Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Contiguous Abcd1-Dxs1375e Deletion Syndrome BCAP31 disease C1845408 ChromosomalRearrangement 0.51 orphanet , disgenet
Contiguous Abcd1-Dxs1375e Deletion Syndrome BCAP31 disease C1845408 GermlineCausalMutation 0.51 orphanet , disgenet
Contiguous Abcd1-Dxs1375e Deletion Syndrome BCAP31 disease C1845408 GeneticVariation 0.51 orphanet , disgenet
Contiguous Abcd1-Dxs1375e Deletion Syndrome BCAP31 disease C1845408 Biomarker 0.51 orphanet , disgenet
Contiguous Abcd1-Dxs1375e Deletion Syndrome ABCD1 disease C1845408 Biomarker 0.31 orphanet , disgenet
Contiguous Abcd1-Dxs1375e Deletion Syndrome ABCD1 disease C1845408 ChromosomalRearrangement 0.31 orphanet , disgenet
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