DisGeNET - a database of gene-disease associations

PICALM, phosphatidylinositol binding clathrin assembly protein, 8301

N. diseases: 79; N. variants: 22

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:

rs17817600

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASCAT

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs17817600

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs7938033

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs867611

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASCAT

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

30617256

2019

dbSNP:

rs527162

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASCAT

GWAS on family history of Alzheimer's disease.

29777097

2018

dbSNP:

rs639012

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASCAT

A novel Alzheimer disease locus located near the gene encoding tau protein.

25778476

2016

dbSNP:

rs655641

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0032181
Disease:

Platelet Count measurement

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs10501602

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs12787412

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs12790526

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs12794211

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs12795381

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs12795833

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs12802399

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs17817648

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs17817931

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs17817992

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of Alzheimer's disease.

22832961

2012

dbSNP:

rs592297

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

The null associations for rs592297 with AD risk need further confirmation with a larger number of participants.

31385771

2019

dbSNP:

rs11234495

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

Four SNPs (rs11234495, rs592297, rs676733, and rs3851179) in the PICALM gene were significantly associated with late-onset (LO)-AD in populations from Southwest China, whereas SNPs rs744373 (BIN1), rs9331942 (CLU), and rs670139 (MS4A4E) were linked to LO-AD in populations from East China.

25452228

2016

dbSNP:

rs592297

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C1270972
Disease:

Mild cognitive disorder

0.010

GeneticVariation

BEFREE

We found seven variations in health and two variations (rs543293 and rs592297) in individuals with mild cognitive impairment were associated with slower atrophy rate of posterior cingulate.

27117083

2016

dbSNP:

rs676733

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

25452228

2016

dbSNP:

rs770461695

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

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:

rs588076

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

Conditional on rs3851179, rs588076 was not associated with AD risk, suggesting that D18-19 PICALM is not critical in AD.

25169757

2014

dbSNP:

rs677909

Entrez Id:	8301
Gene Symbol:	PICALM

PICALM

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

Three SNPs [rs429358 in APOE: odds ratio (OR)=4.24, 95% confidence interval (CI)=3.01-5.96, P=1.23×10; rs2075650 in APOE: OR=3.57, 95% CI=2.51-5.06, P=1.23×10; and rs677909 in PICALM: OR=0.63, 95% CI=0.49-0.81, P=0.00036, log additive model] were significantly associated with AD susceptibility after correction for multiple testing.

22975751

2014