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: C1836155
Disease: Myopathy, Myofibrillar, Zasp-Related
Myopathy, Myofibrillar, Zasp-Related 		0.310 GermlineCausalMutation disease ORPHANET Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification. 20809097 2011
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.310 SusceptibilityMutation disease ORPHANET
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.300 GermlineCausalMutation disease ORPHANET A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy. 25041374 2015
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation disease ORPHANET A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 14660611 2004
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation disease ORPHANET Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 14662268 2003
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.200 Biomarker disease MGD Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. 11696561 2001
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		0.200 Biomarker disease MGD Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. 11696561 2001
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.200 Biomarker disease MGD Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. 11696561 2001
CUI: C3152137
Disease: LEFT VENTRICULAR NONCOMPACTION 3
LEFT VENTRICULAR NONCOMPACTION 3 		0.200 Biomarker disease MGD
CUI: C4225414
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24 		0.200 Biomarker disease MGD
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 AlteredExpression group BEFREE Our results demonstrate that the missplicing of ZASP/LDB3 leads to the expression of an isoform in DM1 patient muscle, which is not present in normal controls, nor in other myopathies. 16927100 2006
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 Biomarker group HPO
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 28349680 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR Mitochondrial dysfunction in myofibrillar myopathy. 27618136 2016
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. 24668811 2014
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 24647531 2014
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. 19377068 2009
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR Distinct muscle imaging patterns in myofibrillar myopathies. 18765652 2008
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR Zaspopathy in a large classic late-onset distal myopathy family. 17337483 2007
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.100 CausalMutation group CLINVAR Mutations in ZASP define a novel form of muscular dystrophy in humans. 15668942 2005
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018794
Disease: Heart Block
Heart Block 		0.100 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO