSH2, PMS2, PTEN, RB1, TP53, TSC2 | 6.35 |
| 5 | Hepatocellular carcinoma | Enrichment | APC, MET, PMS2, TP53, VDR | 5.80 |
| 6 | Small cell cancer of the lung | Enrichment | RB1, TP53, TP73 | 5.49 |
| 7 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1, MSH2, PMS2 | 5.49 |
| 8 | Lynch syndrome 4 | Enrichment | MSH2, PMS2, RB1 | 5.49 |
| 9 | Breast cancer | Enrichment | APC, JUN, MLH1, MSH2, PMS2, PTEN, TP53 | 5.18 |
| 10 | Bladder cancer | Enrichment | CDKN1A, EGFR, PTEN, RB1, TP53 | 5.16 |
| 11 | Hereditary breast ovarian cancer syndrome | Enrichment | DROSHA, MLH1, MSH2, PMS2, PTEN, TP53 | 4.90 |
| 12 | Rhabdomyosarcoma | Enrichment | MSH2, PMS2, PTEN, TP53 | 4.90 |
| 13 | Colorectal cancer | Enrichment | APC, BAX, MET, MLH1, MSH2, PMS2, TP53 | 4.75 |
| 14 | Endometrial cancer | Enrichment | MLH1, MSH2, PMS2, PTEN | 4.40 |
| 15 | Hereditary breast carcinoma | Enrichment | APC, MLH1, MSH2, PTEN, TP53 | 4.25 |
| 16 | Muir-torre syndrome | Enrichment | MLH1, MSH2 | 4.05 |
| 17 | Intravascular large b-cell lymphoma | Enrichment | BCL2, BCL6 | 4.05 |
| 18 | Lynch syndrome 1 | Enrichment | MLH1, MSH2, PMS2 | 4.03 |
| 19 | Familial colorectal cancer | Enrichment | MLH1, MSH2, TP53 | 4.03 |
| 20 | Lip and oral cavity carcinoma | Enrichment | EGFR, RB1, TP53 | 3.77 |
| 21 | Lung cancer | Enrichment | EGFR, FAS, MET, MLH1 | 3.65 |
| 22 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 3.58 |
| 23 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2, BCL6 | 3.58 |
| 24 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 3.58 |
| 25 | Laryngeal squamous cell carcinoma | Enrichment | PTEN, TNFRSF10B | 3.58 |
| 26 | Bone osteosarcoma | Enrichment | RB1, TP53 | 3.58 |
| 27 | Lung cancer susceptibility 3 | Enrichment | EGFR, RB1, TP53 | 3.56 |
| 28 | Lynch syndrome | Enrichment | MLH1, MSH2, PMS2 | 3.46 |
| 29 | Gliosarcoma | Enrichment | EGFR, MSH2, TP53 | 3.38 |
| 30 | Giant cell glioblastoma | Enrichment | EGFR, MSH2, TP53 | 3.30 |
| 31 | Autoimmune lymphoproliferative syndrome | Enrichment | CASP10, FAS | 3.28 |
| 32 | Diffuse large b-cell lymphoma | Enrichment | PMS2, PTEN, TP53 | 3.15 |
| 33 | Follicular lymphoma | Enrichment | BCL2, BCL6 | 3.06 |
| 34 | Lymphoma | Enrichment | PMS2, TP53 | 3.06 |
| 35 | Acute megakaryocytic leukemia | Enrichment | PTEN, TP53 | 3.06 |
| 36 | Diffuse cutaneous systemic sclerosis | Enrichment | CAV1, IRF5 | 3.06 |
| 37 | Hepatoblastoma | Enrichment | APC, MSH2, TP53 | 3.02 |
| 38 | Li-fraumeni syndrome | Enrichment | MDM2, TP53 | 2.89 |
| 39 | Cowden syndrome 1 | Enrichment | EGFR, PTEN | 2.89 |
| 40 | Limited scleroderma | Enrichment | CAV1, IRF5 | 2.89 |
| 41 | Lymphoma, non-hodgkin, familial | Enrichment | CASP10, TP53 | 2.62 |
| 42 | Adult hepatocellular carcinoma | Enrichment | TP53, TSC2 | 2.52 |
| 43 | Colonic benign neoplasm | Enrichment | APC, MLH1 | 2.52 |
| 44 | Uterine corpus cancer | Enrichment | MSH2, PTEN | 2.34 |
| 45 | Cataract | Enrichment | COL18A1, EPHA2 | 2.13 |
| 46 | Rapp-hodgkin syndrome | Enrichment | TP63 | 2.03 |
| 47 | Ankyloblepharon-ectodermal defects-cleft lip/palate | Enrichment | TP63 | 2.03 |
