Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Creatine deficiency, X-linked SLC6A8 disease C1845862 CausalMutation 1 orphanet , disgenet
Creatine deficiency, X-linked SLC6A8 disease C1845862 GeneticVariation 1 orphanet , disgenet
Creatine deficiency, X-linked SLC6A8 disease C1845862 Biomarker 1 orphanet , disgenet
Creatine deficiency, X-linked GATM disease C1845862 Biomarker 0.12 disgenet
Creatine deficiency, X-linked GATM disease C1845862 CausalMutation 0.12 disgenet
Creatine deficiency, X-linked GATM disease C1845862 GeneticVariation 0.12 disgenet
Creatine deficiency, X-linked GAMT disease C1845862 Biomarker 0.11 disgenet
Creatine deficiency, X-linked GAMT disease C1845862 CausalMutation 0.11 disgenet
Creatine deficiency, X-linked PNCK disease C1845862 CausalMutation 0.1 disgenet
Creatine deficiency, X-linked DLG3 disease C1845862 GeneticVariation 0.01 disgenet
Creatine deficiency, X-linked ABCG2 disease C1845862 GeneticVariation 0.01 disgenet
Creatine deficiency, X-linked CALCR disease C1845862 GeneticVariation 0.01 disgenet
Creatine deficiency, X-linked CALR disease C1845862 GeneticVariation 0.01 disgenet
Creatine deficiency, X-linked BCAP31 disease C1845862 Biomarker 0.01 disgenet
Creatine deficiency, X-linked POU3F3 disease C1845862 Biomarker 0.01 disgenet
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