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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 rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Synonyms:exact_synonym: Hereditary Epithelial Dysplasia of Retina;   Hereditary Retinal Aplasia;   Heredoretinopathia Congenitalis;   LCA;   Leber Abiotrophies;   Leber Abiotrophy;   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
 primary_id: MESH:D057130
 xref: GARD:634;   NCI:C129075;   OMIM:PS204000;   ORDO:65
For additional species annotation, visit the Alliance of Genome Resources.


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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: Leber congenital amaurosis
ClinVar Annotator: match by term: Congenital retinal blindness
ClinVar PMID:9781034, PMID:10090887, PMID:10711710, PMID:11527935, PMID:11687513, PMID:19074458, PMID:23755871, PMID:24342785, PMID:24713488, PMID:25082885, PMID:25525159, PMID:25544989, PMID:26103963, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:28559085, PMID:29925512, PMID:30311386, PMID:30718709 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:11484689, PMID:20056902, PMID:25741868, PMID:26387786, PMID:32165824, PMID:32573726 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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 chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212, PMID:25741868, PMID:26092869, PMID:28431631, PMID:28442542, PMID:32165824 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 treatment ISO DNA:nonsense mutation, deletion:exon:p.W278X (human)
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar Annotator: match by term: Leber's amaurosis
ClinVar PMID:10615133, PMID:10873396, PMID:15024725, PMID:15249368, PMID:15347646, PMID:21474771, PMID:22412862, PMID:25596619, PMID:25741868, PMID:25799540, PMID:26306921, PMID:28041643, PMID:28492532, PMID:30718709, PMID:10615133, PMID:24736053, PMID:19710705 RGD:70801, RGD:8696012, RGD:8696011 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:20805371, PMID:30718709 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
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 PMID:16682970, PMID:16909394, PMID:17345604, PMID:17564974, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:25377065, PMID:25741868, PMID:26047050, PMID:26092869, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29178642, PMID:29398085, PMID:30718709, PMID:24671090 RGD:8662304 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:26820066 NCBI chr10:11,847,058...11,878,792
Ensembl chr10:11,847,102...11,878,792
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15459792, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:19592100, PMID:20079539, PMID:20574029, PMID:23805033, PMID:24033266, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:mutations:exon:multiple
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar Annotator: match by term: Retinal blindness, congenital
ClinVar Annotator: match by term: Leber's amaurosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion, nonsense mutation, haplotype:exon:multiple
ClinVar
CTD
PMID:11231775, PMID:11389483, PMID:12567265, PMID:15024725, PMID:16543197, PMID:17128490, PMID:17297678, PMID:17724218, PMID:17964524, PMID:18682808, PMID:19140180, PMID:20079931, PMID:20956273, PMID:22065545, PMID:23379534, PMID:23449718, PMID:23462753, PMID:24033266, PMID:25133751, PMID:25323024, PMID:25474345, PMID:25741868, PMID:26147992, PMID:27096895, PMID:27258436, PMID:27628848, PMID:28005958, PMID:28041643, PMID:28181551, PMID:28492532, PMID:28512305, PMID:28819299, PMID:29178642, PMID:29391521, PMID:30718709, PMID:20956273, PMID:24715753, PMID:24339791 RGD:8552697, RGD:8552785, RGD:8552784 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO RGD PMID:24339791 RGD:8552784 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Leber's amaurosis
ClinVar Annotator: match by term: Leber congenital amaurosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9537410, PMID:9931337, PMID:25741868, PMID:26872967, PMID:32165824 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:11527955, PMID:14609921, PMID:15994872, PMID:16280978, PMID:16799052, PMID:17251446, PMID:18450588, PMID:28492532 NCBI chr10:109,528,307...109,540,675
Ensembl chr10:109,533,487...109,540,026
JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25326637 NCBI chr 9:94,425,191...94,550,431
Ensembl chr 9:94,425,252...94,550,431
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:11874764, PMID:15781871, PMID:25741868, PMID:30718709 NCBI chr10:36,345,503...36,363,416
