| 1 | Ovarian cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, BRIP1, BUB1B, CDKN1B, CDKN2A, CHEK2, ERCC2, ERCC3, ERCC4, FANCA, FANCD2, MRE11, MSH2, MSH6, MUTYH, NBN, PPM1D, RAD50, RB1, RECQL4, TP53, WRN, XPA, XPC | 11.26 |
| 2 | Hereditary breast carcinoma | Enrichment | ATM, BLM, BRCA1, BRCA2, BRIP1, CDC73, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, PPM1D, RAD50, RAD51, RAD54L, TP53 | 11.11 |
| 3 | Breast cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, BRIP1, CDC73, CHEK2, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PHB1, PPM1D, RAD50, RAD51, RAD54L, TP53 | 11.09 |
| 4 | Gastric cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, TP53 | 10.80 |
| 5 | Hereditary breast ovarian cancer syndrome | Enrichment | ATM, BLM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PLK2, RAD50, RAD51, RECQL, TP53, VRK1 | 10.79 |
| 6 | Inherited cancer-predisposing syndrome | Enrichment | ATM, BLM, BRCA1, BRCA2, BRIP1, CDC73, CDK4, CDKN1B, CDKN2A, CHEK2, ERCC3, FANCA, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, RAD50, RB1, RECQL, RECQL4, SMARCA4, TP53 | 10.71 |
| 7 | Pancreatic cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CDKN2A, CHEK2, ERCC4, NBN, RBBP8, TP53 | 10.29 |
| 8 | Endometrial cancer | Enrichment | ATM, BLM, BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH6, MUTYH | 9.62 |
| 9 | Meier-gorlin syndrome 1 | Enrichment | CDC45, CDC6, CDT1, GMNN, MCM7, ORC1, ORC6 | 9.59 |
| 10 | Colorectal cancer | Enrichment | ATM, AURKA, BLM, BRCA1, BRCA2, BRIP1, BUB1B, CCND1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PTPN12, TP53 | 9.25 |
| 11 | Xeroderma pigmentosum, variant type | Enrichment | DDB2, ERCC2, ERCC3, ERCC4, POLH, XPA, XPC | 9.17 |
| 12 | Uterine corpus cancer | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, MSH6 | 9.17 |
| 13 | Breast-ovarian cancer, familial 1 | Enrichment | ATM, BRCA1, BRCA2, BRIP1, CHEK2, MSH2, NBN | 8.47 |
| 14 | Fanconi anemia, complementation group a | Enrichment | BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCD2, RAD51, UBE2T | 7.37 |
| 15 | Bladder cancer | Enrichment | ATM, BRCA1, BRCA2, CDKN1A, CDKN2A, ERCC2, RB1, TP53 | 6.87 |
| 16 | Myeloma, multiple | Enrichment | ATM, AURKA, BRCA2, CCND1, CDKN2C, H3C1, LATS1, LIG4, RECQL4, TP53 | 6.51 |
| 17 | Colonic benign neoplasm | Enrichment | ATM, CHEK2, MLH1, MRE11, MUTYH | 6.25 |
| 18 | Histiocytoid hemangioma | Enrichment | FOS, FOSB, LMNA, VIM | 5.96 |
| 19 | Lynch syndrome 1 | Enrichment | ATM, CHEK2, MLH1, MSH2, MSH6 | 5.96 |
| 20 | Prostate cancer | Enrichment | ATM, BRCA1, BRCA2, CHEK2, MSH6, NBN, TP53 | 5.64 |
| 21 | Li-fraumeni syndrome | Enrichment | CDKN2A, CHEK2, MDM2, TP53 | 5.49 |
| 22 | Hepatoblastoma | Enrichment | BRCA2, ERCC2, FANCA, MSH2, RECQL4, TP53 | 5.37 |
| 23 | Multiple endocrine neoplasia, type i | Enrichment | CDC73, CDKN1A, CDKN1B, CDKN2C | 5.13 |
| 24 | Seckel syndrome | Enrichment | ATR, ATRIP, CENPE, PRIM1, RBBP8 | 5.09 |
| 25 | Osteogenic sarcoma | Enrichment | CHEK2, RB1, TP53 | 4.99 |
| 26 | Bone osteosarcoma | Enrichment | CHEK2, RB1, TP53 | 4.99 |
| 27 | Rhabdomyosarcoma | Enrichment | BRCA1, BRCA2, MSH2, MSH6, TP53 | 4.77 |
| 28 | Gliosarcoma | Enrichment | ATM, MGMT, MSH2, TACC3, TP53 | 4.77 |
| 29 | Melanoma, cutaneous malignant 1 | Enrichment | ACD, CDK4, CDKN2A, MGMT, TERF2IP | 4.62 |
| 30 | Giant cell glioblastoma | Enrichment | ATM, MGMT, MSH2, TACC3, TP53 | 4.62 |
| 31 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | Enrichment | APTX, MRE11, PNKP | 4.39 |
| 32 | Small cell cancer of the lung | Enrichment | RB1, TP53, TP73 | 4.39 |
| 33 | Mismatch repair cancer syndrome 1 | Enrichment | MLH1, MSH2, MSH6 | 4.39 |
| 34 | Lynch syndrome 4 | Enrichment | MSH2, MSH6, RB1 | 4.39 |
| 35 | Familial colorectal cancer | Enrichment | MLH1, MSH2, MUTYH, TP53 | 4.38 |
| 36 | Familial colorectal cancer type x | Enrichment | ATM, BRCA2, CHEK2, MUTYH | 4.19 |
| 37 | Xeroderma pigmentosum-cockayne syndrome complex | Enrichment | ERCC2, ERCC3, ERCC4 | 4.00 |
| 38 | Lynch syndrome | Enrichment | CHEK2, MLH1, MSH2, MSH6 | 3.60 |
| 39 | Primary ovarian insufficiency | Enrichment | CHEK2, ERCC1, FANCA, NBN, POLG, RAD54L, TP63 | 3.55 |
| 40 | Muir-torre syndrome | Enrichment | MLH1, MSH2 | 3.32 |
| 41 | Xeroderma pigmentosum, complementation group a | Enrichment | XPA, XPC | 3.32 |
| 42 | Diffuse midline glioma, h3 k27m-mutant | Enrichment | BRCA2, BRIP1 | 3.32 |
| 43 | Li-fraumeni syndrome 1 | Enrichment | CHEK2, TP53 | 3.32 |
| 44 | Sarcoma | Enrichment | CHEK2, TP53 | 3.32 |
| 45 | Inflammatory breast carcinoma | Enrichment | BRCA1, BRCA2 | 3.32 |
| 46 | Bilateral breast cancer | Enrichment | BRCA1, BRCA2 | 3.32 |
| 47 | Malignant peritoneal mesothelioma | Enrichment | LATS1, LATS2 | 3.32 |
| 48 | Primary autosomal recessive microcephaly | Enrichment | CDK6, CENPE, MCM7, MCPH1, NCAPD3 | 3.23 |
| 49 | Diffuse large b-cell lymphoma | Enrichment | BRCA2, CHEK2, NBN, TP53 | 3.18 |
| 50 | Cornelia de lange syndrome 1 | Enrichment | RAD21, SMC1A, SMC3 | 3.11 |
| 51 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | ADD1, BRCA2, BRIP1 | 3.11 |
| 52 | Cornelia de lange syndrome | Enrichment | RAD21, SMC1A, SMC3 | 3.11 |
| 53 | Leukemia, chronic lymphocytic | Enrichment | ATM, CCND1, TP53 | 2.96 |
| 54 | Isolated tracheo-esophageal fistula | Enrichment | ADD1, BRCA2, BRIP1 | 2.96 |
| 55 | Methylmalonic aciduria and homocystinuria, cblx type | Enrichment | CENPT, HCFC1 | 2.85 |
| 56 | Dedifferentiated liposarcoma | Enrichment | CDK4, MDM2 | 2.85 |
| 57 | Squamous cell carcinoma | Enrichment | RB1, TP53 | 2.85 |
| 58 | Adenocarcinoma | Enrichment | ATM, TP53 | 2.85 |
| 59 | Colon adenocarcinoma | Enrichment | MSH6, RAD54L | 2.85 |
