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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 14 multiple types
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Accession:DOID:0110253 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. (DO)
Synonyms:exact_synonym: CAE3;   CTRCT14
 narrow_synonym: CZP3;   zonular pulverulent cataract 3
 primary_id: MESH:C566608
 alt_id: OMIM:601885
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cataract 14 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryl1 crystallin, lambda 1 JBrowse link 15 37,543,727 37,663,586 RGD:8554872
G Eef1akmt1 EEF1A lysine methyltransferase 1 JBrowse link 15 37,813,115 37,830,932 RGD:8554872
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:7240710
RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Il17d interleukin 17D JBrowse link 15 37,790,211 37,807,653 RGD:8554872
G Xpo4 exportin 4 JBrowse link 15 37,835,580 37,926,715 RGD:8554872

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  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          cataract 14 multiple types 8
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          eye disease 2385
            lens disease 196
              cataract 189
                cataract 14 multiple types 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.