FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Disease: Peripheral demyelinating neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.020 Biomarker disease BEFREE Myelin change in CMT4J recapitulates the features of acquired demyelinating neuropathies. 29518270 2018
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.020 GeneticVariation disease BEFREE CMT4J secondary to FIG4 mutations should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy, especially if there is a background history of a more slowly progressive neuropathy. 23489662 2013