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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
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Accession:DOID:14791 term browser browse the term
Definition:A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)
Synonyms:exact_synonym: Heredoretinopathia Congenitalis;   LCA;   Leber Abiotrophy;   Leber abiotrophies;   Leber amaurosis;   Leber congenital amauroses;   Leber congenital tapetoretinal degeneration;   Leber's amauroses;   Leber's amaurosis;   Leber's congenital amaurosis;   Leber's disease;   Lebers amaurosis;   congenital amaurosis of retinal origin;   congenital retinal blindness;   dysgenesis neuroepithelialis retinae;   hereditary epithelial dysplasia of retina;   hereditary retinal aplasia
 primary_id: MESH:D057130
 xref: GARD:634;   NCI:C129075;   OMIM:PS204000;   ORDO:65
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Leber congenital amaurosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: Congenital retinal blindness ClinVar PMID:9781034 PMID:10090887 PMID:10711710 PMID:10958761 PMID:11527935 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:114,423,755...114,575,975
Ensembl chr 8:114,423,758...114,575,370 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:15322546 PMID:16453322 PMID:25445212 PMID:25741868 PMID:26092869 More... NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 treatment ISO
IMP		 DNA:nonsense mutation, deletion:exon:p.W278X (human)
ClinVar Annotator: match by term: Leber congenital amaurosis		 ClinVar
RGD		 PMID:9536098 PMID:10615133 PMID:10873396 PMID:15024725 PMID:15249368 More... RGD:70801, RGD:8696012, RGD:8696011 NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:25741868 PMID:28492532 PMID:32165824 NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:25741868 PMID:28492532 PMID:32165824 NCBI chr 4:139,348,404...139,377,002
Ensembl chr 4:139,350,177...139,377,001 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:26633542 PMID:28492532 PMID:31630094 PMID:31755649 More... NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:20805371 PMID:23044944 PMID:23591405 PMID:25741868 PMID:26103963 More... NCBI chr14:36,799,806...36,820,304
Ensembl chr14:36,799,814...36,820,304 		JBrowse link
G Cep290 centrosomal protein 290 IAGP
ISO		 ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:8662304 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:26820066 NCBI chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011 		JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:1347967 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12815043 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Col6a2 collagen, type VI, alpha 2 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:19884007 PMID:25741868 PMID:28492532 PMID:29419890 PMID:30564623 More... NCBI chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO
IMP		 DNA:mutations:exon:multiple
ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion, nonsense mutation, haplotype:exon:multiple		 ClinVar
CTD
RGD		 PMID:1389483 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 More... RGD:8552697, RGD:8552785, RGD:8552784 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crb2 crumbs family member 2 IMP RGD PMID:24339791 RGD:8552784 NCBI chr 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115 		JBrowse link
G Crx cone-rod homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis		 CTD
ClinVar		 PMID:9537410 PMID:9931337 PMID:25741868 PMID:26872967 PMID:32165824 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:32165824 PMID:32573726 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Fscn2 fascin actin-bundling protein 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr11:120,250,991...120,258,999
Ensembl chr11:120,252,360...120,258,994 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25326637 NCBI chr 1:87,254,653...87,378,532
Ensembl chr 1:87,254,720...87,378,518 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital
ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis		 ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 More... NCBI chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:11874764 PMID:15781871 PMID:16622103 PMID:22008250 PMID:25741868 More... NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212 PMID:28492532 NCBI chr17:47,692,526...47,703,892
Ensembl chr17:47,696,318...47,703,892 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital
ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital		 ClinVar PMID:8944027 PMID:9536098 PMID:9683616 PMID:10676808 PMID:10766140 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:16170316 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17601930 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis		 CTD
ClinVar		 PMID:16384941 PMID:30718709 NCBI chr 6:29,200,435...29,216,363
