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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: Hereditary Epithelial Dysplasia of Retina;   Hereditary Retinal Aplasia;   Heredoretinopathia Congenitalis;   LCA;   Leber Abiotrophy;   Leber Amaurosis;   Leber Congenital Amauroses;   Leber abiotrophies;   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 PMID:9781034 PMID:10090887 PMID:10711710 PMID:10958761 PMID:11527935 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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 chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
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 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
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
RGD
PMID:10615133 PMID:10873396 PMID:15024725 PMID:15249368 PMID:15347646 More... RGD:70801, RGD:8696012, RGD:8696011 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:20805371 PMID:25741868 PMID:30718709 NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
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
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:8662304 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:26820066 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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:11124331 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
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
RGD
PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12567265 More... RGD:8552697, RGD:8552785, RGD:8552784 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO RGD PMID:24339791 RGD:8552784 NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
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 chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322
JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar PMID:25741868 PMID:28135719 PMID:31205050 PMID:32165824 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25326637 NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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 chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25445212 PMID:28492532 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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:8944027 PMID:9683616 PMID:10676808 PMID:10766140 PMID:10951519 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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
RGD
PMID:15723066 PMID:20881296 PMID:21220633 PMID:21866095 PMID:21901789 More... RGD:11537384, RGD:11537385 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:8571951 PMID:12642313 PMID:17546029 PMID:19503738 PMID:20301475 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
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 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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 More... 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 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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 More... NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:10839884 PMID:15138899 PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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:24891813 PMID:25703721 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
JBrowse link
G Pals1 protein associated with LIN7 1, MAGUK p55 family member ISS MouseDO NCBI chr 6:97,548,133...97,654,163
Ensembl chr 6:97,548,630...97,653,305
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357
JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr18:54,676,863...54,749,644
Ensembl chr18:54,676,863...54,748,816
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 PMID:33673512 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:30718709 NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.L185P(human) RGD PMID:23847139 RGD:8553209 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Rbp1 retinol binding protein 1 ISO ClinVar Annotator: match by term: Leber's amaurosis ClinVar NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
JBrowse link
G Rd3 RD3 regulator of GUCY2D ISO DNA:mutations::
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar
RGD
PMID:22531706 RGD:11560485 NCBI chr13:103,551,823...103,562,925
Ensembl chr13:103,552,857...103,562,622
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 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17197551 PMID:17389517 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:25741868 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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 chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar PMID:28492532 NCBI chr 9:24,696,959...25,196,368
Ensembl chr 9:24,698,854...25,196,631
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:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
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:9536098 PMID:10090910 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator treatment ISO RGD PMID:20384479 RGD:8553217 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
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:23105016 PMID:24997176 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis ClinVar NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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:8606774 PMID:10549638 PMID:15024725 PMID:18055821 PMID:18936139 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Leber's amaurosis
ClinVar Annotator: match by term: Leber congenital amaurosis
ClinVar PMID:10909849 PMID:17085681 PMID:18273898 PMID:20507924 PMID:22334370 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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 chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:10508521 PMID:11231775 PMID:12843338 PMID:15459956 PMID:16272259 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1
ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I
ClinVar Annotator: match by OMIM:204000
OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9618177 PMID:9683616 PMID:9888789 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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:16199547 PMID:16374347 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9462750 PMID:17962469 PMID:21792230 PMID:25741868 PMID:26394700 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
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
RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... RGD:11537381, RGD:11537378, RGD:11064164 NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 10 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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 More... NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
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
ClinVar Annotator: match by OMIM:610612
OMIM
ClinVar
RGD
PMID:17186464 PMID:21928830 PMID:22531706 PMID:23301801 PMID:23308101 More... RGD:11560490 NCBI chr13:103,551,823...103,562,925
Ensembl chr13:103,552,857...103,562,622
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 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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 6:97,656,725...97,672,211
Ensembl chr 6:97,656,576...97,672,303
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 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
JBrowse link
G Fam71d family with sequence similarity 71, member D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,489,562...97,534,729
Ensembl chr 6:97,490,368...97,534,763
