MS4A4A, membrane spanning 4-domains A4A, 51338

N. diseases: 21; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease BEFREE The total number of CGS-derived CpG dinucleotides in the window near MS4A4A was associated with AD risk (p = 2.67 × 10<sup>-10</sup> ), brain DNA methylation (p = 2.15 × 10<sup>-10</sup> ), and gene expression in brain (p = 0.03) and blood (p = 2.53 × 10<sup>-4</sup> ). 31144443 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease BEFREE Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes. 28199971 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease GWASCAT A novel Alzheimer disease locus located near the gene encoding tau protein. 25778476 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 Biomarker disease BEFREE Our findings suggest that APOE-ε4, CLU and MS4A4A influence both AD risk and CSF Aβ1-42. 23573206 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease GWASDB The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. 21627779 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease GWASCAT The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. 21627779 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.430 GeneticVariation disease GWASCAT Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.310 GeneticVariation disease BEFREE The LOAD-protective CLU and risky MS4A4A locus alleles associate with higher brain levels of these genes. 22722634 2012
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.310 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.300 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.300 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.300 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018