CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
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 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 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 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 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 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 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 Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
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 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 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 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 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 Biomarker disease CTD_human
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 UNIPROT Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 12642359 2003
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. 19035361 2009
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453 2006
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 GeneticVariation disease UNIPROT Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 12642359 2003
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting. 21425739 2011
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. 20044516 2010