GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
T 0.810 CausalMutation CLINVAR Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. 21290184 2011
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. 15024738 2004
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. 15024738 2004
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
T 0.810 CausalMutation CLINVAR Functional analysis of disease-causing mutations in human galactokinase. 12694189 2003
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Functional analysis of disease-causing mutations in human galactokinase. 12694189 2003
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
T 0.810 CausalMutation CLINVAR [Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]. 12647253 2003
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Functional analysis of disease-causing mutations in human galactokinase. 12694189 2003
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
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
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
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
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
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
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
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
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Novel mutations in the GALK1 gene in patients with galactokinase deficiency. 11139256 2001
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
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
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Novel mutations in the GALK1 gene in patients with galactokinase deficiency. 11139256 2001
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
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
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
T 0.810 CausalMutation CLINVAR Novel mutations in 13 probands with galactokinase deficiency. 10790206 2000
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Novel mutations in 13 probands with galactokinase deficiency. 10790206 2000
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT Novel mutations in 13 probands with galactokinase deficiency. 10790206 2000
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
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
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
0.810 GeneticVariation UNIPROT A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase
A 0.810 CausalMutation CLINVAR
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia
0.800 GeneticVariation UNIPROT Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 11251584 2001
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
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
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia
0.800 GeneticVariation UNIPROT Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890 2000