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Leber congenital amaurosis 13 - Ontology Report - Rat Genome Database

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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 13
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Accession:DOID:0110330 term browser browse the term
Definition:A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)
Synonyms:exact_synonym: LCA13;   RDH12-RELATED CONDITION
 narrow_synonym: RETINITIS PIGMENTOSA 53;   RP53
 primary_id: MESH:C567197
 alt_id: MIM:612712

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Leber congenital amaurosis 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Arg2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,321,161...33,352,306
Ensembl chrNW_004624734:33,321,295...33,352,277 		JBrowse link
G G ARG2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,851,139...44,884,118
Ensembl chr24:44,851,175...44,883,853 		JBrowse link
G P ARG2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,988...91,385,909 		JBrowse link
G S Arg2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:11,004,296...11,045,467
Ensembl chrNW_004936495:11,004,176...11,045,472 		JBrowse link
G D ARG2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,588,051...41,619,406
Ensembl chr 8:41,588,150...41,619,402 		JBrowse link
G B ARG2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962 		JBrowse link
G C Arg2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,549,557...2,577,060
Ensembl chrNW_004955466:2,549,557...2,577,060 		JBrowse link
G R Arg2 arginase 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,669,001...103,694,375
Ensembl chr 6:97,936,002...97,961,378 		JBrowse link
G M Arg2 arginase type II ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075 		JBrowse link
G H ARG2 arginase 2 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708 		JBrowse link
G N Atp6v1d ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,640,842...33,669,471
Ensembl chrNW_004624734:33,640,839...33,657,745 		JBrowse link
G G ATP6V1D ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,578,057...44,598,918
Ensembl chr24:44,578,807...44,598,394 		JBrowse link
G P ATP6V1D ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,065,998...91,084,908
Ensembl chr 7:91,064,396...91,084,913 		JBrowse link
G S Atp6v1d ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532
G D ATP6V1D ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,332,581...41,354,058
Ensembl chr 8:41,333,021...41,354,320 		JBrowse link
G B ATP6V1D ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:47,913,254...47,935,376 JBrowse link
G C Atp6v1d ATPase H+ transporting V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,855,597...2,869,319
Ensembl chrNW_004955466:2,854,889...2,869,950 		JBrowse link
G R 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...97,672,295
Ensembl chr 6:97,656,576...97,672,303 		JBrowse link
G M Atp6v1d ATPase, H+ transporting, lysosomal V1 subunit D ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,889,756...78,908,810
Ensembl chr12:78,887,499...78,908,412 		JBrowse link
G H ATP6V1D ATPase H+ transporting V1 subunit D IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265 		JBrowse link
G N Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,624,246...33,640,667
Ensembl chrNW_004624734:33,621,782...33,640,549 		JBrowse link
G G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,599,017...44,623,723
Ensembl chr24:44,598,287...44,623,298 		JBrowse link
G P EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,085,025...91,109,835
Ensembl chr 7:91,085,335...91,109,827 		JBrowse link
G S Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:10,746,687...10,769,304
Ensembl chrNW_004936495:10,745,923...10,773,199 		JBrowse link
G D EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,354,400...41,371,676
Ensembl chr 8:41,351,244...41,371,056 		JBrowse link
G B EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:47,935,691...47,960,055
Ensembl chr14:66,813,953...66,839,866 		JBrowse link
G C Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,838,785...2,855,443
Ensembl chrNW_004955466:2,838,785...2,855,172 		JBrowse link
G R Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:97,672,766...97,706,225 		JBrowse link
G M Eif2s1 eukaryotic translation initiation factor 2, subunit 1 alpha ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,908,846...78,933,784
Ensembl chr12:78,908,593...78,933,784 		JBrowse link
G H EIF2S1 eukaryotic translation initiation factor 2 subunit alpha IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,360,328...67,386,516
