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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:pigmentation disease
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Accession:DOID:10123 term browser browse the term
Definition:A skin disease that is characterized by discoloration of the skin. (DO)
Synonyms:exact_synonym: Ito Syndrome;   Pigmentation Disorder;   Pigmentation Disorders;   Schamberg Disease;   Schamberg's Disease;   Schambergs disease;   incontinentia pigmenti achromians
 primary_id: MESH:D010859
 xref: EFO:1000755;   ICD9CM:709.09;   MIM:PS227220
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
pigmentation disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145 		JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16960809 NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974 		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 Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
acanthosis nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
ClinVar Annotator: match by term: Acanthosis nigricans
DNA:mutation:cds:p.K650M(human)		 ClinVar
RGD		 PMID:11055896 PMID:11314002 PMID:16912704 PMID:17875876 PMID:18000903 More... RGD:11568026, RGD:11568054 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:28492532 PMID:29751792 PMID:31464584 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO RGD PMID:11436180 RGD:1642802 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		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
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:		 OMIM
ClinVar
CTD
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
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:11115845 PMID:11214907 PMID:26785811 PMID:28041643 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715 		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
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO
ISS		 ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
OMIM:123790
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Bloch-Sulzberger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO
ISS		 ClinVar Annotator: match by term: Incontinentia pigmenti syndrome
OMIM:308300
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8169255 PMID:9450877 PMID:10839543 PMID:11047757 PMID:11179023 More... RGD:1600008, RGD:12791266 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISS OMIM:308300 MouseDO NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		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
Cafe au lait Spots, Multiple term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cafe au lait spots, multiple ClinVar PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:8499944 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cafe au lait spots, multiple ClinVar NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
Cafe-au-Lait Spots term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:10607834 PMID:10712197 PMID:12112660 PMID:12807981 PMID:16199547 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma OMIM
ClinVar		 PMID:25315659 PMID:25741868 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870 		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:9215679 PMID:11857544 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28132693 PMID:28492532 PMID:31898847 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 PMID:28492532 NCBI chr17:51,138,419...51,262,894
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:9215679 PMID:11857544 PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 PMID:28492532 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Ero1b endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 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:9215679 PMID:11857544 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:9215679 PMID:11857544 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:9215679 PMID:11857544 PMID:28492532 NCBI chr17:86,003,635...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:9215679 PMID:11857544 PMID:28492532 NCBI chr17:58,053,288...58,093,895
Ensembl chr17:58,051,700...58,093,948 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition		 ClinVar PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685 		JBrowse link
G Lgals8 galectin 8 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 PMID:28492532 NCBI chr17:58,024,652...58,052,764
Ensembl chr17:58,028,105...58,052,764 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP
ISO
ISS		 ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition
OMIM:214500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
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 Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 PMID:28492532 NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More... NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 PMID:28492532 NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More... NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More... NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More... NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24524345 PMID:25741868 PMID:28492532 NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9215679 PMID:11857544 PMID:28492532 NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More... NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More... NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		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 term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		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:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568032 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME		 CTD
ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:10733662 PMID:11710919 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		JBrowse link
Dowling-Degos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786 		JBrowse link
G Poglut1 protein O-glucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434 		JBrowse link
Dowling-Degos Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Dowling-Degos disease 1 OMIM
ClinVar		 PMID:3188604 PMID:7520042 PMID:8807337 PMID:14674915 PMID:16465624 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Dowling-Degos Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pofut1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 2 OMIM
