CD8A, CD8a molecule, 925

N. diseases: 87; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837065
Disease: CD8 Deficiency, Familial
CD8 Deficiency, Familial 		0.700 GeneticVariation disease UNIPROT Familial CD8 deficiency due to a mutation in the CD8 alpha gene. 11435463 2001
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.040 GeneticVariation disease BEFREE The first exons of two genes, Leu1 and Leu2, mapped in a minimally deleted 13q14.3 region, are systematically lost in B-CLL sharing a 13q14.3 deletion. 10516767 1999
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.030 GeneticVariation disease BEFREE The first exons of two genes, Leu1 and Leu2, mapped in a minimally deleted 13q14.3 region, are systematically lost in B-CLL sharing a 13q14.3 deletion. 10516767 1999
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 GeneticVariation disease BEFREE Among unrelated individuals with rheumatoid arthritis (RA) and controls, there is no evidence of allelic association between CD8A and polymorphic markers of the immunoglobulin kappa region [a V kappa (IGKV) BglII polymorphism about 24 kb centromeric to C kappa, Km allotype, and a SacI polymorphism 3.5 kb telomeric to the C kappa segment]. 1349568 1992
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 GeneticVariation disease BEFREE Although the frequencies of B3, Km, and CD8A genotypes were not different between RA and normal control populations, more individuals were homozygous for both C kappa and B3 in the RA group (relative risk 2.2, P less than 0.01), especially in the DR4-negative RA subgroup (relative risk 3.9, P less than 0.001). 1731812 1992
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.020 GeneticVariation disease BEFREE Molecular analysis of the CD8 gene in multiple sclerosis. 2950132 1987
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations. 18676636 2008
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 GeneticVariation disease BEFREE In this study, we evaluated the characteristics of the novel RASs observed in treatment-failure patients, A92K and a deletion at P32 (P32del), and the susceptibility of viruses with these RASs to various anti-HCV reagents by using JFH-1 based recombinant HCV with NS5A from a genotype 1b Con1 strain (JFH1/5ACon1). 30952914 2019
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.010 GeneticVariation disease BEFREE On the basis of frequency and prognosis, AMKL can be classified to 3 risk groups: good risk-7p abnormalities; poor risk-normal karyotypes, -7, 9p abnormalities including t(9;11)(p22;q23)/MLL-MLLT3, -13/13q-, and -15; and intermediate risk-others including t(1;22)(p13;q13)/OTT-MAL (RBM15-MKL1) and 11q23/MLL except t(9;11). 26215111 2015
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 GeneticVariation disease BEFREE The genotype distribution was 10.34% TT, 44.8% TC, and 44.8% CC, whereas in the normal controls it was 3.77% TT, 13.2% TC, and 83.01% CC, and most meningiomas with 1 p32 deletion retained allele C. Another polymorphism due to a T-->C change was evidenced at nt 3008, in the 3' untranslated region. 10326867 1999
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 GeneticVariation disease BEFREE Prognostic relevance of genetic alterations in the p32 region of chromosome 1 in neuroblastoma. 9516838 1997
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		0.010 GeneticVariation group BEFREE We report here the comprehensive immunological evaluation of a child with a CD8A missense mutation, providing evidence that CD8 deficiency increases susceptibility to recurrent respiratory infections without interfering with the TCR-mediated proliferation of T cells. 26563160 2015
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis 		0.010 GeneticVariation disease BEFREE CD8A gene polymorphisms predict severity factors in chronic rhinosinusitis. 23640800 2013
CUI: C0206182
Disease: Lymphomatoid Papulosis
Lymphomatoid Papulosis 		0.010 GeneticVariation disease BEFREE Histopathologic analyses demonstrated classic LyP type A (n = 69), B (n = 13), or C (n = 6), and a slight predominance of T-cell CD8 marker expression for type A. 21982062 2012
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.010 GeneticVariation disease BEFREE For the remaining tumor types, compared with TIMT II (low PD-L1 and CD8A/CYT), TIMT I (high PD-L1 and CD8A/CYT) had a significantly higher number of mutations or neoantigens in bladder urothelial carcinoma, breast and cervical cancer, colorectal, stomach and lung adenocarcinoma, and melanoma. 28912897 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 GeneticVariation disease BEFREE Prognostic relevance of genetic alterations in the p32 region of chromosome 1 in neuroblastoma. 9516838 1997
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 GeneticVariation disease BEFREE Prognostic relevance of genetic alterations in the p32 region of chromosome 1 in neuroblastoma. 9516838 1997
CUI: C1837065
Disease: CD8 Deficiency, Familial
CD8 Deficiency, Familial 		0.700 Biomarker disease CTD_human
CUI: C1837065
Disease: CD8 Deficiency, Familial
CD8 Deficiency, Familial 		0.700 Biomarker disease GENOMICS_ENGLAND Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. 17658607 2008
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.310 Biomarker disease CTD_human CD8+ T cells contribute to macrophage accumulation and airspace enlargement following repeated irritant exposure. 17950725 2007
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.310 Biomarker disease LHGDN CD8+ T cells contribute to macrophage accumulation and airspace enlargement following repeated irritant exposure. 17950725 2007
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction 		0.300 Biomarker disease CTD_human CD8+ T cells contribute to macrophage accumulation and airspace enlargement following repeated irritant exposure. 17950725 2007