Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dyskeratosis Congenita TINF2 disease C0265965 CausalMutation 0.9 orphanet , disgenet
Dyskeratosis Congenita TINF2 disease C0265965 Biomarker 0.9 orphanet , disgenet
Dyskeratosis Congenita DKC1 disease C0265965 AlteredExpression 0.9 orphanet , disgenet
Dyskeratosis Congenita TINF2 disease C0265965 GeneticVariation 0.9 orphanet , disgenet
Dyskeratosis Congenita DKC1 disease C0265965 GeneticVariation 0.9 orphanet , disgenet
Dyskeratosis Congenita DKC1 disease C0265965 CausalMutation 0.9 orphanet , disgenet
Dyskeratosis Congenita DKC1 disease C0265965 Biomarker 0.9 orphanet , disgenet
Dyskeratosis Congenita TERC disease C0265965 AlteredExpression 0.7 orphanet , disgenet
Dyskeratosis Congenita TERC disease C0265965 GeneticVariation 0.7 orphanet , disgenet
Dyskeratosis Congenita TERC disease C0265965 CausalMutation 0.7 orphanet , disgenet
Dyskeratosis Congenita TERC disease C0265965 Biomarker 0.7 orphanet , disgenet
Dyskeratosis Congenita RTEL1 disease C0265965 Biomarker 0.69 orphanet , disgenet
Dyskeratosis Congenita RTEL1 disease C0265965 CausalMutation 0.69 orphanet , disgenet
Dyskeratosis Congenita RTEL1 disease C0265965 GermlineCausalMutation 0.69 orphanet , disgenet
Dyskeratosis Congenita RTEL1 disease C0265965 GeneticVariation 0.69 orphanet , disgenet
Dyskeratosis Congenita PARN disease C0265965 CausalMutation 0.67 orphanet , disgenet
Dyskeratosis Congenita PARN disease C0265965 AlteredExpression 0.67 orphanet , disgenet
Dyskeratosis Congenita PARN disease C0265965 Biomarker 0.67 orphanet , disgenet
Dyskeratosis Congenita PARN disease C0265965 GermlineCausalMutation 0.67 orphanet , disgenet
Dyskeratosis Congenita PARN disease C0265965 GeneticVariation 0.67 orphanet , disgenet
Dyskeratosis Congenita WRAP53 disease C0265965 CausalMutation 0.65 orphanet , disgenet
Dyskeratosis Congenita WRAP53 disease C0265965 Biomarker 0.65 orphanet , disgenet
Dyskeratosis Congenita WRAP53 disease C0265965 GeneticVariation 0.65 orphanet , disgenet
Dyskeratosis Congenita CTC1 disease C0265965 GeneticVariation 0.64 orphanet , disgenet
Dyskeratosis Congenita CTC1 disease C0265965 CausalMutation 0.64 orphanet , disgenet
Dyskeratosis Congenita CTC1 disease C0265965 GermlineCausalMutation 0.64 orphanet , disgenet
Dyskeratosis Congenita CTC1 disease C0265965 Biomarker 0.64 orphanet , disgenet
Dyskeratosis Congenita TERT disease C0265965 AlteredExpression 0.6 orphanet , disgenet
Dyskeratosis Congenita TERT disease C0265965 GeneticVariation 0.6 orphanet , disgenet
Dyskeratosis Congenita TERT disease C0265965 Biomarker 0.6 orphanet , disgenet
Dyskeratosis Congenita USB1 disease C0265965 Biomarker 0.55 orphanet , disgenet
Dyskeratosis Congenita USB1 disease C0265965 GeneticVariation 0.55 orphanet , disgenet
Dyskeratosis Congenita USB1 disease C0265965 GermlineCausalMutation 0.55 orphanet , disgenet
Dyskeratosis Congenita NPM1 disease C0265965 GeneticVariation 0.51 orphanet , disgenet
Dyskeratosis Congenita NPM1 disease C0265965 Biomarker 0.51 orphanet , disgenet
Dyskeratosis Congenita NOP10 disease C0265965 CausalMutation 0.47 orphanet , disgenet
Dyskeratosis Congenita NOP10 disease C0265965 Biomarker 0.47 orphanet , disgenet
Dyskeratosis Congenita NOP10 disease C0265965 GeneticVariation 0.47 orphanet , disgenet
Dyskeratosis Congenita NHP2 disease C0265965 Biomarker 0.43 orphanet , disgenet
Dyskeratosis Congenita NHP2 disease C0265965 GeneticVariation 0.43 orphanet , disgenet
Dyskeratosis Congenita NHP2 disease C0265965 CausalMutation 0.43 orphanet , disgenet
Dyskeratosis Congenita GAR1 disease C0265965 Biomarker 0.32 disgenet
Dyskeratosis Congenita NAF1 disease C0265965 Biomarker 0.32 disgenet
Dyskeratosis Congenita NAF1 disease C0265965 GeneticVariation 0.32 disgenet