| 60 | Well-differentiated liposarcoma | Enrichment | CDK4, MDM2 | 2.85 |
| 61 | Microcephaly | Enrichment | DDX3X, KIF11, MCM7, NBN, SMARCA5, SMARCAL1, SMC1A, SPART, YWHAG | 2.83 |
| 62 | Lip and oral cavity carcinoma | Enrichment | CDKN2A, RB1, TP53 | 2.71 |
| 63 | Premature menopause | Enrichment | ERCC1, NBN, TP63 | 2.60 |
| 64 | Hutchinson-gilford progeria syndrome | Enrichment | ERCC4, LMNA | 2.56 |
| 65 | Polyposis syndrome, hereditary mixed, 1 | Enrichment | BRCA1, BRCA2 | 2.56 |
| 66 | Cholangiocarcinoma | Enrichment | BRCA1, BRCA2 | 2.56 |
| 67 | Aicardi-goutieres syndrome 1 | Enrichment | ATRIP, DCLRE1C | 2.56 |
| 68 | Mantle cell lymphoma | Enrichment | ATM, CCND1 | 2.56 |
| 69 | Nijmegen breakage syndrome-like disorder | Enrichment | MRE11, RAD50 | 2.56 |
| 70 | Lung cancer susceptibility 3 | Enrichment | CDK12, RB1, TP53 | 2.50 |
| 71 | Wilms tumor 1 | Enrichment | BRCA2, CHEK2, TRIM28 | 2.41 |
| 72 | Fanconi anemia, complementation group d2 | Enrichment | BRIP1, FANCD2 | 2.34 |
| 73 | Von hippel-lindau syndrome | Enrichment | CCND1, FANCD2 | 2.34 |
| 74 | Breast-ovarian cancer, familial 2 | Enrichment | BRCA1, BRCA2 | 2.34 |
| 75 | Glioblastoma | Enrichment | ATM, MSH2 | 2.34 |
| 76 | Isolated congenital microcephaly | Enrichment | MCPH1, PNKP, SMARCAL1 | 2.33 |
| 77 | Cerebrooculofacioskeletal syndrome 1 | Enrichment | ERCC1, ERCC2 | 2.17 |
| 78 | Wilms tumor 5 | Enrichment | CHEK2, TRIM28 | 2.17 |
| 79 | Wiedemann-steiner syndrome | Enrichment | SMC1A, SMC3 | 2.17 |
| 80 | Adrenocortical carcinoma | Enrichment | CDKN2A, TP53 | 2.17 |
| 81 | Esophageal atresia/tracheoesophageal fistula | Enrichment | ADD1, BRCA2, BRIP1 | 2.11 |
| 82 | Esophageal cancer | Enrichment | TP53, WWOX | 2.03 |
| 83 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | Enrichment | CDKN2A, TP53 | 2.03 |
| 84 | Hepatocellular carcinoma | Enrichment | NBN, RAD50, TP53 | 1.93 |
| 85 | Glioma susceptibility 1 | Enrichment | H3C1, TP53 | 1.91 |
| 86 | Lymphoma, non-hodgkin, familial | Enrichment | RAD54L, TP53 | 1.91 |
| 87 | Mosaic variegated aneuploidy syndrome | Enrichment | BUB1B, BUB3 | 1.91 |
| 88 | Trichothiodystrophy | Enrichment | ERCC2, ERCC3 | 1.81 |
| 89 | Omenn syndrome | Enrichment | DCLRE1C, LIG4 | 1.72 |
| 90 | Melanoma | Enrichment | CDKN2A, CHEK2 | 1.72 |
| 91 | Palmoplantar keratoderma, punctate type ii | Enrichment | BRCA1 | 1.66 |
| 92 | Rapp-hodgkin syndrome | Enrichment | TP63 | 1.66 |
| 93 | Ankyloblepharon-ectodermal defects-cleft lip/palate | Enrichment | TP63 | 1.66 |
| 94 | Perry syndrome | Enrichment | DCTN1 | 1.66 |
| 95 | Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development | Enrichment | KIF11 | 1.66 |
| 96 | Bloom syndrome | Enrichment | BLM | 1.66 |
| 97 | Intellectual developmental disorder, x-linked, syndromic, gustavson type | Enrichment | RBMX | 1.66 |
| 98 | Developmental and epileptic encephalopathy 85 with or without midline brain defects | Enrichment | SMC1A | 1.66 |
| 99 | Rapadilino syndrome | Enrichment | RECQL4 | 1.66 |
| 100 | Holoprosencephaly 13, x-linked | Enrichment | STAG2 | 1.66 |
| 101 | Cornelia de lange syndrome 3 with or without midline brain defects | Enrichment | SMC3 | 1.66 |
| 102 | Split-hand/foot malformation 4 | Enrichment | TP63 | 1.66 |
| 103 | Seckel syndrome 2 | Enrichment | RBBP8 | 1.66 |
| 104 | Ankyloblepharon filiforme adnatum and cleft palate | Enrichment | TP63 | 1.66 |
| 105 | Cerebrooculofacioskeletal syndrome 4 | Enrichment | ERCC1 | 1.66 |
| 106 | Immunodeficiency 124, severe combined | Enrichment | NHEJ1 | 1.66 |
| 107 | Melanoma, cutaneous malignant 3 | Enrichment | CDK4 | 1.66 |
| 108 | Fanconi anemia, complementation group j | Enrichment | BRIP1 | 1.66 |
| 109 | Parathyroid carcinoma | Enrichment | CDC73 | 1.66 |
| 110 | Xeroderma pigmentosum, complementation group b | Enrichment | ERCC3 | 1.66 |
| 111 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | Enrichment | VCP | 1.66 |
| 112 | Hyperparathyroidism 2 with jaw tumors | Enrichment | CDC73 | 1.66 |
| 113 | Glioma susceptibility 3 | Enrichment | BRCA2 | 1.66 |
| 114 | Adult syndrome | Enrichment | TP63 | 1.66 |
| 115 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Enrichment | CCND2 | 1.66 |
| 116 | Ataxia-oculomotor apraxia 4 | Enrichment | PNKP | 1.66 |
| 117 | Seckel syndrome 1 | Enrichment | ATR | 1.66 |
| 118 | Microcephaly 12, primary, autosomal recessive | Enrichment | CDK6 | 1.66 |
| 119 | Mirror movements 2 | Enrichment | RAD51 | 1.66 |
| 120 | Schimke immunoosseous dysplasia | Enrichment | SMARCAL1 | 1.66 |
| 121 | Fanconi anemia, complementation group t | Enrichment | UBE2T | 1.66 |
| 122 | Meier-gorlin syndrome 3 | Enrichment | ORC6 | 1.66 |
| 123 | Accelerated tumor formation | Enrichment | MDM2 | 1.66 |
| 124 | Lissencephaly 7 with cerebellar hypoplasia | Enrichment | CDK5 | 1.66 |
| 125 | Premature chromatid separation trait | Enrichment | BUB1B | 1.66 |
| 126 | Cornelia de lange syndrome 4 with or without midline brain defects | Enrichment | RAD21 | 1.66 |
| 127 | Corpus callosum, agenesis of, with facial anomalies and robin sequence | Enrichment | DDX3X | 1.66 |
| 128 | Luo-schoch-yamamoto syndrome | Enrichment | RNF2 | 1.66 |
| 129 | Ciliary dyskinesia, primary, 47, and lissencephaly | Enrichment | TP73 | 1.66 |
| 130 | Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 | Enrichment | RPA1 | 1.66 |
| 131 | Fanconi anemia, complementation group r | Enrichment | RAD51 | 1.66 |
| 132 | White-kernohan syndrome | Enrichment | DDB1 | 1.66 |
| 133 | Fanconi anemia, complementation group b | Enrichment | FANCB | 1.66 |
| 134 | Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | Enrichment | PTPA | 1.66 |
| 135 | Brunet-wagner neurodevelopmental syndrome | Enrichment | RBL2 | 1.66 |
