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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:Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.
Synonyms:exact_synonym: Incontinentia Pigmenti Achromians;   Ito Syndrome;   Pigmentation Disorder;   Pigmentation Disorders;   Schamberg Disease;   Schamberg's Disease;   Schambergs Disease
 primary_id: MESH:D010859
 alt_id: RDO:0000666
 xref: ICD9CM:709.09;   OMIM: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 Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:8146154 PMID:32937126 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
JBrowse link
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 chr10:85,137,932...85,141,990
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:28492532 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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: Acro-dermato-ungual-lacrimal-tooth syndrome
ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 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
DNA:deletion:exon:
OMIM
ClinVar
RGD
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:33100333 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:28041643 NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:28041643 PMID:28492532 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:1903591 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:25741868 PMID:28041643 PMID:28492532 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 ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:7558045 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 G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: INCONTINENTIA PIGMENTI, TYPE II ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome
ClinVar Annotator: match by term: Incontinentia pigmenti, atypical
ClinVar Annotator: match by term: INCONTINENTIA PIGMENTI, TYPE II
DNA:deletion:exons:
ClinVar Annotator: match by OMIM:308300
ClinVar
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: Multiple cafe-au-lait spots
ClinVar Annotator: match by term: Cafe au lait spots, multiple
ClinVar PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:8837715 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 Annotator: match by term: Cafe-au-lait spots
ClinVar PMID:9536098 PMID:10607834 PMID:10712197 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 chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
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 spots ClinVar 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 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 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,448,708...86,497,560 JBrowse link
G Lyst lysosomal trafficking regulator IAGP
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by OMIM:214500
ClinVar
OMIM
RGD
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... RGD:633300 NCBI chr17:86,241,384...86,443,501 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 OMIM:615522
OMIM
ClinVar
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:27889061 PMID:30311386 PMID:34599368 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
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: CROUZONODERMOSKELETAL SYNDROME
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans
ClinVar Annotator: match by OMIM:612247
DNA:missense mutation:p.A391E(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1908846 PMID:7493034 PMID:7773297 PMID:8589699 PMID:8858131 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 ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 OMIM
ClinVar
PMID:1303619 NCBI chr10:85,137,932...85,141,990
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 ClinVar Annotator: match by term: Dowling-Degos disease 1
ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura
OMIM
ClinVar
PMID:3188604 PMID:14674915 PMID:16465624 PMID:20222933 PMID:25741868 NCBI chr 7:132,846,355...132,851,986
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 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
ClinVar Annotator: match by OMIM:615327
OMIM
ClinVar
PMID:23684010 PMID:28492532 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
ClinVar Annotator: match by OMIM:615696
OMIM
ClinVar
PMID:20664185 PMID:21971768 PMID:24387993 PMID:27479915 PMID:28492532 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
DNA:missense mutation, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Dubin-Johnson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:237500
ClinVar
CTD
OMIM
RGD
PMID:9185779 PMID:9425227 PMID:9878557 PMID:10053008 PMID:10464142 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...174,950,857
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
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:127400
ClinVar
OMIM
RGD
PMID:8627722 PMID:9536098 PMID:9889202 PMID:12916015 PMID:15146470 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 Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
dyschromatosis universalis hereditaria 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 ISS OMIM:127500 | OMIM:612715 | OMIM:615402 MouseDO NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISS OMIM:127500 | OMIM:612715 | OMIM:615402 MouseDO NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
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 ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1 OMIM
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 OMIM:615402 OMIM
ClinVar
PMID:23519333 PMID:24224009 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 ClinVar
OMIM
PMID:25741868 PMID:31570889 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: Familial progressive hyperpigmentation with or without hypopigmentation
ClinVar Annotator: match by term: Hyperpigmentation, familial progressive, 2
OMIM
ClinVar
PMID:15551335 PMID:19375057 PMID:21368769 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 disease ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by OMIM:214450
OMIM
ClinVar
PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 More... NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624
OMIM
ClinVar
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12531900 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar Annotator: match by OMIM:609227
OMIM
ClinVar
PMID:12148598 PMID:12897212 PMID:25741868 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 null ClinVar PMID:12148598 PMID:12897212 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: Hereditary spastic paraplegia 23 OMIM
