Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Hypopigmentation
go back to main search page
Accession:DOID:9005660 term browser browse the term
Definition:A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
Synonyms:exact_synonym: Hypomelanoses;   Hypomelanosis
 primary_id: MESH:D017496;   RDO:0001250
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hypopigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222957 NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link
G Gli3 GLI family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18397875 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Mc1r melanocortin 1 receptor ISO DNA:missense mutations,insertions:cds:multiple RGD PMID:11030758 RGD:1600618 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon: L130P, A152P RGD PMID:12531900 RGD:1601587 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:
OMIM
ClinVar
PMID:14230113, PMID:17525176, PMID:25741868, PMID:30311386, PMID:30718709, PMID:17525176 RGD:13782379 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532, PMID:30718709 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
Albinism 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: Albinism ClinVar PMID:8634705, PMID:28041643 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:9497254, PMID:9705234, PMID:15952982, PMID:17365864, PMID:20514622, PMID:25741868, PMID:26806224, PMID:28081892, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8421497, PMID:10094567, PMID:11310796, PMID:11464238, PMID:12469324, PMID:15712365, PMID:15889046, PMID:19060277, PMID:21085994, PMID:21292473, PMID:23504663, PMID:23824587, PMID:25093188, PMID:25741868, PMID:26818737, PMID:28041643, PMID:30311386 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Tyr tyrosinase treatment ISO
IMP
DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism
ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1970634, PMID:2903492, PMID:7704033, PMID:7849740, PMID:9158138, PMID:9163730, PMID:10766867, PMID:11284711, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID: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:30311386, PMID:2567165, PMID:23409244, PMID:2112453 RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291, PMID:9345097, PMID:25741868, PMID:28041643 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
Brown Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO DNA:deletion:exon:699_859del (human)
ClinVar Annotator: match by term: Brown oculocutaneous albinism
ClinVar PMID:7920637, PMID:11179026, PMID:17767372, PMID:11179026 RGD:9491819 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator IAGP
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by OMIM:214500
ClinVar
OMIM
PMID:8717042, PMID:8751863, PMID:8896560, PMID:9215679, PMID:9215680, PMID:10482950, PMID:10648412, PMID:11857544, PMID:17554367, PMID:18485661, PMID:21878672, PMID:24033266, PMID:24072239, PMID:24112114, PMID:25047945, PMID:25741868, PMID:26597256, PMID:27872624, PMID:28145517, PMID:28193763, PMID:28458669, PMID:28492532, PMID:30311386, PMID:30383631, PMID:30899265, PMID:10384041 RGD:633300 NCBI chr17:90,323,055...90,522,091 JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by OMIM:615522 OMIM
ClinVar
PMID:19380683, PMID:24075184 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM
PMID:27889061 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli disease ClinVar PMID:10835631, PMID:16551969, PMID:18350256, PMID:19953648, PMID:24033266, PMID:26684649 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by OMIM:214450
OMIM
ClinVar
PMID:9207796, PMID:10704277, PMID:12058346, PMID:25326635, PMID:25741868 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624
OMIM
ClinVar
PMID:8319705, PMID:10835631, PMID:12058346, PMID:12531900, PMID:12648328, PMID:15163896, PMID:15475639, PMID:16278825, PMID:18397837, PMID:19030707, PMID:19953648, PMID:23160464, PMID:24033266, PMID:25071262, PMID:25312756, PMID:25500851, PMID:25544030, PMID:25741868, PMID:25901543, PMID:26880764, PMID:27016801, PMID:28492532, PMID:29357941, PMID:29522846, PMID:30697212, PMID:32860008 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar Annotator: match by OMIM:609227
OMIM
ClinVar
PMID:12148598, PMID:12897212 NCBI chr 9:98,072,965...98,108,429
Ensembl chr 9:98,073,038...98,108,433
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598, PMID:12897212 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO OMIM NCBI chr13:49,195,325...49,243,327
