ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
0.300 Biomarker phenotype CTD_human Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. 25664129 2014