Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
0.340 Biomarker phenotype BEFREE However, the effects of CIZ1 deficiency in much older mice may be more relevant to understanding age-related declines in cognitive and motor functioning and age-related neurologic disorders such as isolated dystonia and Alzheimer disease. 29154038 2018
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
0.340 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: 25792
Gene Symbol: CIZ1
CIZ1
0.340 Biomarker phenotype CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
0.340 GeneticVariation phenotype BEFREE After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense mutation (c.682G>T, p.V228F) in an African-American pedigree with clinical phenotypes that include cervical, laryngeal and hand-forearm dystonia. 23449625 2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
0.340 GeneticVariation phenotype BEFREE Some cases of primary and neurodegenerative dystonia have been associated with mutations in individual genes critical to the G1-S checkpoint pathway (THAP1, ATM, CIZ1 and TAF1). 23849371 2013