| 48 | Chiari malformation type i | Enrichment | DKK1 | 2.03 |
| 49 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.03 |
| 50 | Split-hand/foot malformation 4 | Enrichment | TP63 | 2.03 |
| 51 | Ankyloblepharon filiforme adnatum and cleft palate | Enrichment | TP63 | 2.03 |
| 52 | Lipodystrophy, congenital generalized, type 3 | Enrichment | CAV1 | 2.03 |
| 53 | Deafness, autosomal recessive 39 | Enrichment | HGF | 2.03 |
| 54 | Adult syndrome | Enrichment | TP63 | 2.03 |
| 55 | Ceroid lipofuscinosis, neuronal, 10 | Enrichment | CTSD | 2.03 |
| 56 | Accelerated tumor formation | Enrichment | MDM2 | 2.03 |
| 57 | Pulmonary hypertension, primary, 3 | Enrichment | CAV1 | 2.03 |
| 58 | Ciliary dyskinesia, primary, 47, and lissencephaly | Enrichment | TP73 | 2.03 |
| 59 | Alpha-fetoprotein, hereditary persistence of | Enrichment | AFP | 2.03 |
| 60 | Lymphoproliferative syndrome, x-linked, 1 | Enrichment | SH2D1A | 2.03 |
| 61 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.03 |
| 62 | Hyperemesis gravidarum | Enrichment | GDF15 | 2.03 |
| 63 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.03 |
| 64 | Osteofibrous dysplasia | Enrichment | MET | 2.03 |
| 65 | Papilloma of choroid plexus | Enrichment | TP53 | 2.03 |
| 66 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.03 |
| 67 | Lynch syndrome 2 | Enrichment | MLH1 | 2.03 |
| 68 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.03 |
| 69 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.03 |
| 70 | Familial cold autoinflammatory syndrome 4 | Enrichment | NLRC4 | 2.03 |
| 71 | Mitochondrial dna depletion syndrome 8b | Enrichment | RRM2B | 2.03 |
| 72 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | Enrichment | TP63 | 2.03 |
| 73 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.03 |
| 74 | Lipodystrophy, familial partial, type 7 | Enrichment | CAV1 | 2.03 |
| 75 | Limb-mammary syndrome | Enrichment | TP63 | 2.03 |
| 76 | Deafness, autosomal recessive 97 | Enrichment | MET | 2.03 |
| 77 | Autoinflammation with infantile enterocolitis | Enrichment | NLRC4 | 2.03 |
| 78 | Systemic lupus erythematosus 10 | Enrichment | IRF5 | 2.03 |
| 79 | Autoimmune lymphoproliferative syndrome, type iia | Enrichment | CASP10 | 2.03 |
| 80 | Autism 9 | Enrichment | MET | 2.03 |
| 81 | Glutathione peroxidase deficiency | Enrichment | GPX1 | 2.03 |
| 82 | Premature ovarian failure 21 | Enrichment | TP63 | 2.03 |
| 83 | Olmsted syndrome 2 | Enrichment | PERP | 2.03 |
| 84 | Brugada syndrome 7 | Enrichment | SCN3B | 2.03 |
| 85 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.03 |
| 86 | Alpha-fetoprotein deficiency | Enrichment | AFP | 2.03 |
| 87 | Inflammatory bowel disease 14 | Enrichment | IRF5 | 2.03 |
| 88 | Glioma susceptibility 2 | Enrichment | PTEN | 2.03 |
| 89 | Ductal carcinoma in situ | Enrichment | TP53 | 2.03 |
| 90 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 2.03 |
| 91 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 2.03 |
| 92 | Deafness, autosomal dominant 75 | Enrichment | TRRAP | 2.03 |
| 93 | Orofacial cleft 8 | Enrichment | TP63 | 2.03 |
| 94 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 2.03 |
