PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		A 0.800 CausalMutation CLINVAR Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 23315542 2013
dbSNP: rs387907179
rs387907179
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		0.800 GeneticVariation UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
dbSNP: rs397514480
rs397514480
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		0.800 GeneticVariation UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		0.800 GeneticVariation UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
dbSNP: rs397514482
rs397514482
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		0.800 GeneticVariation UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
dbSNP: rs397514483
rs397514483
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		0.800 GeneticVariation UNIPROT A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
dbSNP: rs2072910
rs2072910
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0200633
Disease:
Neutrophil count (procedure) 		C 0.800 GeneticVariation GWASCAT The subjects who were homozygous for 'neutrophil-increasing alleles' in both of the SNPs (T alleles for rs4794822 and rs2072910) had 1.17-fold (95% confidence interval: 1.10-1.24) higher neutrophil count when compared with the subjects homozygous for 'neutrophil-decreasing alleles' (C alleles for rs4794822 and rs2072910). 20172861 2010
dbSNP: rs2072910
rs2072910
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0200633
Disease:
Neutrophil count (procedure) 		C 0.800 GeneticVariation GWASDB The subjects who were homozygous for 'neutrophil-increasing alleles' in both of the SNPs (T alleles for rs4794822 and rs2072910) had 1.17-fold (95% confidence interval: 1.10-1.24) higher neutrophil count when compared with the subjects homozygous for 'neutrophil-decreasing alleles' (C alleles for rs4794822 and rs2072910). 20172861 2010
dbSNP: rs387907179
rs387907179
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397514480
rs397514480
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514482
rs397514482
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514483
rs397514483
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C3553404
Disease:
AURICULOCONDYLAR SYNDROME 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs2327129
rs2327129
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2299682
rs2299682
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0005586
Disease:
Bipolar Disorder 		0.700 GeneticVariation GWASCAT Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. 29064472 2017
dbSNP: rs2299682
rs2299682
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. 29064472 2017
dbSNP: rs2299682
rs2299682
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0036337
Disease:
Schizoaffective Disorder 		0.700 GeneticVariation GWASCAT Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. 29064472 2017
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. 28328130 2017
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. 28328130 2017
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. 28328130 2017
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. 27007857 2016
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. 27007857 2016
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. 27007857 2016
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 23315542 2013
dbSNP: rs397514481
rs397514481
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 23315542 2013