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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658
JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP associated with Sleep Deprivation RGD PMID:28455102 RGD:13782059 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:20727007 RGD:5686881 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:12231459 RGD:7495797 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein ISO
IEP
CTD Direct Evidence: marker/mechanism
associated with Sleep Deprivation
associated with Chronic Cerebral Hypoperfusion
CTD PMID:25288670, PMID:28455102, PMID:28836062 RGD:13782059, RGD:13782057 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Bace1 beta-secretase 1 IEP associated with Sleep Deprivation RGD PMID:28455102 RGD:13782059 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:25741868 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
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 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
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 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO RGD PMID:23689947 RGD:10401232 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:18320305 RGD:10401853 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
Ensembl chr 6:135,107,271...135,112,775
JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:19387015 PMID:25741868 PMID:26063658 PMID:32101834 PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Ide insulin degrading enzyme treatment ISO associated with obesity RGD PMID:27102787 RGD:13792826 NCBI chr 1:255,914,465...256,014,168
Ensembl chr 1:255,914,447...256,013,495
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with Pneumococcal Meningitis RGD PMID:24844751 RGD:39939118 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Il1b interleukin 1 beta IDA
ISO
RGD PMID:23251531, PMID:23251531 RGD:7204493, RGD:7204493 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32062618 NCBI chr19:39,608,951...39,609,049
Ensembl chr19:39,608,951...39,609,049
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
Ensembl chr MT:13,543...14,061
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B IEP protein:decreased expression:hippocampus, insoluble fraction (rat) RGD PMID:24069387 RGD:9999367 NCBI chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
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 PMID:10441572 PMID:11102478 PMID:11836371 PMID:11959395 PMID:11978814 PMID:16033913 PMID:16651627 PMID:16941492 PMID:19021905 PMID:19849793 PMID:20083199 PMID:20634584 PMID:21685457 PMID:21726674 PMID:22188655 PMID:22475797 PMID:22503161 PMID:22572737 PMID:23539189 PMID:23579325 PMID:23705774 PMID:24158021 PMID:25741868 PMID:26438723 PMID:26467025 PMID:26481686 PMID:26756738 PMID:27777022 PMID:27930341 PMID:28350801 PMID:28492532 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30503753 NCBI chr 8:46,228,077...46,287,171 JBrowse link
G Tafa2 TAFA chemokine like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29339520 NCBI chr 7:66,017,066...66,496,690
Ensembl chr 7:66,017,086...66,172,360
JBrowse link
G Tardbp TAR DNA binding protein ISO protein:increased phosphorylation:neocortex RGD PMID:21865887 RGD:5687171 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:25741868 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9242456 PMID:9598730 PMID:9825943 PMID:11051239 PMID:12826609 PMID:16489069 PMID:17417627 PMID:17427234 PMID:17606709 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20522432 PMID:21343334 PMID:22265402 PMID:22713868 PMID:23172776 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:26467025 PMID:26619011 PMID:26787237 PMID:27374712 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cognitive impairment ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
Progressive Psychomotor Deterioration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Progressive neurodegeneration ClinVar PMID:10090474 PMID:10888601 PMID:10958654 PMID:18524658 PMID:20127976 PMID:22180458 PMID:25741868 PMID:28492532 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Progressive psychomotor deterioration ClinVar PMID:32581362 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              cognitive disorder 1946
                Cognitive Dysfunction 35
                  Chemotherapy-Related Cognitive Impairment 0
                  Progressive Psychomotor Deterioration 2
                  mild cognitive impairment 0
paths to the root