CDK5, cyclin dependent kinase 5, 1020

N. diseases: 204; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2069443
rs2069443
Entrez Id: 1020;6522
Gene Symbol: CDK5;SLC4A2
CDK5;SLC4A2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs786205164
rs786205164
Entrez Id: 1020
Gene Symbol: CDK5
CDK5
CUI: C4225359
Disease:
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs2069443
rs2069443
Entrez Id: 1020;6522
Gene Symbol: CDK5;SLC4A2
CDK5;SLC4A2
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.010 GeneticVariation BEFREE In addition, the CTLA4 rs231777 SNP and haplotype 3 (ATGG) was significantly associated with anti-gp210 antibody production, while SLC4A2 haplotype 4 (rs2069443 A, rs2303933 G, rs2303937 A, rs2303941 T; AGAT) and haplotype 3 (AAGC) were significantly associated with PBC susceptibility and anti-centromere antibody production, respectively. 21594562 2011
dbSNP: rs2069442
rs2069442
Entrez Id: 1020;6522
Gene Symbol: CDK5;SLC4A2
CDK5;SLC4A2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE In our analysis, the haplotype tagged by the G allele of SNP rs2069442 was significantly associated with AD (p = 0.05). 18350355 2008