LDB3, LIM domain binding 3, 11155

N. diseases: 69; N. variants: 15
Disease: Neuromuscular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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