| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43. | 26840987 | 2016 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy. | 25343256 | 2014 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. | 23812740 | 2013 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. | 21214875 | 2011 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. | 18313022 | 2008 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. | 18313022 | 2008 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.200 | Biomarker | disease | MGD | Lamr1 functional retroposon causes right ventricular dysplasia in mice. | 14730304 | 2004 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | This region also contains a locus for right ventricular cardiomyopathy (ARVD5) and the cardiac sodium channel gene (SCN5A), mutations that cause isolated progressive cardiac conduction defect (Lenegre syndrome), long-QT syndrome (LQT3), and Brugada syndrome. | 15466643 | 2004 |