Ensembl chr14:67,360,328...67,386,516 		JBrowse link
G N Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:35,257,666...35,617,275
Ensembl chrNW_004624734:35,264,019...35,458,277 		JBrowse link
G G FUT8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:42,627,340...42,965,505
Ensembl chr24:42,788,132...42,968,124 		JBrowse link
G P FUT8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:89,395,637...89,680,502
Ensembl chr 7:89,519,730...89,680,489 		JBrowse link
G S Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:9,012,425...9,341,538
Ensembl chrNW_004936495:9,115,938...9,344,068 		JBrowse link
G D FUT8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:39,670,629...39,972,729
Ensembl chr 8:39,825,246...39,972,612 		JBrowse link
G B FUT8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:45,983,149...46,310,318
Ensembl chr14:65,016,869...65,193,111 		JBrowse link
G C Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:4,248,414...4,481,942
Ensembl chrNW_004955466:4,246,336...4,399,751 		JBrowse link
G R Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:101,682,354...101,909,784
Ensembl chr 6:95,949,991...96,176,677 		JBrowse link
G M Fut8 fucosyltransferase 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:77,284,878...77,522,770
Ensembl chr12:77,284,899...77,523,112 		JBrowse link
G H FUT8 fucosyltransferase 8 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G N Garin2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,780,215...33,846,638
Ensembl chrNW_004624734:33,804,462...33,834,540 		JBrowse link
G G GARIN2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,428,348...44,470,804
Ensembl chr24:44,437,171...44,466,718 		JBrowse link
G P GARIN2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:90,929,799...90,947,079
Ensembl chr 7:90,923,591...90,942,383 		JBrowse link
G S Garin2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:10,575,645...10,623,152
Ensembl chrNW_004936495:10,576,316...10,617,405 		JBrowse link
G D GARIN2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,223,071...41,237,619
Ensembl chr 8:41,219,653...41,245,895 		JBrowse link
G B GARIN2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:47,771,972...47,803,206
Ensembl chr14:66,650,977...66,677,965 		JBrowse link
G C Garin2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,968,538...3,009,551
Ensembl chrNW_004955466:2,971,683...3,004,016 		JBrowse link
G R Garin2 golgi associated RAB2 interactor family member 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,223,142...103,267,822
Ensembl chr 6:97,490,368...97,534,763 		JBrowse link
G M Garin2 golgi associated RAB2 interactor 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,738,257...78,781,290
Ensembl chr12:78,738,309...78,781,290 		JBrowse link
G H GARIN2 golgi associated RAB2 interactor family member 2 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,189,440...67,228,558
Ensembl chr14:67,189,393...67,228,550 		JBrowse link
G N Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004624734:33,871,664...34,483,770
Ensembl chrNW_004624734:33,870,997...34,483,508 		JBrowse link
G G GPHN gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr24:43,702,384...44,421,890
Ensembl chr24:43,880,344...44,422,276 		JBrowse link
G P GPHN gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455 		JBrowse link
G S Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		JBrowse link
G D GPHN gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245 		JBrowse link
G B GPHN gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr14:47,081,527...47,755,182
Ensembl chr14:66,137,166...66,634,550 		JBrowse link
G C Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004955466:3,017,474...3,526,375
Ensembl chrNW_004955466:3,016,479...3,526,231 		JBrowse link
G R Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G M Gphn gephyrin ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G H GPHN gephyrin IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G N Pals1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,659,625...33,758,680
Ensembl chrNW_004624734:33,658,975...33,721,548 		JBrowse link
G 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 chr24:44,483,005...44,576,017
Ensembl chr24:44,483,199...44,573,172 		JBrowse link
G P 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 7:90,955,524...91,055,923
Ensembl chr 7:90,984,394...91,055,620 		JBrowse link
G S Pals1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:10,636,762...10,729,060
Ensembl chrNW_004936495:10,636,670...10,725,647 		JBrowse link
G D PALS1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,230,230...41,330,017
Ensembl chr 8:41,275,947...41,327,348 		JBrowse link
