CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 4; N. variants: 12
Source: CLINVAR ×
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 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 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 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 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: 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: 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: 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: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		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 CLINVAR 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: 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 CausalMutation disease CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 CausalMutation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 GeneticVariation group CLINVAR