Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 4
go back to main search page
Accession:DOID:0110040 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. (DO)
Synonyms:exact_synonym: AD4;   Alzheimer disease 4;   Alzheimer disease type 4;   Alzheimer disease, familial, 4;   Alzheimer disease, familial, type 4;   Alzheimer disease, familial4;   Alzheimer's disease 4, early onset;   Alzheimer's disease type 4
 primary_id: MESH:C536596
 alt_id: OMIM:606889
 xref: NCI:C123413
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Alzheimer's disease 4 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
ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar Annotator: match by term: Alzheimer disease familial type 4
CTD
ClinVar
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 PMID:8644717 PMID:9343467 PMID:9932938 PMID:10213549 PMID:10799751 PMID:11835377 PMID:11940689 PMID:11940706 PMID:14741101 PMID:15048896 PMID:15184602 PMID:15326261 PMID:15557508 PMID:15668424 PMID:19605830 PMID:22381401 PMID:23060451 PMID:23296339 PMID:23571587 PMID:24033266 PMID:25741868 PMID:27260402 PMID:28492532 PMID:32376954 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 ClinVar Annotator: match by synonym: ALZHEIMER DISEASE, FAMILIAL, 4
ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar PMID:8910898 PMID:9189043 PMID:9804121 PMID:15205973 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 Psen2 presenilin 2 ISO ClinVar Annotator: match by OMIM:606889
ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar Annotator: match by term: Alzheimer disease familial type 4
OMIM
ClinVar
PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 PMID:9050898 PMID:9384602 PMID:9450781 PMID:9813158 PMID:10631141 PMID:10846187 PMID:11193137 PMID:11723295 PMID:12549925 PMID:12925374 PMID:14623725 PMID:14681895 PMID:14769392 PMID:15130954 PMID:15389756 PMID:15663477 PMID:15776278 PMID:16155344 PMID:16474849 PMID:16533963 PMID:16959576 PMID:17186461 PMID:17345043 PMID:18350357 PMID:18427071 PMID:18667258 PMID:18727676 PMID:18833506 PMID:18834536 PMID:19073399 PMID:19659892 PMID:20333730 PMID:20375137 PMID:20420489 PMID:20457965 PMID:20458010 PMID:20634584 PMID:21234330 PMID:21483645 PMID:21544564 PMID:21559247 PMID:21911706 PMID:21959359 PMID:22115042 PMID:22118943 PMID:22249458 PMID:22312439 PMID:22412221 PMID:22475797 PMID:22503161 PMID:22505025 PMID:22753229 PMID:22805202 PMID:22834455 PMID:23365231 PMID:23383383 PMID:23558482 PMID:23861362 PMID:23990795 PMID:24093083 PMID:24559647 PMID:24594196 PMID:24669286 PMID:24704512 PMID:24754482 PMID:24844686 PMID:24880964 PMID:24928124 PMID:25104557 PMID:25323700 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26166204 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:27060961 PMID:27293189 PMID:27883225 PMID:28008242 PMID:28243073 PMID:28350801 PMID:28492532 PMID:29181857 PMID:30045758 PMID:30279455 PMID:30412492 PMID:30822648 PMID:30954774 PMID:31020001 PMID:225104557 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Diseases of the Aged 1243
      dementia 676
        Alzheimer's disease 480
          Alzheimer's disease 4 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              cognitive disorder 1907
                dementia 676
                  Alzheimer's disease 480
                    Alzheimer's disease 4 3
paths to the root