CD8A, CD8a molecule, 925

N. diseases: 87; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918660
rs121918660
Entrez Id: 925
Gene Symbol: CD8A
CD8A
CUI: C1837065
Disease:
CD8 Deficiency, Familial 		0.800 GeneticVariation UNIPROT Familial CD8 deficiency due to a mutation in the CD8 alpha gene. 11435463 2001
dbSNP: rs121918660
rs121918660
Entrez Id: 925
Gene Symbol: CD8A
CD8A
CUI: C1837065
Disease:
CD8 Deficiency, Familial 		T 0.800 CausalMutation CLINVAR
dbSNP: rs111976570
rs111976570
Entrez Id: 925
Gene Symbol: CD8A
CD8A
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs3810831
rs3810831
Entrez Id: 925
Gene Symbol: CD8A
CD8A
CUI: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE Major allele homozygosity for CD8A (rs3810831) was associated with a higher frequency of affected relatives (p = 0.052), increased severity as characterized by age at diagnosis (p = 0.009), age at first surgery (p = 0.004), and number of surgeries (p = 0.008), whereas TAPBP (rs2282851) was associated increased risk for CRS (odds ratio [OR] = 2.48, p = 0.0076). 23640800 2013