Ensembl chr10:36,345,939...36,360,665
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 9:15,621,083...15,629,017
Ensembl chr 9:15,621,083...15,629,017
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 PMID:8554074, PMID:8944027, PMID:9618177, PMID:9683616, PMID:10676808, PMID:10766140, PMID:11115851, PMID:11565546, PMID:12552567, PMID:15175914, PMID:16505055, PMID:17724218, PMID:17964524, PMID:18055820, PMID:20050595, PMID:20683928, PMID:21602930, PMID:23035049, PMID:24875811, PMID:25477517, PMID:25741868, PMID:26253563, PMID:26298565, PMID:26626312, PMID:28041643, PMID:28492532, PMID:29061346, PMID:29178642, PMID:29559409, PMID:30311386, PMID:30718709, PMID:32165824 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 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:16384941, PMID:30718709 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Iqcb1 IQ motif containing B1 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 PMID:15723066, PMID:20881296, PMID:21220633, PMID:21866095, PMID:23188109, PMID:23559409, PMID:24625443, PMID:25741868, PMID:28041643, PMID:28492532, PMID:28832562, PMID:21220633, PMID:21901789 RGD:11537384, RGD:11537385 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
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 9:94,486,719...94,495,333
Ensembl chr 9:94,487,224...94,495,333
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:10631161, PMID:12642313, PMID:17546029, PMID:18000884, PMID:19503738, PMID:21606596, PMID:23946133, PMID:25356970, PMID:25412400, PMID:26047050, PMID:28041643, PMID:28492532 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
JBrowse link
G Lrat lecithin retinol acyltransferase 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:19339306, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mpp5 membrane palmitoylated protein 5 ISS MouseDO NCBI chr 6:101,923,675...102,029,705
Ensembl chr 6:101,923,785...102,028,592
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leber's disease ClinVar PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:8496715, PMID:11854175, PMID:12205655, PMID:16738010, PMID:17620555 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Myo7a myosin VIIA ISO DNA:missense mutation:cds:c.578C>T (p.T193I)(human) RGD PMID:21901789 RGD:11537385 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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:22842227, PMID:22842229, PMID:22842230, PMID:22842231, PMID:23040504, PMID:24033266, PMID:24625443, PMID:24830548, PMID:24940029, PMID:25741868, PMID:26018082, PMID:26103963, PMID:27032803, PMID:28041643, PMID:28492532, PMID:32581362 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:10839884, PMID:15138899, PMID:25741868 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Leber's amaurosis
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar PMID:25445212, PMID:26920127, PMID:28492532 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr11:71,547,865...71,592,037
Ensembl chr11:71,548,222...71,591,502
JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr18:56,544,652...56,617,480
Ensembl chr18:56,544,652...56,617,480
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:9398847, PMID:9398848, PMID:10384394, PMID:10447258, PMID:11389485, PMID:12402331, PMID:15098231, PMID:16141001, PMID:17055079, PMID:19105186, PMID:21031596, PMID:21846392, PMID:22871920, PMID:24503136, PMID:25412400, PMID:25741868, PMID:26219880, PMID:26287655, PMID:26643206, PMID:27090541, PMID:27872819, PMID:27882258, PMID:28492532 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:30718709 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.L185P(human) RGD PMID:23847139 RGD:8553209 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rbp1 retinol binding protein 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 8:106,449,321...106,470,842
Ensembl chr 8:106,449,321...106,470,842
JBrowse link
G Rd3 retinal degeneration 3, GUCY2D regulator ISO DNA:mutations::
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar PMID:22531706 RGD:11560485 NCBI chr13:110,739,645...110,749,167
Ensembl chr13:110,743,098...110,748,365
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:15258582, PMID:15322982, PMID:16269441, PMID:20683928, PMID:22065924, PMID:25741868, PMID:26497376, PMID:28492532, PMID:29186038, PMID:30134391, PMID:32014858 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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 chr10:97,509,971...97,582,188
Ensembl chr10:97,509,971...97,582,188