| 136 | Recon progeroid syndrome | Enrichment | RECQL | 1.66 |
| 137 | Oocyte/zygote/embryo maturation arrest 14 | Enrichment | CDC20 | 1.66 |
| 138 | Lessel-kubisch syndrome | Enrichment | MDM2 | 1.66 |
| 139 | Mullegama-klein-martinez syndrome | Enrichment | STAG2 | 1.66 |
| 140 | Bone marrow failure syndrome 5 | Enrichment | TP53 | 1.66 |
| 141 | Spastic paraplegia 20, autosomal recessive | Enrichment | SPART | 1.66 |
| 142 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | Enrichment | CCNF | 1.66 |
| 143 | Meier-gorlin syndrome 4 | Enrichment | CDT1 | 1.66 |
| 144 | Intellectual developmental disorder, x-linked, syndromic, nascimento type | Enrichment | UBE2A | 1.66 |
| 145 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | Enrichment | RRM1 | 1.66 |
| 146 | Intellectual developmental disorder, x-linked, syndromic, snijders blok type | Enrichment | DDX3X | 1.66 |
| 147 | Papilloma of choroid plexus | Enrichment | TP53 | 1.66 |
| 148 | Anisometropia | Enrichment | MCM7 | 1.66 |
| 149 | Basal cell carcinoma 7 | Enrichment | TP53 | 1.66 |
| 150 | Lynch syndrome 2 | Enrichment | MLH1 | 1.66 |
| 151 | Xeroderma pigmentosum, complementation group d | Enrichment | ERCC2 | 1.66 |
| 152 | Anaplastic thyroid carcinoma | Enrichment | TP53 | 1.66 |
| 153 | Infant-type hemispheric glioma | Enrichment | BRCA1 | 1.66 |
| 154 | Pancreatic cancer 2 | Enrichment | BRCA2 | 1.66 |
| 155 | Syndromic x-linked intellectual disability nascimento type | Enrichment | UBE2A | 1.66 |
| 156 | Jawad syndrome | Enrichment | RBBP8 | 1.66 |
| 157 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | Enrichment | TP63 | 1.66 |
| 158 | Houge-janssens syndrome 2 | Enrichment | PPP2R1A | 1.66 |
| 159 | Tumor predisposition syndrome 4 | Enrichment | CHEK2 | 1.66 |
| 160 | Limb-mammary syndrome | Enrichment | TP63 | 1.66 |
| 161 | Immunodeficiency 54 | Enrichment | MCM4 | 1.66 |
| 162 | Deafness, autosomal dominant 70 | Enrichment | MCM2 | 1.66 |
| 163 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | Enrichment | TDP1 | 1.66 |
| 164 | Trichothiodystrophy 2, photosensitive | Enrichment | ERCC3 | 1.66 |
| 165 | Ataxia-telangiectasia-like disorder 1 | Enrichment | MRE11 | 1.66 |
| 166 | Xeroderma pigmentosum group b | Enrichment | ERCC3 | 1.66 |
| 167 | Neuronopathy, distal hereditary motor, autosomal dominant 14 | Enrichment | DCTN1 | 1.66 |
| 168 | Xfe progeroid syndrome | Enrichment | ERCC4 | 1.66 |
| 169 | Rothmund-thomson syndrome, type 1 | Enrichment | ANAPC1 | 1.66 |
| 170 | Neuroendocrine tumor | Enrichment | CDKN1B | 1.66 |
| 171 | Cerebrooculofacioskeletal syndrome 2 | Enrichment | ERCC2 | 1.66 |
| 172 | Mungan syndrome | Enrichment | RAD21 | 1.66 |
| 173 | Cutaneous telangiectasia and cancer syndrome, familial | Enrichment | ATR | 1.66 |
| 174 | Premature ovarian failure 21 | Enrichment | TP63 | 1.66 |
| 175 | Immunodeficiency 26 with or without neurologic abnormalities | Enrichment | PRKDC | 1.66 |
| 176 | Ataxia-telangiectasia-like disorder 2 | Enrichment | PCNA | 1.66 |
| 177 | Endometrial serous adenocarcinoma | Enrichment | ATM | 1.66 |
| 178 | Cdc73-related disorders | Enrichment | CDC73 | 1.66 |
| 179 | Ductal carcinoma in situ | Enrichment | TP53 | 1.66 |
| 180 | Meier-gorlin syndrome 5 | Enrichment | CDC6 | 1.66 |
| 181 | Developmental and epileptic encephalopathy 56 | Enrichment | YWHAG | 1.66 |
| 182 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | Enrichment | VCP | 1.66 |
| 183 | Smarca4-deficient sarcoma of thorax | Enrichment | SMARCA4 | 1.66 |
| 184 | Ovarian small cell carcinoma | Enrichment | SMARCA4 | 1.66 |
| 185 | Deafness, autosomal dominant 75 | Enrichment | TRRAP | 1.66 |
| 186 | Orofacial cleft 8 | Enrichment | TP63 | 1.66 |
| 187 | Mismatch repair cancer syndrome 2 | Enrichment | MSH2 | 1.66 |
| 188 | Microcephaly 13, primary, autosomal recessive | Enrichment | CENPE | 1.66 |
| 189 | Ddx3x-related neurodevelopmental disorder | Enrichment | DDX3X | 1.66 |
| 190 | Atypical werner syndrome | Enrichment | LMNA | 1.66 |
| 191 | Xq25 microduplication syndrome | Enrichment | STAG2 | 1.66 |
| 192 | Meier-gorlin syndrome 6 | Enrichment | GMNN | 1.66 |
| 193 | Okur-chung neurodevelopmental syndrome | Enrichment | CSNK2A1 | 1.66 |
| 194 | Meier-gorlin syndrome 7 | Enrichment | CDC45 | 1.66 |
| 195 | Microcephaly 22, primary, autosomal recessive | Enrichment | NCAPD3 | 1.66 |
| 196 | Jansen-de vries syndrome | Enrichment | PPM1D | 1.66 |
| 197 | Short stature and microcephaly with genital anomalies | Enrichment | CENPT | 1.66 |
| 198 | Leiomyosarcoma | Enrichment | CHEK2 | 1.66 |
| 199 | Developmental delay with or without dysmorphic facies and autism | Enrichment | TRRAP | 1.66 |
| 200 | Spinocerebellar ataxia, autosomal recessive 26 | Enrichment | XRCC1 | 1.66 |
| 201 | Multisystem proteinopathy | Enrichment | VCP | 1.66 |
| 202 | Rectal benign neoplasm | Enrichment | MSH2 | 1.66 |
| 203 | Thyroid gland undifferentiated carcinoma | Enrichment | TP53 | 1.66 |
| 204 | Neuronopathy, distal hereditary motor, autosomal recessive 10 | Enrichment | VRK1 | 1.66 |
| 205 | Trilateral retinoblastoma | Enrichment | RB1 | 1.66 |
| 206 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | Enrichment | BRCC3 | 1.66 |
| 207 | Small-cell carcinoma of the ovary of hypercalcemic type | Enrichment | TP53 | 1.66 |
| 208 | Cdkn2a cancer predisposition | Enrichment | CDKN2A | 1.66 |
| 209 | B-lymphoblastic leukemia/lymphoma with etv6-runx1 | Enrichment | RECQL4 | 1.66 |
| 210 | Adult-onset distal myopathy due to vcp mutation | Enrichment | VCP | 1.66 |
| 211 | Mandibuloacral dysplasia | Enrichment | LMNA | 1.66 |
| 212 | Atrioventricular block | Enrichment | LMNA | 1.66 |
| 213 | Ascending colon cancer | Enrichment | MSH2 | 1.66 |