ClinVar		 PMID:23684010 PMID:25157627 PMID:25229252 PMID:25741868 PMID:28492532 More... NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786 		JBrowse link
Dowling-Degos Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poglut1 protein O-glucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 4 OMIM
ClinVar		 PMID:20664185 PMID:21971768 PMID:24387993 PMID:25741868 PMID:27479915 More... NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434 		JBrowse link
Dubin-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO
IMP		 ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome
DNA:missense mutation, deletions:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557 PMID:10053008 More... RGD:1598616, RGD:150429696, RGD:69812 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP RGD PMID:14731123 RGD:1598620 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Rdx radixin ISS OMIM:237500 MouseDO NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678 		JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873 		JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573 		JBrowse link
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 ClinVar
CTD
OMIM
RGD		 PMID:8627722 PMID:9536098 PMID:9889202 PMID:12916015 PMID:15102079 More... RGD:1559268, RGD:13432090 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108 		JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942 		JBrowse link
Dyschromatosis Universalis Hereditaria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1		 OMIM
CTD
ClinVar		 PMID:12190883 PMID:15150790 PMID:23333244 PMID:25741868 PMID:26203640 More... NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870 		JBrowse link
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3 OMIM
ClinVar		 PMID:2998465 PMID:15142123 PMID:23180570 PMID:23519333 PMID:24224009 More... NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31570889 PMID:31821646 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
familial progressive hyperpigmentation with or without hypopigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive OMIM
ClinVar		 PMID:15040480 PMID:15551335 PMID:19375057 PMID:21368769 PMID:24033266 More... NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		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:12148598 PMID:16551969 PMID:18350256 PMID:19953648 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
ISS		 OMIM:214450
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type		 OMIM
MouseDO
CTD
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 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 Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849 		JBrowse link
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 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 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 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... 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
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 ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		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:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 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
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar		 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 1:79,155,873...79,158,247
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:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... 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...68,327,380
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
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 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:9536098 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:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 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:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome		 CTD
ClinVar
RGD		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 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: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 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO
ISS		 DNA:duplication:exon
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
OMIM:203300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... RGD:1625056 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 ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047 		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: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... 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:25741868 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 Aggf1 angiogenic factor with G patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO
ISS		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
OMIM:608233
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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		 PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
G Crhbp corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226 		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:25741868 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
G Lhfpl2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950 		JBrowse link
G Otp orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,108,158...26,116,359
Ensembl chr 2:26,108,163...26,116,359 		JBrowse link
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
G S100z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,737,796...26,753,611
Ensembl chr 2:26,738,776...26,752,390 		JBrowse link
G Scamp1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673 		JBrowse link
G Tbca tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,011,714...26,065,909
Ensembl chr 2:26,011,795...26,065,907 		JBrowse link
G Wdr41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,222,797...26,273,849
Ensembl chr 2:26,224,495...26,273,836 		JBrowse link
G Zbed3 zinc finger, BED-type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:26,587,620...26,600,177
Ensembl chr 2:26,587,572...26,600,386 		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
ISS		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
OMIM:614072
DNA:splice-site mutation:intron:1303+1G>A (human)		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 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
ISS		 OMIM:614073
ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4		 OMIM
