DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: MYASTHENIC SYNDROME, CONGENITAL, 12 ×

The Variant filter does not apply in GDA tabs

Results per page

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2673
Gene Symbol:	GFPT1

GFPT1

glutamine--fructose-6-phosphate transaminase 1

0.612

0.654

0.90

CUI:	C3552335
Disease:	MYASTHENIC SYNDROME, CONGENITAL, 12

MYASTHENIC SYNDROME, CONGENITAL, 12

disease

0.800

None

1.000

2011

2017