Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. 27005423

2016

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. 25592817

2015

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Functional and structural impact of the most prevalent missense mutations in classic galactosemia. 25614870

2014

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. 23924834

2013

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family. 21188552

2011

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia. 18956253

2008

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients. 17041746

2006

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. 11152465

2001

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase. 10037750

1999

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. 10408771

1999

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia. 9772178

1998

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. 7887417

1995

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. 7887416

1995

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G). 8198125

1994

dbSNP: rs75391579
rs75391579
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
G 0.900 CausalMutation CLINVAR Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. 1897530

1991