| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. | 25331909 | 2015 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. | 25218699 | 2015 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. | 23974653 | 2014 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. | 21520339 | 2011 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. | 20490928 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. | 20298421 | 2010 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Vascular and connective tissue features in 5 Italian patients with homocystinuria. | 18280597 | 2009 |
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|
A | 0.800 | GeneticVariation | CLINVAR | The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. | 12124992 | 2002 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. | 9587029 | 1998 |
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|
A | 0.800 | CausalMutation | CLINVAR |