Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Schwartz-Lelek syndrome | ANKH | disease | C0265292 | GermlineCausalMutation | 0.38 | orphanet , disgenet |
Schwartz-Lelek syndrome | ANKH | disease | C0265292 | Biomarker | 0.38 | orphanet , disgenet |
Schwartz-Lelek syndrome | ANKH | disease | C0265292 | GeneticVariation | 0.38 | orphanet , disgenet |
Schwartz-Lelek syndrome | GJA1 | disease | C0265292 | GeneticVariation | 0.31 | orphanet , disgenet |
Schwartz-Lelek syndrome | GJA1 | disease | C0265292 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
Schwartz-Lelek syndrome | ANK1 | disease | C0265292 | GeneticVariation | 0.04 | disgenet |
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