Gene: RPL36A-HNRNPH2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. 15091117

2004
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. 15091117

2004
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation CLINVAR Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. 11889412

2002
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. 11914245

2002
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641

2001
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. 11531969

2001
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480

1999
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 GeneticVariation CLINVAR Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. 9100224

1997
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 GeneticVariation 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: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. 7911050

1994
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405

1993
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
C 0.860 CausalMutation CLINVAR Mutation analysis in patients with the typical form of Anderson-Fabry disease. 8395937

1993
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
G 0.860 CausalMutation CLINVAR

dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
T 0.860 CausalMutation CLINVAR

dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease. 27560961

2016
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. 27356758

2016
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. 25382311

2015
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Diagnosing Fabry disease--delays and difficulties within discordant siblings. 23378663

2015
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. 24386359

2013
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Pharmacological chaperone therapy for Fabry disease. 22241068

2012
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 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: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. 20505683

2010
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Screening for pharmacological chaperones in Fabry disease. 17532296

2007
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. 15702404

2005
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
T 0.840 CausalMutation CLINVAR Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. 12428061

2002