G B PALS1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:47,814,896...47,911,206
Ensembl chr14:66,693,863...66,790,122 		JBrowse link
G C Pals1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,871,445...2,937,296
Ensembl chrNW_004955466:2,874,058...2,918,122 		JBrowse link
G R 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 6:103,327,965...103,384,543
Ensembl chr 6:97,548,630...97,653,305 		JBrowse link
G M Pals1 protein associated with LIN7 1, MAGUK family member ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,795,606...78,887,488
Ensembl chr12:78,795,681...78,887,488 		JBrowse link
G H PALS1 protein associated with LIN7 1, MAGUK p55 family member IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,241,435...67,336,061
Ensembl chr14:67,240,713...67,336,061 		JBrowse link
G N Pigh phosphatidylinositol glycan anchor biosynthesis class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,398,446...33,414,710
Ensembl chrNW_004624734:33,398,584...33,411,979 		JBrowse link
G G PIGH phosphatidylinositol glycan anchor biosynthesis class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,790,528...44,848,870
Ensembl chr24:44,838,242...44,848,598 		JBrowse link
G P PIGH phosphatidylinositol glycan anchor biosynthesis class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,306,119...91,316,348
Ensembl chr 7:91,306,121...91,316,278 		JBrowse link
G S Pigh phosphatidylinositol glycan anchor biosynthesis class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:10,971,448...10,979,622
Ensembl chrNW_004936495:10,969,364...10,979,620 		JBrowse link
G D PIGH phosphatidylinositol glycan anchor biosynthesis class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,557,773...41,565,309
Ensembl chr 8:41,557,771...41,565,279 		JBrowse link
G B PIGH phosphatidylinositol glycan anchor biosynthesis class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:48,160,062...48,178,253
Ensembl chr14:67,045,451...67,056,371 		JBrowse link
G C Pigh phosphatidylinositol glycan anchor biosynthesis class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,601,368...2,616,255
Ensembl chrNW_004955466:2,601,394...2,616,255 		JBrowse link
G R 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 M Pigh phosphatidylinositol glycan anchor biosynthesis, class H ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,127,443...79,136,478
Ensembl chr12:79,127,438...79,136,425 		JBrowse link
G H PIGH phosphatidylinositol glycan anchor biosynthesis class H IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,589,306...67,600,301
Ensembl chr14:67,581,955...67,600,286 		JBrowse link
G N Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,586,527...33,621,114
Ensembl chrNW_004624734:33,586,482...33,621,114 		JBrowse link
G G PLEK2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,626,830...44,654,620
Ensembl chr24:44,622,248...44,653,976 		JBrowse link
G P PLEK2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,110,327...91,133,210
Ensembl chr 7:91,109,455...91,132,843 		JBrowse link
G S Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:10,772,730...10,784,319
Ensembl chrNW_004936495:10,768,704...10,798,628 		JBrowse link
G D PLEK2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,373,779...41,394,718
Ensembl chr 8:41,281,509...41,393,351 		JBrowse link
G B PLEK2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:47,962,082...47,990,237
Ensembl chr14:66,840,329...66,868,249 		JBrowse link
G C Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,818,004...2,836,688
Ensembl chrNW_004955466:2,817,939...2,836,688 		JBrowse link
G R Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,434,156...103,452,457
Ensembl chr 6:97,701,106...97,719,326 		JBrowse link
G M Plek2 pleckstrin 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:78,935,465...78,955,166
Ensembl chr12:78,935,465...78,953,738 		JBrowse link
G H PLEK2 pleckstrin 2 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,386,984...67,412,165
Ensembl chr14:67,386,984...67,412,167 		JBrowse link
G N Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,411,271...33,456,003
Ensembl chrNW_004624734:33,413,087...33,449,932 		JBrowse link
G G PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,781,699...44,835,802
Ensembl chr24:44,790,362...44,835,351 		JBrowse link
G S Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:10,921,136...10,971,349
Ensembl chrNW_004936495:10,929,656...10,969,350 		JBrowse link
G D PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,508,866...41,560,054
Ensembl chr 8:41,508,740...41,559,932 		JBrowse link
G B PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:48,111,017...48,167,541
