Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.740 | GeneticVariation | disease | BEFREE | AAV-mediated gene delivery of calsequestrin or triadin and treatment with kifunensine are potential treatments for recessive forms of CPVT due to triadin mutations. | 31607542 | 2020 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | Approximately 50% of CPVT cases are caused by dominant mutations in the cardiac ryanodine receptor (RYR2) gene, <5% of cases are accounted for by recessive mutations in cardiac calsequestrin (CASQ2) or Triadin (TRDN). | 29178653 | 2017 | ||||
|
0.740 | Biomarker | disease | GENOMICS_ENGLAND | New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. | 26200674 | 2015 | ||||
|
0.740 | CausalMutation | disease | CLINVAR | New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. | 26200674 | 2015 | ||||
|
0.740 | CausalMutation | disease | CLINVAR | Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. | 25922419 | 2015 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. | 26200674 | 2015 | ||||
|
0.740 | CausalMutation | disease | CLINVAR | In this work, we identified TRDN as a new gene responsible for an autosomal recessive form of CPVT. | 22422768 | 2012 | ||||
|
0.740 | GermlineCausalMutation | disease | ORPHANET | In this work, we identified TRDN as a new gene responsible for an autosomal recessive form of CPVT. | 22422768 | 2012 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | In this work, we identified TRDN as a new gene responsible for an autosomal recessive form of CPVT. | 22422768 | 2012 | ||||
|
0.740 | GeneticVariation | disease | CLINVAR | |||||||
|
0.740 | Biomarker | disease | CTD_human |