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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: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 PRIONS. These diseases are characterized by conversion of a normal protein to a prion 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 incorrectly 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
 xref: ICD10CM:A81.9;   NCI:C128346
For additional species annotation, visit the Alliance of Genome Resources.


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prion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:15618403 RGD:13782157 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl3 BCL3, transcription coactivator severity ISO RGD PMID:17573907 RGD:40902830 NCBI chr 1:80,730,758...80,745,273
Ensembl chr 1:80,730,499...80,744,831
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse) RGD PMID:23392676 RGD:10401270 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP protein:increased expression:astrocyte RGD PMID:11870871 RGD:4892001 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP protein:increased expression:microglial cell RGD PMID:11870871 RGD:4892001 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:17573907 RGD:40902830 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO RGD PMID:17573907 RGD:40902830 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
G Notch1 notch receptor 1 ISO RGD PMID:15640354 RGD:13782159 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Plau plasminogen activator, urokinase ISO mRNA:increased expression:hippocampus RGD PMID:19459212 RGD:6483816 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO mRNA:increased expression:hippocampus RGD PMID:19459212 RGD:6483816 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Genetic prion diseases
ClinVar Annotator: match by term: Prion disease, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7501157 PMID:7902693 PMID:7902971 PMID:7902972 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8570627 PMID:8618678 PMID:8698234 PMID:8909447 PMID:8939199 PMID:9266722 PMID:9270595 PMID:9279329 PMID:9452375 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10506086 PMID:10526198 PMID:10581230 PMID:10581485 PMID:10588836 PMID:10612329 PMID:10665501 PMID:10698707 PMID:10889050 PMID:10953183 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11701772 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:11994310 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12601712 PMID:12690204 PMID:12813570 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15753435 PMID:15824374 PMID:15987701 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16831973 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17257012 PMID:17274528 PMID:17494694 PMID:18955686 PMID:19675240 PMID:19696976 PMID:19703264 PMID:19812771 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21416485 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25959220 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29382530 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Sod1 superoxide dismutase 1 disease_progression ISO DNA:SNP:intron RGD PMID:23349894, PMID:18559949 RGD:13782160, RGD:13782161 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
Creutzfeldt-Jakob disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 1:238,222,689...238,264,381
Ensembl chr 1:238,222,521...238,264,330
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Cped1 cadherin-like and PC-esterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:49,055,988...49,333,729
Ensembl chr 4:49,056,010...49,333,304
JBrowse link
G Ctss cathepsin S ISO RGD PMID:12368333 RGD:5686913 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Galc galactosylceramidase ISO mRNA:decreased expression:frontal cortex (human) RGD PMID:30009661 RGD:38599170 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Hist2h4a histone cluster 2 H4 family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:170,800,539...170,800,979
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr 2:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr17:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
Ensembl chr 4:43,770,250...43,770,561
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:brain: RGD PMID:8790403 RGD:10045948 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Klrc2 killer cell lectin like receptor C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:163,433,993...163,445,136
Ensembl chr 4:163,416,351...163,445,302
JBrowse link
G Krt73 keratin 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 7:143,399,878...143,408,316
Ensembl chr 7:143,399,808...143,408,277
JBrowse link
G LOC299277 similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO mRNA,protein:increased expression:frontal cortex: RGD PMID:29142239 RGD:36947868 NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
JBrowse link
G Msl3l2 male-specific lethal 3-like 2 (Drosophila) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr20:37,580,002...37,590,015
Ensembl chr20:37,587,687...37,589,198
JBrowse link
G Prnp prion protein ISO DNA:mutation
ClinVar Annotator: match by term: Jakob-Creutzfeldt disease
ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2253724 PMID:2378641 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8909447 PMID:9279329 PMID:9482303 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:12451207 PMID:12572668 PMID:12601712 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15753435 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16533975 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19703264 PMID:19923577 PMID:20139714 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22965875 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23349890 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:26268049 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27803826 PMID:28492532 PMID:29382530, PMID:1684755 RGD:1599946 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:increased expression:macrophage, endothelial cell RGD PMID:12663931 RGD:5688237 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:neuron RGD PMID:12663931 RGD:5688237 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO OMIM NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:20855493 RGD:5508781 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Serpina3m serpin family A member 3M disease_progression ISO mRNA,protein:increased expression:frontal cortex: RGD PMID:29142239, PMID:29142239 RGD:36947868, RGD:36947868 NCBI chr 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebral spinal fluid: RGD PMID:18625222 RGD:13506723 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:10842016 RGD:1581434 NCBI chr12:24,682,050...24,710,002