| 95 | Lopes-maciel-rodan syndrome | Enrichment | HTT | 2.03 |
| 96 | Mismatch repair cancer syndrome 4 | Enrichment | PMS2 | 2.03 |
| 97 | Intellectual developmental disorder with hypertelorism and distinctive facies | Enrichment | CCNK | 2.03 |
| 98 | Developmental delay with or without dysmorphic facies and autism | Enrichment | TRRAP | 2.03 |
| 99 | Erythrokeratodermia variabilis et progressiva 7 | Enrichment | PERP | 2.03 |
| 100 | Rectal benign neoplasm | Enrichment | MSH2 | 2.03 |
| 101 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.03 |
| 102 | Trilateral retinoblastoma | Enrichment | RB1 | 2.03 |
| 103 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.03 |
| 104 | Arthrogryposis, distal, type 11 | Enrichment | MET | 2.03 |
| 105 | Rickets | Enrichment | VDR | 2.03 |
| 106 | Pituitary cancer | Enrichment | PMS2 | 2.03 |
| 107 | Ascending colon cancer | Enrichment | MSH2 | 2.03 |
| 108 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.03 |
| 109 | Tp63-related disorders | Enrichment | TP63 | 2.03 |
| 110 | Choroid plexus cancer | Enrichment | TP53 | 2.03 |
| 111 | Ovarian cyst | Enrichment | MSH2 | 2.03 |
| 112 | Familial adenomatous polyposis | Enrichment | APC | 2.03 |
| 113 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.03 |
| 114 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.03 |
| 115 | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | Enrichment | PIDD1 | 2.03 |
| 116 | Juvenile huntington disease | Enrichment | HTT | 2.03 |
| 117 | Gardner syndrome | Enrichment | APC | 2.03 |
| 118 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | Enrichment | FDXR | 2.03 |
| 119 | 5q22 microdeletion syndrome | Enrichment | APC | 2.03 |
| 120 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.03 |
| 121 | Attenuated familial adenomatous polyposis | Enrichment | APC | 2.03 |
| 122 | Rrm2b mitochondrial dna maintenance defects | Enrichment | RRM2B | 2.03 |
| 123 | Periodic fever-infantile enterocolitis-autoinflammatory syndrome | Enrichment | NLRC4 | 2.03 |
| 124 | Lung oat cell carcinoma | Enrichment | RB1 | 2.03 |
| 125 | Arteriovenous malformations of the brain | Enrichment | EGFR, MAP4K4 | 1.87 |
| 126 | Fanconi renotubular syndrome 1 | Enrichment | RRM2B | 1.73 |
| 127 | Burkitt lymphoma | Enrichment | PMS2 | 1.73 |
| 128 | Wagner vitreoretinopathy | Enrichment | VCAN | 1.73 |
| 129 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | Enrichment | TP63 | 1.73 |
| 130 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.73 |
| 131 | Albinism, oculocutaneous, type iii | Enrichment | TYRP1 | 1.73 |
| 132 | Cervical cancer | Enrichment | TP53 | 1.73 |
| 133 | Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction | Enrichment | RRM2B | 1.73 |
| 134 | Xeroderma pigmentosum, complementation group e | Enrichment | DDB2 | 1.73 |
| 135 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 | Enrichment | RRM2B | 1.73 |
| 136 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 1.73 |
| 137 | Piebald trait | Enrichment | SNAI2 | 1.73 |
| 138 | Lymphangioleiomyomatosis | Enrichment | TSC2 | 1.73 |
