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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:senile cataract
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Accession:DOID:9669 term browser browse the term
Definition:A cataract of a type that occurs in the aged and is characterized by an initial opacity in the lens, subsequent swelling of the lens, and final shrinkage with complete loss of transparency.
Synonyms:exact_synonym: age-related cataract
 primary_id: RDO:9000046
 xref: ICD10CM:H25;   ICD9CM:366.1;   NCI:C35012
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase susceptibility ISO DNA:SNP:3' UTR: (rs4585) (human) RGD PMID:29156695 RGD:126790564 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Cat catalase treatment ISO protein:decreased activity:serum: RGD PMID:23781296 PMID:16129095 RGD:9068934, RGD:10003112 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility
no_association
ISO DNA:missense mutation:cds:p.D312N (human)
DNA:missense mutation:cds:p.K751Q (human)
RGD PMID:24868140 PMID:21599457 RGD:10401084, RGD:10401083 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B susceptibility ISO DNA:SNP: :1267A>G (human) RGD PMID:23666708 RGD:8662462 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
JBrowse link
G Mt2A metallothionein 2A ISO RGD PMID:9804143 RGD:10412648 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:16251120 RGD:8552653 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Wrn WRN RecQ like helicase susceptibility
no_association
ISO DNA:missense mutation:cds:p.C1367R (rs1346044) (human) RGD PMID:23334603 PMID:20808731 RGD:10042984, RGD:10042985 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.G399A (human) RGD PMID:21599457 RGD:10401083 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
cortical senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cortical senile cataract ClinVar PMID:19649315 PMID:20625407 PMID:22645087 PMID:22829731 PMID:23447127 More... NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Diseases of the Aged 1318
      senile cataract 18
        Morgagni cataract 0
        cortical senile cataract + 1
        immature cataract 0
        mature cataract 0
        nuclear senile cataract 0
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            lens disease 310
              cataract 305
                senile cataract 18
                  Morgagni cataract 0
                  cortical senile cataract + 1
                  immature cataract 0
                  mature cataract 0
                  nuclear senile cataract 0
paths to the root