| 1 | Lip and oral cavity carcinoma | Enrichment | BRAF, CDKN2A, HRAS, RB1, TP53 | 7.72 |
| 2 | Bladder cancer | Enrichment | CDKN1A, CDKN2A, HRAS, PTEN, RB1, TP53 | 7.12 |
| 3 | Gastric cancer | Enrichment | CDKN2A, IL1B, IRF1, PTEN, SMAD4, TP53 | 6.05 |
| 4 | Lung non-small cell carcinoma | Enrichment | BRAF, HRAS, IRF1, MAP2K1 | 5.97 |
| 5 | Noonan syndrome and noonan-related syndrome | Enrichment | BRAF, HRAS, MAP2K1, RAF1 | 5.36 |
| 6 | Acute megakaryocytic leukemia | Enrichment | KMT2A, PTEN, TP53 | 5.35 |
| 7 | Li-fraumeni syndrome | Enrichment | CDKN2A, MDM2, TP53 | 5.05 |
| 8 | Thyroid cancer, nonmedullary, 2 | Enrichment | BRAF, HRAS, PTEN | 4.81 |
| 9 | Squamous cell carcinoma, head and neck | Enrichment | ING1, PTEN, TP53 | 4.81 |
| 10 | Gallbladder cancer | Enrichment | BRAF, SMAD4, TP53 | 4.81 |
| 11 | Follicular thyroid carcinoma | Enrichment | BRAF, HRAS, PTEN | 4.81 |
| 12 | Melanocytic nevus syndrome, congenital | Enrichment | BRAF, HRAS, RAF1 | 4.61 |
| 13 | Noonan syndrome 1 | Enrichment | BRAF, HRAS, MAP2K1, RAF1 | 4.57 |
| 14 | Rasopathy | Enrichment | BRAF, HRAS, MAP2K1, RAF1 | 4.35 |
| 15 | Melanoma | Enrichment | BRAF, CDKN2A, PTEN | 4.28 |
| 16 | Ovarian cancer | Enrichment | CDKN1B, CDKN2A, PTEN, RB1, RNASEL, TP53 | 3.89 |
| 17 | Lung cancer susceptibility 3 | Enrichment | BRAF, RB1, TP53 | 3.81 |
| 18 | Langerhans cell histiocytosis | Enrichment | BRAF, MAP2K1 | 3.75 |
| 19 | Osteogenic sarcoma | Enrichment | RB1, TP53 | 3.75 |
| 20 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 3.75 |
| 21 | Laryngeal squamous cell carcinoma | Enrichment | ING1, PTEN | 3.75 |
| 22 | Bone osteosarcoma | Enrichment | RB1, TP53 | 3.75 |
| 23 | Rhabdomyosarcoma | Enrichment | HRAS, PTEN, TP53 | 3.63 |
| 24 | Cardiofaciocutaneous syndrome 1 | Enrichment | BRAF, MAP2K1 | 3.45 |
| 25 | Small cell cancer of the lung | Enrichment | RB1, TP53 | 3.45 |
| 26 | Thyroid cancer, nonmedullary, 1 | Enrichment | BRAF, TP53 | 3.45 |
| 27 | Cardiofaciocutaneous syndrome | Enrichment | BRAF, MAP2K1 | 3.45 |
| 28 | Noonan syndrome with multiple lentigines | Enrichment | BRAF, RAF1 | 3.45 |
| 29 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | COL1A1, COL3A1, SMAD3, SMAD4 | 3.44 |
| 30 | Diffuse large b-cell lymphoma | Enrichment | BRAF, PTEN, TP53 | 3.40 |
| 31 | Ehlers-danlos syndrome | Enrichment | COL1A1, COL3A1, SMAD3 | 3.40 |
| 32 | Inherited cancer-predisposing syndrome | Enrichment | CDKN1B, CDKN2A, PTEN, RB1, SMAD4, TP53 | 3.26 |
| 33 | Insulin-like growth factor i | Enrichment | IGF1, IGF1R | 3.23 |
| 34 | Hemimegalencephaly | Enrichment | MTOR, PTEN | 3.23 |
| 35 | Type 1 diabetes mellitus | Enrichment | IL6, INS | 3.06 |
| 36 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 3.06 |
| 37 | Breast adenocarcinoma | Enrichment | RB1CC1, TP53 | 3.06 |
| 38 | Pancreatic cancer | Enrichment | CDKN2A, SMAD4, TP53 | 3.04 |
| 39 | Multiple endocrine neoplasia, type i | Enrichment | CDKN1A, CDKN1B | 2.92 |