| 139 | Mitochondrial dna depletion syndrome 8a | Enrichment | RRM2B | 1.73 |
| 140 | Anemia, hypochromic microcytic, with iron overload 2 | Enrichment | STEAP3 | 1.73 |
| 141 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 | Enrichment | RRM2B | 1.73 |
| 142 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.73 |
| 143 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.73 |
| 144 | Skin/hair/eye pigmentation, variation in, 11 | Enrichment | TYRP1 | 1.73 |
| 145 | Charcot-marie-tooth disease, demyelinating, type 4d | Enrichment | NDRG1 | 1.73 |
| 146 | Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | Enrichment | POU4F1 | 1.73 |
| 147 | Childhood hepatocellular carcinoma | Enrichment | MET | 1.73 |
| 148 | Bladder exstrophy | Enrichment | TP63 | 1.73 |
| 149 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 1.73 |
| 150 | Lymphoproliferative syndrome | Enrichment | SH2D1A | 1.73 |
| 151 | Papillary renal cell carcinoma | Enrichment | MET | 1.73 |
| 152 | Pineoblastoma | Enrichment | DROSHA | 1.73 |
| 153 | Congenital fibrosarcoma | Enrichment | TP53 | 1.73 |
| 154 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.73 |
| 155 | Sarcoma | Enrichment | TP53 | 1.73 |
| 156 | Glaucoma, primary closed-angle | Enrichment | COL18A1 | 1.73 |
| 157 | Otosclerosis 12 | Enrichment | SMARCA4 | 1.73 |
| 158 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 1.73 |
| 159 | Periampullary adenoma | Enrichment | APC | 1.73 |
| 160 | Gastric adenocarcinoma and proximal polyposis of the stomach | Enrichment | APC | 1.73 |
| 161 | Cervix carcinoma | Enrichment | TP53 | 1.73 |
| 162 | Hodgkin's lymphoma | Enrichment | TP53 | 1.73 |
| 163 | Fissured tongue | Enrichment | TP63 | 1.73 |
| 164 | Charcot-marie-tooth disease type 4d | Enrichment | NDRG1 | 1.73 |
| 165 | Wagner disease | Enrichment | VCAN | 1.73 |
| 166 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.73 |
| 167 | Primary mediastinal large b-cell lymphoma | Enrichment | BCL6 | 1.73 |
| 168 | Familial retinoblastoma | Enrichment | RB1 | 1.73 |
| 169 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.73 |
| 170 | Xeroderma pigmentosum group e | Enrichment | DDB2 | 1.73 |
| 171 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.73 |
| 172 | Autoinflammatory disease | Enrichment | NLRC4, SH2D1A | 1.67 |
| 173 | Desmoid disease, hereditary | Enrichment | APC | 1.55 |
| 174 | Retinoblastoma | Enrichment | RB1 | 1.55 |
| 175 | Tuberous sclerosis 1 | Enrichment | TSC2 | 1.55 |
| 176 | Polycystic kidney disease, infantile severe, with tuberous sclerosis | Enrichment | TSC2 | 1.55 |
| 177 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP2 | 1.55 |
| 178 | Osteoporosis, juvenile | Enrichment | DKK1 | 1.55 |
| 179 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.55 |
| 180 | Tuberous sclerosis 2 | Enrichment | TSC2 | 1.55 |
| 181 | Cenani-lenz syndactyly syndrome | Enrichment | APC | 1.55 |
| 182 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.55 |
| 183 | Neonatal nephrocutaneous inflammatory syndrome | Enrichment | EGFR | 1.55 |
| 184 | Miller-dieker lissencephaly syndrome | Enrichment | HIC1 | 1.55 |
