rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
T
0.810
CausalMutation
CLINVAR
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
21290184
2011
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
15024738
2004
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
15024738
2004
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
T
0.810
CausalMutation
CLINVAR
Functional analysis of disease-causing mutations in human galactokinase.
12694189
2003
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Functional analysis of disease-causing mutations in human galactokinase.
12694189
2003
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
T
0.810
CausalMutation
CLINVAR
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].
12647253
2003
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Functional analysis of disease-causing mutations in human galactokinase.
12694189
2003
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
T
0.810
CausalMutation
CLINVAR
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
11978884
2002
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
T
0.810
CausalMutation
CLINVAR
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
11978883
2002
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
BEFREE
The P28T mutation is thus likely to account for a high proportion of galactokinase deficiency cases across Europe.
11978884
2002
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
"A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians."
11231902
2001
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
11139256
2001
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
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
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
11139256
2001
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
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
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
T
0.810
CausalMutation
CLINVAR
Novel mutations in 13 probands with galactokinase deficiency.
10790206
2000
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Novel mutations in 13 probands with galactokinase deficiency.
10790206
2000
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
Novel mutations in 13 probands with galactokinase deficiency.
10790206
2000
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
T
0.810
CausalMutation
CLINVAR
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
rs104894572
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
0.810
GeneticVariation
UNIPROT
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
rs80084721
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
Deficiency of galactokinase
A
0.810
CausalMutation
CLINVAR
rs121912467
GALK1;ITGB4
Epidermolysis bullosa with pyloric atresia
0.800
GeneticVariation
UNIPROT
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
11251584
2001
rs121912467
GALK1;ITGB4
Epidermolysis bullosa with pyloric atresia
0.800
GeneticVariation
UNIPROT
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
11328943
2001
rs121912467
GALK1;ITGB4
Epidermolysis bullosa with pyloric atresia
0.800
GeneticVariation
UNIPROT
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
10873890
2000