LDB3, LIM domain binding 3, 11155

N. diseases: 69; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		0.900 GeneticVariation disease UNIPROT A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 14660611 2004
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		0.900 GeneticVariation disease UNIPROT Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 14662268 2003
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		0.900 CausalMutation disease CLINVAR
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		0.900 Biomarker disease MGD
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		0.900 Biomarker disease CTD_human
CUI: C1832244
Disease: CARDIOMYOPATHY, DILATED, 1C (disorder)
CARDIOMYOPATHY, DILATED, 1C (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 GeneticVariation group BEFREE Mutations in the LDB3 gene have been identified in patients with Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)-related myofibrillar myopathy (ZASP-MFM) characterized by late-onset distal myopathy with signs of cardiomyopathy and neuropathy. 27546599 2017
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.410 GeneticVariation disease BEFREE In all SAMP strains except SAMP8, we detected a p.R473W missense mutation in the Ldb3 gene, which has been associated with myofibrillar myopathy. 23586671 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 Biomarker group HPO
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.410 CausalMutation disease CLINVAR
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.410 Biomarker disease HPO
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.410 Biomarker disease CTD_human
CUI: C4721886
Disease: MYOPATHY, MYOFIBRILLAR, 4
MYOPATHY, MYOFIBRILLAR, 4 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in ZASP define a novel form of muscular dystrophy in humans. 15668942 2005
CUI: C4721886
Disease: MYOPATHY, MYOFIBRILLAR, 4
MYOPATHY, MYOFIBRILLAR, 4 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in ZASP define a novel form of muscular dystrophy in humans. 15668942 2005
CUI: C4721886
Disease: MYOPATHY, MYOFIBRILLAR, 4
MYOPATHY, MYOFIBRILLAR, 4 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C4721886
Disease: MYOPATHY, MYOFIBRILLAR, 4
MYOPATHY, MYOFIBRILLAR, 4 		0.400 CausalMutation disease CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.330 GeneticVariation group BEFREE In humans, mutations in ZASP (the gene for Z-band alternatively spliced PDZ-motif protein) are associated with dilated cardiomyopathy and left ventricular non-compaction. 19603185 2009
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.330 Biomarker group BEFREE Z-band alternatively spliced PDZ-motif protein (ZASP)/Cypher is a Z-disc component of which several dilated cardiomyopathy (DCM)-associated mutations have been reported. 19377068 2009
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.330 GeneticVariation group LHGDN A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 14660611 2004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.330 Biomarker group HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.330 Biomarker group MGD
CUI: C1836155
Disease: Myopathy, Myofibrillar, Zasp-Related
Myopathy, Myofibrillar, Zasp-Related 		0.310 GeneticVariation disease BEFREE Mutations in the LDB3 gene have been identified in patients with Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)-related myofibrillar myopathy (ZASP-MFM) characterized by late-onset distal myopathy with signs of cardiomyopathy and neuropathy. 27546599 2017
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.310 GeneticVariation disease BEFREE We have previously identified a p.D117N mutation in the LIM domain-binding protein 3-encoding Z-band alternatively spliced PDZ motif gene (ZASP) in a patient with left ventricular noncompaction and conduction disturbances. 22929165 2012