MouseDO
ClinVar		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 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
ISS		 ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
OMIM:614074		 OMIM
ClinVar
MouseDO		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 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
ISS		 ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
OMIM:614075		 OMIM
ClinVar
MouseDO		 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
ISS		 ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
OMIM:614076		 OMIM
ClinVar
MouseDO		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... 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
ISS		 OMIM:614077
ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8		 OMIM
MouseDO
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,873...79,158,247
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
ISS		 ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9
OMIM:614171		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
Heterochromia Iridis 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: Heterochromia iridis ClinVar PMID:8659547 PMID:9856573 PMID:25741868 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
Hyperpigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28029781 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Hyperpigmentation ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Hyperpigmentation ClinVar PMID:25741868 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Hyperpigmentation ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:163,539,732...163,542,771 JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
hypomelanosis of Ito term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Hypopigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP compared to LE/Hkv.AR-Ednrbsl RGD PMID:26796131 RGD:10755346 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP compared to AR-Ednrbsl/Hkv RGD PMID:26796131 RGD:10755346
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222957 NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18397875 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Mc1r melanocortin 1 receptor ISO DNA:missense mutations,insertions:cds:multiple RGD PMID:11030758 RGD:1600618 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		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 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		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:25741868 PMID:28492532 PMID:31155284 NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
inflammatory poikiloderma with hair abnormalities and acral keratoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM
ClinVar		 PMID:34999892 NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563 		JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: IRAN, TYPE A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Legius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam98b family with sequence similarity 98, member B ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2275304 PMID:9536098 PMID:15683364 PMID:16199547 PMID:17576681 More... NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
Lentigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:dermis: RGD PMID:20662835 RGD:8548653 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:30721697 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
neonatal jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutation: :563C>T (human) RGD PMID:24460025 RGD:10449116 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22371261 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome		 OMIM
CTD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		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 ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 OMIM
ClinVar		 PMID:21665001 PMID:25741868 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186 		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:7874125 PMID:8302318 PMID:10649493 PMID:12876664 PMID:18463683 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:18821858 PMID:25741868 PMID:28266639 PMID:28492532 PMID:30868578 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
Noonan syndrome with multiple lentigines term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:20301557 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines ClinVar PMID:17366577 PMID:24033266 PMID:24719372 PMID:28492532 PMID:30773290 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like ISO ClinVar Annotator: match by term: Cardio-cutaneous syndrome ClinVar PMID:28069640 NCBI chr 1:79,010,997...79,030,714
Ensembl chr 1:79,011,745...79,030,712 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines		 CTD
ClinVar
MouseDO
RGD		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... RGD:11070277 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines		 CTD
ClinVar		 PMID:1760348 PMID:10064593 PMID:11447113 PMID:17603482 PMID:17603483 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:exons:p.Y279C, p.T468M (human)
ClinVar Annotator: match by term: LEOPARD syndrome 1
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.Y279S, p.Q510P (human)		 ClinVar
OMIM
RGD		 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 PMID:3274644 More... RGD:1601571, RGD:11062587, RGD:11062391 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkrn2 makorin, ring finger protein, 2 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:148,661,529...148,679,580
Ensembl chr 4:148,661,553...148,679,642 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Tmem40 transmembrane protein 40 ISO ClinVar Annotator: match by term: LEOPARD syndrome 2 ClinVar NCBI chr 4:148,791,509...148,819,287
Ensembl chr 4:148,791,505...148,823,665 		JBrowse link
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: LEOPARD syndrome 3 OMIM
ClinVar		 PMID:11313766 PMID:12068308 PMID:12810628 PMID:12960123 PMID:14749708 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
Obesity and Hypopigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Obesity and hypopigmentation ClinVar PMID:36536132 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Asip agouti signaling protein ISO ClinVar Annotator: match by term: Obesity and hypopigmentation ClinVar PMID:36536132 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Obesity and hypopigmentation ClinVar PMID:36536132 NCBI chr 3:143,642,348...143,733,745