| 40 | Noonan syndrome 3 | Enrichment | HRAS, RAF1 | 2.92 |
| 41 | Pilomyxoid astrocytoma | Enrichment | BRAF, RAF1 | 2.92 |
| 42 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 2.92 |
| 43 | Prostate cancer | Enrichment | PTEN, RNASEL, TP53 | 2.85 |
| 44 | Lymphoma, non-hodgkin, familial | Enrichment | BRAF, TP53 | 2.79 |
| 45 | Arteriovenous malformation | Enrichment | HRAS, MAP2K1 | 2.69 |
| 46 | Primary hyperaldosteronism | Enrichment | BRAF, TP53 | 2.69 |
| 47 | Primary biliary cholangitis | Enrichment | IRF5, TNFSF15 | 2.69 |
| 48 | Familial thoracic aortic aneurysm and dissection | Enrichment | COL3A1, SMAD3 | 2.69 |
| 49 | Myopathy, x-linked, with excessive autophagy | Enrichment | HRAS, MAP2K1 | 2.59 |
| 50 | Breast cancer | Enrichment | JUN, PTEN, RB1CC1, TP53 | 2.57 |
| 51 | Osteogenesis imperfecta, type iv | Enrichment | COL1A1, SPARC | 2.36 |
| 52 | Colorectal cancer | Enrichment | BRAF, SMAD4, SRC, TP53 | 2.34 |
| 53 | Hereditary breast carcinoma | Enrichment | PTEN, RB1CC1, TP53 | 2.32 |
| 54 | Osteoporosis | Enrichment | COL1A1, SRC | 2.29 |
| 55 | Aortic aneurysm, familial thoracic 1 | Enrichment | COL3A1, SMAD3 | 2.29 |
| 56 | Rare genetic intellectual disability | Enrichment | KMT2A, MTOR | 2.23 |
| 57 | Melanoma, cutaneous malignant 1 | Enrichment | BRAF, CDKN2A | 2.13 |
| 58 | Paget disease of bone 3 | Enrichment | SQSTM1 | 2.11 |
| 59 | Acrodermatitis enteropathica, zinc-deficiency type | Enrichment | SLC39A4 | 2.11 |
| 60 | Vacterl association with hydrocephalus | Enrichment | PTEN | 2.11 |
| 61 | Noonan syndrome 5 | Enrichment | RAF1 | 2.11 |
| 62 | Prostate cancer, hereditary, 1 | Enrichment | RNASEL | 2.11 |
| 63 | Melorheostosis, isolated | Enrichment | MAP2K1 | 2.11 |
| 64 | Noonan syndrome 7 | Enrichment | BRAF | 2.11 |
| 65 | Leopard syndrome 3 | Enrichment | BRAF | 2.11 |
| 66 | Amyloidosis, finnish type | Enrichment | GSN | 2.11 |
| 67 | Cardiomyopathy, dilated, 1nn | Enrichment | RAF1 | 2.11 |
| 68 | Immunodeficiency 39 viral infections | Enrichment | IRF7 | 2.11 |
| 69 | Cardiofaciocutaneous syndrome 3 | Enrichment | MAP2K1 | 2.11 |
| 70 | Accelerated tumor formation | Enrichment | MDM2 | 2.11 |
| 71 | Acrogeria, gottron type | Enrichment | COL3A1 | 2.11 |
| 72 | Immunodeficiency 69 | Enrichment | IFNG | 2.11 |
| 73 | Myopathy, distal, with rimmed vacuoles | Enrichment | SQSTM1 | 2.11 |
| 74 | Stuve-wiedemann syndrome 2 | Enrichment | IL6ST | 2.11 |
| 75 | Noonan syndrome 13 | Enrichment | MAPK1 | 2.11 |
| 76 | Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections | Enrichment | IL6ST | 2.11 |
| 77 | Spinocerebellar ataxia, autosomal recessive 25 | Enrichment | ATG5 | 2.11 |
| 78 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Enrichment | SQSTM1 | 2.11 |
| 79 | Lessel-kubisch syndrome | Enrichment | MDM2 | 2.11 |
| 80 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 2.11 |
| 81 | Winchester syndrome | Enrichment | MMP14 | 2.11 |
| 82 | Acrodermatitis enteropathica | Enrichment | SLC39A4 | 2.11 |
