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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:oculocutaneous albinism
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Accession:DOID:0050632 term browser browse the term
Definition:A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO)
Synonyms:exact_synonym: tyrosinase-negative albinism;   tyrosinase-positive albinism;   yellow mutant albinism
 primary_id: MESH:D016115
 xref: GARD:10958;   OMIM:PS203100;   ORDO:55
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
oculocutaneous albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: RGD PMID:16185271 RGD:11354899 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532 		JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO
ISS		 ClinVar Annotator: match by term: Oculocutaneous albinism
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312		 ClinVar
MouseDO		 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO
ISS		 ClinVar Annotator: match by term: Oculocutaneous albinism
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312		 ClinVar
MouseDO		 NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398 		JBrowse link
G Tyr tyrosinase treatment IAGP
ISO		 DNA:missense mutation:exon:p.R299H (rat)
ClinVar Annotator: match by term: Oculocutaneous albinism
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.S128I(mouse)
DNA:mutations:multiple:
OCA1, OMIM:203100, OCA1B, OMIM:606952 		ClinVar
CTD		 PMID:666627, PMID:1429711, PMID:1642278, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1905879, PMID:1943686, PMID:1970634, PMID:2342539, PMID:2511845, PMID:5516239, PMID:7704033, PMID:7849740, PMID:7902671, PMID:8128955, PMID:8217557, PMID:8430701, PMID:8434585, PMID:9158138, PMID:9163730, PMID:9242509, PMID:10094567, PMID:10766867, PMID:11284711, PMID:11295837, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:15635296, PMID:16056219, PMID:16170149, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19533789, PMID:19865097, PMID:20806075, PMID:20861488, PMID:21541274, PMID:21906913, PMID:22042571, PMID:22294196, PMID:22734612, PMID:23085273, PMID:23324268, PMID:23504663, PMID:24033266, PMID:24123366, PMID:24721949, PMID:25216246, PMID:25741868, PMID:25919014, PMID:26165494, PMID:26167114, PMID:26818737, PMID:27537549, PMID:27775880, PMID:27829221, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28492532, PMID:28629449, PMID:30311386, PMID:15760344, PMID:8197131, PMID:15250938, PMID:22294196, PMID:1642278 RGD:1599687, RGD:8694352, RGD:8694345, RGD:8694338, RGD:1599686 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO OCA3, OMIM:203290
ClinVar Annotator: match by term: Oculocutaneous albinism		 ClinVar PMID:8651291 RGD:1599692 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083 		JBrowse link
Brown Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO DNA:deletion:exon:699_859del (human)
ClinVar Annotator: match by term: Brown oculocutaneous albinism		 ClinVar PMID:7920637, PMID:11179026, PMID:17767372, PMID:11179026 RGD:9491819 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433 		JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator IAGP
ISO		 ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by OMIM:214500		 ClinVar
OMIM		 PMID:8717042, PMID:8751863, PMID:8896560, PMID:9215679, PMID:9215680, PMID:10482950, PMID:10648412, PMID:11857544, PMID:17554367, PMID:18485661, PMID:21878672, PMID:24033266, PMID:24072239, PMID:24112114, PMID:25047945, PMID:25741868, PMID:26597256, PMID:27872624, PMID:28145517, PMID:28193763, PMID:28458669, PMID:28492532, PMID:30311386, PMID:30383631, PMID:30899265, PMID:10384041 RGD:633300 NCBI chr17:90,323,055...90,522,091 JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)		 ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:12125811, PMID:11056055, PMID:11861280 RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984 		JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868, PMID:31064749 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273 		JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:79,013,808...79,015,108
Ensembl chr14:79,013,807...79,015,112 		JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS MouseDO NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 PMID:21665000, PMID:22461475, PMID:26575419, PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 PMID:24033266, PMID:12923531 RGD:11251756 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781, PMID:8896559, PMID:9497254, PMID:9562579, PMID:9705234, PMID:12442288, PMID:14510955, PMID:15952982, PMID:16185271, PMID:17365864, PMID:20514622, PMID:20662851, PMID:24033266, PMID:25741868, PMID:26575419, PMID:26806224, PMID:28081892, PMID:28492532, PMID:29941477, PMID:30311386, PMID:31064749, PMID:32581362 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11590544, PMID:18414213, PMID:24033266, PMID:25525159, PMID:25741868, PMID:26575419, PMID:28492532, PMID:31064749, PMID:11455388 RGD:1599538 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)		 ClinVar