| 185 | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | Enrichment | POU4F1 | 1.55 |
| 186 | Anus, imperforate | Enrichment | MAP4K4 | 1.55 |
| 187 | Auditory neuropathy and optic atrophy | Enrichment | FDXR | 1.55 |
| 188 | Hypotrichosis 8 | Enrichment | RB1 | 1.55 |
| 189 | Multiple mitochondrial dysfunctions syndrome 9b | Enrichment | FDXR | 1.55 |
| 190 | Desmoid tumor | Enrichment | APC | 1.55 |
| 191 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.55 |
| 192 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | Enrichment | PERP | 1.55 |
| 193 | Hamartoma | Enrichment | TSC2 | 1.55 |
| 194 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.55 |
| 195 | Anaplastic astrocytoma | Enrichment | TP53 | 1.55 |
| 196 | Xanthinuria, type ii | Enrichment | TSC2 | 1.55 |
| 197 | Cellular ependymoma | Enrichment | MSH2 | 1.55 |
| 198 | Tanycytic ependymoma | Enrichment | MSH2 | 1.55 |
| 199 | Papillary ependymoma | Enrichment | MSH2 | 1.55 |
| 200 | T-cell acute lymphoblastic leukemia | Enrichment | BAX | 1.55 |
| 201 | Adenocarcinoma | Enrichment | TP53 | 1.55 |
| 202 | Respiratory failure | Enrichment | TP73 | 1.55 |
| 203 | Idiopathic camptocormia | Enrichment | RRM2B | 1.55 |
| 204 | Colon adenocarcinoma | Enrichment | APC | 1.55 |
| 205 | Neonatal inflammatory skin and bowel disease | Enrichment | EGFR | 1.55 |
| 206 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.55 |
| 207 | Clear cell ependymoma | Enrichment | MSH2 | 1.55 |
| 208 | Renal cell carcinoma | Enrichment | MET | 1.55 |
| 209 | Vogt-koyanagi-harada disease | Enrichment | FAS | 1.55 |
| 210 | Apc-associated polyposis conditions | Enrichment | APC | 1.55 |
| 211 | Prostate cancer | Enrichment | PTEN, TP53 | 1.52 |
| 212 | Huntington disease | Enrichment | HTT | 1.43 |
| 213 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.43 |
| 214 | Focal cortical dysplasia, type ii | Enrichment | TSC2 | 1.43 |
| 215 | Mhc class i deficiency 1 | Enrichment | TAP1 | 1.43 |
| 216 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.43 |
| 217 | Mhc class i deficiency | Enrichment | TAP1 | 1.43 |
| 218 | Tuberous sclerosis | Enrichment | TSC2 | 1.43 |
| 219 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.43 |
| 220 | Craniopharyngioma | Enrichment | APC | 1.43 |
| 221 | Knobloch syndrome | Enrichment | COL18A1 | 1.43 |
| 222 | Immunodeficiency by defective expression of mhc class i | Enrichment | TAP1 | 1.43 |
| 223 | Pediatric systemic lupus erythematosus | Enrichment | SPP1 | 1.43 |
| 224 | Isolated focal cortical dysplasia type ii | Enrichment | TSC2 | 1.43 |
| 225 | Glioma | Enrichment | PTEN | 1.43 |
| 226 | Benign ependymoma | Enrichment | MSH2 | 1.43 |
| 227 | Cleft lip and alveolus | Enrichment | TP63 | 1.43 |
| 228 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.43 |
| 229 | Cataract 6, multiple types | Enrichment | EPHA2 | 1.33 |
| 230 | Albinism, oculocutaneous, type ii | Enrichment | TYRP1 | 1.33 |
| 231 | Kearns-sayre syndrome | Enrichment | RRM2B | 1.33 |
| 232 | Vitamin d-dependent rickets, type 2a | Enrichment | VDR | 1.33 |
| 233 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.33 |