| 83 | Papilloma of choroid plexus | Enrichment | TP53 | 2.11 |
| 84 | Basal cell carcinoma 7 | Enrichment | TP53 | 2.11 |
| 85 | Danon disease | Enrichment | LAMP2 | 2.11 |
| 86 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 2.11 |
| 87 | Plasminogen activator inhibitor-1 deficiency | Enrichment | SERPINE1 | 2.11 |
| 88 | Immunodeficiency 39 | Enrichment | IRF7 | 2.11 |
| 89 | Papillary tumor of the pineal region | Enrichment | PTEN | 2.11 |
| 90 | Ovary adenocarcinoma | Enrichment | INHBA | 2.11 |
| 91 | Lymphangioma | Enrichment | BRAF | 2.11 |
| 92 | Systemic lupus erythematosus 10 | Enrichment | IRF5 | 2.11 |
| 93 | Phace association | Enrichment | BRAF | 2.11 |
| 94 | Melorheostosis | Enrichment | MAP2K1 | 2.11 |
| 95 | Neuroendocrine tumor | Enrichment | CDKN1B | 2.11 |
| 96 | Inflammatory bowel disease 10 | Enrichment | ATG16L1 | 2.11 |
| 97 | Leopard syndrome 2 | Enrichment | RAF1 | 2.11 |
| 98 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Enrichment | IGFBP7 | 2.11 |
| 99 | Interleukin 6, serum level of, quantitative trait locus | Enrichment | IL6R | 2.11 |
| 100 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Enrichment | IL6R | 2.11 |
| 101 | Hyper-ige syndrome 5, autosomal recessive, with recurrent infections | Enrichment | IL6R | 2.11 |
| 102 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 2.11 |
| 103 | Inflammatory bowel disease 14 | Enrichment | IRF5 | 2.11 |
| 104 | Glioma susceptibility 2 | Enrichment | PTEN | 2.11 |
| 105 | Ductal carcinoma in situ | Enrichment | TP53 | 2.11 |
| 106 | 20p12.3 microdeletion syndrome | Enrichment | BMP2 | 2.11 |
| 107 | Thrombocytopenia 6 | Enrichment | SRC | 2.11 |
| 108 | Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections | Enrichment | IL6ST | 2.11 |
| 109 | Immunodeficiency 94 with autoinflammation and dysmorphic facies | Enrichment | IL6ST | 2.11 |
| 110 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Enrichment | BMP2 | 2.11 |
| 111 | Trigonitis | Enrichment | RAF1 | 2.11 |
| 112 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 2.11 |
| 113 | Asphyxia neonatorum | Enrichment | COL1A1 | 2.11 |
| 114 | Trilateral retinoblastoma | Enrichment | RB1 | 2.11 |
| 115 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 2.11 |
| 116 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 2.11 |
| 117 | Heritable thoracic aortic disease | Enrichment | SMAD4 | 2.11 |
| 118 | Acute myeloid leukemia with mll rearrangement | Enrichment | KMT2A | 2.11 |
| 119 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 2.11 |
| 120 | Choroid plexus cancer | Enrichment | TP53 | 2.11 |
| 121 | Syringocystadenoma papilliferum | Enrichment | BRAF | 2.11 |
| 122 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 2.11 |
| 123 | Ganglioglioma | Enrichment | BRAF | 2.11 |
| 124 | Abdominal aortic aneurysm | Enrichment | COL3A1 | 2.11 |
| 125 | Congenital plasminogen activator inhibitor type 1 deficiency | Enrichment | SERPINE1 | 2.11 |
| 126 | Nongerminomatous germ cell tumor | Enrichment | BRAF | 2.11 |
