Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.330 GeneticVariation disease BEFREE To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance. 31668660 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.330 Biomarker disease CTD_human Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? 15996213 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.330 Biomarker disease BEFREE The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. 29057633 2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.010 GeneticVariation disease BEFREE This case highlights that patchy demyelinating neuropathy with conduction block may occur in p.Ile112Thr MPZ mutations. 21256749 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
0.100 CausalMutation disease CLINVAR
Entrez Id: 93649
Gene Symbol: MYOCD
MYOCD
0.010 AlteredExpression disease BEFREE Forced myocardin expression also endowed human MSFs with the ability to transmit an action potential and to repair an artificially created conduction block in cardiomyocyte cultures. 17579192 2007
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.100 Biomarker disease HPO
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.100 Biomarker disease HPO
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.100 Biomarker disease HPO
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.100 Biomarker disease HPO
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.020 GeneticVariation disease BEFREE Additionally, CSX/NKX2.5 mutation causes atrioventricular (AV) conduction block with or without associated congenital heart diseases. 12074273 2002
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.020 GeneticVariation disease BEFREE Mutations in NKX2-5 have been found in families showing secundum ASD and atrioventricular (AV) conduction block and in some individuals with tetralogy of Fallot. 12798584 2003
Entrez Id: 55998
Gene Symbol: NXF5
NXF5
0.010 GeneticVariation disease BEFREE Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. 23686279 2013
Entrez Id: 24145
Gene Symbol: PANX1
PANX1
0.010 Biomarker disease BEFREE <b>Background:</b> Probenecid is a uricosuric agent that in addition to exerting a positive ionotropic effect in the heart, blocks the ATP transporter Pannexin 1 and inhibits the Cl<sup>-</sup>/HCO<sub>3</sub><sup>-</sup> exchanger, pendrin. 30050451 2018
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
0.100 Biomarker disease HPO
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
0.100 Biomarker disease HPO
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
0.010 GeneticVariation disease BEFREE Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. 28431061 2017
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
0.010 Biomarker disease BEFREE Differences between REG and HUA regarded conduction block (CB) and job type. 31369403 2019
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.100 Biomarker disease HPO
Entrez Id: 6738
Gene Symbol: RO60
RO60
0.020 Biomarker disease BEFREE Targeting downstream transcription factors and epigenetic modifications following Toll-like receptor 7/8 ligation to forestall tissue injury in anti-Ro60 associated heart block. 26432597 2016
Entrez Id: 6738
Gene Symbol: RO60
RO60
0.020 Biomarker disease BEFREE Ro60-associated single-stranded RNA links inflammation with fetal cardiac fibrosis via ligation of TLRs: a novel pathway to autoimmune-associated heart block. 20089705 2010
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
0.320 GeneticVariation disease BEFREE In addition, the A allele remained significant after adjusting for other covariates in a multivariate model (odds ratio = 6.30 [95% confidence interval: 2.24 to 19.09], P = 0.0005).The rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in HCM patients. 26104176 2015
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
0.320 Biomarker disease CTD_human Genetic variation in SCN10A influences cardiac conduction. 20062061 2010
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A
0.320 GeneticVariation disease BEFREE We have shown that the gene SCN10A encoding the sodium channel Na(v)1.8 is a susceptibility factor for heart block and serious ventricular arrhythmia. 21646736 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.010 GeneticVariation disease BEFREE We present clinical, genetic, and biophysical features of 2 new SCN5A mutations that result in atrioventricular (AV) conduction block. 11804990 2002