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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:Iron accumulation in brain
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Accession:HP:0012675 term browser browse the term
Definition:An abnormal build up of iron (Fe) in brain tissue.
Synonyms:exact_synonym: Brain iron deposition
 xref: UMLS:C4021076


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Iron accumulation in brain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CRAT carnitine O-acetyltransferase IAGP HPO MIM:617917 NCBI chr 9:129,094,794...129,110,793
Ensembl chr 9:129,094,142...129,111,189 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Brain iron deposition		 ClinVar
HPO		 PMID:2668131 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 More... MIM:256600 ORPHA:199351 ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP HPO MIM:617916 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO MIM:300894 ORPHA:329284 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
Eye of the tiger anomaly of globus pallidus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO ORPHA:79244 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:620669 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G NUDT2 nudix hydrolase 2 IAGP HPO MIM:619844 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,713 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO MIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO MIM:300894 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
Iron accumulation in substantia nigra term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:496756 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO MIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO ORPHA:329284 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of the nervous system 33721
        Abnormal nervous system morphology 8736
          Morphological central nervous system abnormality 8619
            Abnormal brain morphology 4343
              Iron accumulation in brain 18
                Eye of the tiger anomaly of globus pallidus 11
                Iron accumulation in substantia nigra 4
paths to the root