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:28492532, PMID:28714225 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 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:9326927, PMID:9326941, PMID:9501220, PMID:10766140, PMID:15024725, PMID:17724218, PMID:18632300, PMID:19339306, PMID:20604683, PMID:21151602, PMID:21911650, PMID:25741868, PMID:26024124, PMID:26047050, PMID:28181551, PMID:28492532, PMID:28714225, PMID:30311386, PMID:30870047 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator treatment ISO RGD PMID:20384479 RGD:8553217 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis
CTD
ClinVar
PMID:11283794, PMID:11528500, PMID:20079931, PMID:24997176, PMID:25741868, PMID:28041643, PMID:28492532, PMID:28714225, PMID:30202406, PMID:30576320, PMID:30718709, PMID:32165824, PMID:32860008 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
G Spata7 spermatogenesis associated 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber's amaurosis
CTD
ClinVar
PMID:19268277 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber's amaurosis
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar PMID:18936139, PMID:23105016, PMID:25342276, PMID:26355662, PMID:28492532, PMID:30054919 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Leber's amaurosis
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar PMID:17085681, PMID:18273898, PMID:22334370, PMID:24033266, PMID:25078356, PMID:25133751, PMID:25324289, PMID:25404053, PMID:25445212, PMID:25741868, PMID:26927203, PMID:27057829, PMID:27957503, PMID:28492532, PMID:28512305, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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, PMID:28492532, PMID:28621010, PMID:32165824 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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 chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
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, PMID:18055820, PMID:22412862, PMID:23737531, PMID:25741868, PMID:28492532 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:11231775, PMID:12843338, PMID:15459956, PMID:16272259, PMID:17128490, PMID:17297678, PMID:18055816, PMID:20079931, PMID:20956273, PMID:22065545, PMID:23379534, PMID:24033266, PMID:25474345, PMID:25741868, PMID:27096895, PMID:27258436, PMID:27628848, PMID:28005958, PMID:28041643, PMID:28181551, PMID:28492532, PMID:28819299, PMID:29178642, PMID:29391521, PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9427255, PMID:26355662, PMID:26682157, PMID:28492532, PMID:30718709 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
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
ClinVar Annotator: match by OMIM:204000
OMIM
ClinVar
PMID:8554074, PMID:8944027, PMID:9618177, PMID:9683616, PMID:9888789, PMID:10676808, PMID:10766140, PMID:10951519, PMID:11035546, PMID:11115851, PMID:11565546, PMID:12325031, PMID:12552567, PMID:15024725, PMID:15175914, PMID:16123401, PMID:16205573, PMID:16505055, PMID:17724218, PMID:17964524, PMID:18055820, PMID:20050595, PMID:20683928, PMID:21602930, PMID:23035049, PMID:23484092, PMID:23847139, PMID:24033266, PMID:24875811, PMID:24997176, PMID:25477517, PMID:25741868, PMID:26047050, PMID:26253563, PMID:26298565, PMID:26352687, PMID:26626312, PMID:26957854, PMID:27422788, PMID:28041643, PMID:28492532, PMID:29061346, PMID:29178642, PMID:29559409, PMID:30311386, PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:11528500, PMID:12920076, PMID:16123401, PMID:16374347, PMID:21224891, PMID:21857984, PMID:22277662, PMID:23105016, PMID:25741868, PMID:27884173, PMID:28041643, PMID:28492532, PMID:30576320 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9462750, PMID:17962469, PMID:25741868, PMID:26394700, PMID:28492532, PMID:29178942 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
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
DNA:frameshift mutations, nonsense mutations:cds, intron:multiple
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:611755
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17554762, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17964524, PMID:18414213, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25445212, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:18079693, PMID:16909394, PMID:17345604 RGD:11537381, RGD:11537378, RGD:11064164 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 10 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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
ClinVar Annotator: match by OMIM:613837
OMIM
ClinVar
