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.
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Amacr
alpha-methylacyl-CoA racemase
ISO
ClinVar Annotator: match by term: Oculocutaneous albinism
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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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 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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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 chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Mitf
melanocyte inducing transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9158138
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Myef2
myelin expression factor 2
ISO
ClinVar Annotator: match by term: Oculocutaneous albinism
ClinVar
PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532
NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
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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 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Slc24a5
solute carrier family 24 member 5
ISO
ClinVar Annotator: match by term: Oculocutaneous albinism
ClinVar
PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532
NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231
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Slc45a2
solute carrier family 45, member 2
ISS ISO
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312 ClinVar Annotator: match by term: Oculocutaneous albinism
MouseDO ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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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 RGD
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:9259202 PMID:10094567 PMID:10766867 PMID:10987646 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:19626598 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:25333069 PMID:25741868 PMID:25919014 PMID:26165494 PMID:26167114 PMID:26818737 PMID:27537549 PMID:27734839 PMID:27775880 PMID:27829221 PMID:27887888 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:28976636 PMID:29345414 PMID:30311386 PMID:32411182 PMID:33223529 PMID:34008892 PMID:15760344 PMID:8197131 PMID:15250938 PMID:22294196 PMID:1642278 More...
RGD:1599687 , RGD:8694352 , RGD:8694345 , RGD:8694338 , RGD:1599686
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Tyrp1
tyrosinase-related protein 1
ISO
OCA3, OMIM:203290 ClinVar Annotator: match by term: Oculocutaneous albinism
ClinVar RGD
PMID:8651291
RGD:1599692
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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Oca2
OCA2 melanosomal transmembrane protein
ISO
DNA:deletion:exon:699_859del (human) ClinVar Annotator: match by term: Brown oculocutaneous albinism
ClinVar RGD
PMID:7920637 PMID:11179026 PMID:17767372 PMID:11179026
RGD:9491819
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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Arid4b
AT-rich interaction domain 4B
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,138,419...51,262,956
Ensembl chr17:51,138,535...51,262,906
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Coa6
cytochrome c oxidase assembly factor 6
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
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Edaradd
EDAR-associated death domain
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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Ero1b
endoplasmic reticulum oxidoreductase 1 beta
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398
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Ggps1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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Gng4
G protein subunit gamma 4
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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Gpr137b
G protein-coupled receptor 137B
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:86,003,630...86,041,841
Ensembl chr17:85,966,921...86,041,835
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Heatr1
HEAT repeat containing 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948
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Irf2bp2
interferon regulatory factor 2 binding protein 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642
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Lgals8
galectin 8
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,024,652...58,052,764
Ensembl chr17:58,028,105...58,052,764
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Lyst
lysosomal trafficking regulator
IAGP ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar OMIM RGD
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:15896657 PMID:16199547 PMID:17554367 PMID:17576681 PMID:18485661 PMID:21878672 PMID:23436631 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26915675 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30383631 PMID:30899265 PMID:31906877 PMID:10384041 More...
RGD:633300
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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Mt1m
metallothionein 1M
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr20:3,159,023...3,159,401
Ensembl chr 5:119,728,811...119,730,073 Ensembl chr19:119,728,811...119,730,073
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:86,085,046...86,158,277
Ensembl chr17:86,085,077...86,158,267
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Rbm34
RNA binding motif protein 34
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Tarbp1
TAR (HIV-1) RNA binding protein 1
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tomm20
translocase of outer mitochondrial membrane 20
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar
PMID:28492532
NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
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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 RGD
PMID:24033266 PMID:25741868 PMID:28492532 PMID:12125811 PMID:11056055 PMID:11861280 More...
RGD:1578409 , RGD:11087577 , RGD:11087576
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Bloc1s3
biogenesis of lysosomal organelles complex-1, subunit 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD ClinVar
PMID:25741868 PMID:31064749
NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
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Bloc1s4
biogenesis of lysosomal organelles complex 1 subunit 4
ISS
MouseDO
NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
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Bloc1s5
biogenesis of lysosomal organelles complex 1 subunit 5
ISS ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
MouseDO ClinVar
PMID:32565547
NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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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 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, alveolar macrophage (human)
RGD
PMID:19729668
RGD:4891476
NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
ClinVar
PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 PMID:31064749 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
RGD
PMID:25347450
RGD:11352293
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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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 RGD
PMID:24033266 PMID:12923531
RGD:11251756
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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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:16199547 PMID:17365864 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:23103514 PMID:24033266 PMID:25741868 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29941477 PMID:30387913 PMID:31064749 PMID:31141302 PMID:32581362 More...
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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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 RGD
PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30990103 PMID:31064749 PMID:31898847 PMID:32581362 PMID:11455388 More...
RGD:1599538
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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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 RGD
PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:12664304 PMID:11836498 PMID:23563589 More...
RGD:1599546 , RGD:11354897 , RGD:11353873
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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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 RGD
PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:28492532 PMID:28640947 PMID:31064749 PMID:15296495 More...
RGD:11072072
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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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 RGD
PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:31064749 PMID:12548288 PMID:19843503 More...
