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
Accession: DOID:9001386
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 .
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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
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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
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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
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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
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Tyrem1Kyo
tyrosinase; TALEN induced mutant1, Kyo
IMP
RGD
PMID:23409244
RGD:12792973
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247
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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 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
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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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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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
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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
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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
PMID:24033266 , PMID:12923531
RGD:11251756
NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
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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: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
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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
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
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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
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
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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
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
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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
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
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Kxd1
KxDL motif containing 1
ISS
MouseDO
NCBI chr16:20,652,863...20,666,581
Ensembl chr16:20,657,099...20,666,579
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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
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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 chr15:34,393,419...34,400,466
Ensembl chr15:34,393,233...34,400,449
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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
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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
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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
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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
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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 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
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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
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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
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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
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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
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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
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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:28492532 PMID:32581362
NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
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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
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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) 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
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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
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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
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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
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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
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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
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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: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
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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: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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
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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 chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
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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
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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
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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 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
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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
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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
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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
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
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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
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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
NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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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
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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
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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
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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
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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
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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
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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 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
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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 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561
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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
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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
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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
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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
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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
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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
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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 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561
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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
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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: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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
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
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