PRKCA, protein kinase C alpha, 5578

N. diseases: 368; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8074995
rs8074995
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0009241
Disease:
Cognition Disorders
0.010 GeneticVariation BEFREE Three polymorphisms (GRIN2B rs220599, GRM3 rs2189814 and PRKCA rs8074995) were associated with episodic verbal memory in both control and patients with cognitive deficit, but not in cognitively spared patients or the pooled schizophrenia sample. 21281445 2011
dbSNP: rs8074995
rs8074995
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0542476
Disease:
Forgetful
0.010 GeneticVariation BEFREE Single nucleotide polymorphism (SNP) rs8074995 lies within the PRKCA region spanned by a rare haplotype associated with schizophrenia in a recent UK study and provides further evidence of PRKCA contribution to memory impairment and susceptibility to schizophrenia. 21281445 2011
dbSNP: rs11079657
rs11079657
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Similarly, eight SNPs had unadjusted association p values < 0.05 for asthma in both populations, with one SNP remaining significant after adjustment for multiple comparisons (rs11079657, joint p value = 2.6 x 10(-)(5)). 19576566 2009
dbSNP: rs7342847
rs7342847
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Of these, PRKCA rs7342847 and TLK2 rs2245092 and rs733025 were also associated with hormone receptor-positive breast cancer: PRKCA rs7342847 (odds ratio, 0.7; 95% confidence interval, 0.6-0.9; P(trend) = 0.002) and TLK2 rs733025 and rs2245092 (both: odds ratio, 0.8; 95% confidence interval, 0.7-1.0; P(trend) = 0.03). 19454617 2009
dbSNP: rs7342847
rs7342847
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Of these, PRKCA rs7342847 and TLK2 rs2245092 and rs733025 were also associated with hormone receptor-positive breast cancer: PRKCA rs7342847 (odds ratio, 0.7; 95% confidence interval, 0.6-0.9; P(trend) = 0.002) and TLK2 rs733025 and rs2245092 (both: odds ratio, 0.8; 95% confidence interval, 0.7-1.0; P(trend) = 0.03). 19454617 2009
dbSNP: rs121917733
rs121917733
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0007133
Disease:
Carcinoma, Papillary
0.010 GeneticVariation BEFREE None of the 57 follicular adenomas, 26 papillary carcinomas (PCs), 7 follicular carcinomas, or the anaplastic carcinoma harbored the PKCalpha 881A>G mutation. 11994357 2002