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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 1 multiple types
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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 Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:28492532 NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:28492532 NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:28492532 NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:28492532 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract
DNA:missense mutation:cds:p.L7Q(rat)
OMIM
ClinVar
RGD
PMID:9497259 PMID:10480374 PMID:11846744 PMID:14059288 PMID:14627691 More... RGD:2293186 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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 18156
    sensory system disease 6410
      eye disease 2936
        lens disease 313
          cataract 306
            cataract 1 multiple types 8
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5232
                cataract 1 multiple types 8
paths to the root