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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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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 chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344 		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 chr19:739,551...786,395
Ensembl chr19:739,551...787,537 		JBrowse link
G Car7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467 		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 chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751 		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 chr19:360,824...371,008
Ensembl chr19:360,824...371,007 		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 chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		JBrowse link
G Ces2h carboxylesterase 2H ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830 		JBrowse link
G Ces3a carboxylesterase 3a ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:32,992,386...33,000,562 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 chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545 		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 chr19:344,194...346,068
Ensembl chr19:344,203...346,068 		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 chr19:698,097...706,570
Ensembl chr19:698,033...706,570 		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 NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184 		JBrowse link
G Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939 		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 chr19:622,563...630,721
Ensembl chr19:604,458...629,790 		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 chr19:576,203...616,109
Ensembl chr19:576,203...616,109 		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 chr19:531,783...554,670
Ensembl chr19:531,812...554,670 		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 chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:116800
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
CTD
MouseDO
ClinVar		 PMID:3233780 PMID:9536098 PMID:12089525 PMID:15959809 PMID:16199547 More... NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479 		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 chr19:446,015...472,145
Ensembl chr19:446,000...472,371 		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 chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250 		JBrowse link
G Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074 		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 chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914 		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 chr19:354,184...357,424
Ensembl chr19:354,198...357,417 		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 chr19:473,720...528,069
Ensembl chr19:473,218...528,084 		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 chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		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 chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        lens disease 456
          cataract 446
            cataract 5 multiple types 26
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              lens disease 456
                cataract 446
                  cataract 5 multiple types 26
paths to the root