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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 subfamily 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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253 		JBrowse link
G ACVRL1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32165824 More... NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469 		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 5:73,769,462...73,907,024
Ensembl chr 5:73,772,114...73,905,264 		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 chr 1:27,966,101...28,199,163
Ensembl chr 1:27,998,874...28,198,351 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 treatment ISO ClinVar Annotator: match by term: Leber congenital amaurosis RGD
ClinVar		 PMID:9536098 PMID:10615133 PMID:10873396 PMID:15024725 PMID:15249368 More... RGD:8696011 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:26633542 PMID:28492532 PMID:31630094 PMID:31755649 More... NCBI chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625 		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 chr 4:32,435,364...32,459,181
Ensembl chr 4:32,439,148...32,459,192 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis
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: 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 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr31:38,183,181...38,192,739
Ensembl chr31:38,183,188...38,196,113 		JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:26820066 NCBI chr 6:37,708,258...37,746,361
Ensembl chr 6:37,708,089...37,746,398 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:1347967 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12815043 More... NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:19884007 PMID:25741868 PMID:28492532 PMID:29419890 PMID:30564623 More... NCBI chr31:39,433,174...39,448,051 JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO 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
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		 ClinVar PMID:1389483 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 More... NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 ISO RGD PMID:24339791 RGD:8552784 NCBI chr 9:59,427,661...59,450,436
Ensembl chr 9:59,427,569...59,450,434 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:26872967 PMID:32165824 NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010 		JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:32165824 PMID:32573726 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:22117735 PMID:23913812 PMID:25741868 PMID:29296726 PMID:32165824 More... NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr 9:616,088...622,152
Ensembl chr 9:617,609...621,882 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25326637 NCBI chr25:44,317,540...44,453,761
Ensembl chr25:44,317,517...44,452,064 		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 chr 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:11874764 PMID:15781871 PMID:16622103 PMID:22008250 PMID:25741868 More... NCBI chr11:2,577,988...2,598,893
Ensembl chr11:2,577,988...2,597,575 		JBrowse link
G GUCA1B guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212 PMID:28492532 NCBI chr12:10,796,961...10,806,796
Ensembl chr12:10,797,921...10,834,237 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal 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 chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:16170316 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17601930 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758 		JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:30718709 NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		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 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:15723066 PMID:20881296 PMID:21220633 PMID:21866095 PMID:21901789 More... NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652 		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 chr25:44,377,848...44,388,537
Ensembl chr25:44,379,635...44,387,993 		JBrowse link
G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:8571951 PMID:9536098 PMID:12642313 PMID:17546029 PMID:17576681 More... NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:52,399,773...52,409,590
Ensembl chr15:52,399,544...52,406,176 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:28492532 NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 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:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:11464242 PMID:11601507 PMID:23418307 PMID:32906214 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 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:1550131 PMID:1674640 More... NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 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...4,955
Ensembl chr MT:3,914...4,957 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:10862102 PMID:12975413 PMID:19149795 PMID:20075948 PMID:20298698 More... NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G MYO7A myosin VIIA ISO DNA:missense mutation:cds:c.578C>T (p.T193I)(human) RGD PMID:21901789 RGD:11537385 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Congenital retinal blindness ClinVar PMID:10839884 PMID:15138899 PMID:25741868 PMID:28492532 NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212 PMID:25741868 PMID:26920127 PMID:28492532 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386 		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 chr30:35,375,181...35,382,398 JBrowse link
G OTX2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446 		JBrowse link
G PALS1 protein associated with LIN7 1, MAGUK p55 family member ISO MouseDO NCBI chr 8:41,230,230...41,330,017
Ensembl chr 8:41,275,947...41,327,348 		JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:12510040 PMID:16437574 PMID:28492532 NCBI chr24:17,461,406...17,475,248
