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: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.010 GeneticVariation disease BEFREE We here describe the genetic background of this disorder: some of the most mutated genes that are responsible for the disease are (G4.5 (tafazzin gene): alpha-dystrobrevin gene (DTNA); FKBP-12 gene; lamin A/C gene; Cypher/ZASP (LIM, LDB3) gene); and some genotype-phenotype correlations (Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy or Barth syndrome) based on the literature review. 17729299 2008
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		0.100 Biomarker phenotype HPO
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.010 GeneticVariation disease BEFREE In conclusion, this is the first family with ARVC where a mutation in LDB3 is associated with ARVC. 25041374 2015
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: C0544966
Disease: Autophagic vaculoes (finding)
Autophagic vaculoes (finding) 		0.100 Biomarker phenotype HPO
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.010 GeneticVariation disease BEFREE We here describe the genetic background of this disorder: some of the most mutated genes that are responsible for the disease are (G4.5 (tafazzin gene): alpha-dystrobrevin gene (DTNA); FKBP-12 gene; lamin A/C gene; Cypher/ZASP (LIM, LDB3) gene); and some genotype-phenotype correlations (Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy or Barth syndrome) based on the literature review. 17729299 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 Biomarker group 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.410 Biomarker group HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.330 Biomarker group HPO
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 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 MGD
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: 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 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 Biomarker disease CTD_human
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 Biomarker disease GENOMICS_ENGLAND
CUI: C4225414
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24 		0.200 Biomarker disease MGD
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.020 GeneticVariation disease BEFREE The aim of this study was to investigate the functional alteration of ZASP/Cypher caused by the DCM-associated mutations. 19377068 2009
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.020 GeneticVariation disease BEFREE Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM. 31379146 2020
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 Biomarker disease BEFREE In contrast, methylation of SOCS1 and PTPN6 was observed in only a fraction of CMPD (15/112, 13.4% for SOCS1; and 8/112, 7.1% for PTPN6) and AML post-CMPD (3/20, 15% for SOCS1; and 1/20, 5% for PTPN6). 18318760 2008