Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Xeroderma Pigmentosum XPA disease C0043346 GeneticVariation 0.7 orphanet , disgenet
Xeroderma Pigmentosum XPC disease C0043346 GeneticVariation 0.7 orphanet , disgenet
Xeroderma Pigmentosum XPA disease C0043346 AlteredExpression 0.7 orphanet , disgenet
Xeroderma Pigmentosum XPC disease C0043346 Biomarker 0.7 orphanet , disgenet
Xeroderma Pigmentosum XPA disease C0043346 CausalMutation 0.7 orphanet , disgenet
Xeroderma Pigmentosum XPC disease C0043346 CausalMutation 0.7 orphanet , disgenet
Xeroderma Pigmentosum XPC disease C0043346 AlteredExpression 0.7 orphanet , disgenet
Xeroderma Pigmentosum XPA disease C0043346 Biomarker 0.7 orphanet , disgenet
Xeroderma Pigmentosum POLH disease C0043346 Biomarker 0.6 orphanet , disgenet
Xeroderma Pigmentosum POLH disease C0043346 GeneticVariation 0.6 orphanet , disgenet
Xeroderma Pigmentosum ERCC2 disease C0043346 GeneticVariation 0.4 orphanet , disgenet
Xeroderma Pigmentosum ERCC2 disease C0043346 AlteredExpression 0.4 orphanet , disgenet
Xeroderma Pigmentosum ERCC2 disease C0043346 Biomarker 0.4 orphanet , disgenet
Xeroderma Pigmentosum ERCC5 disease C0043346 GeneticVariation 0.4 orphanet , disgenet
Xeroderma Pigmentosum ERCC5 disease C0043346 Biomarker 0.4 orphanet , disgenet
Xeroderma Pigmentosum ERCC5 disease C0043346 CausalMutation 0.4 orphanet , disgenet
Xeroderma Pigmentosum ERCC1 disease C0043346 Biomarker 0.37 disgenet
Xeroderma Pigmentosum ERCC1 disease C0043346 GeneticVariation 0.37 disgenet
Xeroderma Pigmentosum DDB2 disease C0043346 GeneticVariation 0.3 orphanet , disgenet
Xeroderma Pigmentosum ERCC3 disease C0043346 Biomarker 0.3 orphanet , disgenet
Xeroderma Pigmentosum ERCC3 disease C0043346 GeneticVariation 0.3 orphanet , disgenet
Xeroderma Pigmentosum ERCC4 disease C0043346 Biomarker 0.3 orphanet , disgenet
Xeroderma Pigmentosum ERCC3 disease C0043346 AlteredExpression 0.3 orphanet , disgenet
Xeroderma Pigmentosum DDB2 disease C0043346 AlteredExpression 0.3 orphanet , disgenet
Xeroderma Pigmentosum ERCC4 disease C0043346 GeneticVariation 0.3 orphanet , disgenet
Xeroderma Pigmentosum DDB2 disease C0043346 Biomarker 0.3 orphanet , disgenet
Xeroderma Pigmentosum TERF2 disease C0043346 Biomarker 0.2 disgenet
Xeroderma Pigmentosum GTF2H5 disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum GTF2H5 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum GTF2H2 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum GTF2H3 disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum GTF2H4 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum BIVM-ERCC5 disease C0043346 CausalMutation 0.1 disgenet
Xeroderma Pigmentosum GTF2H3 disease C0043346 AlteredExpression 0.1 disgenet
Xeroderma Pigmentosum GTF2H1 disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum GTF2H4 disease C0043346 AlteredExpression 0.1 disgenet
Xeroderma Pigmentosum GTF2H5 disease C0043346 AlteredExpression 0.1 disgenet
Xeroderma Pigmentosum GTF2H3 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum NR1H2 disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum GTF2H2 disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum BIVM-ERCC5 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum GTF2H1 disease C0043346 AlteredExpression 0.1 disgenet
Xeroderma Pigmentosum TP53 disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum GTF2H2 disease C0043346 AlteredExpression 0.1 disgenet
Xeroderma Pigmentosum TP53 disease C0043346 AlteredExpression 0.1 disgenet
Xeroderma Pigmentosum TP53 disease C0043346 PosttranslationalModification 0.1 disgenet
Xeroderma Pigmentosum POLQ disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum NR1H2 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum POLQ disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum GTF2H4 disease C0043346 Biomarker 0.1 disgenet
Xeroderma Pigmentosum TP53 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum GTF2H1 disease C0043346 GeneticVariation 0.1 disgenet
Xeroderma Pigmentosum CAT disease C0043346 AlteredExpression 0.09 disgenet
Xeroderma Pigmentosum CAT disease C0043346 GeneticVariation 0.09 disgenet
Xeroderma Pigmentosum CAT disease C0043346 Biomarker 0.09 disgenet
Xeroderma Pigmentosum XRCC1 disease C0043346 GeneticVariation 0.08 disgenet
Xeroderma Pigmentosum XRCC1 disease C0043346 Biomarker 0.08 disgenet
Xeroderma Pigmentosum ERCC6 disease C0043346 Biomarker 0.04 disgenet
Xeroderma Pigmentosum ERCC6 disease C0043346 GeneticVariation 0.04 disgenet
Xeroderma Pigmentosum XRCC6P5 disease C0043346 Biomarker 0.04 disgenet
Xeroderma Pigmentosum CSH1 disease C0043346 GeneticVariation 0.04 disgenet
Xeroderma Pigmentosum XRCC6P5 disease C0043346 AlteredExpression 0.04 disgenet
Xeroderma Pigmentosum CSH1 disease C0043346 Biomarker 0.04 disgenet
Xeroderma Pigmentosum LIG4 disease C0043346 GeneticVariation 0.04 disgenet
Xeroderma Pigmentosum HPRT1 disease C0043346 GeneticVariation 0.04 disgenet
Xeroderma Pigmentosum HPRT1 disease C0043346 Biomarker 0.04 disgenet
Xeroderma Pigmentosum CSH2 disease C0043346 Biomarker 0.04 disgenet
Xeroderma Pigmentosum XRCC6P5 disease C0043346 GeneticVariation 0.04 disgenet
Xeroderma Pigmentosum CSH2 disease C0043346 GeneticVariation 0.04 disgenet
Xeroderma Pigmentosum LIG4 disease C0043346 Biomarker 0.04 disgenet
Xeroderma Pigmentosum PTEN disease C0043346 AlteredExpression 0.03 disgenet
Xeroderma Pigmentosum PTEN disease C0043346 Biomarker 0.03 disgenet
Xeroderma Pigmentosum OGG1 disease C0043346 AlteredExpression 0.03 disgenet
Xeroderma Pigmentosum PCNA disease C0043346 GeneticVariation 0.03 disgenet
Xeroderma Pigmentosum OGG1 disease C0043346 Biomarker 0.03 disgenet
Xeroderma Pigmentosum OGG1 disease C0043346 GeneticVariation 0.03 disgenet
Xeroderma Pigmentosum XRCC3 disease C0043346 GeneticVariation 0.03 disgenet
Xeroderma Pigmentosum PCNA disease C0043346 Biomarker 0.03 disgenet
Xeroderma Pigmentosum PTEN disease C0043346 GeneticVariation 0.03 disgenet
Xeroderma Pigmentosum ENDOV disease C0043346 Biomarker 0.03 disgenet
Xeroderma Pigmentosum CDKN2A disease C0043346 AlteredExpression 0.03 disgenet
Xeroderma Pigmentosum HPGDS disease C0043346 Biomarker 0.03 disgenet
Xeroderma Pigmentosum CDKN2A disease C0043346 GeneticVariation 0.03 disgenet
Xeroderma Pigmentosum HRAS disease C0043346 AlteredExpression 0.03 disgenet
Xeroderma Pigmentosum HPGDS disease C0043346 GeneticVariation 0.03 disgenet
Xeroderma Pigmentosum CDKN2A disease C0043346 Biomarker 0.03 disgenet
Xeroderma Pigmentosum HRAS disease C0043346 GeneticVariation 0.03 disgenet
Xeroderma Pigmentosum HSPA9 disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum SIRT1 disease C0043346 AlteredExpression 0.02 disgenet
Xeroderma Pigmentosum NRAS disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum SIRT1 disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum GSTM1 disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum RAD23A disease C0043346 AlteredExpression 0.02 disgenet
