Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 xref: MESH:C566608;   MIM:601885;   MONDO:0011162



show annotations for term's descendants           Sort by:
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 chr15:35,542,628...35,661,563
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 chr15:35,809,842...35,826,921
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:14627959 PMID:15208569 PMID:15286166 More... NCBI chr15:35,296,946...35,322,405
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 chr15:35,375,977...35,393,817
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 chr15:35,400,147...35,410,649
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 chr15:35,685,678...35,786,875
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 chr15:35,786,898...35,804,391 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:35,832,567...35,923,262
Ensembl chr15:31,716,762...31,807,908
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        lens disease 557
          cataract 546
            cataract 14 multiple types 8
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              lens disease 557
                cataract 546
                  cataract 14 multiple types 8
paths to the root