Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 GeneticVariation phenotype BEFREE GNAL loss-of-function mutations are causally-associated with isolated dystonia, a movement disorder characterized by involuntary muscle contractions leading to abnormal postures. 31034808 2019
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 GeneticVariation phenotype BEFREE Three forms of isolated human dystonia result from mutations in the <i>TOR1A</i> (DYT1), <i>THAP1</i> (DYT6), and <i>GNAL</i> (DYT25) genes. 31320448 2019
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 Biomarker phenotype BEFREE We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE. 28283962 2017
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 GeneticVariation phenotype BEFREE GNAL mutations are not a common cause of dystonia in the Brazilian population and have a lower prevalence than THAP1 and TOR1A mutations. 26810727 2016
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 GeneticVariation phenotype BEFREE Mutations in GNAL can cause craniocervical dystonia in different ethnicities. 24535567 2014
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 GeneticVariation phenotype BEFREE The detailed search up to December 24, 2012, identified 24 hereditary primary dystonias (DYT1 to DYT 25) that are mostly monogenic disorders, and a larger group (>70) of genetic syndromes in which dystonia is one of the characteristic clinical features. 23911094 2014
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 GeneticVariation phenotype BEFREE Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL). 25155315 2014
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 Biomarker phenotype BEFREE This is the first report of a de novo GNAL mutation causing genetically proven, seemingly sporadic DYT25 dystonia. 24729450 2014
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 Biomarker phenotype BEFREE Our findings further support GNAL as causative gene in adult-onset isolated dystonia. 24408567 2014
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 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: 2774
Gene Symbol: GNAL
GNAL
0.400 Biomarker phenotype BEFREE This paper identifies the first case of GNAL dystonia in the Chinese population. 23759320 2013
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
0.400 Biomarker phenotype CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013