Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777713
rs587777713
FIG4 ; AK9
0.700 GeneticVariation UNIPROT Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420

2011
dbSNP: rs587777713
rs587777713
FIG4 ; AK9
0.700 GeneticVariation UNIPROT Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. 21655088

2011
dbSNP: rs587777713
rs587777713
FIG4 ; AK9
0.700 GeneticVariation UNIPROT Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007