| 214 | Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype | Enrichment | TP53 | 1.66 |
| 215 | Breast ductal carcinoma | Enrichment | RAD54L | 1.66 |
| 216 | Oocyte/zygote/embryo maturation arrest 21 | Enrichment | CHEK1 | 1.66 |
| 217 | Tp63-related disorders | Enrichment | TP63 | 1.66 |
| 218 | Acute myeloid leukemia with multilineage dysplasia | Enrichment | NPM1 | 1.66 |
| 219 | B-cell non-hodgkin lymphoma | Enrichment | ATM | 1.66 |
| 220 | Choroid plexus cancer | Enrichment | TP53 | 1.66 |
| 221 | Ovarian cyst | Enrichment | MSH2 | 1.66 |
| 222 | Undifferentiated pleomorphic sarcoma | Enrichment | RECQL4 | 1.66 |
| 223 | Acute myeloid leukemia with npm1 somatic mutations | Enrichment | NPM1 | 1.66 |
| 224 | Wilms tumor 7 | Enrichment | TRIM28 | 1.66 |
| 225 | Childhood myocerebrohepatopathy spectrum | Enrichment | POLG | 1.66 |
| 226 | Xeroderma pigmentosum group d | Enrichment | ERCC2 | 1.66 |
| 227 | Esophagus squamous cell carcinoma | Enrichment | WWOX | 1.66 |
| 228 | Microphthalmia/coloboma 13 | Enrichment | NHEJ1 | 1.66 |
| 229 | Malignant fibrous histiocytoma | Enrichment | RECQL4 | 1.66 |
| 230 | Infection-induced acute-onset axonal neuropathy | Enrichment | RCC1 | 1.66 |
| 231 | Pleomorphic xanthoastrocytoma | Enrichment | TP53 | 1.66 |
| 232 | Lmna-related cardiocutaneous progeria syndrome | Enrichment | LMNA | 1.66 |
| 233 | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Enrichment | ATR | 1.66 |
| 234 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | Enrichment | CDKN1C | 1.66 |
| 235 | Ppp2r1a-related neurodevelopmental disorder | Enrichment | PPP2R1A | 1.66 |
| 236 | Autosomal semi-dominant severe lipodystrophic laminopathy | Enrichment | LMNA | 1.66 |
| 237 | Premature aging | Enrichment | VIM | 1.66 |
| 238 | Microcephaly-complex motor and sensory axonal neuropathy syndrome | Enrichment | VRK1 | 1.66 |
| 239 | Distal 17p13.3 microdeletion syndrome | Enrichment | YWHAE | 1.66 |
| 240 | Spinocerebellar ataxia with epilepsy | Enrichment | POLG | 1.66 |
| 241 | Recessive mitochondrial ataxia syndrome | Enrichment | POLG | 1.66 |
| 242 | X-linked intellectual disability-hypotonia-movement disorder syndrome | Enrichment | DDX3X | 1.66 |
| 243 | Primary peritoneal carcinoma | Enrichment | BRCA1 | 1.66 |
| 244 | Autosomal recessive axonal hereditary motor and sensory neuropathy | Enrichment | LMNA | 1.66 |
| 245 | 1p21.3 microdeletion syndrome | Enrichment | DPYD | 1.66 |
| 246 | Laminopathy | Enrichment | LMNA | 1.66 |
| 247 | Lung oat cell carcinoma | Enrichment | RB1 | 1.66 |
| 248 | Leukemia, acute lymphoblastic | Enrichment | CDKN2A, NBN | 1.64 |
| 249 | Acute promyelocytic leukemia | Enrichment | NPM1, NUMA1 | 1.50 |
| 250 | Nk-cell enteropathy | Enrichment | AURKB, CHEK2 | 1.50 |
| 251 | Lung cancer | Enrichment | BRCA1, CHEK2, MLH1 | 1.49 |
| 252 | Severe combined immunodeficiency | Enrichment | DCLRE1C, LIG4, NHEJ1 | 1.46 |
| 253 | Medulloblastoma | Enrichment | BRCA2, WRN | 1.44 |
| 254 | Male infertility with spermatogenesis disorder | Enrichment | AURKC, TP63 | 1.38 |
| 255 | Melanoma-astrocytoma syndrome | Enrichment | CDKN2A | 1.36 |
| 256 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 | Enrichment | TP63 | 1.36 |
| 257 | Adrenocortical carcinoma, hereditary | Enrichment | TP53 | 1.36 |
| 258 | Baller-gerold syndrome | Enrichment | RECQL4 | 1.36 |
| 259 | Stromme syndrome | Enrichment | CENPF | 1.36 |
| 260 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | Enrichment | CEP55 | 1.36 |
| 261 | Chromosome 2q35 duplication syndrome | Enrichment | NHEJ1 | 1.36 |
| 262 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | Enrichment | KIF11 | 1.36 |
| 263 | Mandibuloacral dysplasia with type a lipodystrophy | Enrichment | LMNA | 1.36 |
| 264 | Ogden syndrome | Enrichment | NAA10 | 1.36 |
| 265 | Microphthalmia, syndromic 1 | Enrichment | NAA10 | 1.36 |
| 266 | Ebstein anomaly | Enrichment | CDK8 | 1.36 |
| 267 | Xeroderma pigmentosum, complementation group f | Enrichment | ERCC4 | 1.36 |
| 268 | Xeroderma pigmentosum, complementation group c | Enrichment | XPC | 1.36 |
| 269 | Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism | Enrichment | BRCC3 | 1.36 |
| 270 | Cervical cancer | Enrichment | TP53 | 1.36 |
| 271 | Cornelia de lange syndrome 2 | Enrichment | SMC1A | 1.36 |
| 272 | Rothmund-thomson syndrome, type 2 | Enrichment | RECQL4 | 1.36 |
| 273 | Xeroderma pigmentosum, complementation group e | Enrichment | DDB2 | 1.36 |
| 274 | Intellectual developmental disorder, x-linked, syndromic, shashi type | Enrichment | RBMX | 1.36 |
| 275 | Fanconi anemia, complementation group i | Enrichment | POLG | 1.36 |
| 276 | Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia | Enrichment | VCP | 1.36 |
| 277 | Rhabdoid tumor predisposition syndrome 2 | Enrichment | SMARCA4 | 1.36 |
| 278 | Hyperparathyroidism 1 | Enrichment | CDC73 | 1.36 |
| 279 | Heart-hand syndrome, slovenian type | Enrichment | LMNA | 1.36 |
| 280 | Pontocerebellar hypoplasia, type 1a | Enrichment | VRK1 | 1.36 |
| 281 | Charcot-marie-tooth disease, axonal, type 2b1 | Enrichment | LMNA | 1.36 |
| 282 | Melanoma, cutaneous malignant 2 | Enrichment | CDKN2A | 1.36 |
| 283 | Familial adenomatous polyposis 2 | Enrichment | MUTYH | 1.36 |
| 284 | Developmental and epileptic encephalopathy 28 | Enrichment | WWOX | 1.36 |
| 285 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies | Enrichment | CDKN1C | 1.36 |
| 286 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | Enrichment | LMNA | 1.36 |
| 287 | Dubowitz syndrome | Enrichment | LIG4 | 1.36 |
| 288 | Charcot-marie-tooth disease, axonal, type 2b2 | Enrichment | PNKP | 1.36 |
| 289 | Developmental and epileptic encephalopathy 50 | Enrichment | CAD | 1.36 |
