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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 9 multiple types
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Accession:DOID:0110266 term browser browse the term
Definition:A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)
Synonyms:exact_synonym: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1;   CATC1;   CTRCT9;   Cataract 9, multiple types, with or without microcornea
 narrow_synonym: CATARACT 9, AUTOSOMAL RECESSIVE;   Cataract, Autosomal Dominant;   Cataract, autosomal dominant, multiple types, with microcornea
 primary_id: MESH:C565815
 alt_id: MIM:604219



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cataract 9 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,128,056...9,184,312 JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,222,569...11,350,854 JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,330,960...10,415,358 JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,635,775...10,650,709 JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,165,853...12,187,271 JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr11:37,225,321...37,289,741 JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,708,089...9,732,623 JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,687,863...10,694,736 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,474,104...11,582,593 JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,905,690...11,924,111 JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,021,676...12,049,425 JBrowse link
G Cryaa crystallin, alpha A ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:604219
ClinVar Annotator: match by term: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar Annotator: match by term: Cataract 9, autosomal recessive | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1
OMIM
CTD
MouseDO
ClinVar
PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 More... NCBI chr20:9,783,605...9,787,351 JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,245,462...10,247,505 JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,614,591...10,628,989 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,055,203...12,068,717 JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,514,459...10,522,556 JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,035,562...10,123,059 JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,600,420...10,610,718 JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,061,009...11,097,242 JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,880,524...10,881,445 JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,871,991...10,872,927 JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,939,609...10,940,526 JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,758,919...10,763,736 JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,090,641...12,118,230 JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,127,570...12,165,165 JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,613,786...9,622,941 JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,678,218...11,878,210 JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,190,597...12,278,723 JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,469,809...9,562,949 JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,663,907...10,685,967 JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) RGD PMID:9620774 RGD:737764 NCBI chr 1:245,001,106...245,013,881 JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,662,866...9,705,030 JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,367,073...11,377,788 JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr11:37,164,608...37,225,172 JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,030,013...11,047,742 JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,499,332...10,512,965 JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr11:50,591,926...50,614,169 JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,260,892...10,272,141 JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,122,825...10,148,404 JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,341,910...9,360,640 JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,947,104...9,958,729 JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,584,410...11,602,429 JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,360,501...9,433,895 JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,114,632...11,147,532 JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,074,040...12,083,873 JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,009,730...11,020,502 JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,235,736...9,239,597 JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,217,110...9,220,979 JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,193,259...9,197,969 JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,254,102...9,273,808 JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,438,404...10,498,740 JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,703,568...10,753,189 JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,771,806...10,837,419 JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,742,904...9,753,840 JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,291,471...9,334,685 JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,983,734...11,005,468 JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,027,751...9,087,133 JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,587,205...9,611,434 JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,165,192...12,174,713 JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr11:37,312,337...37,327,040 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      eye disease 3722
        lens disease 556
          cataract 545
            cataract 9 multiple types 65
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            eye disease 3722
              lens disease 556
                cataract 545
                  cataract 9 multiple types 65
paths to the root