Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. 16301867

2006
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. 15639193

2005
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. 16302980

2005
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. 11279193

2001
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. 11903335

2001
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. 9973283

1999
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. 9538513

1998
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.700 GeneticVariation UNIPROT Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. 9326324

1997
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.010 GeneticVariation BEFREE The remainder (G90E, V94M, D103G, L183P, K257R, L313M and R335H) are all impaired in turnover number (k cat) and specificity constant (k cat/Km), with G90E and V94M (which is associated with the generalized form of galactosemia) being the most affected. 16302980

2005
dbSNP: rs368637540
rs368637540
GALE ; LYPLA2
CUI: C0016952
Disease: Galactosemias
Galactosemias 		0.010 GeneticVariation BEFREE The remainder (G90E, V94M, D103G, L183P, K257R, L313M and R335H) are all impaired in turnover number (k cat) and specificity constant (k cat/Km), with G90E and V94M (which is associated with the generalized form of galactosemia) being the most affected. 16302980

2005