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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