| 234 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.33 |
| 235 | Knobloch syndrome 1 | Enrichment | COL18A1 | 1.33 |
| 236 | Breast-ovarian cancer, familial 2 | Enrichment | PMS2 | 1.33 |
| 237 | Familial adenomatous polyposis 1 | Enrichment | APC | 1.33 |
| 238 | Glioblastoma | Enrichment | MSH2 | 1.33 |
| 239 | Hemangioma | Enrichment | PTEN | 1.33 |
| 240 | Cleft upper lip | Enrichment | TP63 | 1.33 |
| 241 | Hemimegalencephaly | Enrichment | PTEN | 1.33 |
| 242 | Aniridia | Enrichment | EPHA2 | 1.33 |
| 243 | Systemic lupus erythematosus | Enrichment | IRF5, SPP1 | 1.28 |
| 244 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 | Enrichment | RRM2B | 1.26 |
| 245 | Albinism, ocular, type i | Enrichment | TYRP1 | 1.26 |
| 246 | Adrenocortical carcinoma | Enrichment | TP53 | 1.26 |
| 247 | Breast adenocarcinoma | Enrichment | TP53 | 1.26 |
| 248 | Lung squamous cell carcinoma | Enrichment | EGFR | 1.26 |
| 249 | Albinism | Enrichment | TYRP1 | 1.26 |
| 250 | Esophageal cancer | Enrichment | TP53 | 1.19 |
| 251 | Polycystic kidney disease 1 with or without polycystic liver disease | Enrichment | TSC2 | 1.19 |
| 252 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A | 1.19 |
| 253 | Thyroid cancer, nonmedullary, 2 | Enrichment | PTEN | 1.19 |
| 254 | Waardenburg syndrome, type 2e | Enrichment | SNAI2 | 1.19 |
| 255 | Renal cell carcinoma, papillary, 1 | Enrichment | MET | 1.19 |
| 256 | Oculocutaneous albinism | Enrichment | TYRP1 | 1.19 |
| 257 | Polycystic kidney disease 1 | Enrichment | TSC2 | 1.19 |
| 258 | Essential thrombocythemia | Enrichment | TP53 | 1.19 |
| 259 | Gallbladder cancer | Enrichment | TP53 | 1.19 |
| 260 | Follicular thyroid carcinoma | Enrichment | PTEN | 1.19 |
| 261 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | TP53 | 1.19 |
| 262 | Arthrogryposis, distal, type 1a | Enrichment | MET | 1.14 |
| 263 | Glioma susceptibility 1 | Enrichment | TP53 | 1.14 |
| 264 | Renal hypodysplasia/aplasia 1 | Enrichment | MAP4K4 | 1.14 |
| 265 | Neuroblastoma | Enrichment | SMARCA4 | 1.14 |
| 266 | Isolated split hand-split foot malformation | Enrichment | TP63 | 1.14 |
| 267 | Early-onset posterior polar cataract | Enrichment | EPHA2 | 1.14 |
| 268 | Sensorineural hearing loss | Enrichment | HGF, RRM2B | 1.12 |
| 269 | Rheumatoid arthritis | Enrichment | IRF5 | 1.09 |
| 270 | Primary hyperaldosteronism | Enrichment | TP53 | 1.09 |
| 271 | Ventricular septal defect | Enrichment | SMARCA4 | 1.09 |
| 272 | Primary biliary cholangitis | Enrichment | IRF5 | 1.09 |
| 273 | Cowden syndrome | Enrichment | PTEN | 1.09 |
| 274 | Mitochondrial neurogastrointestinal encephalomyopathy | Enrichment | RRM2B | 1.09 |
| 275 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.04 |
| 276 | Stickler syndrome | Enrichment | VCAN | 1.04 |
| 277 | Melanoma | Enrichment | PTEN | 1.04 |
| 278 | Xeroderma pigmentosum, variant type | Enrichment | DDB2 | 1.00 |
| 279 | Meningioma, familial | Enrichment | PTEN | 1.00 |
| 280 | Myelodysplastic syndrome | Enrichment | TP53 | 1.00 |
| 281 | Cardiomyopathy, familial hypertrophic, 9 | Enrichment | PMS2 | 1.00 |