Ensembl chr13:49,195,325...49,243,316
JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
DNA:duplication, deletions:introns, exons: (mouse)
ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:12125811, PMID:11056055, PMID:11861280 RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:31064749 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:79,013,808...79,015,108
Ensembl chr14:79,013,807...79,015,112
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS MouseDO NCBI chr17:26,808,193...26,833,257
Ensembl chr17:26,808,330...26,833,247
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:21665000, PMID:22461475, PMID:26575419, PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31064749 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:24033266, PMID:12923531 RGD:11251756 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781, PMID:8896559, PMID:9497254, PMID:9562579, PMID:9705234, PMID:12442288, PMID:14510955, PMID:15952982, PMID:16185271, PMID:17365864, PMID:20514622, PMID:20662851, PMID:24033266, PMID:25741868, PMID:26575419, PMID:26806224, PMID:28081892, PMID:28492532, PMID:29941477, PMID:30311386, PMID:31064749, PMID:32581362 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11590544, PMID:18414213, PMID:24033266, PMID:25525159, PMID:25741868, PMID:26575419, PMID:28492532, PMID:31064749, PMID:11455388 RGD:1599538 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)
ClinVar
CTD
PMID:24033266, PMID:25741868, PMID:26575419, PMID:28492532, PMID:12664304, PMID:11836498, PMID:23563589 RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21833017, PMID:23607980, PMID:24698632, PMID:25741868, PMID:28640947, PMID:31064749, PMID:15296495 RGD:11072072 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
CTD
PMID:12548288, PMID:17041891, PMID:19843503, PMID:24033266, PMID:25741868, PMID:26575419, PMID:31064749, PMID:12548288, PMID:19843503 RGD:632833, RGD:11073544 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
G Kxd1 KxDL motif containing 1 ISS MouseDO NCBI chr16:20,652,863...20,666,581
Ensembl chr16:20,657,099...20,666,579
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:19897744 RGD:2324690 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
JBrowse link
G Rab38ru Rab38, member of RAS oncogene family, ruby allele IAGP RGD PMID:19897744 RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha ISS MouseDO NCBI chr15:34,393,419...34,400,466
Ensembl chr15:34,393,233...34,400,449
JBrowse link
G Slc7a11 solute carrier family 7 member 11 ISS MouseDO NCBI chr 2:139,453,774...139,528,479
Ensembl chr 2:139,453,774...139,528,162
JBrowse link
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISS MouseDO NCBI chr12:38,459,816...38,482,903
Ensembl chr12:38,459,832...38,484,512
JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:203300 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 ClinVar PMID:23364359 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar Annotator: match by term: Delta storage pool disease
ClinVar Annotator: match by OMIM:203300
ClinVar
OMIM
PMID:8274781, PMID:8896559, PMID:9497254, PMID:9562579, PMID:9705234, PMID:10971344, PMID:12442288, PMID:14510955, PMID:15952982, PMID:16185271, PMID:17365864, PMID:18326704, PMID:19334085, PMID:20514622, PMID:20662851, PMID:21458243, PMID:24033266, PMID:25741868, PMID:26806224, PMID:27593200, PMID:28081892, PMID:28492532, PMID:29941477, PMID:30311386, PMID:31064749, PMID:32581362, PMID:8896559 RGD:1625056 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome 10 ClinVar
OMIM
PMID:26744459 NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar Annotator: match by term: Hermansky Pudlak syndrome 2
ClinVar Annotator: match by OMIM:608233
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8042664, PMID:10024875, PMID:11809908, PMID:14566336, PMID:16537806, PMID:16551969, PMID:24033266, PMID:25741868, PMID:25980904, PMID:28492532 NCBI chr 2:24,022,815...24,227,522
Ensembl chr 2:24,024,791...24,226,224
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISS OMIM:608233 MouseDO NCBI chr 7:11,838,639...11,873,992
Ensembl chr 7:11,838,639...11,873,984
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532, PMID:32581362 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
ClinVar PMID:11590544, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
DNA:splice-site mutation:intron:1303+1G>A (human)
