CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GENOMICS_ENGLAND 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 GeneticVariation disease UNIPROT MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy. 27353086 2016
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 GeneticVariation disease CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510 2015
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510 2015
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments. 24934443 2014
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 GeneticVariation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 GeneticVariation disease CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease CLINGEN High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
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 CLINGEN A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. 20044516 2010
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 Biomarker disease MGD A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. 20044516 2010
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 GeneticVariation disease CLINVAR Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		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 GENOMICS_ENGLAND 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 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 CLINVAR 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 Biomarker disease CLINGEN Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. 15582318 2004
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 GeneticVariation disease UNIPROT Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy. 15205937 2004
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 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 CTD_human
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.900 CausalMutation disease CLINVAR