CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		G 0.800 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy. 27353086 2016
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy. 27353086 2016
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		G 0.800 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010 2011
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010 2011
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		G 0.800 GeneticVariation CLINVAR Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		G 0.800 GeneticVariation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453 2006
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy. 15205937 2004
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy. 15205937 2004
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 12642359 2003
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 GeneticVariation UNIPROT Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 12642359 2003
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		G 0.800 CausalMutation CLINVAR
dbSNP: rs77055095
rs77055095
Entrez Id: 8048;105376580
Gene Symbol: CSRP3;CSRP3-AS1
CSRP3;CSRP3-AS1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs77055095
rs77055095
Entrez Id: 8048;105376580
Gene Symbol: CSRP3;CSRP3-AS1
CSRP3;CSRP3-AS1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10766533
rs10766533
Entrez Id: 8048;105376580
Gene Symbol: CSRP3;CSRP3-AS1
CSRP3;CSRP3-AS1
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs10766533
rs10766533
Entrez Id: 8048;105376580
Gene Symbol: CSRP3;CSRP3-AS1
CSRP3;CSRP3-AS1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10766533
rs10766533
Entrez Id: 8048;105376580
Gene Symbol: CSRP3;CSRP3-AS1
CSRP3;CSRP3-AS1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10766533
rs10766533
Entrez Id: 8048;105376580
Gene Symbol: CSRP3;CSRP3-AS1
CSRP3;CSRP3-AS1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs761507504
rs761507504
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		T 0.700 GeneticVariation CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510 2015
dbSNP: rs761507504
rs761507504
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		T 0.700 GeneticVariation CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510 2015