ClinVar Annotator: match by OMIM:614072
OMIM
ClinVar
PMID:11455388, PMID:11590544, PMID:18414213, PMID:24033266, PMID:25525159, PMID:25741868, PMID:27593200, PMID:28492532, PMID:11590544 RGD:11041885 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
ClinVar Annotator: match by OMIM:614073
OMIM
ClinVar
PMID:11836498, PMID:12664304, PMID:15108212, PMID:20158590, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
ClinVar Annotator: match by OMIM:614074
OMIM
ClinVar
PMID:12548288, PMID:15296495, PMID:21833017, PMID:22995991, PMID:23607980, PMID:24033266, PMID:24698632, PMID:25741868, PMID:28296950, PMID:28492532, PMID:28640947, PMID:31064749 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430
JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
ClinVar Annotator: match by OMIM:614075
OMIM
ClinVar
PMID:12548288, PMID:17041891, PMID:19843503, PMID:20158590, PMID:24033266, PMID:25741868, PMID:25949529, PMID:27225848, PMID:28492532, PMID:31064749, PMID:32581362 NCBI chr 1:265,761,818...265,764,427
Ensembl chr 1:265,761,738...265,764,437
JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
ClinVar Annotator: match by OMIM:614076
OMIM
ClinVar
PMID:12923531, PMID:23364359, PMID:25741868, PMID:28259707 NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
ClinVar Annotator: match by OMIM:614077
OMIM
ClinVar
PMID:16385460, PMID:22709368, PMID:29345414 NCBI chr 1:80,414,766...80,417,385
Ensembl chr 1:80,415,686...80,416,273
JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar
PMID:21665000, PMID:22461475, PMID:25741868, PMID:26575419, PMID:28492532 NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
JBrowse link
hypomelanosis of Ito term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:8169255, PMID:9450877, PMID:10839543, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:18350553, PMID:20412081, PMID:20499091, PMID:25741868, PMID:27368913, PMID:30422821, PMID:31965418 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT OMIM
ClinVar
PMID:31155284 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
Leukonychia Totalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by OMIM:151600 ClinVar PMID:21665001 NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcd1 phospholipase C, delta 1 ISO OMIM NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
Nonsyndromic Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:8302318, PMID:10649493, PMID:12876664, PMID:18463683, PMID:20426782, PMID:22734612, PMID:24033266, PMID:25741868, PMID:28266639 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:28266639 NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:1429711, PMID:1642278, PMID:1899321, PMID:1943686, PMID:2342539, PMID:7902671, PMID:8128955, PMID:9163730, PMID:13680365, PMID:15381243, PMID:15635296, PMID:16056219, PMID:18326704, PMID:18463683, PMID:19060277, PMID:19865097, PMID:20806075, PMID:20861488, PMID:21985232, PMID:22042571, PMID:22294196, PMID:22734612, PMID:23324268, PMID:24033266, PMID:24721949, PMID:25326635, PMID:25741868, PMID:25919014, PMID:26165494, PMID:27829221, PMID:28266639, PMID:28451379, PMID:28492532, PMID:28629449 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:16704458, PMID:28266639 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
ocular albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISS OMIM:300500 MouseDO NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:9497254, PMID:9705234, PMID:15952982, PMID:17365864, PMID:20514622, PMID:25741868, PMID:26806224, PMID:28081892, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480
JBrowse link
G Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism
ClinVar
OMIM
PMID:666627, PMID:1429711, PMID:1820207, PMID:1899321, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386, PMID:7704033 RGD:8694339 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
Ocular Albinism Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Ocular albinism, type I
ClinVar Annotator: match by OMIM:300500
OMIM
ClinVar
PMID:1427786, PMID:1652548, PMID:5125647, PMID:7647783, PMID:8400292, PMID:8634705, PMID:9529334, PMID:9887374, PMID:11520764, PMID:19610097, PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711, PMID:1642278, PMID:1903591, PMID:1970634, PMID:5516239, PMID:9242509, PMID:11284711, PMID:12753405, PMID:13680365, PMID:15146472, PMID:18463683, PMID:18590551, PMID:18821858, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19865097, PMID:20861488, PMID:21906913, PMID:22734612, PMID:23504663, PMID:24033266, PMID:24123366, PMID:25216246, PMID:25741868, PMID:26167114, PMID:26818737, PMID:27775880, PMID:27887888, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
