Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Trichothiodystrophy Syndrome ERCC2 disease C1955934 AlteredExpression 0.9 orphanet , disgenet
Trichothiodystrophy Syndrome ERCC2 disease C1955934 GeneticVariation 0.9 orphanet , disgenet
Trichothiodystrophy Syndrome ERCC2 disease C1955934 Biomarker 0.9 orphanet , disgenet
Trichothiodystrophy Syndrome ERCC2 disease C1955934 GermlineCausalMutation 0.9 orphanet , disgenet
Trichothiodystrophy Syndrome ERCC3 disease C1955934 GermlineCausalMutation 0.6 orphanet , disgenet
Trichothiodystrophy Syndrome ERCC3 disease C1955934 GeneticVariation 0.6 orphanet , disgenet
Trichothiodystrophy Syndrome ERCC3 disease C1955934 AlteredExpression 0.6 orphanet , disgenet
Trichothiodystrophy Syndrome ERCC3 disease C1955934 Biomarker 0.6 orphanet , disgenet
Trichothiodystrophy Syndrome MPLKIP disease C1955934 GeneticVariation 0.55 orphanet , disgenet
Trichothiodystrophy Syndrome MPLKIP disease C1955934 GermlineCausalMutation 0.55 orphanet , disgenet
Trichothiodystrophy Syndrome MPLKIP disease C1955934 Biomarker 0.55 orphanet , disgenet
Trichothiodystrophy Syndrome GTF2H5 disease C1955934 GeneticVariation 0.4 orphanet , disgenet
Trichothiodystrophy Syndrome GTF2H5 disease C1955934 Biomarker 0.4 orphanet , disgenet
Trichothiodystrophy Syndrome GTF2H5 disease C1955934 AlteredExpression 0.4 orphanet , disgenet
Trichothiodystrophy Syndrome GTF2H5 disease C1955934 GermlineCausalMutation 0.4 orphanet , disgenet
Trichothiodystrophy Syndrome GTF2E2 disease C1955934 GermlineCausalMutation 0.32 orphanet , disgenet
Trichothiodystrophy Syndrome RNF113A disease C1955934 GermlineCausalMutation 0.32 orphanet , disgenet
Trichothiodystrophy Syndrome GTF2E2 disease C1955934 GeneticVariation 0.32 orphanet , disgenet
Trichothiodystrophy Syndrome RNF113A disease C1955934 Biomarker 0.32 orphanet , disgenet
Trichothiodystrophy Syndrome RNF113A disease C1955934 GeneticVariation 0.32 orphanet , disgenet
Trichothiodystrophy Syndrome GTF2H4 disease C1955934 GeneticVariation 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H4 disease C1955934 Biomarker 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H4 disease C1955934 AlteredExpression 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H3 disease C1955934 AlteredExpression 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H3 disease C1955934 Biomarker 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H3 disease C1955934 GeneticVariation 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H2 disease C1955934 GeneticVariation 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H1 disease C1955934 GeneticVariation 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H1 disease C1955934 Biomarker 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H2 disease C1955934 Biomarker 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H2 disease C1955934 AlteredExpression 0.1 disgenet
Trichothiodystrophy Syndrome GTF2H1 disease C1955934 AlteredExpression 0.1 disgenet
Trichothiodystrophy Syndrome XPC disease C1955934 Biomarker 0.03 disgenet
Trichothiodystrophy Syndrome NR1H2 disease C1955934 Biomarker 0.03 disgenet
Trichothiodystrophy Syndrome NR1H2 disease C1955934 GeneticVariation 0.03 disgenet
Trichothiodystrophy Syndrome TP53 disease C1955934 Biomarker 0.03 disgenet
Trichothiodystrophy Syndrome HNF1B disease C1955934 GeneticVariation 0.02 disgenet
Trichothiodystrophy Syndrome HSP90B2P disease C1955934 AlteredExpression 0.01 disgenet
Trichothiodystrophy Syndrome CDK7 disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome XPA disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome COL6A1 disease C1955934 AlteredExpression 0.01 disgenet
Trichothiodystrophy Syndrome IFI44 disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome CHEK1 disease C1955934 Biomarker 0.01 disgenet
Trichothiodystrophy Syndrome CAT disease C1955934 AlteredExpression 0.01 disgenet
Trichothiodystrophy Syndrome ERCC6 disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome WDR77 disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome DDR1 disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome ICAM1 disease C1955934 Biomarker 0.01 disgenet
Trichothiodystrophy Syndrome MMP1 disease C1955934 Biomarker 0.01 disgenet
Trichothiodystrophy Syndrome HBB disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome H3P33 disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome SIRT1 disease C1955934 Biomarker 0.01 disgenet
Trichothiodystrophy Syndrome CCNH disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome SREBF1 disease C1955934 GeneticVariation 0.01 disgenet
Trichothiodystrophy Syndrome LBR disease C1955934 Biomarker 0.01 disgenet
Trichothiodystrophy Syndrome PPARGC1A disease C1955934 Biomarker 0.01 disgenet
Trichothiodystrophy Syndrome TARS1 NA C1955934 NA NA orphanet
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