Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598

2015
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker GENOMICS_ENGLAND 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
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker GENOMICS_ENGLAND Consistent with H-ABC's clinical presentation, TUBB4A is highly expressed in neurons, and a recent report has shown that an N-terminal alteration is associated with a heritable dystonia. 23582646

2013