PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Disease: Auriculocondylar syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 CausalMutation disease CLINVAR A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 Biomarker disease HPO
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 Biomarker disease CTD_human
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		0.600 Biomarker disease GENOMICS_ENGLAND