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: rs762236241
rs762236241
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. 12485428 2002
dbSNP: rs762236241
rs762236241
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268374
Disease:
Adult junctional epidermolysis bullosa (disorder) 		C 0.700 GeneticVariation CLINVAR Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 10484780 1999
dbSNP: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0521707
Disease:
Bilateral cataracts (disorder) 		0.010 GeneticVariation BEFREE A population study for A198V revealed prevalences of 4.1% in Japanese and 2.8% in Koreans, lower incidence in Taiwanese and Chinese, no incidence in blacks and whites from the United States, and a significantly high frequency (7.8%; P < .023) in Japanese individuals with bilateral cataract. 11231902 2001
dbSNP: rs104894572
rs104894572
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0456909
Disease:
Blindness 		0.010 GeneticVariation BEFREE The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority. 10521295 1999
dbSNP: rs743554
rs743554
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. 22939228 2012
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 		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 		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 		T 0.810 CausalMutation CLINVAR [Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]. 12647253 2003
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 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 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 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 		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 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 		A 0.810 CausalMutation CLINVAR