| 290 | Lig4 syndrome | Enrichment | LIG4 | 1.36 |
| 291 | Chromosome 13q14 deletion syndrome | Enrichment | RB1 | 1.36 |
| 292 | Lymphoma, hodgkin, classic | Enrichment | TP53 | 1.36 |
| 293 | Multiple endocrine neoplasia, type iv | Enrichment | CDKN1B | 1.36 |
| 294 | Spinocerebellar ataxia, autosomal recessive 12 | Enrichment | WWOX | 1.36 |
| 295 | Congenital heart defects, multiple types, 3 | Enrichment | CHEK2 | 1.36 |
| 296 | Encephalopathy, acute, infection-induced 10 | Enrichment | TPT1 | 1.36 |
| 297 | Cardiomyopathy, dilated, 1d | Enrichment | LMNA | 1.36 |
| 298 | Severe combined immunodeficiency with sensitivity to ionizing radiation | Enrichment | DCLRE1C | 1.36 |
| 299 | Restrictive dermopathy 2 | Enrichment | LMNA | 1.36 |
| 300 | Gabriele-de vries syndrome | Enrichment | YY1 | 1.36 |
| 301 | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | Enrichment | KAT5 | 1.36 |
| 302 | Dystonia 30 | Enrichment | PTPRA | 1.36 |
| 303 | Emery-dreifuss muscular dystrophy 3, autosomal recessive | Enrichment | LMNA | 1.36 |
| 304 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 | Enrichment | POLG | 1.36 |
| 305 | Fanconi anemia, complementation group s | Enrichment | BRCA1 | 1.36 |
| 306 | Cardiac valvular dysplasia, x-linked | Enrichment | ATM | 1.36 |
| 307 | Werner syndrome | Enrichment | WRN | 1.36 |
| 308 | Pancreatic cancer 4 | Enrichment | BRCA1 | 1.36 |
| 309 | Ovarian cancer 1 | Enrichment | BRIP1 | 1.36 |
| 310 | Intellectual developmental disorder, x-linked, syndromic, pilorge type | Enrichment | FANCB | 1.36 |
| 311 | Bladder exstrophy | Enrichment | TP63 | 1.36 |
| 312 | Fanconi anemia, complementation group q | Enrichment | ERCC4 | 1.36 |
| 313 | Rhabdoid tumor predisposition syndrome | Enrichment | SMARCA4 | 1.36 |
| 314 | Microcephaly and chorioretinopathy 1 | Enrichment | KIF11 | 1.36 |
| 315 | Kala-azar 2 | Enrichment | GSTP1 | 1.36 |
| 316 | Charcot-marie-tooth disease type 2b2 | Enrichment | PNKP | 1.36 |
| 317 | Microcephaly, seizures, and developmental delay | Enrichment | PNKP | 1.36 |
| 318 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | Enrichment | TP53BP1 | 1.36 |
| 319 | Xeroderma pigmentosum group f | Enrichment | ERCC4 | 1.36 |
| 320 | Melanoma-pancreatic cancer syndrome | Enrichment | CDKN2A | 1.36 |
| 321 | Cataract 30 | Enrichment | VIM | 1.36 |
| 322 | Syndromic x-linked intellectual disability shashi type | Enrichment | RBMX | 1.36 |
| 323 | Lipodystrophy, familial partial, type 1 | Enrichment | LMNA | 1.36 |
| 324 | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | Enrichment | PRIM1 | 1.36 |
| 325 | Al kaissi syndrome | Enrichment | CDK10 | 1.36 |
| 326 | Congenital fibrosarcoma | Enrichment | TP53 | 1.36 |
| 327 | High grade glioma | Enrichment | ATM | 1.36 |
| 328 | Fanconi anemia, complementation group d1 | Enrichment | BRCA2 | 1.36 |
| 329 | Developmental and epileptic encephalopathy 78 | Enrichment | YY1 | 1.36 |
| 330 | Otosclerosis 12 | Enrichment | SMARCA4 | 1.36 |
| 331 | Coffin-siris syndrome 4 | Enrichment | SMARCA4 | 1.36 |
| 332 | Cervix carcinoma | Enrichment | TP53 | 1.36 |
| 333 | Hodgkin's lymphoma | Enrichment | TP53 | 1.36 |
| 334 | Insulinoma | Enrichment | YY1 | 1.36 |
| 335 | T-cell prolymphocytic leukemia | Enrichment | ATM | 1.36 |
| 336 | Methylmalonic aciduria and homocystinuria, cbll type | Enrichment | CENPT | 1.36 |
| 337 | Polg-related disorders | Enrichment | POLG | 1.36 |
| 338 | Autosomal recessive progressive external ophthalmoplegia | Enrichment | POLG | 1.36 |
| 339 | Acute myeloid leukemia without maturation | Enrichment | NPM1 | 1.36 |
| 340 | Dyskeratosis congenita, digenic | Enrichment | TYMS | 1.36 |
| 341 | Mismatch repair cancer syndrome 3 | Enrichment | MSH6 | 1.36 |
| 342 | Congenital pontocerebellar hypoplasia type 1 | Enrichment | VRK1 | 1.36 |
| 343 | Xeroderma pigmentosum group c | Enrichment | XPC | 1.36 |
| 344 | Lymphatic malformation 10 | Enrichment | MCPH1 | 1.36 |
| 345 | Fissured tongue | Enrichment | TP63 | 1.36 |
| 346 | Houge-janssens syndrome 3 | Enrichment | PPP2CA | 1.36 |
| 347 | Intellectual developmental disorder with hypotonia and behavioral abnormalities | Enrichment | CDK8 | 1.36 |
| 348 | Peritoneum cancer | Enrichment | BRCA1 | 1.36 |
| 349 | Lymphomatoid papulosis | Enrichment | NPM1 | 1.36 |
| 350 | Distal hereditary motor neuropathy type 7 | Enrichment | DCTN1 | 1.36 |
| 351 | Microcephaly and chorioretinopathy 3 | Enrichment | TP53BP1 | 1.36 |
| 352 | Familial partial lipodystrophy | Enrichment | LMNA | 1.36 |
| 353 | Vacterl with hydrocephalus | Enrichment | FANCB | 1.36 |
| 354 | Familial retinoblastoma | Enrichment | RB1 | 1.36 |
| 355 | Charcot-marie-tooth disease type 2b1 | Enrichment | LMNA | 1.36 |
| 356 | Xeroderma pigmentosum group e | Enrichment | DDB2 | 1.36 |
| 357 | Pleomorphic rhabdomyosarcoma | Enrichment | TP53 | 1.36 |
| 358 | Primary cutaneous anaplastic large cell lymphoma | Enrichment | NPM1 | 1.36 |
| 359 | Spastic paraplegia-paget disease of bone syndrome | Enrichment | VCP | 1.36 |
| 360 | Neuroendocrine tumor of pancreas | Enrichment | BRCA2 | 1.36 |
| 361 | Leukemia, acute myeloid | Enrichment | FANCD2, NPM1, TP53 | 1.25 |
| 362 | Semilobar holoprosencephaly | Enrichment | SMC1A, STAG2 | 1.24 |
| 363 | Neuropathy, hereditary motor and sensory, okinawa type | Enrichment | LMNA, VCP | 1.20 |
| 364 | Dyskeratosis congenita | Enrichment | NPM1, TYMS | 1.20 |
| 365 | Retinoblastoma | Enrichment | RB1 | 1.19 |
| 366 | Ataxia-telangiectasia | Enrichment | ATM | 1.19 |
| 367 | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations | Enrichment | ATRIP | 1.19 |
| 368 | Nijmegen breakage syndrome | Enrichment | NBN | 1.19 |
| 369 | Polycythemia vera | Enrichment | ATM | 1.19 |