| 127 | Phace syndrome | Enrichment | BRAF | 2.11 |
| 128 | Lethal hydranencephaly-diaphragmatic hernia syndrome | Enrichment | PLAT | 2.11 |
| 129 | Phakomatosis pigmentokeratotica | Enrichment | HRAS | 2.11 |
| 130 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Enrichment | PTEN | 2.11 |
| 131 | Classic hairy cell leukemia | Enrichment | BRAF | 2.11 |
| 132 | Lung oat cell carcinoma | Enrichment | RB1 | 2.11 |
| 133 | Human immunodeficiency virus type 1 | Enrichment | CCL3, IFNG | 2.08 |
| 134 | Arteriovenous malformations of the brain | Enrichment | BRAF, IL6 | 2.03 |
| 135 | Ehlers-danlos syndrome, vascular type | Enrichment | COL3A1 | 1.81 |
| 136 | Epiphyseal dysplasia, multiple, 1 | Enrichment | COL1A1 | 1.81 |
| 137 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.81 |
| 138 | Ehlers-danlos syndrome, hypermobility type | Enrichment | COL3A1 | 1.81 |
| 139 | Metaphyseal chondrodysplasia, schmid type | Enrichment | COL10A1 | 1.81 |
| 140 | Myhre syndrome | Enrichment | SMAD4 | 1.81 |
| 141 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.81 |
| 142 | Camurati-engelmann disease 1 | Enrichment | TGFB1 | 1.81 |
| 143 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | FN1 | 1.81 |
| 144 | Costello syndrome | Enrichment | HRAS | 1.81 |
| 145 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | FN1 | 1.81 |
| 146 | Quebec platelet disorder | Enrichment | PLAU | 1.81 |
| 147 | Dermatofibrosarcoma protuberans | Enrichment | COL1A1 | 1.81 |
| 148 | Cervical cancer | Enrichment | TP53 | 1.81 |
| 149 | Pulmonic stenosis | Enrichment | BRAF | 1.81 |
| 150 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Enrichment | SMAD4 | 1.81 |
| 151 | Welander distal myopathy | Enrichment | SQSTM1 | 1.81 |
| 152 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.81 |
| 153 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.81 |
| 154 | Fatty liver disease 1 | Enrichment | ATG7 | 1.81 |
| 155 | Maturity-onset diabetes of the young, type 10 | Enrichment | INS | 1.81 |
| 156 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.81 |
| 157 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.81 |
| 158 | Loeys-dietz syndrome 3 | Enrichment | SMAD3 | 1.81 |
| 159 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Enrichment | SQSTM1 | 1.81 |
| 160 | Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 | Enrichment | COL1A1 | 1.81 |
| 161 | Hyperproinsulinemia | Enrichment | INS | 1.81 |
| 162 | Ehlers-danlos syndrome, arthrochalasia type, 2 | Enrichment | COL1A1 | 1.81 |
| 163 | Cebalid syndrome | Enrichment | MTOR | 1.81 |
| 164 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | Enrichment | COL3A1 | 1.81 |
| 165 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Enrichment | TGFB1 | 1.81 |
| 166 | Intravascular large b-cell lymphoma | Enrichment | BCL2 | 1.81 |
| 167 | Aortic dissection | Enrichment | COL3A1 | 1.81 |
| 168 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.81 |
