Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
0.050 GeneticVariation group BEFREE In particular, the loss of function of VPS13A leads to chorea-acanthocytosis (ChAc), a rare neurodegenerative disease without available curative treatments. 30709847 2019
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
0.050 GeneticVariation group BEFREE The neurodegenerative disease Chorea-Acanthocytosis (ChAc) is caused by loss-of-function-mutations of the chorein-encoding gene VPS13A. 30453283 2018
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
0.050 GeneticVariation group BEFREE Loss of function mutations of the chorein encoding gene VPS13A (vacuolar protein sorting-associated protein 13A) causes chorea-acanthocytosis (ChAc), a neurodegenerative disorder paralleled by deformations of erythrocytes. 28803243 2017
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
0.050 Biomarker group BEFREE Genetic analyses of VPS13A and genes responsible for other neuroacanthocytotic and neurodegenerative diseases were performed. 17673232 2007
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
0.050 GeneticVariation group BEFREE Mutations in VPS13A cause chorea-acanthocytosis (ChAc), an autosomal recessive neurodegenerative disorder. 15918062 2005