PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 139; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
0.300 Biomarker group CTD_human Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
0.300 Biomarker group CTD_human Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2004