Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.050 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 2018
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.050 GeneticVariation 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 2015
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.050 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
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.050 GeneticVariation phenotype BEFREE Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291 2014
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.050 GeneticVariation phenotype BEFREE Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. 21956287 2012