DisGeNET - a database of gene-disease associations

Classical galactosemia, C0268151

Variant: rs111033644 ×

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:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

27005423

2016

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

25592817

2015

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

25614870

2014

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

22475884

2012

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

23022339

2012

dbSNP:

rs111033644

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:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

18956253

2008

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

17876724

2007

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

Mutational spectrum of classical galactosaemia in Spain and Portugal.

17041746

2006

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in classical galactosemia.

15841485

2005

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

9222760

1997

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

8741038

1996

dbSNP:

rs111033644

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:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

7887416

1995

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

8112740

1994

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

Molecular characterization of the H319Q galactosemia mutation.

8499924

1993

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

The human galactose-1-phosphate uridyltransferase gene.

1427861

1992

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

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

1373122

1992

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

1610789

1992

dbSNP:

rs111033644

GALT

0.800

GeneticVariation

UNIPROT

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

2011574

1991

dbSNP:

rs111033644

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:

rs111033644

GALT

0.800

CausalMutation

CLINVAR