Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Menkes Kinky Hair Syndrome ATP7A disease C0022716 CausalMutation 1 orphanet , disgenet
Menkes Kinky Hair Syndrome ATP7A disease C0022716 GeneticVariation 1 orphanet , disgenet
Menkes Kinky Hair Syndrome ATP7A disease C0022716 AlteredExpression 1 orphanet , disgenet
Menkes Kinky Hair Syndrome ATP7A disease C0022716 Biomarker 1 orphanet , disgenet
Menkes Kinky Hair Syndrome CP disease C0022716 AlteredExpression 0.33 disgenet
Menkes Kinky Hair Syndrome CP disease C0022716 Biomarker 0.33 disgenet
Menkes Kinky Hair Syndrome LOX disease C0022716 Biomarker 0.23 disgenet
Menkes Kinky Hair Syndrome LOX disease C0022716 AlteredExpression 0.23 disgenet
Menkes Kinky Hair Syndrome PGK1 disease C0022716 CausalMutation 0.12 disgenet
Menkes Kinky Hair Syndrome PGK1 disease C0022716 GeneticVariation 0.12 disgenet
Menkes Kinky Hair Syndrome PGK1 disease C0022716 Biomarker 0.12 disgenet
Menkes Kinky Hair Syndrome ATP7B disease C0022716 GeneticVariation 0.08 disgenet
Menkes Kinky Hair Syndrome ATP7B disease C0022716 Biomarker 0.08 disgenet
Menkes Kinky Hair Syndrome ATOX1 disease C0022716 GeneticVariation 0.03 disgenet
Menkes Kinky Hair Syndrome DBH disease C0022716 AlteredExpression 0.02 disgenet
Menkes Kinky Hair Syndrome DBH disease C0022716 Biomarker 0.02 disgenet
Menkes Kinky Hair Syndrome CD38 disease C0022716 GeneticVariation 0.02 disgenet
Menkes Kinky Hair Syndrome GYPA disease C0022716 GeneticVariation 0.01 disgenet
Menkes Kinky Hair Syndrome COMMD1 disease C0022716 Biomarker 0.01 disgenet
Menkes Kinky Hair Syndrome PART1 disease C0022716 GeneticVariation 0.01 disgenet
Menkes Kinky Hair Syndrome MKNK1 disease C0022716 Biomarker 0.01 disgenet
Menkes Kinky Hair Syndrome PAM disease C0022716 Biomarker 0.01 disgenet
Menkes Kinky Hair Syndrome GCK disease C0022716 Biomarker 0.01 disgenet
Menkes Kinky Hair Syndrome DNAH8 disease C0022716 GeneticVariation 0.01 disgenet
Menkes Kinky Hair Syndrome MUC2 disease C0022716 GeneticVariation 0.01 disgenet
Menkes Kinky Hair Syndrome GYPB disease C0022716 GeneticVariation 0.01 disgenet
Menkes Kinky Hair Syndrome FBN2 disease C0022716 Biomarker 0.01 disgenet
Menkes Kinky Hair Syndrome CXCR5 disease C0022716 Biomarker 0.01 disgenet
Menkes Kinky Hair Syndrome PTN disease C0022716 Biomarker 0.01 disgenet
Menkes Kinky Hair Syndrome CREBBP NA C0022716 NA NA orphanet
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