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ocular albinism 1 - 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:ocular albinism 1
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Accession:DOID:0050633 term browser browse the term
Definition:An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO)
Synonyms:exact_synonym: Nettleship-Falls type ocular albinism;   OA1;   Ocular Albinism Type 1;   ocular albinism;   ocular albinism type I
 broad_synonym: GPR143-RELATED CONDITION
 primary_id: MESH:D016117
 alt_id: DOID:9005467;   MESH:C537863;   MIM:300500
 xref: NCI:C118785

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ocular albinism 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chrNW_004624828:6,710,081...6,750,315
Ensembl chrNW_004624828:6,710,025...6,749,434 		JBrowse link
G G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 6:1,901,669...1,951,352
Ensembl chr 6:1,901,507...1,951,314 		JBrowse link
G P AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		JBrowse link
G S Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chrNW_004936588:1,223,646...1,262,577
Ensembl chrNW_004936588:1,222,466...1,262,676 		JBrowse link
G D AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G B AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr19:1,110,419...1,161,826
Ensembl chr19:2,085,540...2,137,593 		JBrowse link
G C Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
G R Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 7:9,620,909...9,656,350
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G M Ap3d1 adaptor-related protein complex 3, delta 1 subunit ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G H AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468 		JBrowse link
G N Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chrNW_004624834:7,281,962...7,329,484
Ensembl chrNW_004624834:7,295,069...7,308,920 		JBrowse link
G G GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:8,178,818...8,223,291
Ensembl chr  X:8,179,154...8,222,603 		JBrowse link
G P GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:6,242,296...6,276,654
NCBI chr  Y:4,669,764...4,704,304 		JBrowse link
G S Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chrNW_004936644:196,344...236,659
Ensembl chrNW_004936644:196,263...235,305 		JBrowse link
G D GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:6,438,068...6,479,731
Ensembl chr  X:6,437,660...6,474,447 		JBrowse link
G B GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:2,357,835...2,398,389
Ensembl chr  X:9,609,598...9,650,075 		JBrowse link
G C Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chrNW_004955499:7,900,276...7,953,847
Ensembl chrNW_004955499:7,909,019...7,928,431 		JBrowse link
G R Gpr143 G protein-coupled receptor 143 ISO
ISS		 ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I
OMIM:300500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:25,498,601...25,523,408
Ensembl chr  X:22,002,914...22,027,715 		JBrowse link
G M Gpr143 G protein-coupled receptor 143 ISO
IAGP		 ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I
CTD Direct Evidence: marker/mechanism
OMIM:300500		 OMIM
ClinVar
CTD
MouseDO		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:151,564,917...151,591,647
Ensembl chr  X:151,564,917...151,591,642 		JBrowse link
G H GPR143 G protein-coupled receptor 143 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Ocular albinism, type I
ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I
OMIM:300500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:9,725,346...9,778,602
Ensembl chr  X:9,725,346...9,786,297 		JBrowse link
G H LURAP1L-AS1 LURAP1L antisense RNA 1 IAGP ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:12,699,999...12,814,389
Ensembl chr 9:12,631,434...12,814,382 		JBrowse link
G N Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chrNW_004624781:2,201,656...2,210,495
Ensembl chrNW_004624781:2,202,614...2,207,782 		JBrowse link
G G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr26:11,648,675...11,655,408
Ensembl chr26:11,648,758...11,654,850 		JBrowse link
G P NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 1:169,358,662...169,373,175
Ensembl chr 1:169,360,729...169,366,087 		JBrowse link
G S Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654 		JBrowse link
G D NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr30:35,375,181...35,382,398 JBrowse link
G B NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034 		JBrowse link
G C Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chrNW_004955450:5,281,707...5,286,260
Ensembl chrNW_004955450:5,281,707...5,286,260 		JBrowse link
G R Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G M Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 9:59,850,054...59,868,117
Ensembl chr 9:59,850,054...59,867,942 		JBrowse link
G H NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G N Slc24a5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chrNW_004624731:11,552,865...11,573,987
Ensembl chrNW_004624731:11,552,969...11,574,044 		JBrowse link
G G SLC24A5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chr26:35,143,004...35,164,134
Ensembl chr26:35,143,097...35,163,718 		JBrowse link
G P SLC24A5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
G S Slc24a5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chrNW_004936471:10,470,078...10,492,334
Ensembl chrNW_004936471:10,470,046...10,493,104 		JBrowse link
G D SLC24A5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chr30:14,372,019...14,400,262
Ensembl chr30:14,371,778...14,400,152 		JBrowse link
G B SLC24A5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chr15:27,069,937...27,091,619
Ensembl chr15:45,394,090...45,415,823 		JBrowse link
G C Slc24a5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chrNW_004955409:5,747,624...5,768,122