oculocutaneous albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: RGD PMID:16185271 RGD:11354899 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO
ISS
ClinVar Annotator: match by term: Oculocutaneous albinism
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312
ClinVar
MouseDO
NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO
ISS
ClinVar Annotator: match by term: Oculocutaneous albinism
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312
ClinVar
MouseDO
NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
JBrowse link
G Tyr tyrosinase treatment IAGP
ISO
DNA:missense mutation:exon:p.R299H (rat)
ClinVar Annotator: match by term: Oculocutaneous albinism
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.S128I(mouse)
DNA:mutations:multiple:
OCA1, OMIM:203100, OCA1B, OMIM:606952
ClinVar
CTD
PMID:666627, PMID:1429711, PMID:1642278, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1905879, PMID:1943686, PMID:1970634, PMID:2342539, PMID:2511845, PMID:5516239, PMID:7704033, PMID:7849740, PMID:7902671, PMID:8128955, PMID:8217557, PMID:8430701, PMID:8434585, PMID:9158138, PMID:9163730, PMID:9242509, PMID:10094567, PMID:10766867, PMID:11284711, PMID:11295837, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:15635296, PMID:16056219, PMID:16170149, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19533789, PMID:19865097, PMID:20806075, PMID:20861488, PMID:21541274, PMID:21906913, PMID:22042571, PMID:22294196, PMID:22734612, PMID:23085273, PMID:23324268, PMID:23504663, PMID:24033266, PMID:24123366, PMID:24721949, PMID:25216246, PMID:25741868, PMID:25919014, PMID:26165494, PMID:26167114, PMID:26818737, PMID:27537549, PMID:27775880, PMID:27829221, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28492532, PMID:28629449, PMID:30311386, PMID:15760344, PMID:8197131, PMID:15250938, PMID:22294196, PMID:1642278 RGD:1599687, RGD:8694352, RGD:8694345, RGD:8694338, RGD:1599686 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO OCA3, OMIM:203290
ClinVar Annotator: match by term: Oculocutaneous albinism
ClinVar PMID:8651291 RGD:1599692 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1832718, PMID:1900307, PMID:1943686, PMID:2567165, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
oculocutaneous albinism type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc glucose-6-phosphatase, catalytic subunit ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type IA ClinVar PMID:26167114, PMID:28492532 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Tyr tyrosinase treatment ISO ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism
ClinVar Annotator: match by OMIM:203100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OCA1
DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human)
DNA:mutations:multiple:
DNA:missense mutation:exon: p.I151S(human)
OMIM
ClinVar
CTD
PMID:666627, PMID:1429711, PMID:1642278, PMID:1711223, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1905879, PMID:1943686, PMID:1970634, PMID:2113511, PMID:2342539, PMID:2511845, PMID:2903492, PMID:5516239, PMID:7704033, PMID:7849740, PMID:7902671, PMID:8128955, PMID:8217557, PMID:8430701, PMID:8434585, PMID:8477259, PMID:9158138, PMID:9163730, PMID:9242509, PMID:9259202, PMID:10766867, PMID:11284711, PMID:11295837, PMID:11781109, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:15635296, PMID:16056219, PMID:16170149, PMID:16570240, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19533789, PMID:19865097, PMID:20806075, PMID:20861488, PMID:21458243, PMID:21541274, PMID:21906913, PMID:21985232, PMID:22042571, PMID:22294196, PMID:22734612, PMID:22981120, PMID:23085273, PMID:23324268, PMID:23504663, PMID:24033266, PMID:24123366, PMID:24721949, PMID:25216246, PMID:25326635, PMID:25703744, PMID:25741868, PMID:25919014, PMID:26165494, PMID:26167114, PMID:26818737, PMID:27537549, PMID:27775880, PMID:27829221, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28492532, PMID:28629449, PMID:30311386, PMID:8996965, PMID:20447099, PMID:19436266, PMID:19436266, PMID:22088535 RGD:8694340, RGD:8694337, RGD:8694335, RGD:8694335, RGD:8694334 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