JBrowse link
G Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:95,948,230...96,176,677
Ensembl chr 6:95,949,991...96,176,677
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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 6:97,548,133...97,654,163
Ensembl chr 6:97,548,630...97,653,305
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 6:97,874,903...97,897,188
Ensembl chr 6:97,882,903...97,897,142
JBrowse link
G Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,700,123...97,719,417
Ensembl chr 6:97,701,106...97,719,326
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 6:97,839,288...97,888,712
Ensembl chr 6:97,839,288...97,888,709
JBrowse link
G Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:98,096,525...98,640,988
Ensembl chr 6:98,098,868...98,640,979
JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Retinitis pigmentosa 53
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612712
OMIM
ClinVar
CTD
PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:97,771,645...97,819,582
Ensembl chr 6:97,775,332...97,819,489
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 6:97,957,700...97,976,491
Ensembl chr 6:97,961,346...97,976,465
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
ClinVar Annotator: match by term: Leber congenital amaurosis 14
ClinVar Annotator: match by synonym: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
OMIM
ClinVar
PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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:8606774 PMID:9462750 PMID:9660588 PMID:10549638 PMID:15024725 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
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:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:25326637 More... NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:25326637 More... NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
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 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
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 5:35,294,652...35,304,101
Ensembl chr 5:35,294,645...35,304,101
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 5:35,318,621...35,392,090
Ensembl chr 5:35,318,635...35,389,420
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 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar PMID:28492532 NCBI chr 2:248,684,508...248,717,951
Ensembl chr 2:248,684,523...248,717,951
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy ClinVar PMID:15024725 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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
RGD
PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 PMID:9801879 More... RGD:737730, RGD:9495932, RGD:9495919, RGD:9495917 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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:9536098 PMID:10615133 PMID:10873396 PMID:10927016 PMID:11139241 More... NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G LOC100912483 uncharacterized LOC100912483 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,840,451...56,843,674
Ensembl chr10:56,832,412...56,843,871
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 chr10:56,836,944...56,840,326
Ensembl chr10:56,836,944...56,840,326
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 chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791
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 chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
JBrowse link
G RGD1304728 similar to 4933427D14Rik protein ISO ClinVar Annotator: match by term: Leber congenital amaurosis 4 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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 chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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 chr10:56,832,749...56,835,721 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 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
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 chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
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 chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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
RGD
PMID:9390563 PMID:9427255 PMID:9536098 PMID:9537410 PMID:9792858 More... RGD:734827 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
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 1:75,451,178...75,508,142 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:9536098 PMID:10508521 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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:9536098 PMID:12734549 PMID:17576681 PMID:22842227 PMID:22842229 More... NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296
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
ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 18
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1684223 PMID:7825692 PMID:7880786 PMID:7904791 PMID:8019570 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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 chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175
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 chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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 More... NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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 chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar PMID:18414213 PMID:20301500 PMID:21258341 PMID:24876116 PMID:25741868 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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 chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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
RGD
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... RGD:11537383 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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 OMIM:610189
ClinVar Annotator: match by term: Senior-Loken syndrome 6
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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:20835237 PMID:22190896 PMID:25640679 PMID:28492532 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027800 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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
ClinVar Annotator: match by term: Senior-loken syndrome 9
OMIM
ClinVar
PMID:25741868 PMID:26487268 PMID:28492532 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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:32533184 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    physical disorder 3093
      Leber congenital amaurosis 97
        Amaurosis Hypertrichosis 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 16
        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 8
        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 + 13
        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 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        sensory system disease 5658
          eye disease 2766
            retinal disease 841
              Leber congenital amaurosis 97
                Amaurosis Hypertrichosis 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 16
                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 8
                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 + 13
                retinitis pigmentosa 7 2
                spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
paths to the root