DisGeNET - a database of gene-disease associations

TOMM40, translocase of outer mitochondrial membrane 40, 10452

N. diseases: 113; N. variants: 34

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:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASDB

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

19734902

2009

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASCAT

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.

19734903

2009

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASDB

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.

19734903

2009

dbSNP:

rs157580

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.810

GeneticVariation

GWASDB

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.

19734903

2009

dbSNP:

rs8106922

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.

19734903

2009

dbSNP:

rs10119

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.

19734903

2009

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0007273
Disease:

Carotid Artery Diseases

0.010

GeneticVariation

BEFREE

We found that two loci, chromosome 1p13.3 near CELSR2 and PSRC1 which contains rs646776, and 19q13.2 near TOMM40 and APOE which contains rs2075650, harbor risk alleles for CAAD.

19951432

2009

dbSNP:

rs10524523

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0494463
Disease:

Alzheimer Disease, Late Onset

0.080

GeneticVariation

BEFREE

In two independent clinical cohorts, longer lengths of rs10524523 are associated with a higher risk for LOAD.

20029386

2010

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASDB

Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

20061627

2010

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASCAT

Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

20061627

2010

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASDB

Genome-wide analysis of genetic loci associated with Alzheimer disease.

20460622

2010

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASCAT

Genome-wide analysis of genetic loci associated with Alzheimer disease.

20460622

2010

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASDB

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

20885792

2010

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASCAT

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

20885792

2010

dbSNP:

rs157580

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.810

GeneticVariation

GWASDB

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

20885792

2010

dbSNP:

rs157582

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.810

GeneticVariation

GWASDB

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

20885792

2010

dbSNP:

rs8106922

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASDB

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

20885792

2010

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASDB

Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data.

21098978

2011

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASCAT

Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.

21123754

2011

dbSNP:

rs157580

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.810

GeneticVariation

GWASCAT

Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.

21123754

2011

dbSNP:

rs157580

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0010068
Disease:

Coronary heart disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

21347282

2011

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.900

GeneticVariation

GWASDB

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.

21379329

2011

dbSNP:

rs157580

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.810

GeneticVariation

GWASDB

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.

21379329

2011

dbSNP:

rs8106922

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0002395
Disease:

Alzheimer's Disease

0.800

GeneticVariation

GWASDB

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.

21379329

2011

dbSNP:

rs2075650

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0023980
Disease:

Longevity

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.

21418511

2011