DisGeNET - a database of gene-disease associations

Fanconi-Bickel Syndrome, C3495427

Variant: rs121909743 ×

Source: CURATED ×

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:

rs121909743

SLC2A2

0.700

CausalMutation

CLINVAR

Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.

27487919

2016

dbSNP:

rs121909743

SLC2A2

0.700

CausalMutation

CLINVAR

Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.

24718840

2015

dbSNP:

rs121909743

SLC2A2

0.700

CausalMutation

CLINVAR

Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.

22145468

2011

dbSNP:

rs121909743

SLC2A2

0.700

CausalMutation

CLINVAR

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

11810292

2002