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 		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 		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: 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: 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: 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: 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: 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 Functional analysis of disease-causing mutations in human galactokinase. 12694189 2003
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: 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: 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: 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: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		0.800 GeneticVariation UNIPROT Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 9546354 1998
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 Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 9892956 1998
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
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 Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). 9422533 1998
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 Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 9792864 1998
dbSNP: rs104894576
rs104894576
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT Novel mutations in 13 probands with galactokinase deficiency. 10790206 2000
dbSNP: rs104894576
rs104894576
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT Functional analysis of disease-causing mutations in human galactokinase. 12694189 2003
dbSNP: rs104894576
rs104894576
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999
dbSNP: rs104894576
rs104894576
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. 15024738 2004