Ensembl chr24:17,463,447...17,490,360 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr33:29,363,282...29,414,635
Ensembl chr33:29,358,452...29,430,424 		JBrowse link
G PDE6A phosphodiesterase 6A ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr 4:59,103,965...59,163,857
Ensembl chr 4:59,103,945...59,163,857 		JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:33673512 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372 		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 chr14:18,073,759...18,144,489
Ensembl chr14:18,073,758...18,143,152 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:25741868 PMID:32165824 PMID:34170046 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		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 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009 		JBrowse link
G PRPF31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:30718709 NCBI chr 1:103,073,359...103,090,652
Ensembl chr 1:103,073,380...103,090,652 		JBrowse link
G PRPH2 peripherin 2 ISO DNA:polymorphism:cds:p.L185P(human) RGD PMID:23847139 RGD:8553209 NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175 		JBrowse link
G RBP1 retinol binding protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212 PMID:28492532 NCBI chr23:35,677,844...35,698,194
Ensembl chr23:35,679,176...35,698,363 		JBrowse link
G RD3 RD3 regulator of GUCY2D ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr 7:9,876,003...9,887,267 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 chr 8:41,685,045...41,696,120
Ensembl chr 8:41,684,996...41,695,447 		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 chr 9:14,809,977...14,905,299
Ensembl chr 9:14,809,864...14,905,197 		JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:28492532 NCBI chr12:34,473,974...34,661,893
Ensembl chr12:34,474,033...34,659,410 		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 chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:28714225 NCBI chr  X:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO 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 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 More... NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator treatment ISO RGD PMID:20384479 RGD:8553217 NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:11283794 PMID:11528500 PMID:16199547 PMID:16272259 PMID:20065226 More... NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284 		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 5:68,289,864...68,308,381
Ensembl chr 5:68,289,485...68,308,340 		JBrowse link
G SPATA7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 PMID:21602930 More... NCBI chr 8:59,658,295...59,697,409
Ensembl chr 8:59,658,365...59,697,318 		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 chr12:4,632,580...4,644,313
Ensembl chr12:4,633,098...4,645,994 		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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		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 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 More... NCBI chr 8:41,714,654...41,777,996
Ensembl chr 8:41,715,485...41,777,422 		JBrowse link
G ZNF454 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 chr11:2,603,492...2,629,310
Ensembl chr11:2,606,800...2,629,232 		JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:45,157,418...45,197,323
Ensembl chr10:45,138,538...45,197,244 		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 chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 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 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470 		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 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 OMIM
ClinVar		 PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 More... NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687 		JBrowse link
G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9536098 PMID:17576681 PMID:18334959 PMID:25741868 PMID:28492532 More... NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:25324289 PMID:25472526 PMID:25741868 PMID:28492532 PMID:29186038 More... NCBI chr15:52,399,773...52,409,590
Ensembl chr15:52,399,544...52,406,176 		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 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009 		JBrowse link
G RPGRIP1 RPGR 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 chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735 		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 chr12:4,632,580...4,644,313
Ensembl chr12:4,633,098...4,645,994 		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 ClinVar Annotator: match by term: Leber congenital amaurosis 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		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 chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861 		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 OMIM
ClinVar		 PMID:16384941 PMID:17851563 PMID:19480389 PMID:20045992 PMID:20238057 More... NCBI chr14:8,001,575...8,013,181
Ensembl chr14:7,996,717...8,012,467 		JBrowse link
Leber congenital amaurosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RD3 RD3 regulator of GUCY2D treatment ISO ClinVar Annotator: match by term: Leber congenital amaurosis 12 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17186464 PMID:17576681 PMID:20301475 PMID:21928830 More... RGD:11560490 NCBI chr 7:9,876,003...9,887,267 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 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402 		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 8:41,332,581...41,354,058
Ensembl chr 8:41,333,021...41,354,320 		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 8:41,354,400...41,371,676
Ensembl chr 8:41,351,244...41,371,056 		JBrowse link
G FUT8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:39,670,629...39,972,729
