GLA, galactosidase alpha, 2717
N. diseases: 190; N. variants: 203
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. | 26415523 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. | 25382311 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Identification of mutations in Colombian patients affected with Fabry disease. | 26297554 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. | 24386359 | 2013 | ||||||
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T | 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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. | 18154965 | 2007 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. | 16595074 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. | 15712228 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Pediatric Fabry disease. | 15713906 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease. | 15339079 | 2004 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. | 12428061 | 2002 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease. | 9452068 | 1998 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. | 8807334 | 1996 |