Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D
0.020 GeneticVariation group BEFREE Our study demonstrates that compound heterozygous mutations in VPS13D cause movement disorders along the ataxia-spasticity spectrum, making VPS13D the fourth VPS13 paralog involved in neurological disorders.Ann Neurol 2018. 29604224 2018
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D
0.020 GeneticVariation group BEFREE Recessive mutations in VPS13D cause childhood onset movement disorders. 29518281 2018