Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1310137430
rs1310137430
GAN
0.700 GeneticVariation UNIPROT Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). 17587580

2007
dbSNP: rs1310137430
rs1310137430
GAN
0.700 GeneticVariation UNIPROT New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. 17578852

2007
dbSNP: rs1310137430
rs1310137430
GAN
0.700 GeneticVariation UNIPROT Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. 16303566

2005
dbSNP: rs1310137430
rs1310137430
GAN
0.700 GeneticVariation UNIPROT Identification of seven novel mutations in the GAN gene. 12655563

2003
dbSNP: rs1310137430
rs1310137430
GAN
0.700 GeneticVariation UNIPROT Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. 11971098

2002
dbSNP: rs1310137430
rs1310137430
GAN
0.700 GeneticVariation UNIPROT The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. 11062483

2000