Ensembl chr 6:29,200,433...29,216,363 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:23034536 PMID:23386033 PMID:25741868 PMID:28492532 PMID:28559085 More... NCBI chr 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO DNA:deletions, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: Leber congenital amaurosis
DNA:nonsense mutation:splice-site mutation:cds, intron:p.Y493X (c.1479C>A), c.1130-1G>C (human)		 ClinVar
RGD		 PMID:15723066 PMID:20881296 PMID:21220633 PMID:21866095 PMID:21901789 More... RGD:11537384, RGD:11537385 NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:21427441 PMID:25741868 PMID:28887846 PMID:29615062 PMID:31116475 More... NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25326637 NCBI chr 1:87,312,299...87,322,451
Ensembl chr 1:87,314,085...87,322,451 		JBrowse link
G Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:25741868 PMID:27779742 PMID:28492532 PMID:32165824 PMID:32712949 More... NCBI chr 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093 		JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:8571951 PMID:9536098 PMID:12642313 PMID:17546029 PMID:17576681 More... NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis		 CTD
ClinVar		 PMID:19339306 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:28492532 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's disease ClinVar PMID:11464242 PMID:11601507 PMID:23418307 PMID:32906214 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:1550131 PMID:1674640 More... NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951 		JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086 		JBrowse link
G mt-Tc tRNA cysteine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,192...5,257
Ensembl chr MT:5,192...5,257 		JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913 		JBrowse link
G mt-Tn tRNA asparagine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159 		JBrowse link
G mt-Tq tRNA glutamine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842 		JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016 		JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:10862102 PMID:12975413 PMID:19149795 PMID:20075948 PMID:20298698 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Myo7a myosin VIIA ISO DNA:missense mutation:cds:c.578C>T (p.T193I)(human) RGD PMID:21901789 RGD:11537385 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis		 CTD
ClinVar		 PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Congenital retinal blindness ClinVar PMID:10839884 PMID:15138899 PMID:25741868 PMID:28492532 NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212 PMID:25741868 PMID:26920127 PMID:28492532 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:10655056 PMID:19898638 PMID:24069298 PMID:25703721 PMID:28300834 More... NCBI chr 9:59,850,054...59,868,117
Ensembl chr 9:59,850,054...59,867,942 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pals1 protein associated with LIN7 1, MAGUK family member IAGP MouseDO NCBI chr12:78,795,606...78,887,488
Ensembl chr12:78,795,681...78,887,488 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:12510040 PMID:16437574 PMID:28492532 NCBI chr 2:131,103,928...131,141,108
Ensembl chr 2:131,104,415...131,141,108 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha isoform ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr16:32,249,739...32,293,883
Ensembl chr16:32,249,739...32,293,888 		JBrowse link
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr18:61,353,546...61,426,698
Ensembl chr18:61,353,387...61,422,995 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:33673512 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Congenital retinal blindness ClinVar PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:11389485 More... NCBI chr 5:3,646,066...3,687,230
Ensembl chr 5:3,646,066...3,687,232 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 PMID:24516651 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:30718709 NCBI chr 7:3,632,984...3,645,484
Ensembl chr 7:3,632,984...3,645,485 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.L185P(human) RGD PMID:23847139 RGD:8553209 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Rbp1 retinol binding protein 1, cellular ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212 PMID:28492532 NCBI chr 9:98,305,014...98,328,604
Ensembl chr 9:98,305,014...98,328,628 		JBrowse link
G Rd3 retinal degeneration 3 ISO DNA:mutations::
ClinVar Annotator: match by term: Leber congenital amaurosis		 ClinVar
RGD		 PMID:22531706 RGD:11560485 NCBI chr 1:191,688,574...191,725,497
Ensembl chr 1:191,709,331...191,720,244 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital
ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease		 ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 More... NCBI chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:14702087 PMID:17826834 PMID:19818506 PMID:28492532 PMID:30718709 NCBI chr11:109,116,174...109,189,013
Ensembl chr11:109,116,181...109,188,955 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:28714225 NCBI chr  X:20,230,778...20,271,873
