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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 14 multiple types
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Accession:DOID:0110253 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. (DO)
Synonyms:exact_synonym: CAE3;   CTRCT14
 narrow_synonym: CZP3;   zonular pulverulent cataract 3
 primary_id: MESH:C566608
 alt_id: OMIM:601885


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cataract 14 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:601885
ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3		 OMIM
CTD
MouseDO
ClinVar		 PMID:10205266 PMID:10746562 PMID:15208569 PMID:15286166 PMID:15448617 More... NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        lens disease 456
          cataract 446
            cataract 14 multiple types 8
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              lens disease 456
                cataract 446
                  cataract 14 multiple types 8
paths to the root