Ensembl chr 3:143,645,637...143,733,543 		JBrowse link
ocular albinism 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 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 ISO
ISS		 ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I
OMIM:300500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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
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 3:112,319,349...112,338,889
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
RGD		 PMID:13680365 PMID:23504663 PMID:25741868 PMID:28492532 PMID:7704033 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 PMID:28492532 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		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:1676041 PMID:1899321 PMID:1903591 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 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:7874125 PMID:8302318 PMID:9259203 PMID:10987646 PMID:12876664 More... 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 3:112,319,349...112,338,889
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
ISS		 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
MouseDO
CTD
RGD		 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1832718 PMID:1899321 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 Annotator: match by term: TYR-related condition ClinVar PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 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 susceptibility
treatment		 ISO DNA:missense mutation:exon: p.I151S(human)
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:		 OMIM
ClinVar
CTD
RGD		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... RGD:8694334, RGD:8694340, RGD:8694337, RGD:8694335, RGD:8694335 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 susceptibility ISO CTD Direct Evidence: marker/mechanism
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		 CTD
OMIM
ClinVar		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B ClinVar PMID:25741868 NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756 		JBrowse link
oculocutaneous albinism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism		 OMIM
CTD
ClinVar		 PMID:7581459 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 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: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
CTD Direct Evidence: marker/mechanism
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
CTD
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 Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		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 | ClinVar Annotator: match by term: TYRP1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8651291 PMID:9345097 PMID:9536098 PMID:15996218 PMID:16199547 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 Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human)
ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV | ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
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 PMID:26686029 More... 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 PMID:26686029 More... NCBI chr 3:112,319,349...112,338,889
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 PMID:29345414 More... NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749 		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:25741868 PMID:33100333 PMID:33959807 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
Peutz-Jeghers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656 		JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17934846 NCBI chr16:70,342,530...70,344,854
Ensembl chr16:70,342,530...70,344,836 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172 		JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO
ISS		 ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome
OMIM:175200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9399902 PMID:9425897 PMID:9428765 PMID:9536098 PMID:9731485 More... RGD:1600691 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204 		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
ISS		 ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive
OMIM:172800
CTD Direct Evidence: marker/mechanism
DNA:missense, frameshift mutations:cds:		 ClinVar
MouseDO
CTD
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: Piebaldism		 ClinVar
RGD		 PMID:12444107 PMID:12955764 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1600041 NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200 		JBrowse link
PLACK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads OMIM
ClinVar		 PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		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 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
reticulate acropigmentation of Kitamura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 susceptibility ISO ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura ClinVar
OMIM		 PMID:23666529 PMID:25741868 PMID:28492532 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OMIM
ClinVar		 PMID:17236130 PMID:17952075 PMID:18172690 PMID:18252221 PMID:18252222 More... NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES ClinVar PMID:25741868 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES OMIM
ClinVar		 PMID:1773534 PMID:7762554 PMID:7874125 PMID:8302318 PMID:8980282 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 10 OMIM
ClinVar		 PMID:18488028 PMID:25741868 NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 11 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: MELANESIAN BLOND HAIR | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 11 OMIM
ClinVar		 PMID:16704458 PMID:21739261 PMID:22556244 PMID:24449225 PMID:25741868 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		JBrowse link
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 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: RED HAIR COLOR | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 2 OMIM
ClinVar		 PMID:9302268 PMID:10631149 PMID:11933208 PMID:12839583 PMID:12851329 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase susceptibility ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3 ClinVar
OMIM		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 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 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 5 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 ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 OMIM