Ensembl chrNW_004955409:5,747,624...5,768,122 		JBrowse link
G R Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
G M Slc24a5 solute carrier family 24, member 5 IAGP OMIM:300500 MouseDO NCBI chr 2:124,910,076...124,930,316
Ensembl chr 2:124,910,044...124,930,597 		JBrowse link
G H SLC24A5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672 		JBrowse link
G N Tyr tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 NCBI chrNW_004624845:844,492...933,098
Ensembl chrNW_004624845:844,293...933,098 		JBrowse link
G G TYR tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 NCBI chr 1:80,330,051...80,444,646 JBrowse link
G P TYR tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G S Tyr tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
G D TYR tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G B TYR tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
G C Tyr tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001 		JBrowse link
G R Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism		 ClinVar
RGD		 PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 PMID:7704033 RGD:8694339 NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G M Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism		 ClinVar
RGD		 PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 PMID:7704033 RGD:8694339 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G H TYR tyrosinase IAGP DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism		 ClinVar
RGD		 PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 PMID:7704033 RGD:8694339 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
G N Tyrp1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624736:17,011,092...17,028,689
Ensembl chrNW_004624736:17,011,115...17,029,322 		JBrowse link
G G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr12:66,841,867...66,861,730
Ensembl chr12:66,842,926...66,859,842 		JBrowse link
G P TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,638...209,745,705 		JBrowse link
G S Tyrp1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936539:6,537,448...6,555,440
Ensembl chrNW_004936539:6,537,509...6,556,513 		JBrowse link
G D TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
G B TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:12,502,610...12,550,203
Ensembl chr 9:12,950,831...12,996,799 		JBrowse link
G C Tyrp1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955434:15,913,208...15,932,193
Ensembl chrNW_004955434:15,913,968...15,931,740 		JBrowse link
G R Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:100,327,111...100,345,657
Ensembl chr 5:95,280,982...95,299,516 		JBrowse link
G M Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956 		JBrowse link
G H TYRP1 tyrosinase related protein 1 IAGP ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:12,693,385...12,710,285
Ensembl chr 9:12,685,439...12,710,285 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Mitf melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chrNW_004624773:4,346,072...4,561,218
Ensembl chrNW_004624773:4,346,007...4,562,969 		JBrowse link
G G MITF melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168 		JBrowse link
G P MITF melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		JBrowse link
G S Mitf melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173 		JBrowse link
G D MITF melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G B MITF melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445 		JBrowse link
G C Mitf melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chrNW_004955421:17,948,117...18,157,379
Ensembl chrNW_004955421:17,947,277...18,154,090 		JBrowse link
G R Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G M Mitf melanogenesis associated transcription factor IAGP OMIM:103470 MouseDO NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G H MITF melanocyte inducing transcription factor ISS MouseDO NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G N Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944 		JBrowse link
G G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478 		JBrowse link
G P PAX3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011 		JBrowse link
G S Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815 		JBrowse link
G D PAX3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G B PAX3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G C Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006 		JBrowse link
G R Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G M Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G H PAX3 paired box 3 IAGP ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G N Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chrNW_004624845:844,492...933,098
Ensembl chrNW_004624845:844,293...933,098 		JBrowse link
G G TYR tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr 1:80,330,051...80,444,646 JBrowse link
G P TYR tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G S Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
G D TYR tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G B TYR tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
G C Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001 		JBrowse link
G R Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G M Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G H TYR tyrosinase IAGP ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        Hereditary Eye Diseases 11646
          Albinism 1121
            ocular albinism 1 81
              ocular albinism with sensorineural deafness 30
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
            skin disease 49602
              pigmentation disease 3140
                Hypopigmentation 1823
                  Albinism 1121
                    ocular albinism 1 81
                      ocular albinism with sensorineural deafness 30
paths to the root