DisGeNET - a database of gene-disease associations

Fructose-1,6-Diphosphatase Deficiency, C0016756

Variant: rs121918192 ×

Source: ALL

Results per page

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918192

FBP1 ; PCAT7

0.800

GeneticVariation

UNIPROT

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

25601412

2015

dbSNP:

rs121918192

FBP1 ; PCAT7

0.800

GeneticVariation

UNIPROT

Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

12126934

2002

dbSNP:

rs121918192

FBP1 ; PCAT7

0.800

GeneticVariation

UNIPROT

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

9382095

1997

dbSNP:

rs121918192

FBP1 ; PCAT7

0.800

CausalMutation

CLINVAR