| 370 | Trichothiodystrophy 1, photosensitive | Enrichment | ERCC2 | 1.19 |
| 371 | Restrictive dermopathy 1 | Enrichment | LMNA | 1.19 |
| 372 | Dihydropyrimidine dehydrogenase deficiency | Enrichment | DPYD | 1.19 |
| 373 | Chilblain lupus 1 | Enrichment | ATRIP | 1.19 |
| 374 | Spastic paraplegia 7, autosomal recessive | Enrichment | MUTYH | 1.19 |
| 375 | Nasopharyngeal carcinoma | Enrichment | TP53 | 1.19 |
| 376 | Lipodystrophy, familial partial, type 2 | Enrichment | LMNA | 1.19 |
| 377 | Ehlers-danlos syndrome, kyphoscoliotic type, 1 | Enrichment | DCLRE1C | 1.19 |
| 378 | Woolly hair, autosomal recessive 3 | Enrichment | RB1 | 1.19 |
| 379 | Dyskeratosis congenita, autosomal dominant 6 | Enrichment | ACD | 1.19 |
| 380 | Miller-dieker lissencephaly syndrome | Enrichment | YWHAE | 1.19 |
| 381 | Muscular dystrophy, congenital, lmna-related | Enrichment | LMNA | 1.19 |
| 382 | Chromosome 17p13.3, centromeric, duplication syndrome | Enrichment | YWHAE | 1.19 |
| 383 | Tumor predisposition syndrome 1 | Enrichment | BRCA2 | 1.19 |
| 384 | Lynch syndrome 5 | Enrichment | MSH6 | 1.19 |
| 385 | Pontocerebellar hypoplasia, type 1b | Enrichment | VRK1 | 1.19 |
| 386 | Arthrogryposis multiplex congenita 6 | Enrichment | RIF1 | 1.19 |
| 387 | Hypotrichosis 8 | Enrichment | RB1 | 1.19 |
| 388 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia | Enrichment | VCP | 1.19 |
| 389 | Koolen-de vries syndrome | Enrichment | ATM | 1.19 |
| 390 | Wieacker-wolff syndrome | Enrichment | CCNH | 1.19 |
| 391 | Chilblain lupus | Enrichment | ATRIP | 1.19 |
| 392 | Atypical teratoid rhabdoid tumor | Enrichment | TP53 | 1.19 |
| 393 | Anaplastic astrocytoma | Enrichment | TP53 | 1.19 |
| 394 | Cellular ependymoma | Enrichment | MSH2 | 1.19 |
| 395 | Tanycytic ependymoma | Enrichment | MSH2 | 1.19 |
| 396 | Papillary ependymoma | Enrichment | MSH2 | 1.19 |
| 397 | Parathyroid adenoma | Enrichment | CDC73 | 1.19 |
| 398 | Bap1 tumor predisposition syndrome | Enrichment | BRCA2 | 1.19 |
| 399 | Restrictive dermopathy | Enrichment | LMNA | 1.19 |
| 400 | Plod1-related kyphoscoliotic ehlers-danlos syndrome | Enrichment | DCLRE1C | 1.19 |
| 401 | Familial isolated hyperparathyroidism | Enrichment | CDC73 | 1.19 |
| 402 | Respiratory failure | Enrichment | TP73 | 1.19 |
| 403 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | Enrichment | MSH6 | 1.19 |
| 404 | Idiopathic camptocormia | Enrichment | POLG | 1.19 |
| 405 | Isolated anophthalmia-microphthalmia syndrome | Enrichment | NHEJ1 | 1.19 |
| 406 | Clear cell ependymoma | Enrichment | MSH2 | 1.19 |
| 407 | Congenital nervous system abnormality | Enrichment | MCPH1, PNKP, POLG, SMC1A, WWOX | 1.08 |
| 408 | Nervous system disease | Enrichment | MCPH1, PNKP, POLG, SMC1A, WWOX | 1.08 |
| 409 | Mirror movements 1 | Enrichment | RAD51 | 1.07 |
| 410 | Trichorhinophalangeal syndrome, type ii | Enrichment | RAD21 | 1.07 |
| 411 | Gaucher disease, type i | Enrichment | MSH6 | 1.07 |
| 412 | Cystinuria | Enrichment | CENPF | 1.07 |
| 413 | Nemaline myopathy 2 | Enrichment | RIF1 | 1.07 |
| 414 | Chordoma | Enrichment | BRCA2 | 1.07 |
| 415 | Emery-dreifuss muscular dystrophy 1, x-linked | Enrichment | LMNA | 1.07 |
| 416 | Erythrocytosis, familial, 2 | Enrichment | FANCD2 | 1.07 |
| 417 | Thyroid cancer, nonmedullary, 1 | Enrichment | TP53 | 1.07 |
| 418 | Astigmatism | Enrichment | MCM7 | 1.07 |
| 419 | Microtia-anotia | Enrichment | LMNA | 1.07 |
| 420 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Enrichment | CCND2 | 1.07 |
| 421 | Pilomatrixoma | Enrichment | MUTYH | 1.07 |
| 422 | Ciliary dyskinesia, primary, 29 | Enrichment | CENPF | 1.07 |
| 423 | Developmental and epileptic encephalopathy 12 | Enrichment | PNKP | 1.07 |
| 424 | Congenital generalized lipodystrophy | Enrichment | FOS | 1.07 |
| 425 | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | Enrichment | POLR2A | 1.07 |
| 426 | Enophthalmos | Enrichment | MCM7 | 1.07 |
| 427 | Emery-dreifuss muscular dystrophy | Enrichment | LMNA | 1.07 |
| 428 | Lung sarcomatoid carcinoma | Enrichment | TP53 | 1.07 |
| 429 | Generalized epilepsy | Enrichment | POLG | 1.07 |
| 430 | Embryonal rhabdomyosarcoma | Enrichment | TP53 | 1.07 |
| 431 | Craniopharyngioma | Enrichment | ERCC2 | 1.07 |
| 432 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Enrichment | YWHAZ | 1.07 |
| 433 | Hemoglobin c disease | Enrichment | CHEK2 | 1.07 |
| 434 | Charcot-marie-tooth hereditary neuropathy | Enrichment | VRK1 | 1.07 |
| 435 | Autosomal recessive chorioretinopathy-microcephaly syndrome | Enrichment | TP53BP1 | 1.07 |
| 436 | Sick sinus syndrome | Enrichment | LMNA | 1.07 |
| 437 | Silver-russell syndrome due to a point mutation | Enrichment | CDKN1C | 1.07 |
| 438 | Primary hyperparathyroidism | Enrichment | CDKN1B | 1.07 |
| 439 | Benign ependymoma | Enrichment | MSH2 | 1.07 |
| 440 | Cleft lip and alveolus | Enrichment | TP63 | 1.07 |
| 441 | Thrombotic microangiopathy | Enrichment | ATRIP | 1.07 |
| 442 | Oculomotor apraxia | Enrichment | ATM | 1.07 |
| 443 | Male infertility due to gonadal dysgenesis or sperm disorder | Enrichment | CHEK1 | 1.07 |
| 444 | Pseudomyogenic hemangioendothelioma | Enrichment | FOSB | 1.07 |
| 445 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | CDKN2A, DDX3X | 1.05 |
| 446 | Autosomal dominant non-syndromic intellectual disability | Enrichment | BRSK2, PPM1D, YWHAZ | 1.02 |
| 447 | Muscular dystrophy | Enrichment | LMNA, RIF1 | 1.02 |
| 448 | Developmental and epileptic encephalopathy 1 | Enrichment | CAD, WWOX | 0.99 |
| 449 | Capillary malformations, congenital | Enrichment | CCNH | 0.98 |
| 450 | Dementia, lewy body | Enrichment | VCP | 0.98 |
| 451 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | ATRIP | 0.98 |
