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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 7
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Accession:DOID:0110333 term browser 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

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Leber congenital amaurosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chrNW_004624832:6,103,530...6,108,129
Ensembl chrNW_004624832:6,104,229...6,108,146 		JBrowse link
G G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chr 6:41,125,912...41,133,478
Ensembl chr 6:41,126,125...41,132,951 		JBrowse link
G P CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190 		JBrowse link
G D CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010 		JBrowse link
G B CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chr19:44,828,119...44,856,284 JBrowse link
G C Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chrNW_004955574:1,544,917...1,548,912
Ensembl chrNW_004955574:1,544,917...1,548,912 		JBrowse link
G R Crx cone-rod homeobox ISO
ISS		 DNA:deletions:cds (human)
ClinVar Annotator: match by term: Leber congenital amaurosis 7
OMIM:613829
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... RGD:734827 NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G M Crx cone-rod homeobox ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 7
CTD Direct Evidence: marker/mechanism
OMIM:613829
DNA:deletions:cds (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... RGD:734827 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G H CRX cone-rod homeobox IAGP
ISS
EXP		 DNA:deletions:cds (human)
ClinVar Annotator: match by term: Leber congenital amaurosis 7
OMIM:613829
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... RGD:734827 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G S LOC101960714 cone-rod homeobox protein ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 OMIM
ClinVar		 PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		JBrowse link
G M Rhox2a reproductive homeobox 2A ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar NCBI chr  X:36,508,645...36,513,343
Ensembl chr  X:36,508,629...36,513,339 		JBrowse link
G G SULT2A1 sulfotransferase family 2A member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr 6:41,160,707...41,175,382
Ensembl chr 6:41,159,978...41,175,300 		JBrowse link
G P SULT2A1 sulfotransferase family 2A member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr 6:53,525,496...53,536,723
Ensembl chr 6:53,524,787...53,536,718 		JBrowse link
G B SULT2A1 sulfotransferase family 2A member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr19:44,864,747...44,880,688
Ensembl chr19:53,517,248...53,532,573 		JBrowse link
G R 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...75,508,113
Ensembl chr 1:74,911,100...75,508,134 		JBrowse link
G M Sult2a1 sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr 7:13,530,171...13,571,335
Ensembl chr 7:13,530,171...13,571,334 		JBrowse link
G H SULT2A1 sulfotransferase family 2A member 1 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr19:47,870,467...47,886,315
Ensembl chr19:47,870,467...47,886,315 		JBrowse link
G G TPRX1 tetrapeptide repeat homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr 6:41,099,988...41,102,217 JBrowse link
G D TPRX1 tetrapeptide repeat homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr 1:108,269,117...108,271,438 JBrowse link
G B TPRX1 tetrapeptide repeat homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr19:44,795,775...44,813,621 JBrowse link
G H TPRX1 tetrapeptide repeat homeobox 1 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532 PMID:30557390 NCBI chr19:47,801,232...47,819,051
Ensembl chr19:47,801,232...47,819,051 		JBrowse link
G B TPRX2 tetrapeptide repeat homeobox 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar
G H TPRX2 tetrapeptide repeat homeobox 2 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar NCBI chr19:47,859,235...47,861,721
Ensembl chr19:47,859,235...47,861,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175444
    physical disorder 50519
      Leber congenital amaurosis 1314
        Leber congenital amaurosis 7 23
Path 2
Term Annotations click to browse term
  disease 175444
    Pathological Conditions, Signs and Symptoms 128205
      Signs and Symptoms 104293
        Neurologic Manifestations 100065
          sensory system disease 68416
            eye disease 34947
              retinal disease 12543
                Leber congenital amaurosis 1314
                  Leber congenital amaurosis 7 23
paths to the root