CTD		 PMID:24033266, PMID:25741868, PMID:26575419, PMID:28492532, PMID:12664304, PMID:11836498, PMID:23563589 RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:21833017, PMID:23607980, PMID:24698632, PMID:25741868, PMID:28640947, PMID:31064749, PMID:15296495 RGD:11072072 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430 		JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 ClinVar
CTD		 PMID:12548288, PMID:17041891, PMID:19843503, PMID:24033266, PMID:25741868, PMID:26575419, PMID:31064749, PMID:12548288, PMID:19843503 RGD:632833, RGD:11073544 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437 		JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:20,652,863...20,666,581
Ensembl chr16:20,657,099...20,666,579 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449 		JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:19897744 RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha ISS MouseDO NCBI chr15:34,393,419...34,400,466
Ensembl chr15:34,393,233...34,400,449 		JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:139,453,774...139,528,479
Ensembl chr 2:139,453,774...139,528,162 		JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:38,459,816...38,482,903
Ensembl chr12:38,459,832...38,484,512 		JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984 		JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 ClinVar PMID:23364359 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar Annotator: match by term: Delta storage pool disease
ClinVar Annotator: match by OMIM:203300		 ClinVar
OMIM		 PMID:8274781, PMID:8896559, PMID:9497254, PMID:9562579, PMID:9705234, PMID:10971344, PMID:12442288, PMID:14510955, PMID:15952982, PMID:16185271, PMID:17365864, PMID:18326704, PMID:19334085, PMID:20514622, PMID:20662851, PMID:21458243, PMID:24033266, PMID:25741868, PMID:26806224, PMID:27593200, PMID:28081892, PMID:28492532, PMID:29941477, PMID:30311386, PMID:31064749, PMID:32581362, PMID:8896559 RGD:1625056 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome 10 ClinVar
OMIM		 PMID:26744459 NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar Annotator: match by term: Hermansky Pudlak syndrome 2
ClinVar Annotator: match by OMIM:608233
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:8042664, PMID:10024875, PMID:11809908, PMID:14566336, PMID:16537806, PMID:16551969, PMID:24033266, PMID:25741868, PMID:25980904, PMID:28492532 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:608233 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532, PMID:32581362 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898 		JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3		 ClinVar PMID:11590544, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853 		JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
DNA:splice-site mutation:intron:1303+1G>A (human)
ClinVar Annotator: match by OMIM:614072		 OMIM
ClinVar		 PMID:11455388, PMID:11590544, PMID:18414213, PMID:24033266, PMID:25525159, PMID:25741868, PMID:27593200, PMID:28492532, PMID:11590544 RGD:11041885 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898 		JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
ClinVar Annotator: match by OMIM:614073		 OMIM
ClinVar		 PMID:11836498, PMID:12664304, PMID:15108212, PMID:20158590, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406 		JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
ClinVar Annotator: match by OMIM:614074		 OMIM
ClinVar		 PMID:12548288, PMID:15296495, PMID:21833017, PMID:22995991, PMID:23607980, PMID:24033266, PMID:24698632, PMID:25741868, PMID:28296950, PMID:28492532, PMID:28640947, PMID:31064749 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430 		JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
ClinVar Annotator: match by OMIM:614075		 OMIM
ClinVar		 PMID:12548288, PMID:17041891, PMID:19843503, PMID:20158590, PMID:24033266, PMID:25741868, PMID:25949529, PMID:27225848, PMID:28492532, PMID:31064749, PMID:32581362 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437 		JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
ClinVar Annotator: match by OMIM:614076		 OMIM
ClinVar		 PMID:12923531, PMID:23364359, PMID:25741868, PMID:28259707 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206 		JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
ClinVar Annotator: match by OMIM:614077		 OMIM
ClinVar		 PMID:16385460, PMID:22709368, PMID:29345414 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273 		JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar		 PMID:21665000, PMID:22461475, PMID:25741868, PMID:26575419, PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590 		JBrowse link
