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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:torsion dystonia 6
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Accession:DOID:0090039 term browser browse the term
Definition:A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. (DO)
Synonyms:exact_synonym: DYT6;   Torsion dystonia adult onset mixed type
 primary_id: MESH:C538003
 alt_id: OMIM:602629
 xref: NCI:C156361;   ORDO:98806


show annotations for term's descendants           Sort by:
torsion dystonia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,217,526...69,237,372
Ensembl chr16:69,217,633...69,235,431 		JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441 		JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360 		JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,403,215...69,406,580
Ensembl chr16:69,402,989...69,406,580 		JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245 		JBrowse link
G Thap1 THAP domain containing 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:602629
ClinVar Annotator: match by term: Torsion dystonia 6		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:19182804 PMID:19345147 PMID:19345148 More... NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: Torsion dystonia 6 ClinVar PMID:28492532 NCBI chr16:69,434,982...69,451,473
Ensembl chr16:69,435,005...69,451,471 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          Nervous System Heredodegenerative Disorders 3248
            Dystonia Musculorum Deformans 21
              torsion dystonia 6 18
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Dyskinesias 2190
                dystonia 435
                  generalized dystonia 25
                    Dystonia Musculorum Deformans 21
                      torsion dystonia 6 18
paths to the root