Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 1 multiple types
go back to main search page
Accession:DOID:0110231 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. (DO)
Synonyms:exact_synonym: CAE1;   CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;   CTRCT1;   CZP;   CZP1;   Cataract, Duffy-Linked;   Cataract, Zonular Pulverulent 1;   Pulverulent Zonular Cataract
 primary_id: MESH:C566158
 alt_id: OMIM:116200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cataract 1 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO
IAGP
ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by term: Zonular Pulverulent Cataract
ClinVar Annotator: match by OMIM:116200
DNA:missense mutation:cds:p.L7Q(rat)
OMIM
ClinVar
PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 PMID:14059288 PMID:14627691 PMID:16397066 PMID:16604058 PMID:17724170 PMID:18006672 PMID:18334946 PMID:18334966 PMID:18587493 PMID:19073179 PMID:21174522 PMID:21228318 PMID:23508780 PMID:23555834 PMID:24281366 PMID:24535056 PMID:25003127 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:29464339, PMID:18470322 RGD:2293186 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:18470322 RGD:2293186

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      eye disease 2665
        lens disease 222
          cataract 215
            cataract 1 multiple types 4
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                cataract 1 multiple types 4
paths to the root