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: 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: 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: 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: 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: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		C 0.800 CausalMutation CLINVAR
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 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 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 Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453 2006
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: 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: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		G 0.800 CausalMutation CLINVAR
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 		G 0.800 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
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: 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: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		G 0.700 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
dbSNP: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		G 0.700 GeneticVariation CLINVAR Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
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: rs104894205
rs104894205
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453 2006
dbSNP: rs142019584
rs142019584
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C2677491
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1565050320
rs1565050320
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565050709
rs1565050709
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1565053085
rs1565053085
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1565053147
rs1565053147
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR