Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | phenotype | BEFREE | Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum of diseases ranging from hereditary generalized dystonia with whispering dysphonia (DYT-TUBB4A) and hereditary spastic paraplegia (HSP) to leukodystrophy hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). | 30079973 | 2018 | ||||
|
0.170 | Biomarker | phenotype | BEFREE | Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia. | 29127012 | 2018 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). | 28655586 | 2017 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | No pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study. | 24598712 | 2014 | ||||
|
0.170 | Biomarker | phenotype | BEFREE | Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). | 24526230 | 2014 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. | 23595291 | 2013 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. | 21956287 | 2011 | ||||
|
0.170 | Biomarker | phenotype | HPO |