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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 25617005

2015
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 25617005

2015
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 24598713

2014
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 24598713

2014
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 19118816

2009
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 19118816

2009
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Congenital heart malformation in Yunis-Varón syndrome. 8411078

1993
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Congenital heart malformation in Yunis-Varón syndrome. 8411078

1993