Gene: FIG4 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377357931
rs377357931
FIG4
T 0.700 CausalMutation CLINVAR Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 25617005

2015
dbSNP: rs747768373
rs747768373
FIG4
A 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 25617005

2015
dbSNP: rs377357931
rs377357931
FIG4
T 0.700 CausalMutation CLINVAR Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 24598713

2014
dbSNP: rs747768373
rs747768373
FIG4
A 0.700 GeneticVariation CLINVAR Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 24598713

2014
dbSNP: rs377357931
rs377357931
FIG4
T 0.700 CausalMutation CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
dbSNP: rs747768373
rs747768373
FIG4
A 0.700 GeneticVariation CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
dbSNP: rs377357931
rs377357931
FIG4
T 0.700 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
dbSNP: rs747768373
rs747768373
FIG4
A 0.700 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
dbSNP: rs377357931
rs377357931
FIG4
T 0.700 CausalMutation CLINVAR Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 19118816

2009
dbSNP: rs747768373
rs747768373
FIG4
A 0.700 GeneticVariation CLINVAR Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 19118816

2009
dbSNP: rs377357931
rs377357931
FIG4
T 0.700 CausalMutation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
dbSNP: rs747768373
rs747768373
FIG4
A 0.700 GeneticVariation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
dbSNP: rs377357931
rs377357931
FIG4
T 0.700 CausalMutation CLINVAR Congenital heart malformation in Yunis-Varón syndrome. 8411078

1993
dbSNP: rs747768373
rs747768373
FIG4
A 0.700 GeneticVariation CLINVAR Congenital heart malformation in Yunis-Varón syndrome. 8411078

1993