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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 16
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Accession:DOID:0110118 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: LCA16
 primary_id: OMIM:614186
 alt_id: RDO:9000511
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Leber congenital amaurosis 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gigyf2 GRB10 interacting GYF protein 2 JBrowse link 9 94,425,191 94,550,431 RGD:8554872
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 JBrowse link 9 94,486,719 94,495,333 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          retinal disease 715
            Leber congenital amaurosis 63
              Leber congenital amaurosis 16 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                Leber congenital amaurosis 63
                  Leber congenital amaurosis 16 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.