Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031192
Disease: Persistent Ostium Primum
Persistent Ostium Primum
0.300 Biomarker disease CTD_human Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006