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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:progressive supranuclear palsy
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Accession:DOID:678 term browser browse the term
Definition:A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. (DO)
Synonyms:exact_synonym: PSNP1;   PSP;   Progressive Supranuclear Ophthalmoplegia;   Richardson Syndrome;   Richardson's Syndrome;   Steele Richardson Olszewski Disease;   Steele Richardson Olszewski Syndrome;   progressive supranuclear palsies;   progressive supranuclear palsy 1
 primary_id: MESH:D013494
 alt_id: OMIM:601104
 xref: GARD:7471;   ICD10CM:G23.1;   NCI:C85028;   ORDO:683
For additional species annotation, visit the Alliance of Genome Resources.



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progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
JBrowse link
G Mapt microtubule-associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes::
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
OMIM
ClinVar
CTD
RGD
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 More... RGD:8158100, RGD:8158099, RGD:8158095 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tra2b transformer 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249
JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO OMIM NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        central nervous system disease 11325
          movement disease 1737
            progressive supranuclear palsy 11
              Familial Progressive Supranuclear Palsy 0
              Progressive Supranuclear Palsy 2 0
              Progressive Supranuclear Palsy 3 0
              Progressive Supranuclear Palsy Atypical 1
              Tauopathy and Respiratory Failure 0
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        peripheral nervous system disease 3016
          neuropathy 2803
            cranial nerve disease 528
              ocular motility disease 162
                ophthalmoplegia 67
                  progressive supranuclear palsy 11
                    Familial Progressive Supranuclear Palsy 0
                    Progressive Supranuclear Palsy 2 0
                    Progressive Supranuclear Palsy 3 0
                    Progressive Supranuclear Palsy Atypical 1
                    Tauopathy and Respiratory Failure 0
paths to the root