Nonsyndromic Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:8302318, PMID:10649493, PMID:12876664, PMID:18463683, PMID:20426782, PMID:22734612, PMID:24033266, PMID:25741868, PMID:28266639 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:28266639 NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:1429711, PMID:1642278, PMID:1899321, PMID:1943686, PMID:2342539, PMID:7902671, PMID:8128955, PMID:9163730, PMID:13680365, PMID:15381243, PMID:15635296, PMID:16056219, PMID:18326704, PMID:18463683, PMID:19060277, PMID:19865097, PMID:20806075, PMID:20861488, PMID:21985232, PMID:22042571, PMID:22294196, PMID:22734612, PMID:23324268, PMID:24033266, PMID:24721949, PMID:25326635, PMID:25741868, PMID:25919014, PMID:26165494, PMID:27829221, PMID:28266639, PMID:28451379, PMID:28492532, PMID:28629449 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:16704458, PMID:28266639 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083 		JBrowse link
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1832718, PMID:1900307, PMID:1943686, PMID:2567165, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
oculocutaneous albinism type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc glucose-6-phosphatase, catalytic subunit ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type IA ClinVar PMID:26167114, PMID:28492532 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213 		JBrowse link
G Tyr tyrosinase treatment ISO ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism
ClinVar Annotator: match by OMIM:203100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OCA1
DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human)
DNA:mutations:multiple:
DNA:missense mutation:exon: p.I151S(human)		 OMIM
ClinVar
CTD		 PMID:666627, PMID:1429711, PMID:1642278, PMID:1711223, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1905879, PMID:1943686, PMID:1970634, PMID:2113511, PMID:2342539, PMID:2511845, PMID:2903492, PMID:5516239, PMID:7704033, PMID:7849740, PMID:7902671, PMID:8128955, PMID:8217557, PMID:8430701, PMID:8434585, PMID:8477259, PMID:9158138, PMID:9163730, PMID:9242509, PMID:9259202, PMID:10766867, PMID:11284711, PMID:11295837, PMID:11781109, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:15635296, PMID:16056219, PMID:16170149, PMID:16570240, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19533789, PMID:19865097, PMID:20806075, PMID:20861488, PMID:21458243, PMID:21541274, PMID:21906913, PMID:21985232, PMID:22042571, PMID:22294196, PMID:22734612, PMID:22981120, PMID:23085273, PMID:23324268, PMID:23504663, PMID:24033266, PMID:24123366, PMID:24721949, PMID:25216246, PMID:25326635, PMID:25703744, PMID:25741868, PMID:25919014, PMID:26165494, PMID:26167114, PMID:26818737, PMID:27537549, PMID:27775880, PMID:27829221, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28492532, PMID:28629449, PMID:30311386, PMID:8996965, PMID:20447099, PMID:19436266, PMID:19436266, PMID:22088535 RGD:8694340, RGD:8694337, RGD:8694335, RGD:8694335, RGD:8694334 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
oculocutaneous albinism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc glucose-6-phosphatase, catalytic subunit ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB ClinVar PMID:26167114, PMID:28492532 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Yellow albinism
ClinVar Annotator: match by term: Oculocutaneous albinism type 1B
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB		 OMIM
ClinVar		 PMID:666627, PMID:1429711, PMID:1642278, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1970634, PMID:2113511, PMID:5516239, PMID:7704033, PMID:7849740, PMID:8434585, PMID:9158138, PMID:9163730, PMID:9242509, PMID:10766867, PMID:11284711, PMID:11295837, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19533789, PMID:19865097, PMID:20861488, PMID:21541274, PMID:21906913, PMID:22042571, PMID:22294196, PMID:22734612, PMID:23504663, PMID:24033266, PMID:24123366, PMID:24721949, PMID:25216246, PMID:25703744, PMID:25741868, PMID:25919014, PMID:26167114, PMID:26818737, PMID:27775880, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28629449, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
oculocutaneous albinism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF		 OMIM
ClinVar		 PMID:7581459, PMID:9032047, PMID:9571181, PMID:9665397, PMID:12839583, PMID:12876664, PMID:14961558, PMID:14975928, PMID:15221796, PMID:15994880, PMID:15998953, PMID:16463023, PMID:16567973, PMID:16601669, PMID:16809487, PMID:16982779, PMID:17616515, PMID:17952075, PMID:18067130, PMID:18366057, PMID:18402696, PMID:18983535, PMID:19194882, PMID:19269164, PMID:19320745, PMID:19338054, PMID:19585506, PMID:19799798, PMID:21128237, PMID:21749400, PMID:22095472, PMID:23522749, PMID:23647022, PMID:24033266, PMID:24335900, PMID:24439955, PMID:24982914, PMID:25284244, PMID:25631192, PMID:25741868, PMID:25794181, PMID:26103569, PMID:26197705, PMID:26389967, PMID:28242083, PMID:28492532 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
ClinVar Annotator: match by OMIM:203200
DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human)
DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human)
