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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:Leber congenital amaurosis 13
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Accession:DOID:0110330 term browser browse the term
Definition:A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)
Synonyms:exact_synonym: LCA13
 narrow_synonym: RETINITIS PIGMENTOSA 53;   RP53
 primary_id: MESH:C567197
 alt_id: OMIM:612712
For additional species annotation, visit the Alliance of Genome Resources.



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Leber congenital amaurosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
JBrowse link
G Atp6v1d ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,656,725...97,672,211
Ensembl chr 6:97,656,576...97,672,303
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
JBrowse link
G Fam71d family with sequence similarity 71, member D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,489,562...97,534,729
Ensembl chr 6:97,490,368...97,534,763
JBrowse link
G Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:95,948,230...96,176,677
Ensembl chr 6:95,949,991...96,176,677
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Pals1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,548,133...97,654,163
Ensembl chr 6:97,548,630...97,653,305
JBrowse link
G Pigh phosphatidylinositol glycan anchor biosynthesis, class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,874,903...97,897,188
Ensembl chr 6:97,882,903...97,897,142
JBrowse link
G Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,700,123...97,719,417
Ensembl chr 6:97,701,106...97,719,326
JBrowse link
G Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,839,288...97,888,712
Ensembl chr 6:97,839,288...97,888,709
JBrowse link
G Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:98,096,525...98,640,988
Ensembl chr 6:98,098,868...98,640,979
JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by OMIM:612712
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 53
OMIM
ClinVar
CTD
PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,771,645...97,819,582
Ensembl chr 6:97,775,332...97,819,489
JBrowse link
G Vti1b vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,957,700...97,976,491
Ensembl chr 6:97,961,346...97,976,465
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      Leber congenital amaurosis 97
        Leber congenital amaurosis 13 16
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                Leber congenital amaurosis 13 16
paths to the root