Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510

2015
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation CLINVAR Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755

2008
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453

2006