Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypotrichosis-Lymphedema-Telangiectasia Syndrome SOX18 disease C1843004 GeneticVariation 0.76 orphanet , disgenet
Hypotrichosis-Lymphedema-Telangiectasia Syndrome SOX18 disease C1843004 Biomarker 0.76 orphanet , disgenet
Hypotrichosis-Lymphedema-Telangiectasia Syndrome SOX18 disease C1843004 CausalMutation 0.76 orphanet , disgenet
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