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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:cataract 5 multiple types
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Accession:DOID:0110255 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)
Synonyms:exact_synonym: CAM;   CTM;   CTRCT5;   Cataract, Marner Type;   early onset cataract;   lamellar cataract;   perinuclear cataract;   zonular cataract
 primary_id: MESH:C535342
 alt_id: OMIA:001758;   OMIM:116800

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show annotations for term's descendants           Sort by:
cataract 5 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,305,875...60,309,264
Ensembl chr 5:60,306,893...60,308,101 		JBrowse link
G BEAN1 brain expressed associated with NEDD4 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,121,684...52,182,820 JBrowse link
G CA7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,541,008...52,551,307
Ensembl chr 5:52,541,527...52,551,389 		JBrowse link
G CBFB core-binding factor subunit beta ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,356,303...60,445,793
Ensembl chr 5:60,356,272...60,445,729 		JBrowse link
G CDH16 cadherin 16 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,607,436...52,618,645
Ensembl chr 5:52,607,396...52,618,310 		JBrowse link
G CDH5 cadherin 5 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,059,987...52,098,595
Ensembl chr 5:52,060,013...52,100,405 		JBrowse link
G CES4A carboxylesterase 4A ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,468,003...60,483,557 JBrowse link
G CIAO2B cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,631,539...52,633,949
Ensembl chr 5:52,631,354...52,633,856 		JBrowse link
G CKLF chemokine like factor ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,244,853...52,272,231
Ensembl chr 5:52,244,909...52,258,567 		JBrowse link
G CMTM1 CKLF like MARVEL transmembrane domain containing 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532
G CMTM2 CKLF like MARVEL transmembrane domain containing 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,272,567...52,287,025
Ensembl chr 5:52,272,717...52,286,869 		JBrowse link
G CMTM3 CKLF like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,302,606...52,312,277
Ensembl chr 5:52,303,288...52,311,165 		JBrowse link
G CMTM4 CKLF like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,313,253...52,393,715
Ensembl chr 5:52,320,532...52,393,532 		JBrowse link
G DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,416,645...52,448,754
Ensembl chr 5:52,419,479...52,448,901 		JBrowse link
G FBXL8 F-box and leucine rich repeat protein 8 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,293,071...60,297,274
Ensembl chr 5:60,293,428...60,295,452 		JBrowse link
G HSF4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: CATARACT, MARNER TYPE | ClinVar Annotator: match by term: Cataract 5 multiple types | ClinVar Annotator: match by term: Lamellar cataract OMIM
ClinVar		 PMID:3233780 PMID:9536098 PMID:12089525 PMID:15959809 PMID:16199547 More... NCBI chr 5:60,286,882...60,292,974
Ensembl chr 5:60,287,040...60,292,499 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,502,729...52,531,447
Ensembl chr 5:52,502,546...52,525,262 		JBrowse link
G NOL3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,281,492...60,286,865 JBrowse link
G PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,575,280...52,583,614
Ensembl chr 5:52,580,423...52,582,009 		JBrowse link
G PHAF1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,308,832...60,346,599
Ensembl chr 5:60,306,538...60,345,714 		JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,620,846...52,626,799
Ensembl chr 5:52,621,231...52,624,436 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,451,929...52,502,628
Ensembl chr 5:52,452,079...52,500,948 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:52,202,040...52,272,428
Ensembl chr 5:52,204,605...52,243,017 		JBrowse link
G TRADD TNFRSF1A associated via death domain ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 5:60,296,777...60,303,076
Ensembl chr 5:60,297,375...60,303,579 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      eye disease 3346
        lens disease 412
          cataract 402
            cataract 5 multiple types 24
Path 2
Term Annotations click to browse term
  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            eye disease 3346
              lens disease 412
                cataract 402
                  cataract 5 multiple types 24
paths to the root