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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 1
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Accession:DOID:0080348 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. (DO)
Synonyms:exact_synonym: AD1;   Alzheimer disease 1;   Alzheimer disease type 1;   Alzheimer's Disease Type 1;   Alzheimer's disease 1, early onset;   early-onset familial form of Alzheimer disease
 narrow_synonym: Alzheimer's Disease, Familial, 1
 broad_synonym: APP-RELATED CONDITION
 related_synonym: APP POLYMORPHISM;   BLEOMYCIN HYDROLASE POLYMORPHISM
 alt_id: DOID:9005726
 xref: MESH:C536594;   MIM:104300;   MONDO:0007088


show annotations for term's descendants           Sort by:
Alzheimer's disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein IAGP ClinVar Annotator: match by term: Alzheimer disease type 1
ClinVar Annotator: match by term: APP-related condition
ClinVar Annotator: match by term: APP POLYMORPHISM		 ClinVar
OMIM		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G APP-DT APP divergent transcript IAGP ClinVar Annotator: match by term: APP-related condition ClinVar PMID:28492532 NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381 		JBrowse link
G BLMH bleomycin hydrolase IAGP ClinVar Annotator: match by term: BLEOMYCIN HYDROLASE POLYMORPHISM ClinVar PMID:8639621 PMID:25741868 NCBI chr17:30,248,203...30,291,944
Ensembl chr17:30,248,203...30,292,056 		JBrowse link
G HFE homeostatic iron regulator IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HFE-AS1 HFE antisense RNA 1 IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:10194428 PMID:10660483 PMID:11336458 PMID:12377814 PMID:12584229 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G LOC106694316 enhancer region in introns 7-9 of MPO IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 PMID:9507022 More... NCBI chr17:58,272,255...58,277,462 JBrowse link
G LOC126653330 CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177 IAGP ClinVar Annotator: match by term: APP-related condition ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr21:25,954,664...25,955,863 JBrowse link
G LOC126862530 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:28575475-28576674 IAGP ClinVar Annotator: match by term: BLEOMYCIN HYDROLASE POLYMORPHISM ClinVar PMID:8639621 PMID:25741868 NCBI chr17:30,248,457...30,249,656 JBrowse link
G LPO lactoperoxidase IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:6260268 PMID:9766845 PMID:15108282 PMID:24033266 PMID:25741868 More... NCBI chr17:58,238,584...58,268,518
Ensembl chr17:58,218,548...58,268,518 		JBrowse link
G MPO myeloperoxidase IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar
OMIM		 PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 More... NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:25741868 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP OMIM NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    Diseases of the Aged 2970
      dementia 1279
        Alzheimer's disease 755
          Alzheimer's disease 1 12
Path 2
Term Annotations click to browse term
  disease 97458
    disease of anatomical entity 91107
      nervous system disease 53117
        central nervous system disease 38460
          brain disease 36163
            disease of mental health 29602
              cognitive disorder 9873
                dementia 1279
                  Alzheimer's disease 755
                    Alzheimer's disease 1 12
paths to the root