Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754967473
rs754967473
GALK1 ; ITGB4
0.700 GeneticVariation UNIPROT Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. 15024738

2004
dbSNP: rs754967473
rs754967473
GALK1 ; ITGB4
0.700 GeneticVariation UNIPROT Functional analysis of disease-causing mutations in human galactokinase. 12694189

2003
dbSNP: rs754967473
rs754967473
GALK1 ; ITGB4
0.700 GeneticVariation UNIPROT "A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians." 11231902

2001
dbSNP: rs754967473
rs754967473
GALK1 ; ITGB4
0.700 GeneticVariation UNIPROT Novel mutations in the GALK1 gene in patients with galactokinase deficiency. 11139256

2001
dbSNP: rs754967473
rs754967473
GALK1 ; ITGB4
0.700 GeneticVariation UNIPROT Novel mutations in 13 probands with galactokinase deficiency. 10790206

2000
dbSNP: rs754967473
rs754967473
GALK1 ; ITGB4
0.700 GeneticVariation UNIPROT A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295

1999