Ensembl chr14:66,989,471...67,045,677 		JBrowse link
G C Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,616,627...2,653,804
Ensembl chrNW_004955466:2,618,585...2,653,771 		JBrowse link
G R 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 M Plekhh1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,075,937...79,128,429
Ensembl chr12:79,075,937...79,128,429 		JBrowse link
G H PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,533,290...67,589,612
Ensembl chr14:67,533,290...67,589,612 		JBrowse link
G N Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:32,560,579...33,173,357 JBrowse link
G G RAD51B RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:45,056,485...45,704,394 JBrowse link
G P RAD51B RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,592,413...92,301,383
Ensembl chr 7:91,592,424...92,345,294 		JBrowse link
G S Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:11,185,560...11,762,254
Ensembl chrNW_004936495:11,195,767...11,467,458 		JBrowse link
G D RAD51B RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,779,435...42,357,362
Ensembl chr 8:41,778,714...42,357,298 		JBrowse link
G B RAD51B RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:48,399,345...49,314,577
Ensembl chr14:67,281,148...68,110,693 		JBrowse link
G C Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:1,686,472...2,388,146
Ensembl chrNW_004955466:2,137,192...2,381,450 		JBrowse link
G R Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,829,390...104,373,923
Ensembl chr 6:98,098,868...98,640,979 		JBrowse link
G M Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,344,032...79,895,034
Ensembl chr12:79,344,056...79,861,464 		JBrowse link
G H RAD51B RAD51 paralog B IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,819,779...68,683,096
Ensembl chr14:67,819,779...68,730,218 		JBrowse link
G N Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,283,336...33,295,797
Ensembl chrNW_004624734:33,283,497...33,295,091 		JBrowse link
G G RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,911,830...44,932,632
Ensembl chr24:44,909,001...44,932,611 		JBrowse link
G P RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,415,041...91,452,530
Ensembl chr 7:91,415,042...91,452,405 		JBrowse link
G S Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:11,065,946...11,082,104
Ensembl chrNW_004936495:11,066,660...11,082,044 		JBrowse link
G D RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,651,970...41,669,661
Ensembl chr 8:41,614,921...41,669,576 		JBrowse link
G B RDH11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:48,256,951...48,275,831
Ensembl chr14:67,135,366...67,154,286 		JBrowse link
G C Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,506,641...2,521,506
Ensembl chrNW_004955466:2,508,338...2,520,903 		JBrowse link
G R Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,712,373...103,728,247
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
G M Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,221,007...79,238,629
Ensembl chr12:79,221,111...79,239,067 		JBrowse link
G H RDH11 retinol dehydrogenase 11 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793 		JBrowse link
G N Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004624734:33,256,469...33,266,085
Ensembl chrNW_004624734:33,254,432...33,266,140 		JBrowse link
G G RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr24:44,957,854...44,971,855
Ensembl chr24:44,959,921...44,971,836 		JBrowse link
G P RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 7:91,481,238...91,493,838
Ensembl chr 7:91,481,272...91,493,809 		JBrowse link
G S Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341 		JBrowse link
G D RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 8:41,685,045...41,696,120
Ensembl chr 8:41,684,996...41,695,447 		JBrowse link
G B RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345 		JBrowse link
G C Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 OMIM
ClinVar		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004955466:2,473,145...2,485,779
Ensembl chrNW_004955466:2,473,096...2,487,623 		JBrowse link
G R Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G M Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		JBrowse link
G H RDH12 retinol dehydrogenase 12 IAGP
EXP		 ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451 		JBrowse link
G N Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,483,415...33,527,899
Ensembl chrNW_004624734:33,483,425...33,527,899 		JBrowse link
G G TMEM229B transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,719,179...44,764,187
Ensembl chr24:44,719,837...44,720,337 		JBrowse link
