Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR Genetic heterogeneity of motor neuropathies. 28251916

2017
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 24878229

2014
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 23489662

2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 GeneticVariation CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR Novel FIG4 mutations in Yunis-Varon syndrome. 24088667

2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420

2011
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. 18556664

2008
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 CausalMutation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007