| 452 | Cockayne syndrome a | Enrichment | ERCC4 | 0.98 |
| 453 | Microcephaly 1, primary, autosomal recessive | Enrichment | MCPH1 | 0.98 |
| 454 | Rhabdomyosarcoma 2 | Enrichment | TP53 | 0.98 |
| 455 | Atrioventricular septal defect | Enrichment | SMARCAL1 | 0.98 |
| 456 | Mosaic variegated aneuploidy syndrome 1 | Enrichment | BUB1B | 0.98 |
| 457 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Enrichment | POLG | 0.98 |
| 458 | Familial adenomatous polyposis 1 | Enrichment | MUTYH | 0.98 |
| 459 | Charcot-marie-tooth disease, axonal, type 2e | Enrichment | VCP | 0.98 |
| 460 | Autosomal recessive cerebellar ataxia | Enrichment | ERCC4 | 0.98 |
| 461 | Lymphoma | Enrichment | TP53 | 0.98 |
| 462 | Autosomal recessive limb-girdle muscular dystrophy type 2b | Enrichment | LMNA | 0.98 |
| 463 | Acute myeloid leukemia with maturation | Enrichment | NPM1 | 0.98 |
| 464 | Spinal muscular atrophy | Enrichment | VRK1 | 0.98 |
| 465 | Vascular dementia | Enrichment | ATRIP | 0.98 |
| 466 | Acute megakaryocytic leukemia | Enrichment | TP53 | 0.98 |
| 467 | Cleft upper lip | Enrichment | TP63 | 0.98 |
| 468 | Autosomal thrombocytopenia with normal platelets | Enrichment | MASTL | 0.98 |
| 469 | Genetic motor neuron disease | Enrichment | DCTN1 | 0.98 |
| 470 | Farsightedness | Enrichment | MCM7 | 0.98 |
| 471 | Endometrial stromal sarcoma | Enrichment | YWHAE | 0.98 |
| 472 | Cockayne syndrome b | Enrichment | ERCC1 | 0.91 |
| 473 | Klippel-trenaunay-weber syndrome | Enrichment | CCNH | 0.91 |
| 474 | Kabuki syndrome 1 | Enrichment | BRCA2 | 0.91 |
| 475 | Emery-dreifuss muscular dystrophy 2, autosomal dominant | Enrichment | LMNA | 0.91 |
| 476 | Machado-joseph disease | Enrichment | POLG | 0.91 |
| 477 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 | Enrichment | POLG | 0.91 |
| 478 | Telangiectasia, hereditary hemorrhagic, type 1 | Enrichment | CCNH | 0.91 |
| 479 | Hemangioma, capillary infantile | Enrichment | CCNH | 0.91 |
| 480 | Mitochondrial dna depletion syndrome 1 | Enrichment | POLG | 0.91 |
| 481 | Basal cell carcinoma 1 | Enrichment | CCNH | 0.91 |
| 482 | Pontocerebellar hypoplasia, type 1e | Enrichment | VRK1 | 0.91 |
| 483 | Mitochondrial dna depletion syndrome | Enrichment | POLG | 0.91 |
| 484 | Clear cell renal cell carcinoma | Enrichment | ATM | 0.91 |
| 485 | Hoyeraal-hreidarsson syndrome | Enrichment | ACD | 0.91 |
| 486 | Breast adenocarcinoma | Enrichment | TP53 | 0.91 |
| 487 | Lung squamous cell carcinoma | Enrichment | CDKN2A | 0.91 |
| 488 | Kidney clear cell sarcoma | Enrichment | YWHAE | 0.91 |
| 489 | Syndromic rod-cone dystrophy | Enrichment | KIF11 | 0.91 |
| 490 | Severe covid-19 | Enrichment | CENPF, RECQL4 | 0.88 |
| 491 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Enrichment | CCNF, DCTN1, VCP | 0.88 |
| 492 | Bethlem myopathy 1a | Enrichment | LMNA | 0.84 |
| 493 | Mitochondrial dna depletion syndrome 4a | Enrichment | POLG | 0.84 |
| 494 | Squamous cell carcinoma, head and neck | Enrichment | TP53 | 0.84 |
| 495 | Capillary malformation-arteriovenous malformation 1 | Enrichment | CCNH | 0.84 |
| 496 | Renal cell carcinoma, papillary, 1 | Enrichment | ATM | 0.84 |
| 497 | Essential thrombocythemia | Enrichment | TP53 | 0.84 |
| 498 | Cockayne syndrome | Enrichment | ERCC4 | 0.84 |
| 499 | Gallbladder cancer | Enrichment | TP53 | 0.84 |
| 500 | Hereditary hemorrhagic telangiectasia | Enrichment | CCNH | 0.84 |
| 501 | Spermatogenic failure 5 | Enrichment | AURKC | 0.79 |
| 502 | Isolated growth hormone deficiency, type ia | Enrichment | BRCA2 | 0.79 |
| 503 | Methylmalonic aciduria and homocystinuria, cblc type | Enrichment | HCFC1 | 0.79 |
| 504 | Ewing sarcoma | Enrichment | SMARCA5 | 0.79 |
| 505 | Rett syndrome, congenital variant | Enrichment | SMC1A | 0.79 |
| 506 | Mitochondrial dna depletion syndrome 4b | Enrichment | POLG | 0.79 |
| 507 | Congenital muscular dystrophy | Enrichment | LMNA | 0.79 |
| 508 | Neuroblastoma | Enrichment | SMARCA4 | 0.79 |
| 509 | Myocarditis | Enrichment | LMNA | 0.79 |
| 510 | Isolated split hand-split foot malformation | Enrichment | TP63 | 0.79 |
| 511 | Inflammatory bowel disease 1 | Enrichment | ERCC2 | 0.74 |
| 512 | Polydactyly | Enrichment | BRCA2 | 0.74 |
| 513 | Arrhythmogenic right ventricular dysplasia, familial, 9 | Enrichment | LMNA | 0.74 |
| 514 | Leukemia, acute lymphoblastic 3 | Enrichment | ERCC4 | 0.74 |
| 515 | Arteriovenous malformation | Enrichment | CCNH | 0.74 |
| 516 | Adult hepatocellular carcinoma | Enrichment | TP53 | 0.74 |
| 517 | Progressive non-fluent aphasia | Enrichment | VCP | 0.74 |
| 518 | Primary hyperaldosteronism | Enrichment | TP53 | 0.74 |
| 519 | Ventricular septal defect | Enrichment | SMARCA4 | 0.74 |
| 520 | Autosomal dominant cerebellar ataxia | Enrichment | POLG | 0.74 |
| 521 | Hypotrichosis simplex | Enrichment | ERCC2 | 0.74 |
| 522 | Behavioral variant of frontotemporal dementia | Enrichment | VCP | 0.74 |
| 523 | Juvenile amyotrophic lateral sclerosis | Enrichment | VRK1 | 0.74 |
| 524 | Mitochondrial neurogastrointestinal encephalomyopathy | Enrichment | POLG | 0.74 |
| 525 | Amyotrophic lateral sclerosis 1 | Enrichment | DCTN1 | 0.70 |
| 526 | Cataract 30, multiple types | Enrichment | VIM | 0.70 |
| 527 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | Enrichment | VCP | 0.70 |
| 528 | Myopathy, x-linked, with excessive autophagy | Enrichment | CCNH | 0.70 |
| 529 | Aplastic anemia | Enrichment | NBN | 0.70 |
| 530 | Aicardi-goutieres syndrome | Enrichment | ATRIP | 0.70 |
| 531 | Nemaline myopathy | Enrichment | RIF1 | 0.70 |
| 532 | Cerebral palsy | Enrichment | BRCA2, SMARCA4 | 0.68 |
| 533 | Immune deficiency disease | Enrichment | ATM | 0.67 |