| 282 | Atrial heart septal defect | Enrichment | SMARCA4 | 1.00 |
| 283 | Lung non-small cell carcinoma | Enrichment | EGFR | 1.00 |
| 284 | Heritable pulmonary arterial hypertension | Enrichment | CAV1 | 1.00 |
| 285 | Interatrial communication | Enrichment | SMARCA4 | 1.00 |
| 286 | Primary ovarian insufficiency | Enrichment | AFP, TP63 | 0.97 |
| 287 | Meningioma | Enrichment | PTEN | 0.97 |
| 288 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 0.94 |
| 289 | Breast-ovarian cancer, familial 1 | Enrichment | MSH2 | 0.94 |
| 290 | Pulmonary disease, chronic obstructive | Enrichment | VDR | 0.94 |
| 291 | Acute promyelocytic leukemia | Enrichment | PML | 0.94 |
| 292 | Premature menopause | Enrichment | TP63 | 0.94 |
| 293 | Medulloblastoma | Enrichment | APC | 0.91 |
| 294 | Cleft lip/palate | Enrichment | TP63 | 0.91 |
| 295 | Coffin-siris syndrome 1 | Enrichment | SMARCA4 | 0.88 |
| 296 | Renal cell carcinoma, nonpapillary | Enrichment | MET | 0.88 |
| 297 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 0.88 |
| 298 | Neuronal ceroid lipofuscinosis | Enrichment | CTSD | 0.88 |
| 299 | Autosomal dominant polycystic kidney disease | Enrichment | TSC2 | 0.88 |
| 300 | Male infertility with spermatogenesis disorder | Enrichment | TP63 | 0.88 |
| 301 | Cleft palate, isolated | Enrichment | SMARCA4 | 0.83 |
| 302 | Cataract 44 | Enrichment | EPHA2 | 0.83 |
| 303 | Charcot-marie-tooth disease type 4 | Enrichment | NDRG1 | 0.80 |
| 304 | Early-onset nuclear cataract | Enrichment | EPHA2 | 0.80 |
| 305 | Behcet syndrome | Enrichment | FAS | 0.78 |
| 306 | Cardiomyopathy, dilated, 1g | Enrichment | PMS2 | 0.72 |
| 307 | Tooth agenesis | Enrichment | TGFA | 0.72 |
| 308 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.71 |
| 309 | Familial atrial fibrillation | Enrichment | SCN3B | 0.69 |
| 310 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | HGF, MET | 0.69 |
| 311 | Pancreatic cancer | Enrichment | TP53 | 0.68 |
| 312 | Brugada syndrome | Enrichment | SCN3B | 0.66 |
| 313 | Auditory neuropathy | Enrichment | FDXR | 0.66 |
| 314 | Severe covid-19 | Enrichment | CASP10 | 0.62 |
| 315 | Stargardt disease 1 | Enrichment | COL18A1 | 0.61 |
| 316 | Congenital nervous system abnormality | Enrichment | PTEN, TSC2 | 0.58 |
| 317 | Nervous system disease | Enrichment | PTEN, TSC2 | 0.58 |
| 318 | Autism spectrum disorder | Enrichment | PTEN, TSC2 | 0.56 |
| 319 | Diamond-blackfan anemia | Enrichment | TP53 | 0.54 |
| 320 | Cerebral palsy | Enrichment | SMARCA4 | 0.51 |
| 321 | Leukemia, acute myeloid | Enrichment | TP53 | 0.50 |
| 322 | Charcot-marie-tooth disease | Enrichment | NDRG1 | 0.49 |
| 323 | West syndrome | Enrichment | TSC2 | 0.47 |
| 324 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | TRRAP | 0.41 |
| 325 | Myeloma, multiple | Enrichment | TP53 | 0.38 |
| 326 | Mitochondrial disease | Enrichment | RRM2B | 0.25 |
| 327 | Retinitis pigmentosa | Enrichment | COL18A1, RRM2B | 0.22 |
| 328 | Complex neurodevelopmental disorder | Enrichment | HTT | 0.16 |
| 329 | Hereditary retinal dystrophy | Enrichment | COL18A1, VCAN | 0.12 |
| 330 | Fundus dystrophy | Enrichment | COL18A1, VCAN | 0.12 |