ClinVar		 PMID:14722913 PMID:15565285 PMID:15714523 PMID:17044855 PMID:17768386 More... NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR ClinVar
OMIM		 PMID:17952075 NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN ClinVar
OMIM		 PMID:17952075 PMID:18083106 PMID:24880339 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf4 interferon regulatory factor 4 ISO ClinVar Annotator: match by term: IRF4-related condition | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8 OMIM
ClinVar		 PMID:18483556 PMID:24267888 PMID:25631878 PMID:25741868 PMID:28492532 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
Symmetric Acroleukopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Acroleukopathy, symmetric ClinVar PMID:22319033 PMID:23038625 PMID:25741868 PMID:26792934 PMID:27253664 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
terminal osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome OMIM
ClinVar		 PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tietz syndrome
OMIM:103500		 CTD
OMIM
ClinVar
MouseDO		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
urticaria pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877 		JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C4a complement C4A ISO associated with Graves Disease RGD PMID:21943165 RGD:5688264 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080 		JBrowse link
G Casp7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729 		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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Clnk cytokine-dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr14:71,923,894...72,101,180
Ensembl chr14:71,873,105...72,101,208 		JBrowse link
G Clu clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		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 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Foxd3 forkhead box D3 susceptibility ISO ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 ClinVar
OMIM		 PMID:16098053 NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A treatment ISO RGD PMID:23447019 RGD:8662840 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341 		JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28836394 PMID:16911396 RGD:7794736 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar PMID:28492532 PMID:32628964 PMID:32888943 NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		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 1:228,016,439...228,024,736 JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar
OMIM		 PMID:17377159 PMID:25741868 PMID:27662089 PMID:28492532 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Sla src-like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648 		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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28836394 PMID:16911396 RGD:7794736 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688 		JBrowse link
G Tyr tyrosinase severity ISO RGD PMID:22834951 PMID:8697641 RGD:8694387, RGD:8694409 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Waardenburg Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8630502 PMID:8630503 PMID:17516928 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly ClinVar
RGD		 PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Sox10 SRY-box transcription factor 10 ISO DNA:missense mutations,insertion,deletion:cds: RGD PMID:9462749 RGD:12832744 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg syndrome type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISS
ISO		 OMIM:277580
ClinVar Annotator: match by term: Waardenburg syndrome type 4A		 MouseDO
ClinVar
OMIM		 PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A ClinVar PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Waardenburg syndrome type 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4B
OMIM:613265
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 More... NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
Waardenburg syndrome type 4C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4C ClinVar PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS		 ClinVar Annotator: match by term: Waardenburg syndrome type 4C
OMIM:613266
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 More... NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Watson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar		 PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
X-linked reticulate pigmentary disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: POLA1-related condition | ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 PMID:8798680 RGD:1601050 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7849702 PMID:7920640 More... RGD:1601068 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD		 PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 More... RGD:1598912, RGD:7246919 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO DNA:deletion, point mutation:2281delTCTC, p.R788W
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... RGD:1601093, RGD:7246919 NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD		 PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... RGD:7246919 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
G Polh DNA polymerase eta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum		 CTD
ClinVar		 PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:10398605 PMID:11773631 PMID:18368133 PMID:24130121 PMID:25256075 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 More... RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 More... RGD:1599878, RGD:7246919 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpa XPA, DNA damage recognition and repair factor ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum group A
OMIM:278700		 OMIM
ClinVar
MouseDO		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group A ClinVar PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 More... NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO
ISS		 OMIM:610651
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum group B		 OMIM
MouseDO
CTD
ClinVar		 PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:25741868 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
OMIM:278720