oculocutaneous albinism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc glucose-6-phosphatase, catalytic subunit ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB ClinVar PMID:26167114, PMID:28492532 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Yellow albinism
ClinVar Annotator: match by term: Oculocutaneous albinism type 1B
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB
OMIM
ClinVar
PMID:666627, PMID:1429711, PMID:1642278, PMID:1820207, PMID:1832718, PMID:1899321, PMID:1903591, PMID:1970634, PMID:2113511, PMID:5516239, PMID:7704033, PMID:7849740, PMID:8434585, PMID:9158138, PMID:9163730, PMID:9242509, PMID:10766867, PMID:11284711, PMID:11295837, PMID:12753405, PMID:13680365, PMID:15146472, PMID:15381243, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18463683, PMID:18488027, PMID:18488028, PMID:18590551, PMID:18821858, PMID:18925668, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19533789, PMID:19865097, PMID:20861488, PMID:21541274, PMID:21906913, PMID:22042571, PMID:22294196, PMID:22734612, PMID:23504663, PMID:24033266, PMID:24123366, PMID:24721949, PMID:25216246, PMID:25703744, PMID:25741868, PMID:25919014, PMID:26167114, PMID:26818737, PMID:27775880, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28629449, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
oculocutaneous albinism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF
OMIM
ClinVar
PMID:7581459, PMID:9032047, PMID:9571181, PMID:9665397, PMID:12839583, PMID:12876664, PMID:14961558, PMID:14975928, PMID:15221796, PMID:15994880, PMID:15998953, PMID:16463023, PMID:16567973, PMID:16601669, PMID:16809487, PMID:16982779, PMID:17616515, PMID:17952075, PMID:18067130, PMID:18366057, PMID:18402696, PMID:18983535, PMID:19194882, PMID:19269164, PMID:19320745, PMID:19338054, PMID:19585506, PMID:19799798, PMID:21128237, PMID:21749400, PMID:22095472, PMID:23522749, PMID:23647022, PMID:24033266, PMID:24335900, PMID:24439955, PMID:24982914, PMID:25284244, PMID:25631192, PMID:25741868, PMID:25794181, PMID:26103569, PMID:26197705, PMID:26389967, PMID:28242083, PMID:28492532 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
ClinVar Annotator: match by OMIM:203200
DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human)
DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human)
DNA:missense mutation:cds:p.G775D (human)
DNA:deletion:exon:699-?-859+?del (human)
OMIM
ClinVar
PMID:1773534, PMID:7762554, PMID:7874125, PMID:7920637, PMID:8302318, PMID:8421497, PMID:8980282, PMID:9259203, PMID:10094567, PMID:10649493, PMID:10671067, PMID:10905897, PMID:10987646, PMID:11179026, PMID:11310796, PMID:11464238, PMID:12163334, PMID:12469324, PMID:12687678, PMID:12713581, PMID:12876664, PMID:15173252, PMID:15712365, PMID:15889046, PMID:15942220, PMID:17236130, PMID:17568986, PMID:17767372, PMID:17960121, PMID:18252222, PMID:18326704, PMID:18463683, PMID:18821858, PMID:19060277, PMID:19865097, PMID:20301410, PMID:20426782, PMID:20806075, PMID:20861488, PMID:21085994, PMID:21292473, PMID:21541274, PMID:22734612, PMID:23103111, PMID:23504663, PMID:23744323, PMID:23824587, PMID:24033266, PMID:24118800, PMID:24361966, PMID:24845642, PMID:25060099, PMID:25093188, PMID:25513726, PMID:25741868, PMID:25809079, PMID:25919014, PMID:26165494, PMID:26474496, PMID:26818737, PMID:27231233, PMID:27468418, PMID:27887888, PMID:28041643, PMID:28266639, PMID:28451379, PMID:28492532, PMID:30311386, PMID:30414346, PMID:12469324, PMID:22734612, PMID:20019752, PMID:7920637 RGD:9491836, RGD:9491830, RGD:9491821, RGD:9491820 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF ClinVar PMID:9345097, PMID:18680187 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
oculocutaneous albinism type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 3
ClinVar Annotator: match by OMIM:203290
OMIM
ClinVar
PMID:8651291, PMID:9345097, PMID:15996218, PMID:16704458, PMID:18326704, PMID:18680187, PMID:18821858, PMID:19533799, PMID:23504663, PMID:23862152, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28266639, PMID:28492532 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
oculocutaneous albinism type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV ClinVar PMID:25326637, PMID:25741868 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human)
ClinVar Annotator: match by term: Oculocutaneous albinism type 4
ClinVar Annotator: match by OMIM:606574
ClinVar
OMIM
