rs111033773, GALT

N. diseases: 3
Disease: Classical galactosemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. 8956044 1996
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. 7887416 1995
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). 8112740 1994
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT Molecular characterization of the H319Q galactosemia mutation. 8499924 1993
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT The human galactose-1-phosphate uridyltransferase gene. 1427861 1992
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. 1610789 1992
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. 1373122 1992
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. 2011574 1991
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
0.840 GeneticVariation UNIPROT Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. 1897530 1991