Condition: Cardiomyopathies


rs1024095026 in ABCC9 gene and Cardiomyopathies PMID 23103869 2012 Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.

rs769139957 in ALPK3 gene and Cardiomyopathies PMID 28630369 2017 ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

rs1057517686 in ATAD3A gene and Cardiomyopathies PMID 27640307 2016 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

rs397516784 in CEP85L;PLN gene and Cardiomyopathies PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

rs730880092 in DSP gene and Cardiomyopathies PMID 19924139 2010 Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.

rs121912998 in DSP;LOC101928076 gene and Cardiomyopathies PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

rs56793579 in LMNA gene and Cardiomyopathies PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

PMID 12647844 2002 Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.

PMID 20041886 2010 On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.

PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

rs114638163 in MIPEP gene and Cardiomyopathies PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs267606976 in PRKAG2 gene and Cardiomyopathies PMID 15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

PMID 23992123 2014 Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.

rs786205436 in SDHD gene and Cardiomyopathies PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

rs397516373 in TPM1 gene and Cardiomyopathies PMID 29517769 2018 Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.

PMID 29024827 2018 Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

PMID 27177193 2016 Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.

PMID 28359939 2017 Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.