THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Oromandibular dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia 		0.120 GeneticVariation phenotype BEFREE Most of the patients reported here with THAP1 mutations had the clinical features of predominantly laryngeal or oromandibular dystonia. 23180184 2013
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia 		0.120 GeneticVariation phenotype BEFREE Three of our patients had a nonsense or frameshift THAP1 mutation and the clinical features of laryngeal or oromandibular dystonia. 20211909 2010
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia 		0.120 Biomarker phenotype HPO