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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,813,115...37,830,932
Ensembl chr15:37,813,115...37,831,031
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar Annotator: match by OMIM:601885
OMIM
ClinVar
PMID:10205266, PMID:10746562, PMID:15208569, PMID:15286166, PMID:15448617, PMID:16204255, PMID:19182255, PMID:20431721, PMID:21552498, PMID:21681855, PMID:21897748, PMID:22312188, PMID:22550389, PMID:22876138, PMID:23734083, PMID:24772942, PMID:25741868, PMID:26694549, PMID:27275416, PMID:27609163, PMID:28492532, PMID:28877251, PMID:29321356 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,835,580...37,926,715
Ensembl chr15:37,835,580...37,926,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        lens disease 220
          cataract 213
            cataract 14 multiple types 8
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                cataract 14 multiple types 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.