GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease BEFREE Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2. 29893426 2018
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 CausalMutation disease CLINVAR Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. 21290184 2011
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease CLINVAR Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. 20405025 2010
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 Biomarker disease BEFREE Approximately 20 mutations have now been identified in human galactokinase, which result in the diseased state referred to as Type II galactosemia. 15590630 2005
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 Biomarker disease BEFREE Galactokinase: structure, function and role in type II galactosemia. 15526155 2004
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease UNIPROT In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency. 15024738 2004
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease BEFREE In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency. 15024738 2004
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease UNIPROT Functional analysis of disease-causing mutations in human galactokinase. 12694189 2003
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 CausalMutation disease CLINVAR Functional analysis of disease-causing mutations in human galactokinase. 12694189 2003
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 CausalMutation disease CLINVAR [Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]. 12647253 2003
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease BEFREE The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. 11978884 2002
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 CausalMutation disease CLINVAR The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. 11978884 2002
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 CausalMutation disease CLINVAR An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. 11978883 2002
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease 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
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease 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
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease BEFREE Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency. 11139256 2001
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease UNIPROT Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency. 11139256 2001
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 CausalMutation disease CLINVAR We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. 10790206 2000
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease BEFREE We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. 10790206 2000
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease UNIPROT We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. 10790206 2000
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GeneticVariation disease BEFREE A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 Biomarker disease GENOMICS_ENGLAND A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 GermlineCausalMutation disease ORPHANET A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase
0.800 CausalMutation disease CLINVAR A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999