PMID:11574907, PMID:14070830, PMID:14722913, PMID:14961451, PMID:15565285, PMID:15714523, PMID:16162179, PMID:16868655, PMID:16965274, PMID:17044855, PMID:18463683, PMID:19610114, PMID:19865097, PMID:21458243, PMID:23165166, PMID:24096233, PMID:24617981, PMID:24845642, PMID:25741868, PMID:26818737, PMID:27019209, PMID:27734839, PMID:28457509, PMID:28492532, PMID:14961451 RGD:1599921 NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
JBrowse link
oculocutaneous albinism type VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI ClinVar PMID:23364476, PMID:23985994, PMID:25741868, PMID:26491832 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE VI
ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI
ClinVar
OMIM
PMID:23364476, PMID:23985994, PMID:25741868, PMID:26491832 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480
JBrowse link
oculocutaneous albinism type VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VII
ClinVar Annotator: match by OMIM:615179
OMIM
ClinVar
PMID:23395477, PMID:25741868, PMID:26818737, PMID:28492532 NCBI chr15:1,269,869...2,346,246 JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by OMIM:616295 ClinVar
OMIM
PMID:3527073, PMID:25683118 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ClinVar PMID:3527073, PMID:25683118 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
piebaldism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18397875 RGD:12738207 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Partial albinism
ClinVar Annotator: match by term: Piebaldism
DNA:missense, frameshift mutations:cds:
ClinVar Annotator: match by OMIM:172800
ClinVar Annotator: match by term: Piebaldism with sensorineural deafness
ClinVar Annotator: match by term: Piebaldism, progressive
ClinVar
OMIM
PMID:338655, PMID:1370874, PMID:1376329, PMID:1384325, PMID:1717985, PMID:1720553, PMID:7529964, PMID:9450866, PMID:9699740, PMID:11074500, PMID:11174389, PMID:11380399, PMID:16081693, PMID:16307017, PMID:17065430, PMID:17525721, PMID:20140688, PMID:20205869, PMID:20339585, PMID:20890793, PMID:22703879, PMID:23020152, PMID:23593539, PMID:24205792, PMID:24728327, PMID:25079768, PMID:25176472, PMID:25637381, PMID:25741868, PMID:25975190, PMID:26158763, PMID:27023146, PMID:27214377, PMID:27258816, PMID:28492532, PMID:31775759, PMID:1717985, PMID:1370874 RGD:1600045, RGD:12910729 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Snai2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Partial albinism
ClinVar Annotator: match by OMIM:172800
ClinVar
OMIM
PMID:12955764, PMID:24033266, PMID:28492532, PMID:30936914, PMID:12444107 RGD:1600041 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:23010199, PMID:25741868 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16357253, PMID:17999355, PMID:23010199, PMID:25741868, PMID:29025994 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480
JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Tietz syndrome OMIM
ClinVar
PMID:2440678, PMID:8659547, PMID:10851256, PMID:13985019, PMID:20127975, PMID:22012259, PMID:22080950, PMID:22158021, PMID:23167872, PMID:23774529, PMID:23787126, PMID:23802662, PMID:24033266, PMID:24290354, PMID:24352080, PMID:24406078, PMID:24660985, PMID:24767713, PMID:25407435, PMID:25741868, PMID:25803691, PMID:25975176, PMID:26467025, PMID:26650189, PMID:26775776, PMID:26800492, PMID:26999813, PMID:27473757, PMID:27680874, PMID:28125078, PMID:28376192, PMID:28492532, PMID:29706638, PMID:30414346 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
vitiligo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C4a complement C4A ISO associated with Graves Disease RGD PMID:21943165 RGD:5688264 NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141
JBrowse link
G Casp7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
JBrowse link
G Cat catalase susceptibility
no_association
ISO DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)
protein:decreased activity:skin:
DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)
RGD PMID:20613769, PMID:19439879, PMID:23868633 RGD:9479149, RGD:9479169, RGD:9479150 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Clnk cytokine-dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr14:76,657,165...76,834,050
Ensembl chr14:76,657,311...76,833,161
JBrowse link
