PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Disease: Congenital small ears ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012