Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.360 GeneticVariation phenotype BEFREE We searched for rare ANO3 variants in 729 dystonia and 294 Parkinson's disease (PD) patients using a gene panel. 30712998 2019
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.360 GeneticVariation phenotype BEFREE The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerging as another causes of pediatric onset dystonia, sometimes with a more complex phenotype, but their incidence is unknown and still a considerable number of cases remains genetically undetermined. 29396174 2018
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.360 GeneticVariation phenotype BEFREE ANO3 encodes anoctamin-3, a Ca<sup>+2</sup>-dependent phospholipid scramblase expressed in striatal-neurons, that has been implicated in autosomal dominant craniocervical dystonia (Dystonia-24, DYT24, MIM# 615034). 27919237 2016
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.360 GeneticVariation phenotype BEFREE However, three of these putative new genes still await independent confirmation (TUBB4/DYT4; CIZ1/DYT23; ANO3/DYT24) and only 11 'DYT' genes have been unequivocally demonstrated to cause different forms of dystonia. 24262166 2014
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.360 GeneticVariation phenotype BEFREE Recently, pathogenic mutations in the anoctamin 3 gene (ANO3) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia-24 (DYT24). 24442708 2014
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.360 GeneticVariation phenotype BEFREE We conclude that mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia. 23200863 2012
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.360 Biomarker phenotype CTD_human