Ensembl chr 8:39,825,246...39,972,612 		JBrowse link
G GARIN2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,223,071...41,237,619
Ensembl chr 8:41,219,653...41,245,895 		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 chr 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245 		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 8:41,230,230...41,330,017
Ensembl chr 8:41,275,947...41,327,348 		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 8:41,557,773...41,565,309
Ensembl chr 8:41,557,771...41,565,279 		JBrowse link
G PLEK2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,373,779...41,394,718
Ensembl chr 8:41,281,509...41,393,351 		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 8:41,508,866...41,560,054
Ensembl chr 8:41,508,740...41,559,932 		JBrowse link
G RAD51B RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,779,435...42,357,362
Ensembl chr 8:41,778,714...42,357,298 		JBrowse link
G RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,651,970...41,669,661
Ensembl chr 8:41,614,921...41,669,576 		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 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 8:41,685,045...41,696,120
Ensembl chr 8:41,684,996...41,695,447 		JBrowse link
G TMEM229B transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,452,231...41,490,059
Ensembl chr 8:41,452,371...41,452,877 		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 8:41,619,365...41,650,389
Ensembl chr29:19,153,616...19,154,245
Ensembl chr 8:19,153,616...19,154,245 		JBrowse link
G 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 More... NCBI chr 8:41,714,654...41,777,996
Ensembl chr 8:41,715,485...41,777,422 		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 subfamily 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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO 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 OMIM
ClinVar		 PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr15:52,399,773...52,409,590
Ensembl chr15:52,399,544...52,406,176 		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 OMIM
ClinVar		 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chr12:4,632,580...4,644,313
Ensembl chr12:4,633,098...4,645,994 		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 chr25:44,317,540...44,453,761
Ensembl chr25:44,317,517...44,452,064 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 16 OMIM
ClinVar		 PMID:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:25326637 More... NCBI chr25:44,377,848...44,388,537
Ensembl chr25:44,379,635...44,387,993 		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 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		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 like domain containing 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 19 ClinVar PMID:25741868 PMID:30573563 NCBI chr12:57,718,754...57,732,075
Ensembl chr12:57,718,821...57,731,014 		JBrowse link
G USP45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 19 OMIM
ClinVar		 PMID:25741868 PMID:30573563 NCBI chr12:57,637,890...57,706,562
Ensembl chr12:57,642,515...57,706,511 		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 cell polarity complex component 1 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 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470 		JBrowse link
G DEPDC1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:28492532 NCBI chr 6:76,848,586...76,867,888
Ensembl chr 6:76,847,715...76,865,413 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy ClinVar PMID:15024725 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 treatment ISO
IAGP		 ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II | ClinVar Annotator: match by term: Leber congenital amaurosis 2
human gene in mouse model		 OMIM
ClinVar
OMIA
RGD		 PMID:2804031 PMID:4492281 PMID:7851218 PMID:8745249 PMID:9088745 More... RGD:9495919 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131 		JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EML5 EMAP like 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 8:59,850,400...60,033,245
Ensembl chr 8:59,853,379...60,033,906 		JBrowse link
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967 		JBrowse link
G GPR65 G protein-coupled receptor 65 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 8:59,334,544...59,351,039
Ensembl chr 8:59,349,839...59,350,864 		JBrowse link
G KCNK10 potassium two pore domain channel subfamily K member 10 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 8:59,484,385...59,612,891
Ensembl chr 8:59,484,328...59,612,750 		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 chr 8:59,707,192...59,783,185
Ensembl chr 8:59,708,972...59,782,459 		JBrowse link
G SPATA7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr 8:59,658,295...59,697,409
Ensembl chr 8:59,658,365...59,697,318 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 8:60,061,670...60,115,464
Ensembl chr 8:60,061,732...60,115,075 		JBrowse link
G ZC3H14 zinc finger CCCH-type containing 14 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 8:59,796,607...59,849,928
Ensembl chr 8:59,796,598...59,849,926 		JBrowse link
Leber congenital amaurosis 4 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: AIPL1-Related Disorders | ClinVar Annotator: match by term: AIPL1-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 4 OMIM
ClinVar		 PMID:9536098 PMID:10615133 PMID:10873396 PMID:10927016 PMID:11139241 More... NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128 		JBrowse link
G KIAA0753 KIAA0753 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr 5:30,708,361...30,749,773
Ensembl chr 5:30,708,253...30,748,878 		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 chr 5:30,693,844...30,700,824
Ensembl chr 5:30,700,188...30,700,580 		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 chr 5:30,820,867...30,825,169