| 169 | Spinocerebellar ataxia, autosomal recessive 31 | Enrichment | ATG7 | 1.81 |
| 170 | Osteogenesis imperfecta, type xvii | Enrichment | SPARC | 1.81 |
| 171 | Camurati-engelmann disease | Enrichment | TGFB1 | 1.81 |
| 172 | Congenital fibrosarcoma | Enrichment | TP53 | 1.81 |
| 173 | Stickler syndrome, type ii | Enrichment | COL1A1 | 1.81 |
| 174 | Li-fraumeni syndrome 1 | Enrichment | TP53 | 1.81 |
| 175 | Sarcoma | Enrichment | TP53 | 1.81 |
| 176 | Diabetes mellitus, permanent neonatal, 4 | Enrichment | INS | 1.81 |
| 177 | Cervix carcinoma | Enrichment | TP53 | 1.81 |
| 178 | Hodgkin's lymphoma | Enrichment | TP53 | 1.81 |
| 179 | Paget's disease of bone | Enrichment | SQSTM1 | 1.81 |
| 180 | Smith-kingsmore syndrome | Enrichment | MTOR | 1.81 |
| 181 | Craniosynostosis 7 | Enrichment | BMP2 | 1.81 |
| 182 | Ehlers-danlos/osteogenesis imperfecta syndrome | Enrichment | COL1A1 | 1.81 |
| 183 | Vacterl with hydrocephalus | Enrichment | PTEN | 1.81 |
| 184 | Growth delay due to insulin-like growth factor type 1 deficiency | Enrichment | IGF1 | 1.81 |
| 185 | Immunodeficiency 117 | Enrichment | IRF1 | 1.81 |
| 186 | Acute myeloid leukemia with t(9;11)(p22;q23) | Enrichment | KMT2A | 1.81 |
| 187 | Familial retinoblastoma | Enrichment | RB1 | 1.81 |
| 188 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Enrichment | KMT2A | 1.81 |
| 189 | B-lymphoblastic leukemia/lymphoma with t | Enrichment | KMT2A | 1.81 |
| 190 | Juvenile polyposis of infancy | Enrichment | PTEN | 1.81 |
| 191 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.81 |
| 192 | Wooly hair nevus | Enrichment | HRAS | 1.81 |
| 193 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | SQSTM1 | 1.81 |
| 194 | Differentiated thyroid carcinoma | Enrichment | BRAF, HRAS | 1.68 |
| 195 | Type 1 diabetes mellitus 2 | Enrichment | INS | 1.64 |
| 196 | Retinoblastoma | Enrichment | RB1 | 1.64 |
| 197 | Ataxia-telangiectasia | Enrichment | BRAF | 1.64 |
| 198 | Juvenile polyposis syndrome | Enrichment | SMAD4 | 1.64 |
| 199 | Tuberous sclerosis 1 | Enrichment | IFNG | 1.64 |
| 200 | Stuve-wiedemann syndrome 1 | Enrichment | IL6ST | 1.64 |
| 201 | Glomerulopathy with fibronectin deposits 2 | Enrichment | FN1 | 1.64 |
| 202 | Multicentric osteolysis, nodulosis, and arthropathy | Enrichment | MMP14 | 1.64 |
| 203 | Transposition of the great arteries, dextro-looped | Enrichment | BMP2 | 1.64 |
| 204 | Hepatitis c virus | Enrichment | IFNG | 1.64 |
| 205 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.64 |
| 206 | Caffey disease | Enrichment | COL1A1 | 1.64 |
| 207 | Tuberous sclerosis 2 | Enrichment | IFNG | 1.64 |
| 208 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.64 |
| 209 | Hypotrichosis 8 | Enrichment | RB1 | 1.64 |
| 210 | Tethered spinal cord syndrome | Enrichment | BRAF | 1.64 |
| 211 | Large congenital melanocytic nevus | Enrichment | HRAS | 1.64 |
| 212 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | BCL2 | 1.64 |
| 213 | Dedifferentiated liposarcoma | Enrichment | MDM2 | 1.64 |
