Research graph
References from Identification of novel and known variants in GAA, MYH6, NEXN, ATA3A, RHBDF1, and ACTA1 genes in coronary artery disease patients by Whole-exome sequencing. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
External reference
Global burden of cardiovascular diseases and risks collaboration, 1990–2021
10.1016/j.jacc.2022.11.001 · 2022 · External reference
The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease
10.15252/emmm.201506174 · 2016 · External reference
Is type 2 diabetes mellitus a coronary heart disease equivalent or not? Do not just enjoy the debate and forget the patient!
10.5114/aoms.2019.89449 · 2019 · External reference
Cardiovascular disease and type 2 diabetes: has the Dawn of a new era arrived?
10.2337/dc16-2736 · 2017 · External reference
Pathology of human coronary and carotid artery atherosclerosis and vascular calcification in diabetes mellitus
10.1161/atvbaha.116.306256 · 2017 · External reference
Rare variant contribution to the heritability of coronary artery disease
10.1038/s41467-024-52939-6 · 2024 · External reference
Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: a prospective study of parents and offspring
10.1001/jama.291.18.2204 · 2004 · External reference
Sibling cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults
10.1001/jama.294.24.3117 · 2005 · External reference
Genetic mapping in human disease
10.1126/science.1156409 · 2008 · External reference
Identification of a functional PDE5A variant at the chromosome 4q27 coronary artery disease locus in an extended myocardial infarction family
10.1161/circulationaha.120.052975 · 2021 · External reference
A decade of genome-wide association studies for coronary artery disease: the challenges ahead
10.1093/cvr/cvy084 · 2018 · External reference
Coronary artery disease genetics enlightened by genome-wide association studies
10.1016/j.jacbts.2021.04.001 · 2021 · External reference
Unresolved reference
2010 · External reference
Unresolved reference
External reference
The ensembl variant effect predictor
10.1186/s13059-016-0974-4 · 2016 · External reference
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
10.1186/s13073-020-00803-9 · 2020 · External reference
CADD: predicting the deleteriousness of variants throughout the human genome
10.1093/nar/gky1016 · 2019 · External reference
The human phenotype ontology in 2021
10.1093/nar/gkaa1043 · 2021 · External reference
Online Mendelian Inheritance in Man (OMIM)
10.1002/(sici)1098-1004(200001)15:1<57::aid-humu12>3.0.co;2-g · 2000 · External reference
Clinvar: public archive of relationships among sequence variation and human phenotype
10.1093/nar/gkt1113 · 2014 · External reference
The universal protein resource (UniProt)
10.1093/nar/gkm895 · 2008 · External reference
The international genome sample resource (IGSR) collection of open human genomic variation resources
10.1093/nar/gkz836 · 2020 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans [published correction appears in Nature. 2021 Feb;590(7846):E53] [published correction appears in Nature. 2021 Sep;597(7874):E3–E4]
10.1038/s41586-020-2308-7 · 2020 · External reference
Predicting deleterious amino acid substitutions
10.1101/gr.176601 · 2001 · External reference
A method and server for predicting damaging missense mutations
10.1038/nmeth0410-248 · 2010 · External reference
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features
10.1093/bioinformatics/btx536 · 2018 · External reference
Mutationtaster2: mutation prediction for the deep-sequencing age
10.1038/nmeth.2890 · 2014 · External reference
Predicting the functional impact of protein mutations: application to cancer genomics
10.1093/nar/gkr407 · 2011 · External reference
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
10.1093/bioinformatics/btv195 · 2015 · External reference
SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins
10.1371/journal.pone.0077940 · 2013 · External reference
Panelapp crowdsources expert knowledge to establish consensus diagnostic gene panels
10.1038/s41588-019-0528-2 · 2019 · External reference
G:Profiler-interoperable web service for functional enrichment analysis and gene identifier mapping (2023 update)
10.1093/nar/gkad347 · 2023 · External reference
Genetic associations of protein-coding variants in human disease
10.1038/s41586-022-04394-w · 2022 · External reference
Establishing best practices for clinical GWAS: tackling imputation and data quality challenges
10.3390/ijms26136397 · 2025 · External reference
Recent advances and challenges of rare variant association analysis in the biobank sequencing era
10.3389/fgene.2022.1014947 · 2022 · External reference
Towards a new classification of cardiomyopathies
10.1007/s11886-023-01849-y · 2023 · External reference
The giant protein titin’s role in cardiomyopathy: genetic, transcriptional, and post-translational modifications of TTN and their contribution to cardiac disease
10.3389/fphys.2019.01436 · 2019 · External reference
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
10.1038/s41598-024-56154-7 · 2024 · External reference
Force-dependent structural changes of Filamin C rod domains regulated by filamin C dimer
10.1021/jacs.3c02303 · 2023 · External reference
A mutation update for the FLNC gene in myopathies and cardiomyopathies
10.1002/humu.24004 · 2020 · External reference
Pathogenesis of cardiomyopathy caused by variants in ALPK3, an essential pseudokinase in the cardiomyocyte nucleus and sarcomere
10.1161/circulationaha.122.059688 · 2022 · External reference
A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report
10.3389/fcvm.2023.1212417 · 2023 · External reference
Cardiovascular characteristics of patients with genetic variation in desmoplakin (DSP)
10.3390/cardiogenetics12010003 · 2022 · External reference
Clinical features and outcomes in carriers of pathogenic desmoplakin variants
10.1093/eurheartj/ehae571 · 2025 · External reference
Clinical manifestations and acid alpha-glucosidase mutation characterization of a cohort of patients with late-onset Pompe disease in eastern China
10.21037/atm-21-3710 · 2021 · External reference
Altered expression of lysosomal hydrolase, acid α-glucosidase, gene in coronary artery disease
10.1097/mca.0000000000000322 · 2016 · External reference
Significance of α-Myosin Heavy Chain (MYH6) variants in hypoplastic left heart syndrome and related cardiovascular diseases
10.3390/jcdd9050144 · 2022 · External reference
NEXN Is a novel susceptibility gene for coronary artery disease in Han Chinese
10.1371/journal.pone.0082135 · 2013 · External reference
Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus
10.3389/fcvm.2022.1048795 · 2022 · External reference
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus
10.1016/j.medj.2020.06.004 · 2021 · External reference
ACTA1 Novel likely pathogenic variant in a family with dilated cardiomyopathy
10.1161/circgen.118.002243 · 2018 · External reference