G Clu clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Comt catechol-O-methyltransferase no_association ISO DNA:polymorphism: :p.V158M (human) RGD PMID:19112571, PMID:24915010 RGD:8662333, RGD:8662336 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility
no_association
ISO associated with Autoimmune Diseases;DNA:polymorphisms: :
DNA:SNP:exon:+49A>G rs231775)(human)
DNA:SNPs:multiple:
DNA:SNP:3'UTR:rs3087243(human)
RGD PMID:15649153, PMID:19129082, PMID:18200060, PMID:21794098 RGD:7411687, RGD:7411699, RGD:7411697, RGD:7411696 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Esr1 estrogen receptor 1 susceptibility
no_association
ISO DNA:SNP:intron
DNA:SNP:exon
RGD PMID:15381239, PMID:15381239 RGD:8552976, RGD:8552976 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Foxd3 forkhead box D3 susceptibility ISO ClinVar Annotator: match by OMIM:607836
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16098053 NCBI chr 5:118,346,283...118,349,120 JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A treatment ISO RGD PMID:23447019 RGD:8662840 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Ifng interferon gamma susceptibility
onset
ISO DNA:repeats:intron:rs3138557(human)
DNA:polymorphism:intron:rs2430561(human)
RGD PMID:23777204, PMID:23777204 RGD:8157616, RGD:8157616 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:3,061,422...3,098,142
Ensembl chr 7:3,061,469...3,074,359
JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD PMID:28836394, PMID:16911396 RGD:7794736 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
no_association
ISO DNA:polymorphism:exon:
DNA:polymorphisms:promoter, exon:
RGD PMID:17337399, PMID:19416237 RGD:8693723, RGD:8693724 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A susceptibility ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17377159 NCBI chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp : cds: rs2476601
DNA:polymorphism: :1858C>T (p.R620W) (human)
RGD PMID:16015369, PMID:18426414 RGD:6484552, RGD:7829737 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:: HLA-DQA1*0302, HLA-DQA1*0601, HLA-DQA1*0501; RGD PMID:16409268 RGD:8547566 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:HLA-DQB1*0201(human)
RGD PMID:16420246, PMID:9653015 RGD:5147644, RGD:36174006 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism: : HLA-DRB1*0701(human)
RGD PMID:16420246, PMID:9653015 RGD:5147644, RGD:36174006 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Sla src-like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:107,585,055...107,604,950
Ensembl chr 7:107,584,118...107,634,335
JBrowse link
G Sod2 superoxide dismutase 2 disease_progression ISO DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) RGD PMID:24036105 RGD:8547522 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD PMID:28836394, PMID:16911396 RGD:7794736 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:123,079,520...123,088,240
Ensembl chr 7:123,079,537...123,088,279
JBrowse link
G Tyr tyrosinase severity ISO RGD PMID:22834951, PMID:8697641 RGD:8694387, RGD:8694409 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:exon:rs2228570 (human)
DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)
RGD PMID:22738935, PMID:22762534, PMID:22762534 RGD:8158061, RGD:8158066, RGD:8158066 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        pigmentation disease 244
          Hypopigmentation 103
            Albinism + 48
            Cole Disease 1
            External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 0
            HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
            Hernandez Fragoso Syndrome 0
            Leukonychia Totalis + 3
            Raindrop Hypopigmentation 0
            Yemenite Deaf-Blind Hypopigmentation Syndrome 0
            hypomelanosis of Ito 2
            vitiligo + 47
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            pigmentation disease 244
              Hypopigmentation 103
                Albinism + 48
                Cole Disease 1
                External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 0
                HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
                Hernandez Fragoso Syndrome 0
                Leukonychia Totalis + 3
                Raindrop Hypopigmentation 0
                Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                hypomelanosis of Ito 2
                vitiligo + 47
paths to the root

NHLBI Logo

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