HK1, hexokinase 1, 3098

N. diseases: 161; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
0.300 Biomarker phenotype GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017