DisGeNET - a database of gene-disease associations

CD2AP, CD2 associated protein, 23607

N. diseases: 113; N. variants: 14

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs9349407

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.830

GeneticVariation

BEFREE

In humans, CD2AP AD susceptibility locus (rs9349407) is associated with an increased plaque burden.

25887956

2015

dbSNP:

rs9349407

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.830

GeneticVariation

BEFREE

Our analysis further supports previous findings that the CD2AP rs9349407 polymorphism contributes to AD susceptibility.

25092125

2015

dbSNP:

rs9349407

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.830

GeneticVariation

BEFREE

Besides the previously reported APOE and CR1 loci, we found that the ABCA7 (rs3764650; P = .02) and CD2AP (rs9349407; P = .03) AD susceptibility loci are associated with neuritic plaque burden.

23836404

2013

dbSNP:

rs9349407

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.830

GeneticVariation

GWASDB

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

21460841

2011

dbSNP:

rs9349407

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.830

GeneticVariation

GWASCAT

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

21460841

2011

dbSNP:

rs10948363

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASCAT

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

30617256

2019

dbSNP:

rs10948363

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASCAT

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

31473137

2019

dbSNP:

rs10948363

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASCAT

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

24162737

2013

dbSNP:

rs10948363

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASDB

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

24162737

2013

dbSNP:

rs9473132

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs5876027

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs5876027

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs6940729

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C2242817
Disease:

Homocysteine measurement

0.700

GeneticVariation

GWASCAT

Minor allele (T) carriers of identified CD2AP variant (rs6940729) exhibited decreased homocysteine level.

26519441

2016

dbSNP:

rs9296559

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0206161
Disease:

Reticulocyte count (procedure)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs9367279

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0206161
Disease:

Reticulocyte count (procedure)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs9349407

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0162534
Disease:

Prion Diseases

0.700

GeneticVariation

GWASDB

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

22210626

2012

dbSNP:

rs1393955970

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C1842982
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554181304

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C4016880
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606710

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C4016880
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs116754410

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0494463
Disease:

Alzheimer Disease, Late Onset

0.010

GeneticVariation

BEFREE

A stop-gain mutation in ABCA7 (E1679X) and missense mutation in CD2AP (K633R) were highly significant in Caucasian LOAD cases, and mutations in EPHA1 (P460L) and BIN1 (K358R) were significant in Caribbean Hispanic families with LOAD.

26101835

2015

dbSNP:

rs9473132

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C2745963
Disease:

Kashin-Beck Disease

0.010

GeneticVariation

BEFREE

In the validation stage, single locus effects revealed that two of these polymorphisms (rs7745040 and rs9275295) in the human leukocyte antigen (HLA)-DRB1 gene and one polymorphism (rs9473132) in CD2-associated protein (CD2AP) gene have a significant statistical association with KBD.

24776925

2014

dbSNP:

rs6936632

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0022661
Disease:

Kidney Failure, Chronic

0.010

GeneticVariation

BEFREE

A third SNP, rs6936632, was suggestively associated with ESRD in the Finnish patients and in the meta-analysis of four cohorts.

23681557

2013

dbSNP:

rs6936632

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C2316810
Disease:

Chronic kidney disease stage 5

0.010

GeneticVariation

BEFREE

A third SNP, rs6936632, was suggestively associated with ESRD in the Finnish patients and in the meta-analysis of four cohorts.

23681557

2013

dbSNP:

rs9349417

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C2316810
Disease:

Chronic kidney disease stage 5

0.010

GeneticVariation

BEFREE

However, when genotype frequencies in patients with ESRD were compared with all other patients, two CD2AP SNPs, rs9369717 and rs9349417, were found to be associated with ESRD.

23681557

2013

dbSNP:

rs9349417

Entrez Id:	23607
Gene Symbol:	CD2AP

CD2AP

CUI:	C0022661
Disease:

Kidney Failure, Chronic

0.010

GeneticVariation

BEFREE

However, when genotype frequencies in patients with ESRD were compared with all other patients, two CD2AP SNPs, rs9369717 and rs9349417, were found to be associated with ESRD.

23681557

2013