DisGeNET - a database of gene-disease associations

Gene: LARGE1 ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9215
Gene Symbol:	LARGE1

LARGE1

CUI:	C0270962
Disease:	Multi-core congenital myopathy

Multi-core congenital myopathy

0.200

Biomarker

MGD

Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.

2005