RGD:632833 , RGD:11073544
NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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Kxd1
KxDL motif containing 1
ISS
MouseDO
NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
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Rab38
RAB38, member RAS oncogene family
IAGP
RGD
PMID:19897744
RGD:2324690
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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Rab38ru
Rab38, member of RAS oncogene family, ruby allele
IAGP
RGD
PMID:19897744
RGD:2324690
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Rabggta
Rab geranylgeranyltransferase subunit alpha
ISS
MouseDO
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
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Slc7a11
solute carrier family 7 member 11
ISS
MouseDO
NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
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Vps33a
VPS33A core subunit of CORVET and HOPS complexes
ISS
MouseDO
NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISS
OMIM:203300
MouseDO
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Hps1
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
ISO
DNA:duplication:exon ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar OMIM RGD
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:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:21833017 PMID:24033266 PMID:25741868 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:31064749 PMID:31141302 PMID:32581362 PMID:8896559 More...
RGD:1625056
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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Rab27a
RAB27A, member RAS oncogene family
ISS
OMIM:203300
MouseDO
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10
OMIM ClinVar
PMID:25741868 PMID:26744459 PMID:28492532
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Bloc1s5
biogenesis of lysosomal organelles complex 1 subunit 5
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11
OMIM ClinVar
PMID:32565547
NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
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Ap3b1
adaptor related protein complex 3 subunit beta 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
OMIM ClinVar
PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 PMID:16199547 PMID:16507770 PMID:16537806 PMID:16551969 PMID:17576681 PMID:23265383 PMID:23403622 PMID:24033266 PMID:25741868 PMID:25980904 PMID:27781387 PMID:28492532 PMID:31898847 More...
NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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Ap3d1
adaptor related protein complex 3 subunit delta 1
ISS
OMIM:608233
MouseDO
NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar
PMID:11590544 PMID:28492532 PMID:32581362
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
ClinVar
PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30990103 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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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)
OMIM ClinVar RGD
PMID:11455388 PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:27593200 PMID:28492532 PMID:30990103 PMID:31898847 PMID:11590544 More...
RGD:11041885
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Hps1
HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis
ClinVar
PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532
NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
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Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
OMIM ClinVar
PMID:11836498 PMID:12664304 PMID:15108212 PMID:20158590 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
OMIM ClinVar
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 PMID:24033266 PMID:24698632 PMID:25741868 PMID:26785811 PMID:28296950 PMID:28492532 PMID:28640947 PMID:31064749 More...
NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
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Hps6
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
OMIM ClinVar
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 PMID:25741868 PMID:25949529 PMID:27225848 PMID:28492532 PMID:29345414 PMID:30369044 PMID:30387913 PMID:31064749 PMID:32581362 PMID:32725903 More...
NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
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Dtnbp1
dystrobrevin binding protein 1
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
OMIM ClinVar
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707
NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
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Bloc1s3
biogenesis of lysosomal organelles complex-1, subunit 3
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
OMIM ClinVar
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29345414 More...
NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
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Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:33543539 More...
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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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:20861488 PMID:22734612 PMID:23504663 PMID:23744323 PMID:24033266 PMID:24361966 PMID:25741868 PMID:27734839 PMID:28266639 PMID:28492532 PMID:31077556 More...
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Slc45a2
solute carrier family 45, member 2
ISO
ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism
ClinVar
PMID:25741868 PMID:28266639 PMID:28492532
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism
ClinVar
PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1943686 PMID:2342539 PMID:7902671 PMID:8128955 PMID:9163730 PMID:9242509 PMID:10987646 PMID:11284711 PMID:13680365 PMID:15381243 PMID:15635296 PMID:16056219 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20806075 PMID:20861488 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:23324268 PMID:23504663 PMID:24033266 PMID:24123366 PMID:24721949 PMID:25326635 PMID:25333069 PMID:25741868 PMID:25919014 PMID:26165494 PMID:27734839 PMID:27775880 PMID:27829221 PMID:28112372 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:29345414 PMID:33223529 PMID:34008892 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Tyrp1
tyrosinase-related protein 1
ISO
ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism
ClinVar
PMID:16704458 PMID:21739261 PMID:28266639 PMID:28492532
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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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:28492532 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Tyr
tyrosinase
treatment
ISO
ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism CTD Direct Evidence: marker/mechanism DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human) DNA:mutations:multiple: DNA:missense mutation:exon: p.I151S(human)
OMIM ClinVar CTD RGD
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 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:10987646 PMID:11284711 PMID:11295837 PMID:11781109 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:15635296 PMID:16056219 PMID:16170149 PMID:16199547 PMID:16417222 PMID:16517127 PMID:16570240 PMID:16907708 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:19626598 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:23242301 PMID:23324268 PMID:23504663 PMID:23882993 PMID:24033266 PMID:24123366 PMID:24461674 PMID:24721949 PMID:25216246 PMID:25326635 PMID:25333069 PMID:25703744 PMID:25741868 PMID:25919014 PMID:26165494 PMID:26167114 PMID:26818737 PMID:27537549 PMID:27734839 PMID:27775880 PMID:27829221 PMID:27887888 PMID:28041643 PMID:28112372 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:28976636 PMID:29345414 PMID:30311386 PMID:31077556 PMID:31199599 PMID:32411182 PMID:33223529 PMID:34008892 PMID:8996965 PMID:20447099 PMID:19436266 PMID:19436266 PMID:22088535 More...