ClinVar
PMID:25741868 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:24033266 PMID:25741868 PMID:28492532 PMID:12125811 PMID:11056055 More... RGD:1578409, RGD:11087577, RGD:11087576 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:31064749 NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 ISS MouseDO NCBI chr14:74,043,025...74,044,325
Ensembl chr14:74,043,015...74,044,531
JBrowse link
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISS
ISO
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome MouseDO
ClinVar
PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
PMID:21665000 PMID:22461475 PMID:26575419 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO DNA:deletion:intron, exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD
ClinVar
RGD
PMID:24033266 PMID:12923531 RGD:11251756 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 More... NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO DNA:deletion:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25525159 More... RGD:1599538 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense,frameshift,insertion mutations:cds:
DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)
ClinVar
CTD
RGD
PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 PMID:12664304 More... RGD:1599546, RGD:11354897, RGD:11353873 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:21833017 PMID:23607980 PMID:24698632 PMID:25741868 PMID:28640947 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 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 Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 ClinVar PMID:23364359 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 DNA:duplication:exon
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
ClinVar Annotator: match by OMIM:203300
ClinVar
OMIM
RGD
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9562579 More... RGD:1625056 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS OMIM:203300 MouseDO NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome 10 ClinVar
OMIM
PMID:26744459 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar
PMID:32565547 NCBI chr17:26,171,965...26,197,276
Ensembl chr17:26,172,018...26,197,251
JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
ClinVar Annotator: match by term: Hermansky Pudlak syndrome 2
ClinVar Annotator: match by OMIM:608233
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8042664 PMID: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 OMIM:608233 MouseDO NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:28492532 PMID:32581362 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3
DNA:splice-site mutation:intron:1303+1G>A (human)
ClinVar Annotator: match by OMIM:614072
OMIM
ClinVar
RGD
PMID:11455388 PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 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 Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
ClinVar Annotator: match by OMIM:614073
OMIM
ClinVar
PMID:11836498 PMID:12664304 PMID:15108212 PMID:20158590 PMID:24033266 More... NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5
ClinVar Annotator: match by OMIM:614074
OMIM
ClinVar
PMID:12548288 PMID:15296495 PMID:21833017 PMID:22995991 PMID:23607980 More... NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6
ClinVar Annotator: match by OMIM:614075
OMIM
ClinVar
PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr 1:244,853,256...244,855,865
Ensembl chr 1:244,853,194...244,855,883
JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7
ClinVar Annotator: match by OMIM:614076
OMIM
ClinVar
PMID:12923531 PMID:23364359 PMID:25741868 PMID:28259707 NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
ClinVar Annotator: match by OMIM:614077
OMIM
ClinVar
PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,914...79,158,326
Ensembl chr 1:79,155,693...79,158,505
JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21665000 PMID:22461475 PMID:25741868 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 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 G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:8169255 PMID:9450877 PMID:10839543 PMID:11047757 PMID:11179023 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 autophagy protein 5 homolog 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 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
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
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: IRAN, TYPE A
ClinVar Annotator: match by OMIM:610549
OMIM
ClinVar
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 3:104,134,759...104,164,249 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 OMIM:611431
OMIM
ClinVar
PMID:9536098 PMID:15683364 PMID:16199547 PMID:17576681 PMID:17704776 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
Leukonychia Totalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by OMIM:151600 ClinVar PMID:21665001 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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 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
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Neonatal jaundice ClinVar PMID:32666583 NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
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 ClinVar Annotator: match by term: NEUROMELANOSIS
ClinVar Annotator: match by term: Neurocutaneous melanosis
OMIM
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 OMIM 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:8302318 PMID:10649493 PMID:12876664 PMID:18463683 PMID:20426782 More... NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:28266639 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:28266639 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: LEOPARD Syndrome
ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines
ClinVar PMID:17704260 PMID:18042262 PMID:19206169 PMID:19416762 PMID:22190897 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 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 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by OMIM:151100
ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC
ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines
ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9491886 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 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 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines
