×
Entrez Id:
10654
Gene Symbol:
PMVK
PMVK
0.010
GeneticVariation
disease
BEFREE
GHMP kinase mutations at the conserved surface residues corresponding to Ser291 and Ala293 in phosphomevalonate kinase are linked to mevalonic acid deficiency, which can lead to early fatality, and galactokinase deficiency , which causes cataracts.
15544330
2004
×
Entrez Id:
2710
Gene Symbol:
GK
GK
0.010
GeneticVariation
disease
BEFREE
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
×
Entrez Id:
57509
Gene Symbol:
MTUS1
MTUS1
0.010
GeneticVariation
disease
BEFREE
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
×
Entrez Id:
2582
Gene Symbol:
GALE
GALE
0.300
Biomarker
disease
CTD_human
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
25526675
2015
×
Entrez Id:
2592
Gene Symbol:
GALT
GALT
0.300
Biomarker
disease
CTD_human
Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.
22773758
2013
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
Structural analysis of missense mutations in galactokinase 1 (GALK1 ) leading to galactosemia type-2 .
29893426
2018
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
21290184
2011
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
CLINVAR
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
20405025
2010
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
Biomarker
disease
BEFREE
Approximately 20 mutations have now been identified in human galactokinase , which result in the diseased state referred to as Type II galactosemia .
15590630
2005
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
Biomarker
disease
BEFREE
Galactokinase : structure, function and role in type II galactosemia .
15526155
2004
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency .
15024738
2004
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency .
15024738
2004
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
Functional analysis of disease-causing mutations in human galactokinase.
12694189
2003
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
Functional analysis of disease-causing mutations in human galactokinase.
12694189
2003
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].
12647253
2003
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
11978884
2002
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
11978884
2002
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
11978883
2002
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency .
11231902
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency .
11231902
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency .
11139256
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency .
11139256
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
We examined the sequence of the human galactokinase gene (GK1 ) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations.
10790206
2000
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
We examined the sequence of the human galactokinase gene (GK1 ) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations.
10790206
2000