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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:Alzheimer's disease 3
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Accession:DOID:0110042 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. (DO)
Synonyms:exact_synonym: AD3;   Alzheimer disease 3;   Alzheimer disease 3, early-onset;   Alzheimer disease familial 3;   Alzheimer disease, familial, type 3;   Alzheimer disease, type 3
 narrow_synonym: EARLY ONSET ALZHEIMER DISEASE WITH BEHAVIORAL DISTURBANCE
 primary_id: MESH:C536598
 alt_id: OMIM:607822;   RDO:0013334
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Alzheimer's disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO OMIM NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Kif5c kinesin family member 5C ISO protein:decreased expression:cerebellum (human) RGD PMID:24569455 RGD:12859086 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:26930193 PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, type 3
ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance
ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3
OMIM
ClinVar
PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 PMID:7585193 PMID:7596406 PMID:7623584 PMID:7942850 PMID:8538334 PMID:8634711 PMID:8634712 PMID:8733303 PMID:8733749 PMID:8755489 PMID:8773614 PMID:8837617 PMID:8910898 PMID:8931704 PMID:8986743 PMID:9007097 PMID:9007311 PMID:9051814 PMID:9052708 PMID:9126060 PMID:9172170 PMID:9189043 PMID:9196071 PMID:9225696 PMID:9384602 PMID:9436726 PMID:9443865 PMID:9450754 PMID:9521418 PMID:9521423 PMID:9540849 PMID:9544835 PMID:9546792 PMID:9680315 PMID:9712537 PMID:9728730 PMID:9804121 PMID:9831473 PMID:9851443 PMID:9851450 PMID:9915968 PMID:10090481 PMID:10327206 PMID:10401002 PMID:10430510 PMID:10439444 PMID:10441572 PMID:10447269 PMID:10448055 PMID:10468510 PMID:10525535 PMID:10548420 PMID:10594046 PMID:10631141 PMID:10643802 PMID:10720282 PMID:10764737 PMID:10783295 PMID:10811883 PMID:11027672 PMID:11070093 PMID:11079548 PMID:11094121 PMID:11102478 PMID:11124426 PMID:11395394 PMID:11402113 PMID:11432849 PMID:11504726 PMID:11524469 PMID:11568920 PMID:11684347 PMID:11710891 PMID:11836371 PMID:11895378 PMID:11959395 PMID:11978814 PMID:12048239 PMID:12111359 PMID:12119298 PMID:12192622 PMID:12370477 PMID:12433263 PMID:12484344 PMID:12493631 PMID:12493737 PMID:12552037 PMID:12660785 PMID:12752408 PMID:12805290 PMID:12810495 PMID:12891668 PMID:14557582 PMID:14743455 PMID:14769392 PMID:14966176 PMID:15003276 PMID:15115757 PMID:15205973 PMID:15337637 PMID:15534260 PMID:15622541 PMID:15718035 PMID:15772361 PMID:15776278 PMID:16033913 PMID:16116115 PMID:16216949 PMID:16227967 PMID:16267640 PMID:16344340 PMID:16533963 PMID:16628450 PMID:16651627 PMID:16669732 PMID:16710641 PMID:16752394 PMID:16805926 PMID:16897084 PMID:16923167 PMID:16930450 PMID:16941492 PMID:16952411 PMID:17108687 PMID:17186461 PMID:17197420 PMID:17254019 PMID:17288597 PMID:17320044 PMID:17366635 PMID:17431506 PMID:17502474 PMID:17522104 PMID:17545141 PMID:17553989 PMID:17854491 PMID:17931627 PMID:17962197 PMID:17968601 PMID:18350357 PMID:18525293 PMID:18580586 PMID:18587238 PMID:18637955 PMID:18667258 PMID:18760694 PMID:18797263 PMID:19021905 PMID:19111578 PMID:19196715 PMID:19276550 PMID:19276551 PMID:19457079 PMID:19659892 PMID:19667325 PMID:19849793 PMID:19912322 PMID:19915487 PMID:20047059 PMID:20083199 PMID:20145736 PMID:20157243 PMID:20164095 PMID:20194882 PMID:20332427 PMID:20484632 PMID:20628413 PMID:20634584 PMID:20729396 PMID:20847418 PMID:21094210 PMID:21357415 PMID:21373759 PMID:21559374 PMID:21685457 PMID:21725313 PMID:21726674 PMID:21919498 PMID:21952501 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22188655 PMID:22232349 PMID:22312439 PMID:22343824 PMID:22426017 PMID:22460587 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22508690 PMID:22517194 PMID:22572737 PMID:22581678 PMID:22584618 PMID:22689192 PMID:22766738 PMID:22810102 PMID:22906081 PMID:23085935 PMID:23114514 PMID:23341831 PMID:23380992 PMID:23383383 PMID:23409063 PMID:23539189 PMID:23570890 PMID:23579325 PMID:23588422 PMID:23705774 PMID:23792692 PMID:23843529 PMID:23861362 PMID:23885714 PMID:23990795 PMID:24011544 PMID:24093083 PMID:24121961 PMID:24158021 PMID:24217025 PMID:24304563 PMID:24352661 PMID:24418614 PMID:24698269 PMID:24773620 PMID:24860142 PMID:24880964 PMID:24928124 PMID:25174650 PMID:25182737 PMID:25239621 PMID:25299611 PMID:25326637 PMID:25333068 PMID:25471389 PMID:25741723 PMID:25741868 PMID:25921538 PMID:25937274 PMID:25959826 PMID:26051801 PMID:26166206 PMID:26194182 PMID:26214276 PMID:26242991 PMID:26243271 PMID:26337232 PMID:26438723 PMID:26462451 PMID:26467025 PMID:26481686 PMID:26756738 PMID:26826204 PMID:26923592 PMID:27014058 PMID:27073747 PMID:27100199 PMID:27100200 PMID:27206484 PMID:27264813 PMID:27312774 PMID:27357204 PMID:27454811 PMID:27535542 PMID:27614114 PMID:27644130 PMID:27777022 PMID:27793474 PMID:27810638 PMID:27930341 PMID:28350801 PMID:28492532 PMID:28550247 PMID:28554858 PMID:29316780 PMID:29404783 PMID:29571857 PMID:30045758 PMID:30090657 PMID:30528841 PMID:30590039 PMID:31153663 PMID:31235249 PMID:31686034 PMID:31914229 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis ClinVar PMID:24121961 PMID:25741868 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
CTD
ClinVar
PMID:11920851 PMID:15534188 PMID:25741868 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques
ClinVar PMID:7550356 PMID:8755489 PMID:9172170 PMID:9546792 PMID:10720282 PMID:11524469 PMID:12111359 PMID:12370477 PMID:12493737 PMID:14557582 PMID:15159497 PMID:15732120 PMID:19667325 PMID:20634584 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Diseases of the Aged 1285
      dementia 708
        Alzheimer's disease 489
          Alzheimer's disease 3 4
            Alzheimer's Disease, Familial, 3, with Spastic Paraparesis + 2
Path 2
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
                dementia 708
                  Alzheimer's disease 489
                    Alzheimer's disease 3 4
                      Alzheimer's Disease, Familial, 3, with Spastic Paraparesis + 2
paths to the root