MTMR2, myotubularin related protein 2, 8898

N. diseases: 50; N. variants: 15
Disease: Inherited neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.020 GeneticVariation disease BEFREE Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. 11354824 2001
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.020 GeneticVariation disease BEFREE Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. 11335693 2001