DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: MYASTHENIC SYNDROME, CONGENITAL, 12 ×

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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:	2673
Gene Symbol:	GFPT1

GFPT1

CUI:	C3552335
Disease:	MYASTHENIC SYNDROME, CONGENITAL, 12

MYASTHENIC SYNDROME, CONGENITAL, 12

0.800

GeneticVariation

UNIPROT

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

2011