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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
 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 chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:28041643 NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:12664304 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Tyr tyrosinase treatment ISO
IMP		 DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism		 ClinVar
RGD		 PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 More... RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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:16199547 PMID:25741868 PMID:28041643 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		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 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		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
RGD		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		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
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 		JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... RGD:633300 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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 OMIM
ClinVar		 PMID:27889061 PMID:30311386 PMID:34599368 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		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 syndrome ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		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 OMIM
ClinVar		 PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 More... NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12531900 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		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 OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:22711375 PMID:25741868 PMID:28492532 NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		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
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12125811 PMID:11056055 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		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:22461475 PMID:26575419 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G 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 		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
RGD		 PMID:24033266 PMID:12923531 RGD:11251756 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661 		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 More... NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268 		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
RGD		 PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... RGD:1599538 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		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
RGD		 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:12664304 More... RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		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
RGD		 PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:28492532 More... RGD:11072072 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		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
RGD		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... RGD:632833, RGD:11073544 NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883 		JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807 		JBrowse link
G 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 		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 chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Hermansky-Pudlak syndrome 1 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: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G 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 		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
OMIM
RGD		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 More... RGD:1625056 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268 		JBrowse link
G 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 		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 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 		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 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 		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 OMIM
ClinVar		 PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS
ISO		 OMIM:608233
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2		 MouseDO
ClinVar		 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		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:11590544 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		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 term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		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)		 OMIM
ClinVar
RGD		 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 More... RGD:11041885 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 More... NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		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 OMIM
ClinVar		 PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 More... NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		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 OMIM
ClinVar		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883 		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 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 		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 OMIM
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505 		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:22461475 PMID:25741868 PMID:26575419 PMID:28492532 PMID:33543539 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		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 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G 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 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1943686 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:16704458 PMID:21739261 PMID:25741868 PMID:28266639 PMID:28492532 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		JBrowse link
ocular albinism 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: Ocular albinism ClinVar PMID:25741868 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Gpr143 G protein-coupled receptor 143 ISS OMIM:300500 MouseDO NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
G Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism		 ClinVar
OMIM
RGD		 PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 More... RGD:8694339 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		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 OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715 		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 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1905879 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 PMID:25741868 PMID:28492532 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		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 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268 		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 chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		JBrowse link
G 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 		JBrowse link
G 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 		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 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G 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 		JBrowse link
G 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 		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
RGD		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1820207 PMID:1832718 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 		JBrowse link
G 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 		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 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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: 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 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 		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: 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 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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: 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:11933208 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G 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 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 		JBrowse link
G 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 		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 OMIM
ClinVar		 PMID:8651291 PMID:9345097 PMID:15996218 PMID:16199547 PMID:16704458 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		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
OMIM
RGD		 PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 More... RGD:1599921 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		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 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181 		JBrowse link
G 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 		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: 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 		JBrowse link
G 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 		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 PMID:33959807 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		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 chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Partial albinism | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive
DNA:missense, frameshift mutations:cds:		 ClinVar
OMIM
RGD		 PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 More... RGD:1600045, RGD:12910729 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Snai2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Partial albinism		 ClinVar
OMIM
RGD		 PMID:12955764 PMID:24033266 PMID:28492532 PMID:30936914 PMID:32975012 More... RGD:1600041 NCBI chr11:86,183,800...86,186,109
Ensembl chr11:86,181,909...86,186,200 		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 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181 		JBrowse link
G 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:29025994 NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231 		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:16199547 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      skin disease 3794
        Genetic Skin Diseases 1568
          Albinism 69
            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 + 11
            oculocutaneous albinism + 55
            piebaldism + 7
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        sensory system disease 6435
          skin disease 3794
            pigmentation disease 450
              Hypopigmentation 127
                Albinism 69
                  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 + 11
                  oculocutaneous albinism + 55
                  piebaldism + 7
paths to the root