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010 		JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO
ISS		 ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
OMIM:278730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
xeroderma pigmentosum group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb2 damage specific DNA binding protein 2 ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
OMIM:278740
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
OMIM:278760
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Mir193b microRNA 193b ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824 		JBrowse link
G Mrtfb myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,116,315...1,278,106
Ensembl chr10:1,116,310...1,277,897 		JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560 		JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
OMIM:278780
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polh DNA polymerase eta ISO
ISS		 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
OMIM:278750
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:11773631 PMID:24130121 PMID:25256075 PMID:25741868 PMID:28202063 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISS OMIM:610965 MouseDO NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    sensory system disease 7253
      skin disease 4197
        pigmentation disease 306
          ADULT syndrome 1
          Anonychia with Flexural Pigmentation 0
          Argyria 0
          BADS syndrome 0
          Basaran Yilmaz Syndrome 1
          Bloch-Sulzberger syndrome + 2
          Bullous Dystrophy, Hereditary Macular Type 0
          Cafe-au-Lait Spots + 9
          Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
          Elejalde Disease 0
          FLOTCH Syndrome 0
          Griscelli syndrome + 7
          Grouped Pigmentation of the Macula 0
          Heterochromia Iridis 1
          Hyperpigmentation + 50
          Hypopigmentation + 168
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Macules Hereditary Congenital Hypopigmented and Hyperpigmented 0
          Oculocerebral Hypopigmentation Syndrome Type Preus 0
          Pigmented Purpuric Eruption 0
          Precocious Graying of Hair 0
          Red Skin Pigment Anomaly of New Guinea 0
          Russell-Silver Syndrome, X-Linked 0
          SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
          Skin/Hair/Eye Pigmentation, Variation In, 1 3
          Skin/Hair/Eye Pigmentation, Variation In, 10 1
          Skin/Hair/Eye Pigmentation, Variation In, 11 1
          Skin/Hair/Eye Pigmentation, Variation In, 3 1
          Skin/Hair/Eye Pigmentation, Variation In, 4 2
          Skin/Hair/Eye Pigmentation, Variation In, 5 1
          Skin/Hair/Eye Pigmentation, Variation In, 6 1
          Skin/Hair/Eye Pigmentation, Variation In, 7 1
          Skin/Hair/Eye Pigmentation, Variation In, 8 1
          Symmetric Acroleukopathy 1
          Tang Hsi Ryu Syndrome 0
          Thumb Deformity, Alopecia, Pigmentation Anomaly 0
          Waardenburg Syndrome Type 4 + 7
          White Forelock with Malformations 0
          Whyte Murphy Syndrome 0
          X-linked reticulate pigmentary disorder 1
          acanthosis nigricans + 9
          conjunctival pigmentation 0
          dyschromatosis symmetrica hereditaria 21
          dyschromatosis universalis hereditaria + 2
          inflammatory poikiloderma with hair abnormalities and acral keratoses 1
          neonatal jaundice + 9
          stromal corneal pigmentation 0
          terminal osseous dysplasia 1
          urticaria pigmentosa 1
          xeroderma pigmentosum + 22
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            skin disease 4197
              pigmentation disease 306
                ADULT syndrome 1
                Anonychia with Flexural Pigmentation 0
                Argyria 0
                BADS syndrome 0
                Basaran Yilmaz Syndrome 1
                Bloch-Sulzberger syndrome + 2
                Bullous Dystrophy, Hereditary Macular Type 0
                Cafe-au-Lait Spots + 9
                Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
                Elejalde Disease 0
                FLOTCH Syndrome 0
                Griscelli syndrome + 7
                Grouped Pigmentation of the Macula 0
                Heterochromia Iridis 1
                Hyperpigmentation + 50
                Hypopigmentation + 168
                Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
                Macules Hereditary Congenital Hypopigmented and Hyperpigmented 0
                Oculocerebral Hypopigmentation Syndrome Type Preus 0
                Pigmented Purpuric Eruption 0
                Precocious Graying of Hair 0
                Red Skin Pigment Anomaly of New Guinea 0
                Russell-Silver Syndrome, X-Linked 0
                SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 1
                Skin/Hair/Eye Pigmentation, Variation In, 1 3
                Skin/Hair/Eye Pigmentation, Variation In, 10 1
                Skin/Hair/Eye Pigmentation, Variation In, 11 1
                Skin/Hair/Eye Pigmentation, Variation In, 3 1
                Skin/Hair/Eye Pigmentation, Variation In, 4 2
                Skin/Hair/Eye Pigmentation, Variation In, 5 1
                Skin/Hair/Eye Pigmentation, Variation In, 6 1
                Skin/Hair/Eye Pigmentation, Variation In, 7 1
                Skin/Hair/Eye Pigmentation, Variation In, 8 1
                Symmetric Acroleukopathy 1
                Tang Hsi Ryu Syndrome 0
                Thumb Deformity, Alopecia, Pigmentation Anomaly 0
                Waardenburg Syndrome Type 4 + 7
                White Forelock with Malformations 0
                Whyte Murphy Syndrome 0
                X-linked reticulate pigmentary disorder 1
                acanthosis nigricans + 9
                conjunctival pigmentation 0
                dyschromatosis symmetrica hereditaria 21
                dyschromatosis universalis hereditaria + 2
                inflammatory poikiloderma with hair abnormalities and acral keratoses 1
                neonatal jaundice + 9
                stromal corneal pigmentation 0
                terminal osseous dysplasia 1
                urticaria pigmentosa 1
                xeroderma pigmentosum + 22
                yellow nail syndrome + 0
paths to the root