| 214 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.64 |
| 215 | Anaplastic astrocytoma | Enrichment | TP53 | 1.64 |
| 216 | Adenocarcinoma | Enrichment | TP53 | 1.64 |
| 217 | Spermatocytoma | Enrichment | HRAS | 1.64 |
| 218 | Growth delay due to insulin-like growth factor i resistance | Enrichment | IGF1R | 1.64 |
| 219 | High bone mass osteogenesis imperfecta | Enrichment | COL1A1 | 1.64 |
| 220 | Well-differentiated liposarcoma | Enrichment | MDM2 | 1.64 |
| 221 | Mixed phenotype acute leukemia with t | Enrichment | KMT2A | 1.64 |
| 222 | Stüve-wiedemann syndrome | Enrichment | IL6ST | 1.64 |
| 223 | Dilated cardiomyopathy | Enrichment | BRAF, LAMP2, RAF1 | 1.62 |
| 224 | Lung cancer | Enrichment | BRAF, IRF1 | 1.60 |
| 225 | Familial hypertrophic cardiomyopathy | Enrichment | LAMP2, RAF1 | 1.57 |
| 226 | Left ventricular noncompaction | Enrichment | LAMP2, RAF1 | 1.52 |
| 227 | Kaposi sarcoma | Enrichment | IL6 | 1.51 |
| 228 | Ehlers-danlos syndrome, arthrochalasia type, 1 | Enrichment | COL1A1 | 1.51 |
| 229 | Brachydactyly, type a2 | Enrichment | BMP2 | 1.51 |
| 230 | Schimmelpenning-feuerstein-mims syndrome | Enrichment | HRAS | 1.51 |
| 231 | Phenylketonuria | Enrichment | COL1A1 | 1.51 |
| 232 | Paget disease of bone 2, early-onset | Enrichment | SQSTM1 | 1.51 |
| 233 | Chromosome 22q11.2 deletion syndrome, distal | Enrichment | MAPK1 | 1.51 |
| 234 | Focal cortical dysplasia, type ii | Enrichment | MTOR | 1.51 |
| 235 | Lynch syndrome 4 | Enrichment | RB1 | 1.51 |
| 236 | Neonatal diabetes mellitus | Enrichment | INS | 1.51 |
| 237 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.51 |
| 238 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.51 |
| 239 | Aortic aneurysm | Enrichment | SMAD3 | 1.51 |
| 240 | Craniopharyngioma | Enrichment | BRAF | 1.51 |
| 241 | Newborn respiratory distress syndrome | Enrichment | BRAF | 1.51 |
| 242 | Epidermolytic nevus | Enrichment | HRAS | 1.51 |
| 243 | Paget's disease of bone 2 | Enrichment | SQSTM1 | 1.51 |
| 244 | Osteogenesis imperfecta with normal sclerae, dominant form | Enrichment | COL1A1 | 1.51 |
| 245 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.51 |
| 246 | Systemic-onset juvenile idiopathic arthritis | Enrichment | IL6 | 1.51 |
| 247 | Isolated focal cortical dysplasia type ii | Enrichment | MTOR | 1.51 |
| 248 | Glioma | Enrichment | PTEN | 1.51 |
| 249 | Pseudomyogenic hemangioendothelioma | Enrichment | SERPINE1 | 1.51 |
| 250 | Alzheimer disease 2 | Enrichment | PLAU | 1.42 |
| 251 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 1.42 |
| 252 | Macrocephaly/autism syndrome | Enrichment | PTEN | 1.42 |
| 253 | Rheumatoid arthritis, systemic juvenile | Enrichment | IL6 | 1.42 |
| 254 | Ventricular septal defect 1 | Enrichment | BMP2 | 1.42 |
| 255 | Follicular lymphoma | Enrichment | BCL2 | 1.42 |
| 256 | Lymphoma | Enrichment | TP53 | 1.42 |
| 257 | Hemangioma | Enrichment | PTEN | 1.42 |
| 258 | Diffuse cutaneous systemic sclerosis | Enrichment | IRF5 | 1.42 |
