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 7
Accession: DOID:0110333
browse the term
Definition: A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)
Synonyms: exact_synonym: LCA7
primary_id: OMIM:613829
For additional species annotation, visit the
Alliance of Genome Resources .
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Bsph1
binder of sperm protein homolog 1
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar
PMID:28492532
NCBI chr 1:74,413,976...74,450,117
Ensembl chr 1:74,411,200...74,450,120
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Cabp5
calcium binding protein 5
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar
PMID:28492532
NCBI chr 1:74,350,811...74,363,830
Ensembl chr 1:74,350,811...74,363,830
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Crx
cone-rod homeobox
ISO
DNA:deletions:cds (human) ClinVar Annotator: match by term: Leber congenital amaurosis 7
OMIM ClinVar RGD
PMID:9390563 PMID:9427255 PMID:9537410 PMID:9792858 PMID:9931337 PMID:10766140 PMID:10916183 PMID:11139241 PMID:11748859 PMID:11971869 PMID:12208271 PMID:12843339 PMID:15531334 PMID:15994872 PMID:16123401 PMID:17964524 PMID:18682808 PMID:20301475 PMID:22960069 PMID:22968130 PMID:23049240 PMID:23806086 PMID:24088041 PMID:24265693 PMID:24516401 PMID:25259927 PMID:25270190 PMID:25326637 PMID:25356976 PMID:25741868 PMID:26161267 PMID:26355662 PMID:26682157 PMID:26992781 PMID:27032803 PMID:27624628 PMID:28041643 PMID:28492532 PMID:29068479 PMID:29555955 PMID:29568065 PMID:29641573 PMID:29785639 PMID:29847639 PMID:30029497 PMID:30460480 PMID:30543658 PMID:30557390 PMID:30718709 PMID:31215831 PMID:31626798 PMID:31630094 PMID:32533067 PMID:32581362 PMID:32689858 PMID:32865313 PMID:32927963 PMID:33090715 PMID:33546218 PMID:35934205 PMID:9537410 More...
RGD:734827
NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
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Lig1
DNA ligase 1
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar
PMID:28492532
NCBI chr 1:74,165,688...74,204,400
Ensembl chr 1:74,165,842...74,204,413
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Nlrp1b
NLR family, pyrin domain containing 1B
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar
PMID:28492532
NCBI chr10:55,838,381...55,904,374
Ensembl chr10:55,843,001...55,912,774
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Pla2g4c
phospholipase A2 group IVC
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar
PMID:28492532
NCBI chr 1:74,249,688...74,272,133
Ensembl chr 1:74,236,211...74,274,656
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Sult2a1
sulfotransferase family 2A member 1
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar
PMID:28492532 PMID:30557390
NCBI chr 1:75,451,178...75,508,142
Ensembl chr 1:74,911,100...75,508,134
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Zswim9
zinc finger SWIM-type containing 9
ISO
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar
PMID:28492532
NCBI chr 1:74,144,818...74,165,804
Ensembl chr 1:74,144,814...74,166,009
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