Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Craniofacial deafness hand syndrome | PAX3 | disease | C1852510 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
Craniofacial deafness hand syndrome | PAX3 | disease | C1852510 | CausalMutation | 0.71 | orphanet , disgenet |
Craniofacial deafness hand syndrome | PAX3 | disease | C1852510 | GeneticVariation | 0.71 | orphanet , disgenet |
Craniofacial deafness hand syndrome | PAX3 | disease | C1852510 | Biomarker | 0.71 | orphanet , disgenet |
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