PMID:16384941, PMID:17851563, PMID:19480389, PMID:20045992, PMID:20238057, PMID:20718729, PMID:24244438, PMID:25741868, PMID:26558346, PMID:28492532, PMID:30718709 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
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, GUCY2D regulator treatment ISO ClinVar Annotator: match by term: Leber congenital amaurosis 12
ClinVar Annotator: match by OMIM:610612
OMIM
ClinVar
PMID:17186464, PMID:21928830, PMID:22531706, PMID:23308101, PMID:24265693, PMID:24516651, PMID:25741868, PMID:28492532, PMID:23740938 RGD:11560490 NCBI chr13:110,739,645...110,749,167
Ensembl chr13:110,743,098...110,748,365
JBrowse link
Leber congenital amaurosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
ClinVar Annotator: match by OMIM:612712
OMIM
ClinVar
CTD
PMID:15258582, PMID:15322982, PMID:16269441, PMID:17197551, PMID:17389517, PMID:17512964, PMID:17964524, PMID:18779497, PMID:19011012, PMID:19140180, PMID:20006610, PMID:20079931, PMID:20683928, PMID:20736127, PMID:21151602, PMID:22065924, PMID:23105016, PMID:23661369, PMID:23847139, PMID:23900199, PMID:24265693, PMID:24474277, PMID:24625443, PMID:25133751, PMID:25412400, PMID:25494902, PMID:25526675, PMID:25561519, PMID:25741868, PMID:25910913, PMID:26047050, PMID:26103963, PMID:26124963, PMID:26306921, PMID:26355662, PMID:26497376, PMID:26667666, PMID:27032803, PMID:27208204, PMID:28041643, PMID:28157192, PMID:28418496, PMID:28471114, PMID:28492532, PMID:28512305, PMID:28559085, PMID:29178642, PMID:29186038, PMID:30134391, PMID:30311386, PMID:30372751, PMID:30718709, PMID:32014858 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:15258582, PMID:15322982, PMID:16269441, PMID:17389517, PMID:17512964, PMID:18779497, PMID:19011012, PMID:20079931, PMID:20683928, PMID:20736127, PMID:21151602, PMID:22065924, PMID:23847139, PMID:24265693, PMID:24474277, PMID:24625443, PMID:25412400, PMID:25494902, PMID:25561519, PMID:25741868, PMID:25910913, PMID:26047050, PMID:26103963, PMID:26667666, PMID:27208204, PMID:28041643, PMID:28492532, PMID:28512305, PMID:28559085, PMID:30311386 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
Leber congenital amaurosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 14
ClinVar Annotator: match by synonym: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11381255, PMID:17011878, PMID:18055821, PMID:22025579, PMID:25741868, PMID:28492532 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
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
ClinVar Annotator: match by OMIM:613843
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9462750, PMID:9660588, PMID:15024725, PMID:17962469, PMID:18936139, PMID:19339744, PMID:22665969, PMID:23105016, PMID:23847139, PMID:24265693, PMID:25074776, PMID:25342276, PMID:25741868, PMID:26047050, PMID:26355662, PMID:26448634, PMID:28492532, PMID:30054919, PMID:31549751 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
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 This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Leber congenital amaurosis 16
ClinVar PMID:21763485, PMID:25326637, PMID:25475713, PMID:25741868, PMID:25921210, PMID:27203561, PMID:28492532 NCBI chr 9:94,425,191...94,550,431
Ensembl chr 9:94,425,252...94,550,431
JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 16
ClinVar Annotator: match by OMIM:614186
OMIM
ClinVar
PMID:21763485, PMID:25326637, PMID:25475713, PMID:25741868, PMID:25921210, PMID:27203561, PMID:28492532 NCBI chr 9:94,486,719...94,495,333
Ensembl chr 9:94,487,224...94,495,333
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
ClinVar Annotator: match by OMIM:615360
OMIM
ClinVar
PMID:18425797, PMID:19129173, PMID:19864492, PMID:23307924, PMID:24033266, PMID:25741868, PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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 chr 5:35,892,783...35,902,243
Ensembl chr 5:35,892,737...35,902,262
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 chr 5:35,916,763...35,984,525
Ensembl chr 5:35,916,804...35,984,524
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 PMID:15024725, PMID:16543197, PMID:17724218, PMID:17964524, PMID:19140180, PMID:20079931, PMID:20956273, PMID:22065545, PMID:23449718, PMID:25133751, PMID:25323024, PMID:26147992, PMID:28492532 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar PMID:28492532 NCBI chr 2:264,704,738...264,738,265
Ensembl chr 2:264,704,769...264,738,257
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy ClinVar PMID:15024725 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 treatment ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2
ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II
ClinVar Annotator: match by OMIM:204100
DNA:missense mutation:cds:p.R91W (mouse)
human gene in mouse model
DNA:nonsense mutation:cds:p.R44X (mouse)
ClinVar
OMIM
PMID:9326927, PMID:9326941, PMID:9501220, PMID:9801879, PMID:10090910, PMID:10766140, PMID:10937591, PMID:11035546, PMID:11095629, PMID:11295838, PMID:11462243, PMID:11786058, PMID:12960219, PMID:13616783, PMID:14962443, PMID:14971589, PMID:15024725, PMID:15512997, PMID:15557452, PMID:16096063, PMID:16123401, PMID:16123440, PMID:16150724, PMID:16754667, PMID:16828753, PMID:17197551, PMID:17724218, PMID:17964524, PMID:18055820, PMID:18441371, PMID:18484312, PMID:18539930, PMID:18599565, PMID:18632300, PMID:18682808, PMID:18722466, PMID:19117922, PMID:19431183, PMID:19753312, PMID:19854499, PMID:19920137, PMID:19959640, PMID:20079931, PMID:20604683, PMID:20683928, PMID:20801516, PMID:20811047, PMID:21151602, PMID:21153841, PMID:21211845, PMID:21602930, PMID:21654732, PMID:21911650, PMID:22334370, PMID:23591405, PMID:23661369, PMID:24066033, PMID:24265693, PMID:24849605, PMID:24997176, PMID:25097241, PMID:25257057, PMID:25356976, PMID:25495949, PMID:25741868, PMID:25752820, PMID:26024124, PMID:26047050, PMID:26355662, PMID:26364624, PMID:26427455, PMID:26626312, PMID:26656277, PMID:26906952, PMID:27102010, PMID:27208204, PMID:27307694, PMID:27535533, PMID:27874104, PMID:28041643, PMID:28041994, PMID:28130426, PMID:28181551, PMID:28224992, PMID:28393863, PMID:28492532, PMID:28714225, PMID:29178642, PMID:29186038, PMID:29332120, PMID:29659842, PMID:29681726, PMID:29785639, PMID:29947567, PMID:30268864, PMID:30311386, PMID:30628748, PMID:30718709, PMID:30870047, PMID:30996589, PMID:31273949, PMID:31379919, PMID:31725702, PMID:14517541, PMID:17933883, PMID:16505056, PMID:24644049 RGD:737730, RGD:9495932, RGD:9495919, RGD:9495917 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
ClinVar Annotator: match by OMIM:604232
OMIM
ClinVar
PMID:19268277, PMID:20104588, PMID:21310915, PMID:22136677, PMID:22334370, PMID:23847139, PMID:24033266, PMID:24938718, PMID:25133751, PMID:26047050, PMID:26261414, PMID:26854980, PMID:28481129, PMID:28492532 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
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: Leber congenital amaurosis 4
ClinVar Annotator: match by synonym: CONE-ROD DYSTROPHY, AIPL1-RELATED
ClinVar Annotator: match by OMIM:604393
OMIM
ClinVar
PMID:10615133, PMID:10873396, PMID:10927016, PMID:11139241, PMID:12881340, PMID:14555765, PMID:14611946, PMID:15024725, PMID:15249368, PMID:15347646, PMID:15469903, PMID:16052170, PMID:16123401, PMID:16205573, PMID:17964524, PMID:18055820, PMID:18408180, PMID:18682808, PMID:20683928, PMID:20702822, PMID:21153841, PMID:21474771, PMID:22347407, PMID:22412862, PMID:23737531, PMID:24093488, PMID:25148430, PMID:25596619, PMID:25741868, PMID:25799540, PMID:26306921, PMID:26650897, PMID:27268253, PMID:28041643, PMID:28492532, PMID:28973376, PMID:29178642, PMID:30576320, PMID:30718709 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
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
ClinVar Annotator: match by OMIM:604537
OMIM
ClinVar
PMID:10631161, PMID:12642313, PMID:16123401, PMID:17546029, PMID:18000884, PMID:19503738, PMID:21606596, PMID:23946133, PMID:24144451, PMID:24474277, PMID:25356970, PMID:25741868, PMID:26352687, PMID:27624628, PMID:28492532, PMID:30311386, PMID:32214227 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
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:17397051, PMID:25741868 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 6
ClinVar Annotator: match by OMIM:613826
OMIM
ClinVar
PMID:11283794, PMID:11528500, PMID:12920076, PMID:14971589, PMID:15024725, PMID:15800011, PMID:16123401, PMID:16339905, PMID:16374347, PMID:17964524, PMID:18055816, PMID:20079931, PMID:21153841, PMID:21224891, PMID:21857984, PMID:22025579, PMID:22277662, PMID:23105016, PMID:24123792, PMID:24265693, PMID:24997176, PMID:25741868, PMID:26047050, PMID:26667666, PMID:27884173, PMID:28041643, PMID:28181551, PMID:28492532, PMID:28714225, PMID:29844330, PMID:30072743, PMID:30202406, PMID:30576320, PMID:30718709, PMID:32165824, PMID:32860008 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
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 DNA:deletions:cds (human)
ClinVar Annotator: match by term: Leber congenital amaurosis 7
ClinVar Annotator: match by OMIM:613829
ClinVar
OMIM
