Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cockayne Syndrome ERCC6 disease C0009207 AlteredExpression 0.9 orphanet , disgenet
Cockayne Syndrome ERCC6 disease C0009207 Biomarker 0.9 orphanet , disgenet
Cockayne Syndrome ERCC6 disease C0009207 GeneticVariation 0.9 orphanet , disgenet
Cockayne Syndrome ERCC8 disease C0009207 GeneticVariation 0.8 orphanet , disgenet
Cockayne Syndrome ERCC8 disease C0009207 Biomarker 0.8 orphanet , disgenet
Cockayne Syndrome SPRTN disease C0009207 GeneticVariation 0.31 orphanet , disgenet
Cockayne Syndrome SPRTN disease C0009207 Biomarker 0.31 orphanet , disgenet
Cockayne Syndrome SOS1 disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome ATR disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome RAF1 disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome PTPN11 disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome CEP63 disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome KRAS disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome LZTR1 disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome RIT1 disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome CENPJ disease C0009207 Biomarker 0.2 disgenet
Cockayne Syndrome ERCC1 disease C0009207 GeneticVariation 0.14 orphanet , disgenet
Cockayne Syndrome ERCC1 disease C0009207 CausalMutation 0.14 orphanet , disgenet
Cockayne Syndrome ERCC1 disease C0009207 Biomarker 0.14 orphanet , disgenet
Cockayne Syndrome ERCC4 disease C0009207 GeneticVariation 0.13 orphanet , disgenet
Cockayne Syndrome ERCC4 disease C0009207 Biomarker 0.13 orphanet , disgenet
Cockayne Syndrome ERCC4 disease C0009207 CausalMutation 0.13 orphanet , disgenet
Cockayne Syndrome LMNA disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome GTF2H3 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome GTF2H3 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome HSPA9 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome NR1H2 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome CSH2 disease C0009207 AlteredExpression 0.1 disgenet
Cockayne Syndrome CSH2 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome HSPA9 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome CSH2 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome GTF2H2 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome ERCC3 disease C0009207 AlteredExpression 0.1 orphanet , disgenet
Cockayne Syndrome ERCC5 disease C0009207 GeneticVariation 0.1 orphanet , disgenet
Cockayne Syndrome ERCC2 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome NR1H2 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome GTF2H2 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome CSH1 disease C0009207 AlteredExpression 0.1 disgenet
Cockayne Syndrome LMNA disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome GTF2H1 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome ERCC5 disease C0009207 AlteredExpression 0.1 orphanet , disgenet
Cockayne Syndrome NR1H2 disease C0009207 AlteredExpression 0.1 disgenet
Cockayne Syndrome GTF2H1 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome GTF2H5 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome GTF2H5 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome ERCC2 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome ERCC3 disease C0009207 Biomarker 0.1 orphanet , disgenet
Cockayne Syndrome CSH1 disease C0009207 GeneticVariation 0.1 disgenet
Cockayne Syndrome ERCC5 disease C0009207 Biomarker 0.1 orphanet , disgenet
Cockayne Syndrome ERCC3 disease C0009207 GeneticVariation 0.1 orphanet , disgenet
Cockayne Syndrome CSH1 disease C0009207 Biomarker 0.1 disgenet
Cockayne Syndrome GTF2H4 disease C0009207 GeneticVariation 0.09 disgenet
Cockayne Syndrome GTF2H4 disease C0009207 Biomarker 0.09 disgenet
Cockayne Syndrome WRN disease C0009207 GeneticVariation 0.05 disgenet
Cockayne Syndrome WRN disease C0009207 Biomarker 0.05 disgenet
Cockayne Syndrome TP53 disease C0009207 GeneticVariation 0.04 disgenet
Cockayne Syndrome TP53 disease C0009207 Biomarker 0.04 disgenet
Cockayne Syndrome TP53 disease C0009207 AlteredExpression 0.04 disgenet
Cockayne Syndrome XPC disease C0009207 GeneticVariation 0.03 disgenet
Cockayne Syndrome ZMPSTE24 disease C0009207 Biomarker 0.03 disgenet
Cockayne Syndrome ZMPSTE24 disease C0009207 GeneticVariation 0.03 disgenet
Cockayne Syndrome BANF1 disease C0009207 GeneticVariation 0.03 disgenet
Cockayne Syndrome XPC disease C0009207 Biomarker 0.03 disgenet
Cockayne Syndrome SMARCA1 disease C0009207 Biomarker 0.02 disgenet
Cockayne Syndrome HFM1 disease C0009207 GeneticVariation 0.02 disgenet
Cockayne Syndrome SMARCA1 disease C0009207 GeneticVariation 0.02 disgenet
Cockayne Syndrome GLB1 disease C0009207 AlteredExpression 0.02 disgenet
Cockayne Syndrome CAT disease C0009207 AlteredExpression 0.02 disgenet
Cockayne Syndrome XPA disease C0009207 Biomarker 0.02 disgenet
Cockayne Syndrome UVSSA disease C0009207 Biomarker 0.02 disgenet
Cockayne Syndrome CAT disease C0009207 Biomarker 0.02 disgenet
Cockayne Syndrome ROBO3 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome GYPB disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome GYPA disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome OGG1 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome CDCA8 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome RAD51 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome APEX1 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome ADA disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome EYA1 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome FEN1 disease C0009207 AlteredExpression 0.01 disgenet
Cockayne Syndrome SYT9 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome TRBV20OR9-2 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome ENDOV disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome ABCB1 disease C0009207 AlteredExpression 0.01 disgenet
Cockayne Syndrome AMPD1 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome SMARCA2 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome BDNF disease C0009207 AlteredExpression 0.01 disgenet
Cockayne Syndrome BRCA2 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome POLD1 disease C0009207 GeneticVariation 0.01 orphanet , disgenet
Cockayne Syndrome HDAC9 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome IFNB1 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome ATF3 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome GYPE disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome NEFM disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome DHFR disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome CHEK1 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome RAD52 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome AFP disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome MDM2 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome PYCR1 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome PTH disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome KL disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome DCN disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome B4GALT7 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome USP7 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome ALPL disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome BLM disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome SMARCA4 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome HTRA3 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome BTN2A2 disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome TBC1D9 disease C0009207 AlteredExpression 0.01 disgenet
Cockayne Syndrome MT2A disease C0009207 AlteredExpression 0.01 disgenet
Cockayne Syndrome SIRT1 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome XAB2 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome MAPK8 disease C0009207 Biomarker 0.01 disgenet
Cockayne Syndrome POLR3A disease C0009207 GeneticVariation 0.01 disgenet
Cockayne Syndrome PARP1 disease C0009207 AlteredExpression 0.01 disgenet
Cockayne Syndrome SLC25A24 NA C0009207 NA NA orphanet
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