Xeroderma Pigmentosum GSTM1 disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum HSPA9 disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum DDB1 disease C0043346 AlteredExpression 0.02 disgenet
Xeroderma Pigmentosum CCNH disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum BCL2 disease C0043346 AlteredExpression 0.02 disgenet
Xeroderma Pigmentosum RAD23A disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum MC1R disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum NRAS disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum DDB1 disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum WDR76 disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum DECR1 disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum LCE2B disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum ATM disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum CCNH disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum ERCC8 disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum MC1R disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum ATM disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum ERCC8 disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum FUS disease C0043346 GeneticVariation 0.02 disgenet
Xeroderma Pigmentosum CHEK1 disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum ATR disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum BRIP1 disease C0043346 Biomarker 0.02 disgenet
Xeroderma Pigmentosum DECR1 disease C0043346 AlteredExpression 0.02 disgenet
Xeroderma Pigmentosum TYMS disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum KAT7 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum LRRC59 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum COMT disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum MYC disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum RNU1-1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum SLX4 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum ATF3 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum AKT1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum ST13 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum CRLF3 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum CDK4 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum IFI44 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum XRCC2 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum KIT disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum RAD23B disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum GSTT1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum MPO disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum TALDO1 disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum PRDX5 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum DEFB103A disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum UBE3B disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum H3P33 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum ZC3H12D disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum GADD45A disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum EGFR disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum PTCH1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum NCAM1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum CGA disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum SYCP1 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum RECQL disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum CETN2 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum BTN2A2 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum PTF1A disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum CATSPER1 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum FEN1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum IRF9 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum CDK7 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum SMO disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum STAT3 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum RNU2-1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum FAS disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum HERC2 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum ASIP disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum CYP1B1 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum AAGAB disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum VPS11 disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum RAD54L disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum DDX11 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum WDR77 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum USP7 disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum PDIK1L disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum EXO1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum PTAFR disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum DEFB103B disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum CSNK2A1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum LBR disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum APEX1 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum MAPK8 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum NAT1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum GOT1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum PRKDC disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum POMC disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum CRYZ disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum HGF disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum HFM1 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum BRCA1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum NPM1 disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum TDG disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum BRAF disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum TIMM8A disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum RTEL1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum GSTM2 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum NQO1 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum SMUG1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum MEPE disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum RNU1-4 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum H3P38 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum BAX disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum ODC1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum DDR1 disease C0043346 Biomarker 0.01 disgenet
Xeroderma Pigmentosum VEPH1 disease C0043346 GeneticVariation 0.01 disgenet
Xeroderma Pigmentosum XYLT2 disease C0043346 AlteredExpression 0.01 disgenet
Xeroderma Pigmentosum SULT1A1 disease C0043346 GeneticVariation 0.01 disgenet
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