Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4668
Gene Symbol: NAGA
NAGA 		0.130 Biomarker disease HPO
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		0.130 Biomarker disease HPO
Entrez Id: 175
Gene Symbol: AGA
AGA 		0.120 Biomarker disease HPO
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR "Questioning the Pathogenic Role of the GLA p.Ala143Thr ""Mutation"" in Fabry Disease: Implications for Screening Studies and ERT." 23430526 2013
Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2 		0.100 GeneticVariation disease CLINVAR "Questioning the Pathogenic Role of the GLA p.Ala143Thr ""Mutation"" in Fabry Disease: Implications for Screening Studies and ERT." 23430526 2013
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease CTD_human α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. 22773828 2012
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. 22773828 2012
Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2 		0.100 CausalMutation disease CLINVAR α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. 22773828 2012
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 AlteredExpression disease BEFREE Fabry disease is an X-linked inborn error of glycosphingolipid metabolism resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A) enzyme. 10069717 1999
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 AlteredExpression disease BEFREE Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). 10360396 1999
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease BEFREE Fabry disease is a lysosomal storage disorder that is due to a deficiency in alpha-galactosidase A (alpha-gal A). 10390190 1999
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease BEFREE Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. 11115376 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease BEFREE Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). 11226298 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease BEFREE Fabry disease is a lipid storage disorder resulting from mutations in the gene encoding the enzyme alpha-galactosidase A (alpha-gal A; EC ). 11248095 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease BEFREE Fabry disease is an X-linked recessive disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A, which results in a progressive multisystem disease. 11531969 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 CausalMutation disease CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease LHGDN Fabry disease: 20 novel GLA mutations in 35 families. 11668641 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 GeneticVariation disease UNIPROT Fabry disease: 20 novel GLA mutations in 35 families. 11668641 2001
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease BEFREE Fabry disease is an X-linked recessive disorder caused by a deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha-gal). 12162373 2002
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 AlteredExpression disease BEFREE Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha galactosidase A. 12185177 2002
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 AlteredExpression disease BEFREE Fabry's disease is an X-linked recessive inborn error of glycosphingolipid catabolism resulting from deficient activity of lysosomal enzyme alpha-galactosidase A causing occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain. 12480979 2003
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 AlteredExpression disease BEFREE Fabry disease (FD, OMIM 301500) is an X-linked disorder of glycosphingolipid metabolism resulting from the deficient activity of alpha-galactosidase A, a lysosomal acid hydrolase, leading to progressive lysosomal accumulation of incompletely metabolized neutral glycosphingolipids.Cardiac involvement is frequent. 12519371 2003
Entrez Id: 2717
Gene Symbol: GLA
GLA 		1.000 Biomarker disease BEFREE Fabry disease is an X-linked recessive inborn metabolic disorder characterized by systemic and vascular accumulation of globotriaosylceramide (Gb(3)) caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). 12624185 2003