THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Blepharospasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.120 GeneticVariation disease BEFREE A total of three nucleotide variants were detected, which include a reported missense mutation (c.427 A>G; p.Met143Val) in a juvenile onset generalized dystonia patient, a novel frameshift deletion mutation (c.208-209 ΔAA; p.K70VfsX15) in a juvenile onset cervical dystonia patient and a rare variant in 3' UTR of THAP1 (c.*157 T>C) in an adult-onset blepharospasm patient. 27913194 2017
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.120 GeneticVariation disease BEFREE Abductor laryngeal dystonia and mild blepharospasm can be manifestations of THAP1 mutations in some individuals. 22377579 2012
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.120 Biomarker disease HPO