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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:Albinism
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Accession:DOID:9001386 term browser browse the term
Definition:General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Synonyms:primary_id: MESH:D000417;   RDO:0000397
 xref: NCI:C84543
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:33100333 NCBI chr15:103,208,174...103,245,033
Ensembl chr15:103,208,258...103,244,494 		JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:28041643 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:28041643 PMID:28976636 PMID:29345414 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433 		JBrowse link
G Tyr tyrosinase treatment ISO
IMP		 DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism		 ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:9158138 PMID:9163730 PMID:10766867 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19865097 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28629449 PMID:33223529, PMID:2567165, PMID:23409244, PMID:2112453 RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802 		JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291 PMID:9345097 PMID:25741868 PMID:28041643 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083 		JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:		 OMIM
ClinVar		 PMID:14230113 PMID:17525176 PMID:25741868 PMID:30718709, PMID:17525176 RGD:13782379 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206 		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:30383631 PMID:30899265, PMID:10384041 RGD:633300 NCBI chr17:90,323,055...90,522,091 JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 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: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:27889061 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532 		JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli disease ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 PMID:26684649 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by OMIM:214450		 OMIM
ClinVar		 PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624		 OMIM
ClinVar		 PMID:8319705 PMID:10835631 PMID:12058346 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25901543 PMID:26880764 PMID:27016801 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30697212 PMID:32860008 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar Annotator: match by OMIM:609227		 OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:25741868 NCBI chr 9:98,072,965...98,108,429
Ensembl chr 9:98,073,038...98,108,433 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598 PMID:12897212 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617 		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
ISO		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar		 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:9345105 PMID:9497254 PMID:9562579 PMID:9705234 PMID:12442288 PMID:14510955 PMID:15952982 PMID:16185271 PMID:17365864 PMID:19334085 PMID:19665357 PMID:20514622 PMID:20662851 PMID:24033266 PMID:25741868 PMID:26575419 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30387913 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:27593200 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 OMIM:203300		 ClinVar
OMIM		 PMID:8274781 PMID:8896559 PMID:9345105 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: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 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO OMIM NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247 		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 PMID:33223529 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
ocular albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISS OMIM:300500 MouseDO NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480 		JBrowse link
G Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism		 ClinVar
OMIM		 PMID:25741868, PMID:7704033 RGD:8694339 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: Ocular albinism ClinVar PMID:25741868 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083 		JBrowse link
Ocular Albinism Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Ocular albinism, type I
ClinVar Annotator: match by OMIM:300500		 OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 PMID:8634705 PMID:9529334 PMID:9887374 PMID:11520764 PMID:19610097 PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172 		JBrowse link
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: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:33223529, 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
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 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 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: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:33223529, 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 Tyr tyrosinase ISO ClinVar Annotator: match by term: Yellow albinism
ClinVar Annotator: match by term: Oculocutaneous albinism type 1B		 OMIM
ClinVar		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1820207 PMID:1832718 PMID:1903591 PMID:1970634 PMID:2113511 PMID:5516239 PMID:7704033 PMID:7849740 PMID:8128955 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:18326704 PMID:18463683 PMID:18488027 PMID:18488028 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:33223529 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:8980282 PMID:9259203 PMID:10649493 PMID:10671067 PMID:10905897 PMID:10987646 PMID:11179026 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:21541274 PMID:22734612 PMID:23103111 PMID:23504663 PMID:23744323 PMID:23824587 PMID:24033266 PMID:24118800 PMID:24361966 PMID:24845642 PMID:25060099 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:28976636 PMID:29345414 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 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:17044855 PMID:21458243 PMID:23165166 PMID:24617981 PMID:24845642 PMID:25741868 PMID:26818737 PMID:27019209 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
Oculocutaneous Albinism Type VIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII OMIM
ClinVar		 PMID:33100333 NCBI chr15:103,208,174...103,245,033
Ensembl chr15:103,208,258...103,244,494 		JBrowse link
piebaldism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18397875 RGD:12738207 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Partial albinism
ClinVar Annotator: match by term: Piebaldism
DNA:missense, frameshift mutations:cds:
ClinVar Annotator: match by OMIM:172800
ClinVar Annotator: match by term: Piebaldism with sensorineural deafness
ClinVar Annotator: match by term: Piebaldism, progressive		 ClinVar
OMIM		 PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 PMID:1720553 PMID:7529964 PMID:9450866 PMID:9699740 PMID:11074500 PMID:11174389 PMID:11380399 PMID:16081693 PMID:16307017 PMID:17065430 PMID:17525721 PMID:20140688 PMID:20205869 PMID:20339585 PMID:20890793 PMID:22703879 PMID:23020152 PMID:23593539 PMID:24205792 PMID:24728327 PMID:25079768 PMID:25176472 PMID:25637381 PMID:25741868 PMID:25975190 PMID:26158763 PMID:27023146 PMID:27214377 PMID:27258816 PMID:28492532 PMID:31775759, PMID:1717985, PMID:1370874 RGD:1600045, RGD:12910729 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610 		JBrowse link
G Snai2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Partial albinism
ClinVar Annotator: match by OMIM:172800		 ClinVar
OMIM		 PMID:12955764 PMID:24033266 PMID:28492532 PMID:30936914, PMID:12444107 RGD:1600041 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797 		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 16123
    sensory system disease 5245
      skin disease 2715
        Genetic Skin Diseases 893
          Albinism 47
            Albinism Deafness Syndrome 0
            Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
            COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
            Hermansky-Pudlak syndrome 1 4
            Microcephaly Albinism Digital Anomalies Syndrome 0
            ocular albinism + 9
            oculocutaneous albinism + 35
            piebaldism + 6
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          skin disease 2715
            pigmentation disease 217
              Hypopigmentation 105
                Albinism 47
                  Albinism Deafness Syndrome 0
                  Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                  COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                  Hermansky-Pudlak syndrome 1 4
                  Microcephaly Albinism Digital Anomalies Syndrome 0
                  ocular albinism + 9
                  oculocutaneous albinism + 35
                  piebaldism + 6
paths to the root