GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Fabry Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525 2013
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. 23306324 2013
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. 22078290 2012
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. 22227322 2012
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. 21598360 2011
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Fabry disease. 21092187 2010
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study. 21138548 2010
dbSNP: rs112341092
rs112341092
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		G 0.700 CausalMutation CLINVAR Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. 18698230 2008