CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
Disease: CARDIOMYOPATHY, DILATED, 1M ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510 2015
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease MGD Targeted disruption of the mouse Csrp2 gene encoding the cysteine- and glycine-rich LIM domain protein CRP2 result in subtle alteration of cardiac ultrastructure. 18713466 2008
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease GENOMICS_ENGLAND Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease CLINVAR Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease UNIPROT Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328 2008
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease UNIPROT Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453 2006
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease MGD PKC-alpha regulates cardiac contractility and propensity toward heart failure. 14966518 2004
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 GeneticVariation disease UNIPROT The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. 12507422 2002
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease MGD Cellular and functional defects in a mouse model of heart failure. 11087268 2000
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease MGD MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. 9039266 1997
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.900 Biomarker disease CTD_human