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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:Cognitive Dysfunction
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Accession:DOID:9002775 term browser browse the term
Definition:Diminished or impaired mental and/or intellectual function.
Synonyms:exact_synonym: Cognitive Decline;   Cognitive Dysfunctions;   Cognitive Impairment;   Cognitive Impairments;   Mental Deterioration;   cognitive declines;   mental deteriorations
 primary_id: MESH:D060825


show annotations for term's descendants           Sort by:
Cognitive Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr3 actin related protein 3 IEP protein:altered localization:hippocampus (rat) RGD PMID:24069387 RGD:9999367 NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP associated with Sleep Deprivation RGD PMID:28455102 RGD:13782059 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:20727007 RGD:5686881 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:12231459 RGD:7495797 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G App amyloid beta precursor protein ISO
IEP		 CTD Direct Evidence: marker/mechanism
associated with Chronic Cerebral Hypoperfusion
associated with Sleep Deprivation		 CTD
RGD		 PMID:25288670 PMID:28836062 PMID:28455102 RGD:13782057, RGD:13782059 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Bace1 beta-secretase 1 IEP associated with Sleep Deprivation RGD PMID:28455102 RGD:13782059 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:25741868 PMID:32197074 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:snps:introns, exon:C>T (rs1256030), A>C (rs1256065), C>G (rs1255998) (human) RGD PMID:17889406 RGD:8694087 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO RGD PMID:23689947 RGD:10401232 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:18320305 RGD:10401853 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gtf2i general transcription factor II I ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:32349160 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:32349160 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO protein:decreased expression:serum (human) RGD PMID:23948885 RGD:10413860 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:19387015 PMID:25741868 PMID:26063658 PMID:28492532 PMID:29895533 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Ide insulin degrading enzyme treatment ISO associated with obesity RGD PMID:27102787 RGD:13792826 NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with Pneumococcal Meningitis RGD PMID:24844751 RGD:39939118 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Il1b interleukin 1 beta IDA
ISO		 RGD PMID:23251531 PMID:23251531 RGD:7204493, RGD:7204493 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Mental deterioration ClinVar PMID:7783864 PMID:7936288 PMID:8940276 PMID:9088499 PMID:9392579 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism
miRNA:increased expression:hippocampus (mouse)		 CTD
RGD		 PMID:32062618 PMID:35248684 RGD:329337372 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:25741868 NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Mental deterioration ClinVar PMID:25741868 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B IEP protein:decreased expression:hippocampus, insoluble fraction (rat) RGD PMID:24069387 RGD:9999367 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Mental deterioration ClinVar PMID:7585193 PMID:8634712 PMID:9172170 PMID:9521423 PMID:10327206 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Tafa2 TAFA chemokine like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29339520 NCBI chr 7:58,942,598...59,418,640
Ensembl chr 7:58,942,610...59,417,299 		JBrowse link
G Tardbp TAR DNA binding protein ISO protein:increased phosphorylation:neocortex RGD PMID:21865887 RGD:5687171 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:25741868 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
mild cognitive impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:22415896 RGD:7245561 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agxt2 alanine-glyoxylate aminotransferase 2 ISO DNA:SNP:cds:rs16899972|rs37369 (human) RGD PMID:37120436 RGD:329961564 NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926 		JBrowse link
G Ankk1 ankyrin repeat and kinase domain containing 1 susceptibility ISO associated with pathological gambling; DNA:SNP:exon:rs1800497(human) RGD PMID:25237117 RGD:401959397 NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 susceptibility ISO associated with pathological gambling; DNA:repeats:: RGD PMID:25237117 RGD:401959397 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
Progressive Psychomotor Deterioration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Progressive psychomotor deterioration ClinVar PMID:32581362 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            disease of mental health 8412
              cognitive disorder 2310
                Cognitive Dysfunction 45
                  Chemotherapy-Related Cognitive Impairment 0
                  Progressive Psychomotor Deterioration 1
                  mild cognitive impairment 5
paths to the root