Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Mutational analysis of the GLA gene in Mexican families with Fabry disease. 28360401

2017
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR X-chromosome inactivation in female patients with Fabry disease. 25974833

2016
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Mutation analysis in 11 French patients with Fabry disease. 9452111

1998
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. 7531540

1994
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.810 CausalMutation CLINVAR A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. 2152885

1990