PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Disease: AURICULOCONDYLAR SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 CausalMutation disease CLINVAR Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 23315542 2013
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 GeneticVariation disease UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		0.600 GeneticVariation disease CLINVAR