UNC45B, unc-45 myosin chaperone B, 146862

N. diseases: 13; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225389
Disease: CATARACT 43
CATARACT 43 		0.600 GeneticVariation disease UNIPROT The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 24549050 2014
CUI: C4225389
Disease: CATARACT 43
CATARACT 43 		0.600 CausalMutation disease CLINVAR
CUI: C4225389
Disease: CATARACT 43
CATARACT 43 		0.600 Biomarker disease CTD_human
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.300 GermlineCausalMutation disease ORPHANET The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 24549050 2014
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation disease ORPHANET The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 24549050 2014
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.300 Biomarker group CTD_human The myosin co-chaperone UNC-45 is required for skeletal and cardiac muscle function in zebrafish. 17189627 2007
CUI: C0234544
Disease: Todd Paralysis
Todd Paralysis 		0.300 Biomarker phenotype CTD_human The myosin co-chaperone UNC-45 is required for skeletal and cardiac muscle function in zebrafish. 17189627 2007
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human The myosin co-chaperone UNC-45 is required for skeletal and cardiac muscle function in zebrafish. 17189627 2007
CUI: C0522224
Disease: Paralysed
Paralysed 		0.300 Biomarker phenotype CTD_human Morpholino-oligonucleotide-mediated knockdown of unc45b results in paralysis and cardiac dysfunction. 17189627 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		0.100 Biomarker disease HPO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE The central domain of UNC-45 chaperone inhibits the myosin power stroke. 29321955 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.010 GeneticVariation disease BEFREE The p.Arg805Trp alteration in the mammalian UNC45B gene suggests that developmental cataract may be caused by a defect in non-muscle myosin assembly during maturation of the lens fiber cells. 24549050 2014
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract 		0.010 GeneticVariation disease BEFREE The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 24549050 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 AlteredExpression group BEFREE To further confirm the involvement of oxidative stress or protein unfolding and to understand the mechanism of PolyQ induced cardiomyopathy, we co-expressed expanded PolyQ-72 with the antioxidant superoxide dismutase (SOD) or the myosin chaperone UNC-45. 24367279 2013