DisGeNET - a database of gene-disease associations

TRPM1, transient receptor potential cation channel subfamily M member 1, 4308

N. diseases: 62; N. variants: 31

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:

rs267607139

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.800

GeneticVariation

UNIPROT

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

19878917

2009

dbSNP:

rs267607139

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.800

GeneticVariation

UNIPROT

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

19896113

2009

dbSNP:

rs267607139

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.800

GeneticVariation

UNIPROT

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

19896109

2009

dbSNP:

rs191205969

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.800

CausalMutation

CLINVAR

dbSNP:

rs191205969

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.800

GeneticVariation

UNIPROT

dbSNP:

rs267607139

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.800

CausalMutation

CLINVAR

dbSNP:

rs11635657

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Pilot genome-wide association study identifying novel risk loci for type 2 diabetes in a Maya population.

30130595

2018

dbSNP:

rs7182946

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C0242383
Disease:

Age related macular degeneration

0.700

GeneticVariation

GWASCAT

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

28813576

2017

dbSNP:

rs149916999

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C0002395
Disease:

Alzheimer's Disease

0.700

GeneticVariation

GWASCAT

Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

26830138

2016

dbSNP:

rs869312176

Entrez Id:	4308;406993
Gene Symbol:	TRPM1;MIR211

TRPM1;MIR211

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

CLINVAR

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

26872967

2016

dbSNP:

rs11070764

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs150441866

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

CLINVAR

TRPM1 mutations are associated with the complete form of congenital stationary night blindness.

20300565

2010

dbSNP:

rs387906862

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

CLINVAR

TRPM1 mutations are associated with the complete form of congenital stationary night blindness.

20300565

2010

dbSNP:

rs150441866

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

CLINVAR

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

19896113

2009

dbSNP:

rs369484186

Entrez Id:	4308;105370752
Gene Symbol:	TRPM1;LOC105370752

TRPM1;LOC105370752

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

19896109

2009

dbSNP:

rs369484186

Entrez Id:	4308;105370752
Gene Symbol:	TRPM1;LOC105370752

TRPM1;LOC105370752

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

19896113

2009

dbSNP:

rs369484186

Entrez Id:	4308;105370752
Gene Symbol:	TRPM1;LOC105370752

TRPM1;LOC105370752

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

19878917

2009

dbSNP:

rs372608320

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

19878917

2009

dbSNP:

rs372608320

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

19896109

2009

dbSNP:

rs372608320

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

19896113

2009

dbSNP:

rs574652148

Entrez Id:	4308;105370752
Gene Symbol:	TRPM1;LOC105370752

TRPM1;LOC105370752

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

19896109

2009

dbSNP:

rs574652148

Entrez Id:	4308;105370752
Gene Symbol:	TRPM1;LOC105370752

TRPM1;LOC105370752

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

19878917

2009

dbSNP:

rs574652148

Entrez Id:	4308;105370752
Gene Symbol:	TRPM1;LOC105370752

TRPM1;LOC105370752

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

19896113

2009

dbSNP:

rs781460164

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

19878917

2009

dbSNP:

rs781460164

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C2750747
Disease:

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

0.700

GeneticVariation

UNIPROT

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

19896109

2009