ONTOLOGY REPORT - ANNOTATIONS


Term:prion disease
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Accession:DOID:649 term browser browse the term
Definition:A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
Synonyms:exact_synonym: Genetic Prion Diseases;   Inherited Human Transmissible Spongiform Encephalopathies;   Prion Induced Disorder;   Prion Protein Disease;   Prion Protein Diseases;   Prion disease pathway;   Prion-Associated Disorders;   Prion-Induced Disorders;   Spongiform Encephalopathy;   Transmissible Dementia;   Transmissible Dementias;   Transmissible Spongiform Encephalopathies;   Transmissible Spongiform Encephalopathy;   prion diseases
 related_synonym: Prion Disease, Susceptibility To
 primary_id: MESH:D017096;   RDO:0005908
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prion disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:13782157
G Cebpa CCAAT/enhancer binding protein alpha JBrowse link 1 91,363,492 91,366,164 RGD:10401270
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:4892001
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:4892001
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:13782159
G Plau plasminogen activator, urokinase JBrowse link 15 3,644,296 3,650,765 RGD:6483816
G Plaur plasminogen activator, urokinase receptor JBrowse link 1 81,328,171 81,344,954 RGD:6483816
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:8554872
RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:13782160
RGD:13782161
Creutzfeldt-Jakob disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 JBrowse link 1 238,222,689 238,264,381 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Cped1 cadherin-like and PC-esterase domain containing 1 JBrowse link 4 49,055,988 49,333,729 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5686913
G Hist2h4a histone cluster 2 H4 family member A JBrowse link 4 170,800,539 170,800,979 RGD:11554173
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:10045948
G Klrc2 killer cell lectin like receptor C2 JBrowse link 4 163,433,993 163,445,136 RGD:11554173
G Krt73 keratin 73 JBrowse link 7 143,399,878 143,408,316 RGD:11554173
G Msl3l2 male-specific lethal 3-like 2 (Drosophila) JBrowse link 20 37,580,002 37,590,015 RGD:11554173
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:1599946
RGD:8554872
RGD:11554173
RGD:7240710
G Ptgs1 prostaglandin-endoperoxide synthase 1 JBrowse link 3 15,560,685 15,582,339 RGD:5688237
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5688237
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7240710
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508781
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:13506723
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:11554173
G Stx1a syntaxin 1A JBrowse link 12 24,682,050 24,710,002 RGD:1581434
G Tubb2a tubulin, beta 2A class IIa JBrowse link 17 31,493,145 31,496,827 RGD:11554173
Creutzfeldt-Jakob Disease, Sporadic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 JBrowse link 6 1,428,845 1,466,193 RGD:10395347
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 JBrowse link 2 180,976,939 181,026,001 RGD:10401946
fatal familial insomnia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:7240710
RGD:8554872
Gerstmann-Straussler-Scheinker syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:7240710
RGD:8554872
RGD:11554173
Huntington's disease-like 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:7240710
RGD:8554872
kuru term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:7240710
RGD:8554872
scrapie term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:13782156
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:13782156
G Casp9 caspase 9 JBrowse link 5 160,356,211 160,373,774 RGD:13782156
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:13782158
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688145
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:6483034
G Pdia3 protein disulfide isomerase family A, member 3 JBrowse link 3 113,376,983 113,400,707 RGD:9999196
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:1581331
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:6483034
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6483034
Spongiform Encephalopathy with Neuropsychiatric Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease by infectious agent 807
      Bacterial Infections and Mycoses 566
        Central Nervous System Infections 143
          prion disease 37
            Cerebral Amyloidosis with Spongiform Encephalopathy + 1
            Creutzfeldt-Jakob disease + 20
            Gerstmann-Straussler-Scheinker syndrome 1
            Huntington's disease-like 1 1
            Spongiform Encephalopathy with Neuropsychiatric Features 1
            chronic wasting disease 0
            fatal familial insomnia 1
            kuru 1
            scrapie 13
            variant Creutzfeldt-Jakob disease + 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          neurodegenerative disease 2091
            prion disease 37
              Cerebral Amyloidosis with Spongiform Encephalopathy + 1
              Creutzfeldt-Jakob disease + 20
              Gerstmann-Straussler-Scheinker syndrome 1
              Huntington's disease-like 1 1
              Spongiform Encephalopathy with Neuropsychiatric Features 1
              chronic wasting disease 0
              fatal familial insomnia 1
              kuru 1
              scrapie 13
              variant Creutzfeldt-Jakob disease + 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.