ClinVar Annotator: match by term: LEOPARD Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1760348 PMID:8601312 PMID:10064593 PMID:11447113 PMID:12077328 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:9491886 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 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 PMID:28492532 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 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 OMIM
ClinVar
PMID:1760348 PMID:8601312 PMID:9536098 PMID:10064593 PMID:10497893 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 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:12068308 PMID:12810628 PMID:12960123 PMID:14749708 PMID:15578519 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
ocular albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISS OMIM:300500 MouseDO NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231
JBrowse link
G Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism
ClinVar
OMIM
RGD
PMID:25741868 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 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
Ocular Albinism Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Ocular albinism, type I
ClinVar Annotator: match by OMIM:300500
OMIM
ClinVar
PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1905879 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
oculocutaneous albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: RGD PMID:16185271 RGD:11354899 NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO
ISS
ClinVar Annotator: match by term: Oculocutaneous albinism
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312
ClinVar
MouseDO
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO
ISS
ClinVar Annotator: match by term: Oculocutaneous albinism
OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
G Tyr tyrosinase treatment IAGP
ISO
DNA:missense mutation:exon:p.R299H (rat)
ClinVar Annotator: match by term: Oculocutaneous albinism
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.S128I(mouse)
DNA:mutations:multiple:
OCA1, OMIM:203100, OCA1B, OMIM:606952
ClinVar
CTD
RGD
PMID:666627 PMID:1429711 PMID:1642278 PMID:1820207 PMID:1832718 More... RGD:1599687, RGD:8694352, RGD:8694345, RGD:8694338, RGD:1599686 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO OCA3, OMIM:203290
ClinVar Annotator: match by term: Oculocutaneous albinism
ClinVar
RGD
PMID:8651291 RGD:1599692 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1900307 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
oculocutaneous albinism type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type IA ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Tyr tyrosinase treatment ISO ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism
ClinVar Annotator: match by OMIM:203100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OCA1
DNa:mutations:cds:p.R77Q,p.P310insC,p.D383N(human)
DNA:mutations:multiple:
DNA:missense mutation:exon: p.I151S(human)
OMIM
ClinVar
CTD
RGD
PMID:666627 PMID:1429711 PMID:1642278 PMID:1711223 PMID:1820207 More... RGD:8694340, RGD:8694337, RGD:8694335, RGD:8694335, RGD:8694334 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
oculocutaneous albinism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB
ClinVar Annotator: match by term: Yellow albinism
OMIM
ClinVar
PMID:666627 PMID:1429711 PMID:1642278 PMID:1820207 PMID:1832718 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
oculocutaneous albinism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
OMIM
ClinVar
PMID:7581459 PMID:9032047 PMID:9571181 PMID:9665397 PMID:12839583 More... NCBI chr19:51,452,448...51,455,375 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism
ClinVar Annotator: match by OMIM:203200
DNA:deletion:exons, introns:IVS9+13636-IVS20-6592del (human)
DNA:snps:cds, intron:p.N486Y, c.1045-15T>G (human)
DNA:missense mutation:cds:p.G775D (human)
DNA:deletion:exon:699-?-859+?del (human)
OMIM
ClinVar
RGD
PMID:1773534 PMID:7762554 PMID:7874125 PMID:7920637 PMID:8302318 More... RGD:9491836, RGD:9491830, RGD:9491821, RGD:9491820 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF ClinVar PMID:9345097 PMID:18680187 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 OMIM:203290
OMIM
ClinVar
PMID:8651291 PMID:9345097 PMID:15996218 PMID:16704458 PMID:18326704 More... NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
JBrowse link
oculocutaneous albinism type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc45a2 solute carrier family 45, member 2 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human)
ClinVar Annotator: match by term: Oculocutaneous albinism type 4
ClinVar Annotator: match by OMIM:606574
ClinVar
OMIM
RGD
PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 More... RGD:1599921 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
oculocutaneous albinism type VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI ClinVar PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE VI
ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI
ClinVar
OMIM
PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231
JBrowse link
oculocutaneous albinism type VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VII
ClinVar Annotator: match by OMIM:615179
OMIM
ClinVar
PMID:23395477 PMID:25741868 PMID:26818737 PMID:28492532 NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749
JBrowse link
Oculocutaneous Albinism Type VIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII OMIM
ClinVar
PMID:33100333 PMID:33959807 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO ClinVar Annotator: match by OMIM:616295
ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
ClinVar
OMIM
PMID:3527073 PMID:25683118 PMID:25741868 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
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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 More... NCBI chr 7:9,712,505...9,719,711
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...70,344,836
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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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 ClinVar Annotator: match by term: Peutz-Jeghers syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:175200
ClinVar
