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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:Breathing dysregulation
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Accession:HP:0005957 term browser browse the term
Synonyms:xref: UMLS:C3808046



show annotations for term's descendants           Sort by:
Breathing dysregulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
JBrowse link
G ASCL1 achaete-scute family bHLH transcription factor 1 IAGP HPO ORPHA:99803 NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513
JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Breathing dysregulation ClinVar PMID:25741868 PMID:28726266 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005
JBrowse link
G KYNU kynureninase IAGP HPO ORPHA:79155 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833
JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO MIM:618232 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:99803 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:99803 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TNXB tenascin XB IAGP ClinVar Annotator: match by term: Breathing dysregulation ClinVar PMID:25741868 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
Decreased sensitivity to hypoxemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO MIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
Neonatal breathing dysregulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 IAGP HPO MIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:610188 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO MIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO MIM:611560 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TNXB tenascin XB IAGP ClinVar Annotator: match by term: Neonatal breathing dysregulation ClinVar PMID:25741868 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73832
    Phenotypic abnormality 73527
      Abnormality of the respiratory system 4917
        Abnormal respiratory system physiology 4802
          Breathing dysregulation 22
            Decreased sensitivity to hypoxemia 1
            Neonatal breathing dysregulation 6
paths to the root