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
Accession: DOID:0110330
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
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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
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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...97,672,295
Ensembl chr 6:97,656,576...97,672,303
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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
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Fut8
fucosyltransferase 8
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar
PMID:28492532
NCBI chr 6:95,949,246...96,176,677
Ensembl chr 6:95,949,991...96,176,677
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Garin2
golgi associated RAB2 interactor family member 2
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
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Gphn
gephyrin
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53
ClinVar
PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17197551 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:19956407 PMID:20006610 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:21232531 PMID:21602930 PMID:22065924 PMID:23105016 PMID:23591405 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25133751 PMID:25412400 PMID:25494902 PMID:25561519 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26124963 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26497376 PMID:26667666 PMID:26848971 PMID:26868535 PMID:26992781 PMID:27032803 PMID:27208204 PMID:27422788 PMID:27809489 PMID:28041643 PMID:28157192 PMID:28418496 PMID:28471114 PMID:28492532 PMID:28512305 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30134391 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31054281 PMID:31456290 PMID:31630094 PMID:31801355 PMID:31814694 PMID:31816670 PMID:32014858 PMID:32037395 PMID:32141364 PMID:32322264 PMID:32790509 PMID:32865313 PMID:33970760 PMID:34001834 PMID:34448047 PMID:34567070 PMID:35006499 PMID:35119454 PMID:35994252 PMID:36284670 PMID:36690427 PMID:36909829 More...
NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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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
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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
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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
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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
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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
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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
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Rdh12
retinol dehydrogenase 12
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53
OMIM CTD ClinVar
PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17197551 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:18779497 PMID:19011012 PMID:19140180 PMID:19956407 PMID:20006610 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:21232531 PMID:21602930 PMID:22065924 PMID:23105016 PMID:23591405 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25133751 PMID:25412400 PMID:25494902 PMID:25526675 PMID:25561519 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26124963 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26497376 PMID:26667666 PMID:26848971 PMID:26868535 PMID:26992781 PMID:27032803 PMID:27208204 PMID:27422788 PMID:27809489 PMID:28041643 PMID:28157192 PMID:28418496 PMID:28471114 PMID:28492532 PMID:28512305 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30134391 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31054281 PMID:31456290 PMID:31630094 PMID:31801355 PMID:31814694 PMID:31816670 PMID:32014858 PMID:32037395 PMID:32141364 PMID:32322264 PMID:32790509 PMID:32865313 PMID:33970760 PMID:34001834 PMID:34448047 PMID:34567070 PMID:35006499 PMID:35119454 PMID:35994252 PMID:36284670 PMID:36690427 PMID:36909829 More...
NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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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
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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
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Zfyve26
zinc finger FYVE-type containing 26
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53
ClinVar
PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:18779497 PMID:19011012 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23591405 PMID:23847139 PMID:24265693 PMID:24474277 PMID:24625443 PMID:25412400 PMID:25494902 PMID:25561519 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26667666 PMID:26848971 PMID:26992781 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28512305 PMID:28559085 PMID:29178642 PMID:30134391 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31456290 PMID:31630094 PMID:31801355 PMID:31816670 PMID:32014858 PMID:32141364 PMID:32322264 PMID:32790509 PMID:34001834 PMID:35006499 PMID:35119454 PMID:35994252 PMID:36284670 PMID:36690427 PMID:36909829 More...
NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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