DisGeNET - a database of gene-disease associations

rs781460164, TRPM1

N. diseases: 1

Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

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

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

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

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

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