Gene: FIG4 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554309093
rs1554309093
FIG4
T 0.700 CausalMutation CLINVAR Genetic heterogeneity of motor neuropathies. 28251916

2017
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 24878229

2014
dbSNP: rs1554309093
rs1554309093
FIG4
T 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 23489662

2013
dbSNP: rs1554300952
rs1554300952
FIG4
G 0.700 GeneticVariation CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013
dbSNP: rs750712213
rs750712213
FIG4
A 0.700 CausalMutation CLINVAR Novel FIG4 mutations in Yunis-Varon syndrome. 24088667

2013
dbSNP: rs121908287
rs121908287
FIG4
C 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: rs764717219
rs764717219
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: rs772320287
rs772320287
FIG4
GA 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: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. 18556664

2008
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
dbSNP: rs764717219
rs764717219
FIG4
T 0.700 CausalMutation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
dbSNP: rs1554303800
rs1554303800
FIG4
C 0.700 CausalMutation CLINVAR

dbSNP: rs770043095
rs770043095
FIG4
AT 0.700 CausalMutation CLINVAR