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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Alzheimer disease
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Accession:HP:0002511 term browser browse the term
Definition:A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
Comment:Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features.
Synonyms:exact_synonym: Late-onset form of familial Alzheimer disease
 narrow_synonym: Alzheimer's disease neuropathologic change
 alt_id: HP:0006878;   HP:0007213
 xref: DOID:10652;   EFO:0006801;   MONDO:0004975;   SNOMEDCT_US:230267005;   SNOMEDCT_US:26929004;   UMLS:C0002395;   UMLS:C1863051


show annotations for term's descendants           Sort by:
Alzheimer disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP HPO MIM:608907 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088 		JBrowse link
G APOE apolipoprotein E IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar
HPO		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... MIM:104310 MIM:606889 MIM:607822 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APP amyloid beta precursor protein IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar
HPO		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 More... MIM:104300 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: Alzheimer disease ClinVar PMID:25741868 PMID:28492532 NCBI chr21:26,170,867...26,217,384
Ensembl chr21:26,170,871...26,217,381 		JBrowse link
G ATP5PF ATP synthase peripheral stalk subunit F6 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr21:25,724,500...25,735,653
Ensembl chr21:25,716,503...25,735,673 		JBrowse link
G BTG3 BTG anti-proliferation factor 3 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:17,593,653...17,612,901
Ensembl chr21:17,593,653...17,612,945 		JBrowse link
G C21orf91 chromosome 21 open reading frame 91 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:17,788,974...17,819,356
Ensembl chr21:17,788,974...17,819,386 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO ORPHA:458803 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CHODL chondrolectin IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:17,917,340...18,267,370
Ensembl chr21:17,901,263...18,267,373 		JBrowse link
G CLU clusterin IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:28492532 PMID:29476165 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CXADR CXADR Ig-like cell adhesion molecule IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:17,513,043...17,636,262
Ensembl chr21:17,513,043...17,593,579 		JBrowse link
G CYYR1 cysteine and tyrosine rich 1 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr21:26,466,216...26,573,286
Ensembl chr21:26,466,209...26,573,286 		JBrowse link
G GABPA GA binding protein transcription factor subunit alpha IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:22491860 PMID:24691562 PMID:25741868 More... NCBI chr21:25,734,972...25,772,460
Ensembl chr21:25,734,570...25,772,460 		JBrowse link
G GRN granulin precursor IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16199547 PMID:16862116 PMID:16950801 PMID:22608501 PMID:28492532 More... NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HFE homeostatic iron regulator IAGP with Tf C2 variant, DNA:missense mutation:cds: p.C282Y (human)
ClinVar Annotator: match by term: Alzheimer disease		 ClinVar
RGD		 PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 More... RGD:1358657 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 ClinVar PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G HSPA13 heat shock protein family A (Hsp70) member 13 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:14,371,115...14,383,146
Ensembl chr21:14,371,115...14,383,484 		JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 IAGP DNA:silent mutation:cds: 267C>T (human) RGD PMID:10624811 RGD:1358662 NCBI chr 1:19,664,875...19,680,966
Ensembl chr 1:19,664,875...19,680,966 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G LIPI lipase I IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:14,108,812...14,210,955
Ensembl chr21:14,108,813...14,210,955 		JBrowse link
G LOC126653330 CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:9536098 PMID:17576681 PMID:25104557 PMID:25741868 PMID:28492532 More... NCBI chr21:25,954,664...25,955,863 JBrowse link
G LRP1 LDL receptor related protein 1 IAGP DNA:SNP:exon 3:C>T (human) RGD PMID:9635959 RGD:1358747 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361 		JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 onset IAGP DNA:deletion:intron RGD PMID:11425005 RGD:1358749 NCBI chr 4:3,503,612...3,532,422
Ensembl chr 4:3,503,612...3,532,446 		JBrowse link
G MAPT microtubule associated protein tau IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MIR125B2 microRNA 125b-2 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:16,590,237...16,590,325
Ensembl chr21:16,590,237...16,590,325 		JBrowse link
G MIR155 microRNA 155 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MIR99A microRNA 99a IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:16,539,089...16,539,169
Ensembl chr21:16,539,089...16,539,169 		JBrowse link
G MIRLET7C microRNA let-7c IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:16,539,828...16,539,911
Ensembl chr21:16,539,828...16,539,911 		JBrowse link
G MPO myeloperoxidase IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar
HPO		 PMID:25741868 MIM:104300 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:8104867 PMID:15972314 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G NCAM2 neural cell adhesion molecule 2 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:20,998,409...21,543,329
Ensembl chr21:20,998,409...21,543,329 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar
HPO		 PMID:25741868 MIM:104300 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NRIP1 nuclear receptor interacting protein 1 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936 		JBrowse link
G PCDH11X protocadherin 11 X-linked IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:29476165 NCBI chr  X:91,779,375...92,623,230
Ensembl chr  X:91,779,261...92,623,230 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP HPO MIM:104300 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G POTED POTE ankyrin domain family member D IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:13,609,777...13,645,823
Ensembl chr21:13,609,777...13,645,823 		JBrowse link
G PSEN1 presenilin 1 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar
HPO		 PMID:8773614 PMID:9384602 PMID:9452052 PMID:9851443 PMID:9851450 More... MIM:607822 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar
HPO		 PMID:9384602 PMID:11723295 PMID:14623725 PMID:15130954 PMID:15663477 More... MIM:606889 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G RBM11 RNA binding motif protein 11 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:14,216,157...14,228,372
Ensembl chr21:14,216,130...14,228,372 		JBrowse link
G SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:14,485,228...14,659,417
Ensembl chr21:14,485,228...14,658,821 		JBrowse link
G TMPRSS15 transmembrane serine protease 15 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:18,269,116...18,485,884
Ensembl chr21:18,269,116...18,485,879 		JBrowse link
G USP25 ubiquitin specific peptidase 25 IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr21:15,729,982...15,880,064
Ensembl chr21:15,729,982...15,880,064 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G ZNF224 zinc finger protein 224 susceptibility IAGP DNA:SNP: ::rs3746319(human) RGD PMID:20574532 RGD:10427727 NCBI chr19:44,094,361...44,109,826
Ensembl chr19:44,094,361...44,109,886 		JBrowse link
Term paths to the root
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  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the nervous system 28524
        Abnormal nervous system morphology 5271
          Morphological central nervous system abnormality 5156
            Alzheimer disease 74
paths to the root