RGD:8694340 , RGD:8694337 , RGD:8694335 , RGD:8694335 , RGD:8694334
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB | ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism
OMIM ClinVar
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1905879 PMID:1943686 PMID:1970634 PMID:2113511 PMID:2342539 PMID:5516239 PMID:7704033 PMID:7849740 PMID:8128955 PMID:8430701 PMID:8434585 PMID:9158138 PMID:9163730 PMID:9242509 PMID:9259202 PMID:10766867 PMID:10987646 PMID:11284711 PMID:11295837 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:16199547 PMID:16417222 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20861488 PMID:21541274 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22294196 PMID:22734612 PMID:23085273 PMID:23242301 PMID:23504663 PMID:23882993 PMID:24033266 PMID:24123366 PMID:24721949 PMID:25216246 PMID:25333069 PMID:25703744 PMID:25741868 PMID:25919014 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27887888 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:28976636 PMID:29345414 PMID:30311386 PMID:31077556 PMID:32411182 PMID:33223529 PMID:34008892 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Mc1r
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
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:28166811 PMID:28242083 PMID:28492532 More...
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Oca2
OCA2 melanosomal transmembrane protein
ISO
ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism 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 RGD
PMID:1773534 PMID:7762554 PMID:7874125 PMID:7920637 PMID:8302318 PMID:8980282 PMID:9259203 PMID:9536098 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:16199547 PMID:17160937 PMID:17236130 PMID:17568986 PMID:17576681 PMID:17767372 PMID:17960121 PMID:18252222 PMID:18326704 PMID:18463683 PMID:18821858 PMID:19060277 PMID:19865097 PMID:20019752 PMID:20301410 PMID:20426782 PMID:20806075 PMID:20861488 PMID:21085994 PMID:21458243 PMID:21541274 PMID:22734612 PMID:23010199 PMID:23103111 PMID:23504663 PMID:23744323 PMID:23824587 PMID:24033266 PMID:24118800 PMID:24361966 PMID:24845642 PMID:25060099 PMID:25412400 PMID:25455140 PMID:25513726 PMID:25741868 PMID:25809079 PMID:25919014 PMID:26165494 PMID:26474496 PMID:26818737 PMID:27231233 PMID:27468418 PMID:27734839 PMID:27887888 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28667292 PMID:28976636 PMID:29345414 PMID:29437493 PMID:30414346 PMID:31077556 PMID:31196117 PMID:31813138 PMID:12469324 PMID:22734612 PMID:20019752 PMID:7920637 More...
RGD:9491836 , RGD:9491830 , RGD:9491821 , RGD:9491820
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Tyrp1
tyrosinase-related protein 1
ISO
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
ClinVar
PMID:8651291 PMID:9345097 PMID:18680187 PMID:28492532
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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Tyrp1
tyrosinase-related protein 1
ISO
ClinVar Annotator: match by term: Oculocutaneous albinism type 3
OMIM ClinVar
PMID:8651291 PMID:9345097 PMID:15996218 PMID:16199547 PMID:16704458 PMID:18326704 PMID:18680187 PMID:18821858 PMID:19533799 PMID:21739261 PMID:23504663 PMID:23862152 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28266639 PMID:28492532 PMID:28976636 PMID:29345414 PMID:31233279 PMID:31719542 More...
NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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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 OMIM RGD
PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 PMID:15714523 PMID:16162179 PMID:16868655 PMID:17044855 PMID:21458243 PMID:23165166 PMID:24096233 PMID:24617981 PMID:24845642 PMID:25741868 PMID:26573111 PMID:26818737 PMID:27019209 PMID:27734839 PMID:28457509 PMID:28492532 PMID:28976636 PMID:29345414 PMID:30019506 PMID:14961451 More...
RGD:1599921
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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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 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
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Slc24a5
solute carrier family 24 member 5
ISO
ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI
OMIM ClinVar
PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832
NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231
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Lrmda
leucine rich melanocyte differentiation associated
ISO
ClinVar Annotator: match by term: Oculocutaneous albinism type 7
OMIM ClinVar
PMID:23395477 PMID:25741868 PMID:26818737 PMID:28492532
NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
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Dct
dopachrome tautomerase
ISO
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII
OMIM ClinVar
PMID:33100333 PMID:33959807
NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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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 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
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Slc24a5
solute carrier family 24 member 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4
CTD ClinVar
PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:31949055
NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231
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Mitf
melanocyte inducing transcription factor
ISO
ClinVar Annotator: match by term: Tietz syndrome
OMIM ClinVar
PMID:2440678 PMID:8659547 PMID:10851256 PMID:13985019 PMID:16199547 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:27153395 PMID:27349893 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28825054 PMID:29506128 PMID:29706638 PMID:30414346 PMID:31465090 PMID:32054529 PMID:33240314 More...
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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