Ensembl chr  X:20,230,720...20,271,892 		JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital		 CTD
ClinVar		 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 More... NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator treatment IDA RGD PMID:20384479 RGD:8553217 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis		 CTD
ClinVar		 PMID:11283794 PMID:11528500 PMID:16199547 PMID:16272259 PMID:20065226 More... NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:28714225 PMID:33594928 NCBI chr 8:120,206,313...120,228,503
Ensembl chr 8:120,206,341...120,228,437 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis		 CTD
ClinVar		 PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 PMID:21602930 More... NCBI chr12:98,594,169...98,636,078
Ensembl chr12:98,594,416...98,636,074 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:8606774 PMID:9462750 PMID:9536098 PMID:9660588 PMID:10549638 More... NCBI chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:10729113 PMID:10909849 PMID:17085681 PMID:18273898 PMID:20507924 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:23559409 PMID:25726036 PMID:25741868 PMID:26260382 PMID:27596865 More... NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Zfp454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:11874764 PMID:15781871 PMID:16622103 PMID:22008250 PMID:25741868 More... NCBI chr11:50,763,545...50,778,463
Ensembl chr11:50,763,547...50,778,478 		JBrowse link
G Zfyve26 zinc finger, FYVE domain containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 More... NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078 		JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
Leber congenital amaurosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:10873396 PMID:14555765 PMID:15249368 PMID:15347646 PMID:16123401 More... NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:10508521 PMID:11231775 PMID:12700176 PMID:12843338 PMID:15024725 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:25741868 PMID:26355662 PMID:28492532 PMID:29641573 PMID:30718709 More... NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO
IAGP		 ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1
CTD Direct Evidence: marker/mechanism
OMIM:204000		 OMIM
ClinVar
CTD
MouseDO		 PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9536098 PMID:17576681 PMID:18334959 PMID:25741868 PMID:28492532 More... NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:25324289 PMID:25472526 PMID:25741868 PMID:28492532 PMID:29186038 More... NCBI chr 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:17605048 PMID:19718270 PMID:24154662 PMID:24938718 PMID:25474345 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:16123401 More... NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9462750 PMID:17620573 PMID:17962469 PMID:21792230 PMID:23661368 More... NCBI chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		JBrowse link
Leber congenital amaurosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 10
CTD Direct Evidence: marker/mechanism
OMIM:611755
DNA:frameshift mutations, nonsense mutations:cds, intron:multiple
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11537381, RGD:11537378, RGD:11064164 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 10 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
Leber congenital amaurosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16384941 PMID:17851563 PMID:19480389 PMID:20045992 PMID:20238057 More... NCBI chr 6:29,200,435...29,216,363
Ensembl chr 6:29,200,433...29,216,363 		JBrowse link
Leber congenital amaurosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rd3 retinal degeneration 3 treatment ISO
IAGP
IMP		 ClinVar Annotator: match by term: Leber congenital amaurosis 12
CTD Direct Evidence: marker/mechanism
OMIM:610612		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:17186464 PMID:17576681 PMID:20301475 PMID:21928830 More... RGD:11560490 NCBI chr 1:191,688,574...191,725,497
Ensembl chr 1:191,709,331...191,720,244 		JBrowse link
Leber congenital amaurosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg2 arginase type II ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075 		JBrowse link
G Atp6v1d ATPase, H+ transporting, lysosomal V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,889,756...78,908,810
Ensembl chr12:78,887,499...78,908,412 		JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2, subunit 1 alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,908,846...78,933,784
Ensembl chr12:78,908,593...78,933,784 		JBrowse link
G Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:77,284,878...77,522,770
Ensembl chr12:77,284,899...77,523,112 		JBrowse link
G Garin2 golgi associated RAB2 interactor 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,738,257...78,781,290
Ensembl chr12:78,738,309...78,781,290 		JBrowse link
