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: rs1565050709
rs1565050709
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs193922667
rs193922667
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs902082118
rs902082118
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs104894204
rs104894204
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 30048712 2018
dbSNP: rs1565050320
rs1565050320
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		G 0.700 CausalMutation 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
dbSNP: rs876657767
rs876657767
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR
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: rs45550635
rs45550635
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		0.700 GeneticVariation UNIPROT The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. 12507422 2002
dbSNP: rs45550635
rs45550635
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		0.700 GeneticVariation UNIPROT Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328 2008
dbSNP: rs45550635
rs45550635
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		0.700 GeneticVariation UNIPROT Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
dbSNP: rs45552933
rs45552933
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		0.700 GeneticVariation UNIPROT The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. 12507422 2002
dbSNP: rs45552933
rs45552933
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		0.700 GeneticVariation UNIPROT Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328 2008
dbSNP: rs45552933
rs45552933
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		0.700 GeneticVariation UNIPROT Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 18505755 2008
dbSNP: rs761507504
rs761507504
Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C1843808
Disease:
CARDIOMYOPATHY, DILATED, 1M 		T 0.700 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
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
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