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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:globe disease
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Accession:DOID:1242 term browser browse the term
Definition:An eye disease that involves the globe of the eye. (DO)
Synonyms:xref: EFO:0003966;   ICD10CM:H44.39;   ICD9CM:360.29
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
globe disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:9054934 PMID:11017087 PMID:11527935 PMID:19265867 PMID:22264887 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:11536079 PMID:12673275 PMID:14631379 PMID:15086542 PMID:17617515 More... NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:17724170 PMID:19503744 PMID:22045060 PMID:22140512 PMID:22347476 More... NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Rd3 RD3 regulator of GUCY2D ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:23308101 PMID:25741868 PMID:28492532 NCBI chr13:103,551,823...103,562,925
Ensembl chr13:103,552,857...103,562,622 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:9501220 PMID:10766140 PMID:10937591 PMID:11095629 PMID:16518657 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Globe disease ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
endophthalmitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor IEP protein:increased expression:retinal ganglion cell, bipolar cell of retina, photoreceptor (rat) RGD PMID:19039600 RGD:8662445 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Ifng interferon gamma IEP protein:increased expression:vitreous: RGD PMID:16544114 RGD:7829753 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:vitreous: RGD PMID:16544114 RGD:7829753 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor IEP associated with Staphylococcal Infections;protein:increased expression:cornea, retina, vitreous humor RGD PMID:18274645 RGD:9999421 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:19995266 PMID:22163046 RGD:8552880, RGD:8553060 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tnf tumor necrosis factor IEP protein:increased expression:vitreous: RGD PMID:16544114 RGD:7829753 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
posterior dislocation of lens term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO RGD PMID:24908666 RGD:156451375 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      eye disease 3696
        globe disease 16
          anterior dislocation of lens 0
          endophthalmitis + 6
          luxation of globe 0
          posterior dislocation of lens 1
          vestibular nystagmus 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              globe disease 16
                anterior dislocation of lens 0
                endophthalmitis + 6
                luxation of globe 0
                posterior dislocation of lens 1
                vestibular nystagmus 0
paths to the root