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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 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:67,148,104...67,150,998
Ensembl chr16:67,148,104...67,150,998 		JBrowse link
G BEAN1 brain expressed associated with NEDD4 1 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,427,295...66,495,288
Ensembl chr16:66,427,295...66,493,529 		JBrowse link
G CA7 carbonic anhydrase 7 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,844,414...66,854,147
Ensembl chr16:66,844,414...66,854,153 		JBrowse link
G CBFB core-binding factor subunit beta IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G CDH16 cadherin 16 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,908,122...66,918,885
Ensembl chr16:66,908,122...66,918,917 		JBrowse link
G CDH5 cadherin 5 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784 		JBrowse link
G CES2 carboxylesterase 2 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,934,471...66,945,096
Ensembl chr16:66,934,444...66,945,096 		JBrowse link
G CES3 carboxylesterase 3 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,961,266...66,975,149
Ensembl chr16:66,961,245...66,975,149 		JBrowse link
G CES4A carboxylesterase 4A IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,988,589...67,010,417
Ensembl chr16:66,988,589...67,010,417 		JBrowse link
G CIAO2B cytosolic iron-sulfur assembly component 2B IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,932,065...66,934,402
Ensembl chr16:66,932,065...66,934,423 		JBrowse link
G CKLF chemokine like factor IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,552,563...66,566,287
Ensembl chr16:66,552,563...66,566,251 		JBrowse link
G CKLF-CMTM1 CKLF-CMTM1 readthrough IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,552,576...66,579,135
Ensembl chr16:66,552,587...66,579,135 		JBrowse link
G CMTM1 CKLF like MARVEL transmembrane domain containing 1 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,566,439...66,579,135
Ensembl chr16:66,566,393...66,579,137 		JBrowse link
G CMTM2 CKLF like MARVEL transmembrane domain containing 2 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,579,463...66,588,275
Ensembl chr16:66,579,448...66,588,275 		JBrowse link
G CMTM3 CKLF like MARVEL transmembrane domain containing 3 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,603,996...66,613,892
Ensembl chr16:66,603,874...66,613,892 		JBrowse link
G CMTM4 CKLF like MARVEL transmembrane domain containing 4 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,598,178...66,696,743
Ensembl chr16:66,614,750...66,696,743 		JBrowse link
G DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,720,893...66,751,609
Ensembl chr16:66,720,893...66,751,609 		JBrowse link
G FBXL8 F-box and leucine rich repeat protein 8 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:67,159,957...67,164,174
Ensembl chr16:67,159,932...67,164,570 		JBrowse link
G HSF4 heat shock transcription factor 4 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Cataract 5 multiple types
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:116800
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:3233780 PMID:9536098 PMID:12089525 PMID:15959809 PMID:16199547 More... NCBI chr16:67,163,761...67,169,941
Ensembl chr16:67,164,681...67,169,945 		JBrowse link
G LOC125177334 Sharpr-MPRA regulatory region 11796 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:28492532 NCBI chr16:67,164,566...67,164,860 JBrowse link
G LOC130059183 ATAC-STARR-seq lymphoblastoid active region 10954 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar NCBI chr16:67,169,595...67,169,644 JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NOL3 nucleolar protein 3 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737 		JBrowse link
G PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,880,515...66,891,101
Ensembl chr16:66,878,589...66,895,754 		JBrowse link
G PHAF1 phagosome assembly factor 1 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:67,109,941...67,148,544
Ensembl chr16:67,109,941...67,148,544 		JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,685...66,925,535 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TK2 thymidine kinase 2 IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TRADD TNFRSF1A associated via death domain IAGP ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr16:67,154,185...67,159,909
Ensembl chr16:67,154,185...67,159,909 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      eye disease 4942
        lens disease 594
          cataract 573
            cataract 5 multiple types 29
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              lens disease 594
                cataract 573
                  cataract 5 multiple types 29
paths to the root