PMID:9427255, PMID:9537410, PMID:9792858, PMID:9931337, PMID:10766140, PMID:11139241, PMID:11748859, PMID:11971869, PMID:12208271, PMID:12359607, PMID:12843339, PMID:15994872, PMID:16123401, PMID:17964524, PMID:18682808, PMID:22960069, PMID:23049240, PMID:23806086, PMID:24088041, PMID:24265693, PMID:24516401, PMID:25259927, PMID:25270190, PMID:25326637, PMID:25741868, PMID:26161267, PMID:26355662, PMID:26682157, PMID:27624628, PMID:28492532, PMID:28945142, PMID:28966547, PMID:29068479, PMID:30543658, PMID:30557390, PMID:30718709, PMID:31215831, PMID:9537410 RGD:734827 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Sult2a1 sulfotransferase family 2A member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 7 ClinVar PMID:28492532, PMID:30557390 NCBI chr 1:76,558,721...76,614,315
Ensembl chr 1:76,252,329...76,780,230
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
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:613835
OMIM
ClinVar
PMID:1389483, PMID:1427914, PMID:2906847, PMID:10508521, PMID:11231775, PMID:11389483, PMID:12567265, PMID:12700176, PMID:12843338, PMID:14971589, PMID:15024725, PMID:15459956, PMID:15623792, PMID:16123401, PMID:16272259, PMID:16505055, PMID:16543197, PMID:17128490, PMID:17297678, PMID:17525851, PMID:17724218, PMID:17964524, PMID:18055816, PMID:18682808, PMID:19140180, PMID:19339744, PMID:19401883, PMID:20079931, PMID:20301475, PMID:20683928, PMID:20956273, PMID:21602930, PMID:22065545, PMID:22277662, PMID:22968130, PMID:23105016, PMID:23379534, PMID:23449718, PMID:23462753, PMID:23591405, PMID:23592920, PMID:24033266, PMID:24265693, PMID:24512366, PMID:24715753, PMID:24938718, PMID:25097241, PMID:25133751, PMID:25323024, PMID:25474345, PMID:25741868, PMID:26047050, PMID:26147992, PMID:26667666, PMID:27096895, PMID:27113771, PMID:27157150, PMID:27258436, PMID:27375279, PMID:27380427, PMID:27628848, PMID:28005958, PMID:28041643, PMID:28129017, PMID:28181551, PMID:28341475, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28819299, PMID:29068479, PMID:29178642, PMID:29186038, PMID:29391521, PMID:30029497, PMID:30311386, PMID:30576320, PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
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: Leber congenital amaurosis 9
ClinVar Annotator: match by OMIM:608553
OMIM
ClinVar
PMID:12734549, PMID:22842227, PMID:22842229, PMID:22842230, PMID:22842231, PMID:23040504, PMID:24033266, PMID:24625443, PMID:24830548, PMID:24940029, PMID:25741868, PMID:26018082, PMID:26103963, PMID:26316326, PMID:27032803, PMID:28041643, PMID:28492532, PMID:29178642, PMID:30311386, PMID:32581362 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
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 3:2,441,585...2,444,369
Ensembl chr 3:2,441,733...2,444,281
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: Retinitis pigmentosa 7, digenic
ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 18
ClinVar Annotator: match by OMIM:608133
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1684223, PMID:7880786, PMID:8019570, PMID:8020945, PMID:8111389, PMID:8202715, PMID:9443872, PMID:11297544, PMID:12925772, PMID:23847139, PMID:25447119, PMID:25741868, PMID:28076437, PMID:28492532, PMID:28559085, PMID:29555955 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar
PMID:7904211, PMID:8202715, PMID:16799052, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
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 chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Cep290 centrosomal protein 290 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:25741868, PMID:28492532 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Iqcb1 IQ motif containing B1 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar Annotator: match by term: Senior Loken syndrome
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:15723066, PMID:20881296, PMID:21220633, PMID:21245082, PMID:21866095, PMID:23188109, PMID:23446637, PMID:23847139, PMID:24033266, PMID:24625443, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loken-Senior syndrome
CTD
ClinVar
PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Nphp4 nephrocystin 4 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:28492532 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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:9856524, PMID:10712196, PMID:15138899, PMID:16155189, PMID:24746959, PMID:25741868, PMID:27491411, PMID:28492532, PMID:28624958, PMID:30311386 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
Senior-Loken Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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
