Gene: LDB3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation CLINVAR Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 28349680

2017
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation CLINVAR Mitochondrial dysfunction in myofibrillar myopathy. 27618136

2016
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation CLINVAR ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 24647531

2014
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation 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
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation CLINVAR Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. 19377068

2009
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation CLINVAR Distinct muscle imaging patterns in myofibrillar myopathies. 18765652

2008
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation CLINVAR Zaspopathy in a large classic late-onset distal myopathy family. 17337483

2007
dbSNP: rs121908334
rs121908334
LDB3
T 0.700 CausalMutation CLINVAR Mutations in ZASP define a novel form of muscular dystrophy in humans. 15668942

2005