CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation group BEFREE Mutations in cysteine and glycine-rich protein 3 (CSRP3), the gene encoding MLP, are causative of human cardiomyopathies, whereas altered expression patterns are observed in human failing heart and skeletal myopathies. 25936993 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation group BEFREE Circulation 101:2674-2677, 2000) and MLP mutations are able to cause hypertrophic and dilated forms of cardiomyopathy in humans (Bos et al. 21484537 2011
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 Biomarker group BEFREE Missense mutations in human MLP or its ablation in transgenic mice promotes cardiomyopathy and heart failure. 24934443 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation group BEFREE Mutations in CSRP3 gene cause cardiomyopathies and deregulation of CSRP3 has been found in patients with heart failure and several skeletal muscle diseases. 30826063 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation group BEFREE Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 30048712 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 GeneticVariation group BEFREE Mutations in cysteine and glycine-rich protein 3 (CSRP3), the gene encoding MLP, have been directly associated with human cardiomyopathies, whereas aberrant expression patterns are reported in human cardiac and skeletal muscle diseases. 24860983 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.470 Biomarker group BEFREE Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies. 29119312 2017
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group BEFREE An MLP-deficient mouse has been described; these mice develop dilated cardiomyopathy and heart failure. 14567970 2004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group MGD Targeted disruption of the mouse Csrp2 gene encoding the cysteine- and glycine-rich LIM domain protein CRP2 result in subtle alteration of cardiac ultrastructure. 18713466 2008
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group BEFREE In vivo analysis revealed that MLP-deficient mice reproduce the morphological and clinical picture of dilated cardiomyopathy and heart failure in humans, providing the first model for this condition in a genetically manipulatable organism. 9039266 1997
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 GeneticVariation group BEFREE Previous studies have shown an association between CSRP3 missense mutations and either dilated cardiomyopathy (DCM) or HCM, but all these studies were unable to provide comprehensive genetic evidence for a causative role of CSRP3 mutations. 18505755 2008
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group MGD PKC-alpha regulates cardiac contractility and propensity toward heart failure. 14966518 2004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group BEFREE Mice with a disruption of the MLP gene resemble the morphological and clinical picture of dilated cardiomyopathy and heart failure in humans. 10851202 2000
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group BEFREE MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy. 27353086 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 CausalMutation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group MGD MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. 9039266 1997
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group BEFREE MLP-knockout mice develop a marked cardiac hypertrophy reaction and dilated cardiomyopathy (DCM). 12642359 2003
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 GeneticVariation group BEFREE Muscle LIM protein (MLP, CSRP3) is a key regulator of striated muscle function, and its mutations can lead to both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in patients. 31406109 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 GeneticVariation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group MGD Cellular and functional defects in a mouse model of heart failure. 11087268 2000
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 GeneticVariation group LHGDN Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 12642359 2003
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 Biomarker group HPO