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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 that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. (DO)
Synonyms:exact_synonym: age-related cataract
 primary_id: RDO:9000046
 xref: EFO:0006311;   ICD10CM:H25;   ICD9CM:366.1;   NCI:C35012

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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 chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211 		JBrowse link
G Cat catalase treatment ISO protein:decreased activity:serum: RGD PMID:16129095 PMID:23781296 RGD:10003112 RGD:9068934 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461 		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:21599457 PMID:24868140 RGD:10401083 RGD:10401084 NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chrNW_004936518:235,996...380,225
Ensembl chrNW_004936518:235,990...380,272 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050 		JBrowse link
G LOC101955831 heat shock 70 kDa protein 1 susceptibility ISO DNA:SNP: :1267A>G (human) RGD PMID:23666708 RGD:8662462 NCBI chrNW_004936727:1,718,952...1,721,691 JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831 		JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chrNW_004936521:10,296,097...10,316,673
Ensembl chrNW_004936521:10,296,097...10,322,215 		JBrowse link
G Wrn WRN RecQ like helicase no_association
susceptibility		 ISO DNA:missense mutation:cds:p.C1367R (rs1346044) (human) RGD PMID:20808731 PMID:23334603 RGD:10042984 RGD:10042985 NCBI chrNW_004936792:862,659...1,005,065
Ensembl chrNW_004936792:862,383...1,005,755 		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 chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777 		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 chrNW_004936474:3,648,395...3,673,856
Ensembl chrNW_004936474:3,648,550...3,673,861 		JBrowse link
nuclear senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO DNA:SNP: :rs9939609 (human) RGD PMID:19329528 RGD:329845885 NCBI chrNW_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Diseases of the Aged 1181
      senile cataract 15
        Morgagni cataract 0
        cortical senile cataract + 1
        immature cataract 0
        mature cataract 0
        nuclear senile cataract 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              lens disease 395
                cataract 385
                  senile cataract 15
                    Morgagni cataract 0
                    cortical senile cataract + 1
                    immature cataract 0
                    mature cataract 0
                    nuclear senile cataract 1
paths to the root