G 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 More... NCBI chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G Pals1 protein associated with LIN7 1, MAGUK family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,795,606...78,887,488
Ensembl chr12:78,795,681...78,887,488 		JBrowse link
G Pigh phosphatidylinositol glycan anchor biosynthesis, class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,127,443...79,136,478
Ensembl chr12:79,127,438...79,136,425 		JBrowse link
G Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,935,465...78,955,166
Ensembl chr12:78,935,465...78,953,738 		JBrowse link
G Plekhh1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,075,937...79,128,429
Ensembl chr12:79,075,937...79,128,429 		JBrowse link
G Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,344,032...79,895,034
Ensembl chr12:79,344,056...79,861,464 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,221,007...79,238,629
Ensembl chr12:79,221,111...79,239,067 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		JBrowse link
G Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,008,569...79,054,333
Ensembl chr12:79,008,569...79,054,401 		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 chr12:79,202,791...79,219,428
Ensembl chr12:79,202,791...79,219,441 		JBrowse link
G Zfyve26 zinc finger, FYVE domain 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 More... NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078 		JBrowse link
Leber congenital amaurosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 14 ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:24938718 PMID:25312043 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO
IAGP		 ClinVar Annotator: match by term: LRAT-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
CTD Direct Evidence: marker/mechanism
OMIM:613341		 OMIM
ClinVar
CTD
MouseDO		 PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280 		JBrowse link
Leber congenital amaurosis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 15
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		JBrowse link
Leber congenital amaurosis 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 16 ClinVar PMID:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:25326637 More... NCBI chr 1:87,254,653...87,378,532
Ensembl chr 1:87,254,720...87,378,518 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 16
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:25326637 More... NCBI chr 1:87,312,299...87,322,451
Ensembl chr 1:87,314,085...87,322,451 		JBrowse link
Leber congenital amaurosis 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 17
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345 		JBrowse link
Leber congenital amaurosis 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tstd3 thiosulfate sulfurtransferase (rhodanese)-like domain containing 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 19 ClinVar PMID:25741868 PMID:30573563 NCBI chr 4:21,757,382...21,767,211
Ensembl chr 4:21,757,382...21,767,212 		JBrowse link
G Usp45 ubiquitin specific petidase 45 ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 19 OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:30573563 NCBI chr 4:21,767,161...21,837,872
Ensembl chr 4:21,767,156...21,837,872 		JBrowse link
Leber congenital amaurosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy | ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar PMID:10508521 PMID:15024725 PMID:16543197 PMID:17724218 PMID:17964524 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Depdc1a DEP domain containing 1a ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:28492532 NCBI chr 3:159,201,042...159,235,690
Ensembl chr 3:159,201,070...159,235,592 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy ClinVar PMID:15024725 NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Rpe65 retinal pigment epithelium 65 treatment IMP
ISO
IAGP		 ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II | ClinVar Annotator: match by term: Leber congenital amaurosis 2
CTD Direct Evidence: marker/mechanism
OMIM:204100
DNA:missense mutation:cds:p.R91W (mouse)
human gene in mouse model
DNA:nonsense mutation:cds:p.R44X (mouse)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 More... RGD:737730, RGD:9495932, RGD:9495919, RGD:9495917 NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml5 echinoderm microtubule associated protein like 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,752,863...98,867,770
Ensembl chr12:98,753,064...98,867,743 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,168,543...98,226,565
Ensembl chr12:98,168,553...98,225,718 		JBrowse link
G Gpr65 G-protein coupled receptor 65 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,234,894...98,242,981
Ensembl chr12:98,234,894...98,242,903 		JBrowse link
G Kcnk10 potassium channel, subfamily K, member 10 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,395,691...98,544,472
Ensembl chr12:98,395,696...98,544,569 		JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,643,000...98,703,664
