FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Disease: Segmental demyelination ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333457
Disease: Segmental demyelination
Segmental demyelination 		0.020 Biomarker disease BEFREE Segmental demyelination was also confirmed in mice without Fig4 (Fig4<sup>-/-</sup> ). 29518270 2018
CUI: C0333457
Disease: Segmental demyelination
Segmental demyelination 		0.020 Biomarker disease BEFREE Humans with a deficiency of FIG4 (known as Charcot-Marie-Tooth disease type 4J or CMT4J) present with clinical and pathophysiological phenotypes indicative of spinal motor neuron degeneration and segmental demyelination. 23165282 2013