G P TMEM229B transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,181,474...91,190,162 JBrowse link
G S Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:10,858,641...10,900,379
Ensembl chrNW_004936495:10,861,586...10,873,876 		JBrowse link
G D TMEM229B transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,452,231...41,490,059
Ensembl chr 8:41,452,371...41,452,877 		JBrowse link
G B TMEM229B transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:48,048,101...48,093,447
Ensembl chr14:66,929,386...66,929,889 		JBrowse link
G C Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,672,966...2,733,431
Ensembl chrNW_004955466:2,715,192...2,733,431 		JBrowse link
G R Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,509,457...103,552,600
Ensembl chr 6:97,775,332...97,819,489 		JBrowse link
G M Tmem229b transmembrane protein 229B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,008,569...79,054,333
Ensembl chr12:79,008,569...79,054,401 		JBrowse link
G H TMEM229B transmembrane protein 229B IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,470,269...67,533,850
Ensembl chr14:67,447,084...67,533,739 		JBrowse link
G N Vti1b vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004624734:33,299,732...33,341,672
Ensembl chrNW_004624734:33,299,373...33,321,199 		JBrowse link
G G VTI1B vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr24:44,884,082...44,907,819
Ensembl chr24:44,884,315...44,907,771 		JBrowse link
G P VTI1B vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 7:91,386,020...91,413,480
Ensembl chr 7:91,374,640...91,413,607 		JBrowse link
G S Vti1b vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004936495:11,043,813...11,064,113
Ensembl chrNW_004936495:11,045,429...11,064,206 		JBrowse link
G D VTI1B vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 8:41,619,365...41,650,389
Ensembl chr29:19,153,616...19,154,245
Ensembl chr 8:19,153,616...19,154,245 		JBrowse link
G B VTI1B vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:48,227,203...48,254,990
Ensembl chr14:67,105,160...67,134,351 		JBrowse link
G C Vti1b vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chrNW_004955466:2,527,750...2,549,599
Ensembl chrNW_004955466:2,527,753...2,549,568 		JBrowse link
G R Vti1b vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr 6:103,694,342...103,709,544
Ensembl chr 6:97,961,346...97,976,465 		JBrowse link
G M Vti1b vesicle transport through interaction with t-SNAREs 1B ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr12:79,202,791...79,219,428
Ensembl chr12:79,202,791...79,219,441 		JBrowse link
G H VTI1B vesicle transport through interaction with t-SNAREs 1B IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13 ClinVar PMID:28492532 NCBI chr14:67,647,085...67,674,632
Ensembl chr14:67,647,085...67,674,820 		JBrowse link
G N Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004624734:33,175,080...33,240,484
Ensembl chrNW_004624734:33,175,041...33,238,664 		JBrowse link
G G ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr24:44,986,610...45,053,801
Ensembl chr24:44,986,609...45,053,134 		JBrowse link
G P ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 7:91,518,444...91,590,480
Ensembl chr 7:91,518,452...91,590,449 		JBrowse link
G S Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863 		JBrowse link
G D ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 8:41,714,654...41,777,996
Ensembl chr 8:41,715,485...41,777,422 		JBrowse link
G B ZFYVE26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr14:48,326,517...48,396,486
Ensembl chr14:67,206,236...67,273,580 		JBrowse link
G C Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chrNW_004955466:2,389,893...2,453,487
Ensembl chrNW_004955466:2,390,527...2,451,664 		JBrowse link
G R Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr 6:103,764,864...103,828,520
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
G M Zfyve26 zinc finger, FYVE domain containing 26 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078 		JBrowse link
G H ZFYVE26 zinc finger FYVE-type containing 26 IAGP ClinVar Annotator: match by term: Leber congenital amaurosis 13
ClinVar Annotator: match by term: RDH12-related condition
ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53		 ClinVar PMID:2855908 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 More... NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      Leber congenital amaurosis 1337
        Leber congenital amaurosis 13 159
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              retinal disease 15895
                Leber congenital amaurosis 1337
                  Leber congenital amaurosis 13 159
paths to the root