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, Early-Onset, with Cerebral Amyloid Angiopathy
Accession: DOID:9005393
browse the term
Synonyms: exact_synonym: Alzheimer Disease, Early-Onset, with Cerebral Amyloid Angiopathy
primary_id: MESH:C566299
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App
amyloid beta precursor protein
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971
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Atp5pf
ATP synthase peripheral stalk subunit F6
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:37,368,045...37,375,721
Ensembl chr11:37,368,042...37,375,466
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Cyyr1
cysteine and tyrosine rich 1
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:24,557,620...24,664,007
Ensembl chr11:38,001,699...38,164,473
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Gabpa
GA binding protein transcription factor subunit alpha
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:23,888,586...23,917,612
Ensembl chr11:37,375,084...37,404,059
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Jam2
junctional adhesion molecule 2
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:23,830,820...23,880,071
Ensembl chr11:37,317,511...37,367,510
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Mir155
microRNA 155
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
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Mir155hg
Mir155 host gene
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:23,773,468...23,775,697
G
Mrpl39
mitochondrial ribosomal protein L39
ISO
ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy
ClinVar
PMID:16369530 PMID:19047566
NCBI chr11:37,266,116...37,281,612
Ensembl chr11:37,257,696...37,281,544
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