Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Gitelman Syndrome SLC12A3 disease C0268450 Biomarker 0.9 orphanet , disgenet
Gitelman Syndrome SLC12A3 disease C0268450 GermlineCausalMutation 0.9 orphanet , disgenet
Gitelman Syndrome SLC12A3 disease C0268450 GeneticVariation 0.9 orphanet , disgenet
Gitelman Syndrome SLC12A3 disease C0268450 AlteredExpression 0.9 orphanet , disgenet
Gitelman Syndrome CLCNKB disease C0268450 GeneticVariation 0.4 orphanet , disgenet
Gitelman Syndrome CLCNKB disease C0268450 GermlineCausalMutation 0.4 orphanet , disgenet
Gitelman Syndrome CLCNKB disease C0268450 Biomarker 0.4 orphanet , disgenet
Gitelman Syndrome WNK4 disease C0268450 Biomarker 0.2 disgenet
Gitelman Syndrome STK39 disease C0268450 Biomarker 0.2 disgenet
Gitelman Syndrome REN disease C0268450 Biomarker 0.05 disgenet
Gitelman Syndrome REN disease C0268450 AlteredExpression 0.05 disgenet
Gitelman Syndrome TSC1 disease C0268450 Biomarker 0.03 disgenet
Gitelman Syndrome TSC1 disease C0268450 GeneticVariation 0.03 disgenet
Gitelman Syndrome KCNJ1 disease C0268450 GeneticVariation 0.03 disgenet
Gitelman Syndrome KCNJ1 disease C0268450 Biomarker 0.03 disgenet
Gitelman Syndrome TESC disease C0268450 Biomarker 0.03 disgenet
Gitelman Syndrome TESC disease C0268450 GeneticVariation 0.03 disgenet
Gitelman Syndrome AGT disease C0268450 Biomarker 0.02 disgenet
Gitelman Syndrome AGT disease C0268450 AlteredExpression 0.02 disgenet
Gitelman Syndrome PTH disease C0268450 Biomarker 0.02 disgenet
Gitelman Syndrome PTGS2 disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome DMD disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome PVALB disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome IGAN1 disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome DBP disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome PPP1R12A disease C0268450 PosttranslationalModification 0.01 disgenet
Gitelman Syndrome PVALB disease C0268450 GeneticVariation 0.01 disgenet
Gitelman Syndrome TRPV5 disease C0268450 GeneticVariation 0.01 disgenet
Gitelman Syndrome CABIN1 disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome NOS3 disease C0268450 AlteredExpression 0.01 disgenet
Gitelman Syndrome SLC12A1 disease C0268450 GeneticVariation 0.01 disgenet
Gitelman Syndrome BEST1 disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome ARHGEF25 disease C0268450 GeneticVariation 0.01 disgenet
Gitelman Syndrome ACTB disease C0268450 Biomarker 0.01 disgenet
Gitelman Syndrome SCN5A disease C0268450 GeneticVariation 0.01 disgenet
Gitelman Syndrome RGS2 disease C0268450 AlteredExpression 0.01 disgenet
Gitelman Syndrome CASR disease C0268450 GeneticVariation 0.01 disgenet
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