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: rs80084721
rs80084721
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121912467
rs121912467
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1026685248
rs1026685248
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268155
Disease:
Deficiency of galactokinase 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104894577
rs104894577
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		A 0.700 CausalMutation CLINVAR
dbSNP: rs113464656
rs113464656
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs121912464
rs121912464
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1311294794
rs1311294794
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1365349586
rs1365349586
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT
dbSNP: rs1555748534
rs1555748534
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		CAGGGTACTCGCTGGAGGCCAGGG 0.700 GeneticVariation CLINVAR
dbSNP: rs1555748556
rs1555748556
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555748940
rs1555748940
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs375690568
rs375690568
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT
dbSNP: rs759284637
rs759284637
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		0.700 GeneticVariation UNIPROT
dbSNP: rs767329054
rs767329054
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs767329054
rs767329054
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs770087254
rs770087254
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs771067891
rs771067891
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		GGC 0.700 GeneticVariation CLINVAR
dbSNP: rs794726676
rs794726676
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C1856934
Disease:
Epidermolysis bullosa with pyloric atresia 		T 0.700 CausalMutation CLINVAR
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: rs104894576
rs104894576
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		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: rs1184406839
rs1184406839
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268155
Disease:
Deficiency of galactokinase 		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: rs1555748926
rs1555748926
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		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: rs575139300
rs575139300
Entrez Id: 2584
Gene Symbol: GALK1
GALK1
CUI: C0268155
Disease:
Deficiency of galactokinase 		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
Entrez Id: 2584;3691
Gene Symbol: GALK1;ITGB4
GALK1;ITGB4
CUI: C0268155
Disease:
Deficiency of galactokinase 		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: 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