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: 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: 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 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: 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: C0162534
Disease: Prion Diseases
Prion Diseases 		0.100 GeneticVariation group GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626 2012
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 GeneticVariation disease GWASCAT A novel Alzheimer disease locus located near the gene encoding tau protein. 25778476 2016
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.100 GeneticVariation phenotype GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
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: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.100 GeneticVariation phenotype GWASCAT Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. 28107422 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 Biomarker disease BEFREE These findings suggest immunotherapeutic potential for MS4A4A antibodies in targeting alternatively activated macrophages such as tumor-associated macrophages, and in the treatment of multiple myeloma and mantle cell lymphoma. 28303902 2017
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		0.010 Biomarker disease BEFREE These findings suggest immunotherapeutic potential for MS4A4A antibodies in targeting alternatively activated macrophages such as tumor-associated macrophages, and in the treatment of multiple myeloma and mantle cell lymphoma. 28303902 2017