DisGeNET - a database of gene-disease associations

Classical galactosemia, C0268151

Variant: rs111033670 ×

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:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

1373122

1992

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

17876724

2007

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

22743281

2012

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

1897530

1991

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.

28644047

2017

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Molecular characterization of the H319Q galactosemia mutation.

8499924

1993

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

8741038

1996

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

7887416

1995

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

8112740

1994

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

22461411

2012

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

18956253

2008

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Gastrointestinal Health in Classic Galactosemia.

27363831

2017

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

17876724

2007

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

27005423

2016

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

27308838

2017

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

27005423

2016

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

25614870

2014

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Verbal dyspraxia and galactosemia.

12595586

2003

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

21228398

2011

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in classical galactosemia.

15841485

2005

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Mutational spectrum of classical galactosaemia in Spain and Portugal.

17041746

2006

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

8956044

1996

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

22475884

2012

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

UNIPROT

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

9222760

1997

dbSNP:

rs111033670

GALT

0.800

GeneticVariation

CLINVAR

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

10408771

1999