ClinVar Annotator: match by OMIM:606996
OMIM
ClinVar
PMID:1248184, PMID:6837691, PMID:11920287, PMID:12205563, PMID:15776426, PMID:17855640, PMID:21068128, PMID:21546380, PMID:22550138, PMID:22773737, PMID:23167750, PMID:23188109, PMID:24033266, PMID:25445212, PMID:25472526, PMID:25741868, PMID:26346198, PMID:26920127, PMID:27004616, PMID:28492532, PMID:29127258 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
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
DNA:frameshift mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by OMIM:609254
OMIM
ClinVar
PMID:15723066, PMID:18076122, PMID:20881296, PMID:21220633, PMID:21245082, PMID:21866095, PMID:22183348, PMID:22261762, PMID:22773737, PMID:23188109, PMID:23446637, PMID:23559409, PMID:23847139, PMID:24066033, PMID:24625443, PMID:25741868, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28832562, PMID:29053603, PMID:30718709, PMID:15723066 RGD:11537383 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
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
ClinVar Annotator: match by OMIM:610189
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:18414213, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386, PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Senior-Loken Syndrome 7 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: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:94,807,090...94,887,448
Ensembl chr13:94,807,756...94,859,436
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar Annotator: match by OMIM:613615
OMIM
ClinVar
PMID:20835237, PMID:21866095, PMID:22190896, PMID:22626039, PMID:23188109, PMID:25741868, PMID:28492532 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
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
ClinVar Annotator: match by term: Senior-loken syndrome 8
OMIM
ClinVar
PMID:22019273, PMID:23559409, PMID:23683095, PMID:25726036, PMID:25741868, PMID:26260382, PMID:26275793, PMID:27241786, PMID:27596865, PMID:28492532, PMID:28621010, PMID:28973083, PMID:29068549, PMID:32165824 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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:26487268 NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      eye disease 2665
        retinal disease 783
          Leber congenital amaurosis 73
            Amaurosis Hypertrichosis 1
            LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 1
            Leber Congenital Amaurosis 19 2
            Leber congenital amaurosis 1 9
            Leber congenital amaurosis 10 2
            Leber congenital amaurosis 11 1
            Leber congenital amaurosis 12 1
            Leber congenital amaurosis 13 2
            Leber congenital amaurosis 14 1
            Leber congenital amaurosis 15 1
            Leber congenital amaurosis 16 2
            Leber congenital amaurosis 17 1
            Leber congenital amaurosis 2 4
            Leber congenital amaurosis 3 1
            Leber congenital amaurosis 4 1
            Leber congenital amaurosis 5 1
            Leber congenital amaurosis 6 2
            Leber congenital amaurosis 7 2
            Leber congenital amaurosis 8 1
            Leber congenital amaurosis 9 1
            Senior-Loken syndrome + 14
            retinitis pigmentosa 7 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          eye disease 2665
            Hereditary Eye Diseases 580
              Leber congenital amaurosis 73
                Amaurosis Hypertrichosis 1
                LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 1
                Leber Congenital Amaurosis 19 2
                Leber congenital amaurosis 1 9
                Leber congenital amaurosis 10 2
                Leber congenital amaurosis 11 1
                Leber congenital amaurosis 12 1
                Leber congenital amaurosis 13 2
                Leber congenital amaurosis 14 1
                Leber congenital amaurosis 15 1
                Leber congenital amaurosis 16 2
                Leber congenital amaurosis 17 1
                Leber congenital amaurosis 2 4
                Leber congenital amaurosis 3 1
                Leber congenital amaurosis 4 1
                Leber congenital amaurosis 5 1
                Leber congenital amaurosis 6 2
                Leber congenital amaurosis 7 2
                Leber congenital amaurosis 8 1
                Leber congenital amaurosis 9 1
                Senior-Loken syndrome + 14
                retinitis pigmentosa 7 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.