FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Disease: Tremor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040822
Disease: Tremor
Tremor 		0.020 Biomarker phenotype BEFREE Loss of Fig4 function in the plt (pale tremor) mouse produces spongiform degeneration of the brain and peripheral neuropathy. 22028665 2011
CUI: C0040822
Disease: Tremor
Tremor 		0.020 AlteredExpression phenotype BEFREE The abnormal concentration of PtdIns(3,5)P2 in cultured fibroblasts from pale tremor mice demonstrates the conserved biochemical function of mammalian Fig4. 17572665 2007