Dyskeratosis Congenita ACD disease C0265965 Biomarker 0.31 disgenet
Dyskeratosis Congenita STN1 disease C0265965 Biomarker 0.3 disgenet
Dyskeratosis Congenita TP53 disease C0265965 Biomarker 0.27 disgenet
Dyskeratosis Congenita TP53 disease C0265965 GeneticVariation 0.27 disgenet
Dyskeratosis Congenita TP53 disease C0265965 AlteredExpression 0.27 disgenet
Dyskeratosis Congenita RTEL1-TNFRSF6B disease C0265965 GeneticVariation 0.1 disgenet
Dyskeratosis Congenita RTEL1-TNFRSF6B disease C0265965 CausalMutation 0.1 disgenet
Dyskeratosis Congenita RMND5B disease C0265965 CausalMutation 0.1 disgenet
Dyskeratosis Congenita RPS19 disease C0265965 Biomarker 0.05 disgenet
Dyskeratosis Congenita RPS19 disease C0265965 GeneticVariation 0.05 disgenet
Dyskeratosis Congenita TERF1 disease C0265965 Biomarker 0.04 disgenet
Dyskeratosis Congenita TERF1 disease C0265965 GeneticVariation 0.04 disgenet
Dyskeratosis Congenita TPP1 disease C0265965 Biomarker 0.02 disgenet
Dyskeratosis Congenita CD34 disease C0265965 GeneticVariation 0.02 disgenet
Dyskeratosis Congenita SHQ1 disease C0265965 GeneticVariation 0.02 disgenet
Dyskeratosis Congenita CD34 disease C0265965 Biomarker 0.02 disgenet
Dyskeratosis Congenita RMRP disease C0265965 Biomarker 0.02 disgenet
Dyskeratosis Congenita TPP1 disease C0265965 GeneticVariation 0.02 disgenet
Dyskeratosis Congenita SHQ1 disease C0265965 Biomarker 0.02 disgenet
Dyskeratosis Congenita TPH1 disease C0265965 GeneticVariation 0.01 disgenet
Dyskeratosis Congenita EPO disease C0265965 AlteredExpression 0.01 disgenet
Dyskeratosis Congenita DNAJC21 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita GRHL2 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita SBDS disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita ETV6 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita CSF3 disease C0265965 GeneticVariation 0.01 disgenet
Dyskeratosis Congenita PUS7 disease C0265965 AlteredExpression 0.01 disgenet
Dyskeratosis Congenita GH1 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita ST14 disease C0265965 GeneticVariation 0.01 disgenet
Dyskeratosis Congenita KRT20 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita MS4A1 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita AR disease C0265965 GeneticVariation 0.01 disgenet
Dyskeratosis Congenita HPSE2 disease C0265965 PosttranslationalModification 0.01 disgenet
Dyskeratosis Congenita TRUB1 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita TBPL1 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita PPP1R1A disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita TERF2 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita CBX3 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita AK6 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita ATR disease C0265965 GeneticVariation 0.01 disgenet
Dyskeratosis Congenita RNPC3 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita LOH19CR1 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita RUNX1 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita CSF2 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita PRDM8 disease C0265965 PosttranslationalModification 0.01 disgenet
Dyskeratosis Congenita TECR disease C0265965 AlteredExpression 0.01 disgenet
Dyskeratosis Congenita BRIP1 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita RNA28SN5 disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita DDX11 disease C0265965 GeneticVariation 0.01 disgenet
Dyskeratosis Congenita MLIP disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita TENT4B disease C0265965 Biomarker 0.01 disgenet
Dyskeratosis Congenita HBG2 disease C0265965 GeneticVariation 0.01 disgenet
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