Ensembl chr12:98,643,000...98,703,664 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset
CTD Direct Evidence: marker/mechanism
OMIM:604232		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr12:98,594,169...98,636,078
Ensembl chr12:98,594,416...98,636,074 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,708,276...98,754,033
Ensembl chr12:98,713,223...98,754,012 		JBrowse link
Leber congenital amaurosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930563E22Rik RIKEN cDNA 4930563E22 gene ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr11:72,105,964...72,109,276
Ensembl chr11:72,105,964...72,109,270 		JBrowse link
G 4933427D14Rik RIKEN cDNA 4933427D14 gene ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr11:72,044,755...72,098,308
Ensembl chr11:72,044,755...72,098,285
Ensembl chr11:72,044,755...72,098,285 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO
IAGP		 ClinVar Annotator: match by term: AIPL1-Related Disorders | ClinVar Annotator: match by term: AIPL1-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 4
CTD Direct Evidence: marker/mechanism
OMIM:604393		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10615133 PMID:10873396 PMID:10927016 PMID:11139241 More... NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Med31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr11:72,102,550...72,106,418
Ensembl chr11:72,102,550...72,106,418 		JBrowse link
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr11:71,932,867...71,938,197
Ensembl chr11:71,932,858...71,938,196 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604 		JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048 		JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr11:72,098,380...72,101,313
Ensembl chr11:72,098,373...72,100,841 		JBrowse link
Leber congenital amaurosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lca5 Leber congenital amaurosis 5 (human) ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 5
CTD Direct Evidence: marker/mechanism
OMIM:604537		 OMIM
ClinVar
CTD
MouseDO		 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 PMID:16123401 More... NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G Sh3bgrl2 SH3 domain binding glutamic acid-rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 9:83,430,391...83,482,345
Ensembl chr 9:83,430,380...83,520,854 		JBrowse link
Leber congenital amaurosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 6 ClinVar PMID:9536098 PMID:17397051 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 6
CTD Direct Evidence: marker/mechanism
OMIM:613826		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 More... NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
Leber congenital amaurosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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 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
Leber congenital amaurosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 8
CTD Direct Evidence: marker/mechanism
OMIM:613835		 OMIM
ClinVar
CTD
MouseDO		 PMID:1389483 PMID:1427914 PMID:2906847 PMID:9536098 PMID:10508521 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
Leber congenital amaurosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO
IAGP		 ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9
CTD Direct Evidence: marker/mechanism
OMIM:608553		 OMIM
ClinVar
CTD
MouseDO		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
Leber congenital amaurosis with early-onset deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4b tubulin, beta 4B class IVB ISO ClinVar Annotator: match by term: Leber congenital amaurosis with early-onset deafness ClinVar
OMIM		 PMID:25741868 PMID:29198720 NCBI chr 2:25,112,170...25,114,714
Ensembl chr 2:25,112,172...25,114,714 		JBrowse link
retinitis pigmentosa 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
IAGP		 ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
CTD Direct Evidence: marker/mechanism
OMIM:608133		 OMIM
ClinVar
CTD
MouseDO		 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:7904791 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic		 OMIM
CTD
ClinVar		 PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:28492532 NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720 		JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia		 CTD
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003 		JBrowse link
G Tmem218 transmembrane protein 218 IAGP OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 9:37,119,519...37,134,524
Ensembl chr 9:37,119,519...37,135,996 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Renal dysplasia retinal aplasia ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human)
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome		 ClinVar
RGD		 PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More... RGD:11552600 NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 2:127,582,652...127,630,833
Ensembl chr 2:127,582,652...127,630,817 		JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 5