Ensembl chr12:24,682,041...24,710,019
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
JBrowse link
Creutzfeldt-Jakob Disease, Sporadic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:19151623 RGD:10395347 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr 2:180,976,939...181,026,001
Ensembl chr 2:180,976,939...181,026,024
JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia OMIM
ClinVar
PMID:1351274 PMID:1404799 PMID:1469441 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1975028 PMID:2253724 PMID:2572450 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8618678 PMID:9279329 PMID:9813003 PMID:10090891 PMID:10360778 PMID:10665501 PMID:10889050 PMID:11756597 PMID:11839833 PMID:14967768 PMID:15366237 PMID:17494694 PMID:20139714 PMID:20514992 PMID:20593190 PMID:21298055 PMID:22072968 PMID:22318125 PMID:22584955 PMID:23132868 PMID:23296137 PMID:23723004 PMID:25064618 PMID:25279981 PMID:25522698 PMID:26791950 PMID:27803826 PMID:28492532 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
Gerstmann-Straussler-Scheinker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1357663 PMID:1363809 PMID:1363810 PMID:1672296 PMID:1674033 PMID:2180366 PMID:2190844 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7501157 PMID:7902971 PMID:7902972 PMID:7954833 PMID:8570627 PMID:8698234 PMID:8939199 PMID:9452375 PMID:9653185 PMID:10079068 PMID:10203975 PMID:10506086 PMID:10581485 PMID:10698707 PMID:10953183 PMID:11704923 PMID:11709001 PMID:11967261 PMID:12372829 PMID:15824374 PMID:16939293 PMID:17353478 PMID:18955686 PMID:19225789 PMID:19675240 PMID:19696976 PMID:19911184 PMID:20541558 PMID:21416485 PMID:22097954 PMID:22965875 PMID:25741868 PMID:25959220 PMID:28492532 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 OMIM
ClinVar
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2180366 PMID:2190844 PMID:2253724 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:2812321 PMID:7902693 PMID:7902971 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7954833 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:8698234 PMID:8939199 PMID:9270595 PMID:9279329 PMID:9482303 PMID:9531435 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10612329 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:11967261 PMID:12372829 PMID:12420099 PMID:12451207 PMID:12601712 PMID:12690204 PMID:12813570 PMID:12815603 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14610121 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15557533 PMID:15987701 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16565881 PMID:16939293 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20514992 PMID:20541558 PMID:20583301 PMID:20592908 PMID:20593190 PMID:20697057 PMID:21269331 PMID:21298055 PMID:21839748 PMID:21909425 PMID:22072968 PMID:22097954 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25959220 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29382530 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
kuru term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein susceptibility ISO ClinVar Annotator: match by term: Kuru, protection against
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16391566 PMID:26061765 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
scrapie term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:27921253 RGD:13782156 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Casp3 caspase 3 ISO RGD PMID:27921253 RGD:13782156 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 ISO RGD PMID:27921253 RGD:13782156 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO RGD PMID:22787236 RGD:13782158 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:18396336 RGD:5688145 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Cd209a CD209a antigen ISO RGD PMID:27522473 RGD:40400758 NCBI chr12:2,341,960...2,347,543
Ensembl chr12:2,341,960...2,347,543
JBrowse link
G Jak2 Janus kinase 2 ISO protein:increased expression:brain RGD PMID:17897356 RGD:6483034 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Negr1 neuronal growth regulator 1 ISO RGD PMID:29087046 RGD:40886276 NCBI chr 2:262,914,240...263,650,441
Ensembl chr 2:262,914,327...263,650,441
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO protein:increased expression:brain: RGD PMID:15772339 RGD:9999196 NCBI chr 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
JBrowse link
G Prnp prion protein onset ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:11701772 PMID:18717736 PMID:19486493 PMID:21533749, PMID:29157304 RGD:15045596 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO RGD PMID:16730863 RGD:38676483 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11701772 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16412998 RGD:1581331 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased expression:brain RGD PMID:17897356 RGD:6483034 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:brain, nucleus RGD PMID:17897356 RGD:6483034 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
Spongiform Encephalopathy with Neuropsychiatric Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features OMIM
ClinVar
PMID:9266722 PMID:10581485 PMID:10612329 PMID:10953183 PMID:12813570 PMID:14610121 PMID:15824374 PMID:16831973 PMID:22108575 PMID:25741868 PMID:28492532 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease by infectious agent 1824
      Bacterial Infections and Mycoses 703
        Central Nervous System Infections 194
          prion disease 48
            Cerebral Amyloidosis with Spongiform Encephalopathy + 1
            Creutzfeldt-Jakob disease + 23
            Huntington's disease-like 1 1
            Spongiform Encephalopathy with Neuropsychiatric Features 1
            chronic wasting disease 0
            fatal familial insomnia 1
            kuru 1
            scrapie 18
            variant Creutzfeldt-Jakob disease + 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            prion disease 48
              Cerebral Amyloidosis with Spongiform Encephalopathy + 1
              Creutzfeldt-Jakob disease + 23
              Huntington's disease-like 1 1
              Spongiform Encephalopathy with Neuropsychiatric Features 1
              chronic wasting disease 0
              fatal familial insomnia 1
              kuru 1
              scrapie 18
              variant Creutzfeldt-Jakob disease + 0
paths to the root