PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Disease: Atrial Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.400 Biomarker group CTD_human Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.400 Biomarker group HPO