DNA:missense mutation:cds:p.G775D (human)
DNA:deletion:exon:699-?-859+?del (human)		 OMIM
ClinVar		 PMID:1773534, PMID:7762554, PMID:7874125, PMID:7920637, PMID:8302318, PMID:8421497, PMID:8980282, PMID:9259203, PMID:10094567, PMID:10649493, PMID:10671067, PMID:10905897, PMID:10987646, PMID:11179026, PMID:11310796, PMID:11464238, PMID:12163334, PMID:12469324, PMID:12687678, PMID:12713581, PMID:12876664, PMID:15173252, PMID:15712365, PMID:15889046, PMID:15942220, PMID:17236130, PMID:17568986, PMID:17767372, PMID:17960121, PMID:18252222, PMID:18326704, PMID:18463683, PMID:18821858, PMID:19060277, PMID:19865097, PMID:20301410, PMID:20426782, PMID:20806075, PMID:20861488, PMID:21085994, PMID:21292473, PMID:21541274, PMID:22734612, PMID:23103111, PMID:23504663, PMID:23744323, PMID:23824587, PMID:24033266, PMID:24118800, PMID:24361966, PMID:24845642, PMID:25060099, PMID:25093188, PMID:25513726, PMID:25741868, PMID:25809079, PMID:25919014, PMID:26165494, PMID:26474496, PMID:26818737, PMID:27231233, PMID:27468418, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28492532, PMID:30311386, PMID:30414346, PMID:12469324, PMID:22734612, PMID:20019752, PMID:7920637 RGD:9491836, RGD:9491830, RGD:9491821, RGD:9491820 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF ClinVar PMID:9345097, PMID:18680187 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083 		JBrowse link
oculocutaneous albinism type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 3
ClinVar Annotator: match by OMIM:203290		 OMIM
ClinVar		 PMID:8651291, PMID:9345097, PMID:15996218, PMID:16704458, PMID:18326704, PMID:18680187, PMID:18821858, PMID:19533799, PMID:23504663, PMID:23862152, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28266639, PMID:28492532 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083 		JBrowse link
oculocutaneous albinism type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV ClinVar PMID:25326637, PMID:25741868 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human)
ClinVar Annotator: match by term: Oculocutaneous albinism type 4
ClinVar Annotator: match by OMIM:606574		 ClinVar
OMIM		 PMID:11574907, PMID:14070830, PMID:14722913, PMID:14961451, PMID:15565285, PMID:15714523, PMID:16162179, PMID:16868655, PMID:16965274, PMID:17044855, PMID:18463683, PMID:19610114, PMID:19865097, PMID:21458243, PMID:23165166, PMID:24096233, PMID:24617981, PMID:24845642, PMID:25741868, PMID:26818737, PMID:27019209, PMID:27734839, PMID:28457509, PMID:28492532, PMID:14961451 RGD:1599921 NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398 		JBrowse link
oculocutaneous albinism type VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI ClinVar PMID:23364476, PMID:23985994, PMID:25741868, PMID:26491832 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE VI
ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI		 ClinVar
OMIM		 PMID:23364476, PMID:23985994, PMID:25741868, PMID:26491832 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480 		JBrowse link
oculocutaneous albinism type VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VII
ClinVar Annotator: match by OMIM:615179		 OMIM
ClinVar		 PMID:23395477, PMID:25741868, PMID:26818737, PMID:28492532 NCBI chr15:1,269,869...2,346,246 JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:23010199, PMID:25741868 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16357253, PMID:17999355, PMID:23010199, PMID:25741868, PMID:29025994 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Tietz syndrome OMIM
ClinVar		 PMID:2440678, PMID:8659547, PMID:10851256, PMID:13985019, PMID:20127975, PMID:22012259, PMID:22080950, PMID:22158021, PMID:23167872, PMID:23774529, PMID:23787126, PMID:23802662, PMID:24033266, PMID:24290354, PMID:24352080, PMID:24406078, PMID:24660985, PMID:24767713, PMID:25407435, PMID:25741868, PMID:25803691, PMID:25975176, PMID:26467025, PMID:26650189, PMID:26775776, PMID:26800492, PMID:26999813, PMID:27473757, PMID:27680874, PMID:28125078, PMID:28376192, PMID:28492532, PMID:29706638, PMID:30414346 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      oculocutaneous albinism 36
        Brown Oculocutaneous Albinism 1
        Congenital Deafness with Total Albinism 0
        Nonsyndromic Oculocutaneous Albinism + 10
        Pigmentary Dilution 0
        Syndromic Oculocutaneous Albinism + 24
        Tietz syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            pigmentation disease 244
              Hypopigmentation 103
                Albinism 48
                  oculocutaneous albinism 36
                    Brown Oculocutaneous Albinism 1
                    Congenital Deafness with Total Albinism 0
                    Nonsyndromic Oculocutaneous Albinism + 10
                    Pigmentary Dilution 0
                    Syndromic Oculocutaneous Albinism + 24
                    Tietz syndrome 1
paths to the root

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