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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:Deposits immunoreactive to beta-amyloid protein
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Accession:HP:0003791 term browser browse the term
Synonyms:xref: UMLS:C1853934



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Deposits immunoreactive to beta-amyloid protein term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP ORPHA:1020 HPO NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
JBrowse link
G APP amyloid beta precursor protein IAGP ORPHA:1020 HPO NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G DYSF dysferlin IAGP OMIM:254130 HPO NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP OMIM:605820 HPO NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G PSEN1 presenilin 1 IAGP ORPHA:1020 HPO NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PSEN2 presenilin 2 IAGP ORPHA:1020 HPO NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
JBrowse link
G SORL1 sortilin related receptor 1 IAGP ORPHA:1020 HPO NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763
JBrowse link
G TOMM40 translocase of outer mitochondrial membrane 40 IAGP ORPHA:1020 HPO NCBI chr19:44,891,254...44,903,689
Ensembl chr19:44,890,569...44,903,689
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP ORPHA:1020 HPO NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of the musculoskeletal system 4082
        Abnormality of the musculature 2918
          Abnormal skeletal muscle morphology 1850
            Abnormal muscle fiber morphology 251
              Deposits immunoreactive to beta-amyloid protein 9
paths to the root