Ensembl chr 5:30,820,867...30,825,300 		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 chr 5:30,772,794...30,820,725
Ensembl chr 5:30,754,963...30,819,443 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653 		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 chr 5:30,701,673...30,703,742
Ensembl chr 5:30,701,700...30,703,739 		JBrowse link
Leber congenital amaurosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LCA5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 PMID:16123401 More... NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292 		JBrowse link
G SH3BGRL2 SH3 domain binding glutamate rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr12:40,579,997...40,656,376
Ensembl chr12:40,597,149...40,654,005 		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 chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 6 OMIM
ClinVar		 PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 More... NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735 		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 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 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
Leber congenital amaurosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 8 OMIM
ClinVar		 PMID:1389483 PMID:1427914 PMID:2906847 PMID:9536098 PMID:10508521 More... NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470 		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 ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 OMIM
ClinVar		 PMID:3691693 PMID:9536098 PMID:12734549 PMID:16199547 PMID:17576681 More... NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		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 OMIM
ClinVar		 PMID:25741868 PMID:29198720 NCBI chr 9:48,432,114...48,434,626
Ensembl chr 9:48,427,766...48,571,640 		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 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 OMIM
ClinVar		 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:7904791 More... NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar		 PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:28492532 NCBI chr18:54,025,603...54,027,803
Ensembl chr18:54,025,606...54,027,375 		JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386 		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 chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462 		JBrowse link
G TMEM218 transmembrane protein 218 ISO OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 5:9,363,910...9,377,471
Ensembl chr 5:9,371,556...9,377,112 		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-retinal syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More... NCBI chr 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512 		JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425 		JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4 OMIM
ClinVar		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386 		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 motif containing B1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 5 OMIM
ClinVar		 PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652 		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 ClinVar Annotator: match by term: Senior-Loken syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		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 chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861 		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 7:35,440,250...35,477,470
Ensembl chr 7:35,440,676...35,476,795 		JBrowse link
G AKT3 AKT serine/threonine kinase 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 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112 		JBrowse link
G CATSPERE catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:35,477,118...35,675,981
Ensembl chr 7:35,477,670...35,674,702 		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 7:34,264,994...34,395,355
Ensembl chr 7:34,266,147...34,364,497 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:35,819,647...35,823,983
Ensembl chr 7:35,821,040...35,823,862 		JBrowse link
G DESI2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:35,688,519...35,734,283
Ensembl chr 7:35,687,888...35,731,186 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:35,832,956...35,842,898
Ensembl chr 7:35,833,988...35,843,754 		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 7:33,422,964...33,836,252
Ensembl chr 7:33,429,409...33,836,258 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 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 7:34,395,977...34,631,479
Ensembl chr 7:34,396,345...34,631,462 		JBrowse link
G SPMIP3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 7:35,408,365...35,433,101
Ensembl chr 7:35,408,424...35,432,743 		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 7:35,123,417...35,130,349
Ensembl chr 7:35,117,209...35,129,134 		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 3:73,115,560...73,213,823
Ensembl chr 3:73,137,250...73,221,512 		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 chr25:48,782,448...48,836,993
Ensembl chr25:48,782,463...48,834,374 		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 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      Leber congenital amaurosis 130
        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 7
        Leber congenital amaurosis 5 2
        Leber congenital amaurosis 6 2
        Leber congenital amaurosis 7 2
        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 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              retinal disease 1183
                Leber congenital amaurosis 130
                  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 7
                  Leber congenital amaurosis 5 2
                  Leber congenital amaurosis 6 2
                  Leber congenital amaurosis 7 2
                  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