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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:exudative vitreoretinopathy 1
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Accession:DOID:0111412 term browser browse the term
Definition:An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in FZD4 on chromosome 11q14.2. (DO)
Synonyms:exact_synonym: Criswick-Schepens syndrome;   EVR1;   FEVR, autosomal dominant;   familial exudative vitreoretinopathy, autosomal dominant
 narrow_synonym: Criswick-Schepens syndrome retinopathy of maturity;   ROP
 primary_id: MESH:C536382
 alt_id: OMIM:133780
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
exudative vitreoretinopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc81 coiled-coil domain containing 81 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,064,132...154,111,999
Ensembl chr 1:154,064,256...154,111,725
JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,478,426...154,507,075
NCBI chr 1:156,485,039...156,509,513
Ensembl chr 1:154,478,782...154,507,039
JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,606,461...154,607,723
Ensembl chr 1:154,606,490...154,607,602
JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:156,290,215...156,296,891
Ensembl chr 1:156,294,519...156,296,161
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,916,274...157,274,077
Ensembl chr 1:156,552,328...157,269,747
JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,189,252...154,216,340
Ensembl chr 1:154,189,260...154,216,340
JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar Annotator: match by OMIM:133780
ClinVar
OMIM
PMID:12172548, PMID:14507768, PMID:15035989, PMID:15370539, PMID:15488808, PMID:15981244, PMID:17955262, PMID:20340138, PMID:20938005, PMID:21097938, PMID:21179236, PMID:21681106, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669, PMID:28492532, PMID:12172548 RGD:1598999 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Hikeshi heat shock protein nuclear import factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,147,098...154,170,429
Ensembl chr 1:154,142,836...154,170,409
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:153,861,535...154,058,608
Ensembl chr 1:153,861,569...154,056,654
JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,377,229...154,458,966
Ensembl chr 1:154,377,247...154,458,425
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Criswick-Schepens syndrome
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar PMID:12172548, PMID:14507768, PMID:15035989, PMID:15488808, PMID:15981244, PMID:20340138, PMID:20938005, PMID:21097938, PMID:21681106, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669, PMID:28492532 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:154,536,592...154,599,515
NCBI chr 1:156,334,298...156,440,327
Ensembl chr 1:154,579,949...154,599,430
Ensembl chr 1:154,579,949...154,599,430
JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:156,283,105...156,291,057
Ensembl chr 1:156,283,128...156,291,052
JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:156,262,220...156,274,207
Ensembl chr 1:156,262,031...156,275,002
JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chr 1:152,886,496...153,096,225
Ensembl chr 1:152,886,996...153,096,269
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654, PMID:27316669, PMID:28492532 NCBI chr 3:80,549,102...80,555,186 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Eye Abnormalities 363
          exudative vitreoretinopathy 24
            exudative vitreoretinopathy 1 18
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              retinal vascular disease 170
                exudative vitreoretinopathy 24
                  exudative vitreoretinopathy 1 18
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.