| 259 | Generalized juvenile polyposis/juvenile polyposis coli | Enrichment | SMAD4 | 1.42 |
| 260 | Idiopathic aplastic anemia | Enrichment | IFNG | 1.42 |
| 261 | Familial cerebral saccular aneurysm | Enrichment | COL3A1 | 1.42 |
| 262 | Leukemia, acute myeloid | Enrichment | KMT2A, TP53 | 1.42 |
| 263 | Type 2 diabetes mellitus | Enrichment | HMGA1, IL6 | 1.38 |
| 264 | Atrial septal defect 1 | Enrichment | BMP2 | 1.34 |
| 265 | Ehlers-danlos syndrome, classic type, 1 | Enrichment | COL1A1 | 1.34 |
| 266 | Osteogenesis imperfecta, type i | Enrichment | COL1A1 | 1.34 |
| 267 | Kabuki syndrome 1 | Enrichment | KMT2A | 1.34 |
| 268 | Cowden syndrome 1 | Enrichment | PTEN | 1.34 |
| 269 | Wilms tumor 5 | Enrichment | BRAF | 1.34 |
| 270 | Wiedemann-steiner syndrome | Enrichment | KMT2A | 1.34 |
| 271 | Inflammatory bowel disease 25, autosomal recessive | Enrichment | TGFB1 | 1.34 |
| 272 | Keratoconus | Enrichment | COL1A1 | 1.34 |
| 273 | Limited scleroderma | Enrichment | IRF5 | 1.34 |
| 274 | Il10-related early-onset inflammatory bowel disease | Enrichment | TGFB1 | 1.34 |
| 275 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 1.34 |
| 276 | Classic ehlers-danlos syndrome | Enrichment | COL1A1 | 1.34 |
| 277 | Autism spectrum disorder | Enrichment | KMT2A, MAP2K1, PTEN | 1.28 |
| 278 | Esophageal cancer | Enrichment | TP53 | 1.28 |
| 279 | Nevus, epidermal | Enrichment | HRAS | 1.28 |
| 280 | Osteogenesis imperfecta, type ii | Enrichment | COL1A1 | 1.28 |
| 281 | Myelofibrosis | Enrichment | SRC | 1.28 |
| 282 | Capillary malformation-arteriovenous malformation 1 | Enrichment | MAP2K1 | 1.28 |
| 283 | Renal cell carcinoma, papillary, 1 | Enrichment | MTOR | 1.28 |
| 284 | Essential thrombocythemia | Enrichment | TP53 | 1.28 |
| 285 | Hereditary hemorrhagic telangiectasia | Enrichment | SMAD4 | 1.28 |
| 286 | Overgrowth syndrome | Enrichment | MTOR | 1.28 |
| 287 | Thrombocytopenia | Enrichment | SMAD4, SRC | 1.27 |
| 288 | Glioma susceptibility 1 | Enrichment | TP53 | 1.22 |
| 289 | Spastic paraplegia 4, autosomal dominant | Enrichment | COL3A1 | 1.22 |
| 290 | Hemochromatosis, type 1 | Enrichment | BMP2 | 1.22 |
| 291 | Permanent neonatal diabetes mellitus | Enrichment | INS | 1.22 |
| 292 | Cornelia de lange syndrome 1 | Enrichment | KMT2A | 1.17 |
| 293 | Cardiomyopathy, familial hypertrophic, 4 | Enrichment | BRAF | 1.17 |
| 294 | Rheumatoid arthritis | Enrichment | IRF5 | 1.17 |
| 295 | Inflammatory bowel disease 1 | Enrichment | IL6 | 1.17 |
| 296 | Loeys-dietz syndrome | Enrichment | SMAD3 | 1.17 |
| 297 | Adult hepatocellular carcinoma | Enrichment | TP53 | 1.17 |
| 298 | Ventricular septal defect | Enrichment | BRAF | 1.17 |
| 299 | Cornelia de lange syndrome | Enrichment | KMT2A | 1.17 |
| 300 | Cowden syndrome | Enrichment | PTEN | 1.17 |
| 301 | Behavioral variant of frontotemporal dementia | Enrichment | SQSTM1 | 1.17 |
| 302 | Hereditary breast ovarian cancer syndrome | Enrichment | PTEN, TP53 | 1.17 |
