DisGeNET - a database of gene-disease associations

GRM1, glutamate metabotropic receptor 1, 2911

N. diseases: 39; N. variants: 7

Disease: SPINOCEREBELLAR ATAXIA 44 ×

Source: CURATED ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4521563
Disease:	SPINOCEREBELLAR ATAXIA 44

SPINOCEREBELLAR ATAXIA 44

0.610

GeneticVariation

disease

UNIPROT

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

28886343

2017

CUI:	C4521563
Disease:	SPINOCEREBELLAR ATAXIA 44

SPINOCEREBELLAR ATAXIA 44

0.610

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C4521563
Disease:	SPINOCEREBELLAR ATAXIA 44

SPINOCEREBELLAR ATAXIA 44

0.610

Biomarker

disease

GENOMICS_ENGLAND