| 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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