| 303 | Myeloma, multiple | Enrichment | BRAF, TP53 | 1.16 |
| 304 | Microcephaly | Enrichment | IGF1R, KMT2A, MAPK1 | 1.15 |
| 305 | Leukemia, chronic lymphocytic | Enrichment | TP53 | 1.13 |
| 306 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | SQSTM1 | 1.13 |
| 307 | Aplastic anemia | Enrichment | IFNG | 1.13 |
| 308 | Familial colorectal cancer | Enrichment | TP53 | 1.13 |
| 309 | Primary bone dysplasia | Enrichment | COL1A1 | 1.13 |
| 310 | Meningioma, familial | Enrichment | PTEN | 1.09 |
| 311 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A | 1.09 |
| 312 | Myelodysplastic syndrome | Enrichment | TP53 | 1.09 |
| 313 | Osteochondrodysplasia | Enrichment | COL1A1 | 1.09 |
| 314 | Diabetes mellitus | Enrichment | INS | 1.09 |
| 315 | Uterine corpus cancer | Enrichment | PTEN | 1.09 |
| 316 | Specific learning disability | Enrichment | MAPK1 | 1.09 |
| 317 | Meningioma | Enrichment | PTEN | 1.05 |
| 318 | Nk-cell enteropathy | Enrichment | IGF1R | 1.02 |
| 319 | Renal cell carcinoma, nonpapillary | Enrichment | MTOR | 0.96 |
| 320 | Wilms tumor 1 | Enrichment | BRAF | 0.96 |
| 321 | Osteogenesis imperfecta, type iii | Enrichment | COL1A1 | 0.96 |
| 322 | Gliosarcoma | Enrichment | TP53 | 0.93 |
| 323 | Alzheimer disease, familial, 1 | Enrichment | PLAU | 0.91 |
| 324 | Dandy-walker syndrome | Enrichment | BRAF | 0.91 |
| 325 | Giant cell glioblastoma | Enrichment | TP53 | 0.91 |
| 326 | Heart, malformation of | Enrichment | MAPK1 | 0.88 |
| 327 | Maturity-onset diabetes of the young | Enrichment | INS | 0.84 |
| 328 | Endometrial cancer | Enrichment | PTEN | 0.82 |
| 329 | Hepatoblastoma | Enrichment | TP53 | 0.82 |
| 330 | Hepatocellular carcinoma | Enrichment | TP53 | 0.80 |
| 331 | Multisystem inflammatory syndrome in children | Enrichment | IFNB1 | 0.80 |
| 332 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.79 |
| 333 | Brittle bone disorder | Enrichment | COL1A1 | 0.79 |
| 334 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A | 0.79 |
| 335 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | RAF1 | 0.77 |
| 336 | Hydrops fetalis, nonimmune | Enrichment | HRAS | 0.74 |
| 337 | Non-immune hydrops fetalis | Enrichment | HRAS | 0.67 |
| 338 | Cystic fibrosis | Enrichment | TGFB1 | 0.66 |
| 339 | Connective tissue disease | Enrichment | SMAD3 | 0.66 |
| 340 | Diamond-blackfan anemia | Enrichment | TP53 | 0.61 |
| 341 | Systemic lupus erythematosus | Enrichment | IRF5 | 0.58 |
| 342 | Nephrotic syndrome | Enrichment | FN1 | 0.55 |
| 343 | Hypertrophic cardiomyopathy | Enrichment | LAMP2 | 0.55 |
| 344 | Hypertelorism | Enrichment | COL1A1 | 0.48 |
| 345 | Familial isolated dilated cardiomyopathy | Enrichment | RAF1 | 0.47 |
| 346 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | SQSTM1 | 0.44 |
| 347 | Primary ovarian insufficiency | Enrichment | THBS1 | 0.43 |
| 348 | Congenital nervous system abnormality | Enrichment | PTEN | 0.25 |
| 349 | Nervous system disease | Enrichment | PTEN | 0.25 |