BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Axonal neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 GeneticVariation disease BEFREE Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. 28224639 2018
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 GeneticVariation disease BEFREE We studied three families with BAG3 p.Pro209Leu mutation showing a severe phenotype of myofibrillar myopathy and axonal neuropathy with giant axons. 20605452 2010