Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.320 Biomarker GENOMICS_ENGLAND Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 25683117

2015