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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:Neurofibrillary tangles
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Accession:HP:0002185 term browser browse the term
Definition:Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Synonyms:exact_synonym: Neurofibrillary tangles composed of disordered microtubules in neurons;   Paired helical filaments
 alt_id: HP:0003132;   HP:0007070
 xref: MESH:D016874;   SNOMEDCT_US:85775002;   UMLS:C0085400


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Neurofibrillary tangles 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 HPO OMIM:608907 ORPHA:1020 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G APOE apolipoprotein E IAGP DNA:SNP: :APOEe4(human) HPO
RGD		 PMID:20574532 OMIM:104310 OMIM:606889 OMIM:607822, RGD:10427727 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 HPO OMIM:104300 ORPHA:1020 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO ORPHA:100070 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP HPO OMIM:619132 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G GRN granulin precursor IAGP HPO OMIM:607485 ORPHA:100070 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G ITM2B integral membrane protein 2B IAGP HPO OMIM:117300 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO OMIM:601104 ORPHA:100070 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MPO myeloperoxidase IAGP HPO OMIM:104300 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 HPO OMIM:104300 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP HPO OMIM:257220 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP HPO OMIM:607625 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO OMIM:610217 ORPHA:199351 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP HPO OMIM:104300 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO OMIM:137440 OMIM:606688 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO OMIM:607822 ORPHA:100070 ORPHA:1020 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 IAGP HPO OMIM:606889 ORPHA:1020 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 HPO ORPHA:1020 NCBI chr11:121,452,314...121,633,763
Ensembl chr11:121,452,314...121,633,763 		JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO ORPHA:100070 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367 		JBrowse link
G TOMM40 translocase of outer mitochondrial membrane 40 IAGP HPO ORPHA:1020 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 HPO ORPHA:100070 ORPHA:1020 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:100070 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO OMIM:616840 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G ZNF224 zinc finger protein 224 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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Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the nervous system 15589
        Abnormal nervous system morphology 4218
          Morphological central nervous system abnormality 4108
            Abnormal brain morphology 3004
              Abnormal forebrain morphology 2324
                Abnormal cerebral morphology 2229
                  Cerebral inclusion bodies 64
                    Neurofibrillary tangles 24
paths to the root