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:exon:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... RGD:11537383 NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Senior-Loken syndrome 6		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:20683928 PMID:25741868 PMID:28492532 NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:177,590,742...177,624,064
Ensembl chr 1:177,590,528...177,624,077 		JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Catspere2 cation channel sperm associated auxiliary subunit epsilon 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:177,810,724...178,000,273
Ensembl chr 1:177,810,989...178,000,271 		JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:22190896 PMID:28492532 NCBI chr 1:176,556,638...176,641,545
Ensembl chr 1:176,561,219...176,641,633 		JBrowse link
G Cox20 cytochrome c oxidase assembly protein 20 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:178,146,379...178,150,258
Ensembl chr 1:178,146,695...178,150,258 		JBrowse link
G Desi2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:178,014,983...178,080,164
Ensembl chr 1:178,014,983...178,084,867 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:178,148,673...178,170,063
Ensembl chr 1:178,148,673...178,165,362 		JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:28492532 NCBI chr 1:175,789,867...176,109,078
Ensembl chr 1:175,789,872...176,102,878 		JBrowse link
G Sdccag8 serologically defined colon cancer antigen 8 ISO ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr 1:176,642,226...176,848,004
Ensembl chr 1:176,642,226...176,848,003 		JBrowse link
G Spmip3 sperm associated microtubule inner protein 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:177,555,704...177,580,875
Ensembl chr 1:177,557,380...177,580,890 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:177,269,892...177,278,330
Ensembl chr 1:177,269,917...177,278,330 		JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More... NCBI chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 9 OMIM
ClinVar		 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 NCBI chr 1:91,422,311...91,457,029
Ensembl chr 1:91,422,369...91,457,029 		JBrowse link
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: SHILCA SYNDROME OMIM
ClinVar		 PMID:22842227 PMID:22842230 PMID:22842231 PMID:25741868 PMID:26018082 More... NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    physical disorder 5015
      Leber congenital amaurosis 148
        Amaurosis Hypertrichosis 1
        Leber congenital amaurosis 1 9
        Leber congenital amaurosis 10 2
        Leber congenital amaurosis 11 1
        Leber congenital amaurosis 12 1
        Leber congenital amaurosis 13 16
        Leber congenital amaurosis 14 2
        Leber congenital amaurosis 15 1
        Leber congenital amaurosis 16 2
        Leber congenital amaurosis 17 1
        Leber congenital amaurosis 19 2
        Leber congenital amaurosis 2 4
        Leber congenital amaurosis 3 8
        Leber congenital amaurosis 4 8
        Leber congenital amaurosis 5 2
        Leber congenital amaurosis 6 2
        Leber congenital amaurosis 7 3
        Leber congenital amaurosis 8 1
        Leber congenital amaurosis 9 1
        Leber congenital amaurosis with early-onset deafness 1
        Senior-Loken syndrome + 20
        retinitis pigmentosa 7 2
        spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
Path 2
Term Annotations click to browse term
  disease 16121
    Pathological Conditions, Signs and Symptoms 12404
      Signs and Symptoms 10193
        Neurologic Manifestations 9852
          sensory system disease 6828
            eye disease 3477
              retinal disease 1239
                Leber congenital amaurosis 148
                  Amaurosis Hypertrichosis 1
                  Leber congenital amaurosis 1 9
                  Leber congenital amaurosis 10 2
                  Leber congenital amaurosis 11 1
                  Leber congenital amaurosis 12 1
                  Leber congenital amaurosis 13 16
                  Leber congenital amaurosis 14 2
                  Leber congenital amaurosis 15 1
                  Leber congenital amaurosis 16 2
                  Leber congenital amaurosis 17 1
                  Leber congenital amaurosis 19 2
                  Leber congenital amaurosis 2 4
                  Leber congenital amaurosis 3 8
                  Leber congenital amaurosis 4 8
                  Leber congenital amaurosis 5 2
                  Leber congenital amaurosis 6 2
                  Leber congenital amaurosis 7 3
                  Leber congenital amaurosis 8 1
                  Leber congenital amaurosis 9 1
                  Leber congenital amaurosis with early-onset deafness 1
                  Senior-Loken syndrome + 20
                  retinitis pigmentosa 7 2
                  spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
paths to the root