| 534 | Frontotemporal dementia 1 | Enrichment | DCTN1 | 0.67 |
| 535 | Myelodysplastic syndrome | Enrichment | TP53 | 0.67 |
| 536 | Atrial heart septal defect | Enrichment | SMARCA4 | 0.67 |
| 537 | Interatrial communication | Enrichment | SMARCA4 | 0.67 |
| 538 | Specific learning disability | Enrichment | YWHAG | 0.67 |
| 539 | Epilepsy | Enrichment | APTX, WWOX | 0.66 |
| 540 | Charcot-marie-tooth disease | Enrichment | DCTN1, LMNA | 0.65 |
| 541 | Cardiac conduction defect | Enrichment | LMNA | 0.63 |
| 542 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | Enrichment | LMNA | 0.63 |
| 543 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant | Enrichment | LMNA | 0.63 |
| 544 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant | Enrichment | LMNA | 0.63 |
| 545 | Diaphragmatic hernia, congenital | Enrichment | CDK8 | 0.60 |
| 546 | Hypercholesterolemia, familial, 1 | Enrichment | SMARCA4 | 0.60 |
| 547 | Alzheimer's disease | Enrichment | VCP | 0.60 |
| 548 | Oligospermia | Enrichment | CDK16 | 0.60 |
| 549 | Periventricular nodular heterotopia | Enrichment | BRCA1 | 0.58 |
| 550 | Heart disease | Enrichment | RECQL4 | 0.58 |
| 551 | Cataract | Enrichment | WRN | 0.58 |
| 552 | Cleft lip/palate | Enrichment | TP63 | 0.58 |
| 553 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | LMNA | 0.58 |
| 554 | Pituitary stalk interruption syndrome | Enrichment | FANCA | 0.58 |
| 555 | 46,xy partial gonadal dysgenesis | Enrichment | WWOX | 0.58 |
| 556 | Coffin-siris syndrome 1 | Enrichment | SMARCA4 | 0.55 |
| 557 | Renal cell carcinoma, nonpapillary | Enrichment | ATM | 0.55 |
| 558 | Corpus callosum, agenesis of | Enrichment | ERCC2 | 0.55 |
| 559 | Atypical hemolytic-uremic syndrome | Enrichment | SMARCAL1 | 0.55 |
| 560 | Familial hypercholesterolemia | Enrichment | SMARCA4 | 0.55 |
| 561 | Isolated corpus callosum agenesis | Enrichment | ERCC2 | 0.55 |
| 562 | Rare genetic intellectual disability | Enrichment | DDX3X | 0.55 |
| 563 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | ERCC2 | 0.55 |
| 564 | Complex neurodevelopmental disorder | Enrichment | CDK8, CSNK2A1, PPP2CA, RNF2 | 0.54 |
| 565 | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | Enrichment | DDX3X | 0.53 |
| 566 | Hydrocephalus, congenital, 1 | Enrichment | CDK8 | 0.53 |
| 567 | Arrhythmogenic right ventricular cardiomyopathy | Enrichment | LMNA | 0.53 |
| 568 | Alzheimer disease, familial, 1 | Enrichment | VCP | 0.50 |
| 569 | Hypertension, essential | Enrichment | ADD1 | 0.50 |
| 570 | Cleft palate, isolated | Enrichment | SMARCA4 | 0.50 |
| 571 | Cardiomyopathy, dilated, 1e | Enrichment | LMNA | 0.50 |
| 572 | Polycystic liver disease | Enrichment | CDC25A | 0.50 |
| 573 | Autosomal dominant polycystic liver disease | Enrichment | CDC25A | 0.50 |
| 574 | Alobar holoprosencephaly | Enrichment | STAG2 | 0.50 |
| 575 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | MCM2, TRRAP | 0.50 |
| 576 | Familial isolated dilated cardiomyopathy | Enrichment | LMNA, TMPO | 0.49 |
| 577 | Beckwith-wiedemann syndrome | Enrichment | CDKN1C | 0.48 |
| 578 | Heart, malformation of | Enrichment | CDK8 | 0.48 |
| 579 | Pontocerebellar hypoplasia | Enrichment | VRK1 | 0.48 |
| 580 | Neuromuscular disease | Enrichment | LMNA | 0.48 |
| 581 | Early infantile developmental and epileptic encephalopathy | Enrichment | PNKP | 0.48 |
| 582 | Undetermined early-onset epileptic encephalopathy | Enrichment | WWOX, YWHAG | 0.46 |
| 583 | Williams-beuren syndrome | Enrichment | CDKN1C | 0.45 |
| 584 | Leukodystrophy | Enrichment | ERCC2 | 0.45 |
| 585 | Focal segmental glomerulosclerosis | Enrichment | SMARCAL1 | 0.45 |
| 586 | Cardiomyopathy, dilated, 1a | Enrichment | LMNA | 0.43 |
| 587 | Lissencephaly | Enrichment | NBN | 0.43 |
| 588 | Microphthalmia | Enrichment | MCM7 | 0.41 |
| 589 | Diamond-blackfan anemia 1 | Enrichment | TP53 | 0.40 |
| 590 | Cardiomyopathy, familial hypertrophic, 1 | Enrichment | LMNA | 0.39 |
| 591 | Brugada syndrome | Enrichment | LMNA | 0.36 |
| 592 | Strabismus | Enrichment | SPART | 0.35 |
| 593 | Differentiated thyroid carcinoma | Enrichment | PCM1 | 0.33 |
| 594 | Long qt syndrome | Enrichment | LMNA | 0.30 |
| 595 | Peripheral nervous system disease | Enrichment | LMNA | 0.30 |
| 596 | Neuropathy | Enrichment | LMNA | 0.30 |
| 597 | Nephronophthisis | Enrichment | INCENP | 0.29 |
| 598 | Left ventricular noncompaction | Enrichment | LMNA | 0.27 |
| 599 | Non-syndromic x-linked intellectual disability | Enrichment | HCFC1 | 0.26 |
| 600 | Diamond-blackfan anemia | Enrichment | TP53 | 0.26 |
| 601 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Enrichment | POLG | 0.25 |
| 602 | Systemic lupus erythematosus | Enrichment | ATRIP | 0.24 |
| 603 | Benign epilepsy with centrotemporal spikes | Enrichment | WWOX | 0.22 |
| 604 | Type 2 diabetes mellitus | Enrichment | WRN | 0.22 |
| 605 | Hereditary spastic paraplegia | Enrichment | POLG | 0.22 |
| 606 | Centralopathic epilepsy | Enrichment | WWOX | 0.21 |
| 607 | Nephrotic syndrome | Enrichment | SMARCAL1 | 0.21 |
| 608 | Hypertrophic cardiomyopathy | Enrichment | POLG | 0.21 |
| 609 | West syndrome | Enrichment | WWOX | 0.21 |
| 610 | Body mass index quantitative trait locus 11 | Enrichment | POLG | 0.17 |
| 611 | Spastic ataxia | Enrichment | ERCC4 | 0.16 |
| 612 | Autism spectrum disorder | Enrichment | CSNK2A1, SMC3 | 0.16 |
| 613 | Leigh syndrome, nuclear | Enrichment | POLG | 0.11 |
| 614 | Dilated cardiomyopathy | Enrichment | LMNA | 0.08 |
| 615 | Mitochondrial disease | Enrichment | POLG | 0.07 |
| 616 | Hereditary retinal dystrophy | Enrichment | ATRIP, KIF11 | 0.01 |
| 617 | Fundus dystrophy | Enrichment | ATRIP, KIF11 | 0.01 |
| 618 | Retinitis pigmentosa | Enrichment | KIF11 | 0.00 |