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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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:16287113 PMID:16648371 PMID:17924967 PMID:20623358 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
ClinVar Annotator: match by OMIM:601675
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 ClinVar Annotator: match by term: Partial albinism
ClinVar Annotator: match by term: Piebaldism
DNA:missense, frameshift mutations:cds:
ClinVar Annotator: match by OMIM:172800
ClinVar Annotator: match by term: Piebaldism with sensorineural deafness
ClinVar Annotator: match by term: Piebaldism, progressive
ClinVar
OMIM
RGD
PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 More... RGD:1600045, RGD:12910729 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Snai2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Partial albinism
ClinVar Annotator: match by OMIM:172800
ClinVar
OMIM
RGD
PMID:12955764 PMID:24033266 PMID:28492532 PMID:30936914 PMID:12444107 RGD:1600041 NCBI chr11:86,183,800...86,186,109
Ensembl chr11:86,181,909...86,186,200
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 ISO ClinVar Annotator: match by OMIM:615537 OMIM
ClinVar
PMID:23666529 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, variation in, 1 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, variation in, 1 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, variation in, 1 OMIM
ClinVar
PMID:7874125 PMID:10987646 PMID:12163334 PMID:12876664 PMID:15889046 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 ClinVar
OMIM
PMID:18488028 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: Skin/hair/eye pigmentation, variation in, 11 OMIM
ClinVar
PMID:22556244 PMID:24449225 PMID:28492532 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
ClinVar
OMIM
PMID:12839583 PMID:18067130 PMID:23522749 PMID:23647022 PMID:24335900 More... NCBI chr19:51,452,448...51,455,375 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:31949055 NCBI chr 3:112,319,305...112,339,231
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, variation in, 5 ClinVar
OMIM
PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 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, variation in, 6 ClinVar PMID:17952075 NCBI chr 6:121,278,746...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, variation in, 7 ClinVar 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: Skin/hair/eye pigmentation, variation in, 8 ClinVar PMID:18483556 PMID:24267888 PMID:25631878 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 9 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: Skin/hair/eye pigmentation, variation in, 9 ClinVar PMID:11833005 PMID:18488028 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: Skin/hair/eye pigmentation, variation in, 9 ClinVar PMID:11833005 PMID:18488028 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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:19474519 PMID:20833337 PMID:21512261 PMID:22319033 PMID:23038625 More... NCBI chr 1:201,407,287...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 AND PIGMENTARY DEFECTS
OMIM
ClinVar
PMID:9536098 PMID:9800904 PMID:10982965 PMID:15864382 PMID:17152064 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 ClinVar Annotator: match by term: Tietz syndrome OMIM
ClinVar
PMID:2440678 PMID:8659547 PMID:10851256 PMID:13985019 PMID:16199547 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
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 1:255,437,195...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 (Indian blood group) 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 OMIM:607836
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16098053 NCBI chr 5:114,334,693...114,337,788 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
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 Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 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 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...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A susceptibility ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17377159 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...32,963,611
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 chr12:34,749,849...34,753,616
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:8001158 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 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...110,735,544
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 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4A
ClinVar Annotator: match by OMIM:277580
OMIM
ClinVar
PMID:7778600 PMID:8001158 PMID:8634719 PMID:8852659 PMID:8852660 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...110,735,544
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 ISO ClinVar Annotator: match by term: Waardenburg syndrome type 4B
ClinVar Annotator: match by OMIM:613265
OMIM
ClinVar
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 Annotator: match by term: Waardenburg syndrome type 4C
ClinVar PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 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 ClinVar Annotator: match by term: Waardenburg syndrome type 4C
ClinVar Annotator: match by OMIM:613266
OMIM
ClinVar
PMID:9462749 PMID:10077527 PMID:18348274 PMID:24033266 PMID:25741868 More... NCBI chr 7:110,725,274...110,735,544
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: Café-au-lait macules with pulmonary stenosis
ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots
OMIM
ClinVar
PMID:190611 PMID:1302608 PMID:1568246 PMID:1568247 PMID:7904209 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: Pigmentary disorder, reticulate, with systemic manifestations
ClinVar Annotator: match by term: Pigmentary disorder, reticulate, with systemic manifestations, X-linked
ClinVar
OMIM
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: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:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 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:25741868 PMID:26023681 PMID:27004399 PMID:27153395 PMID:27356891 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:25741868 PMID:8797827 PMID:22824526 RGD:1601093, RGD:7246919 NCBI chr10:2,416,259...2,448,364 JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD
PMID:7951246 PMID:11841555 PMID:23370536 PMID:24033266 PMID:24700531 More... RGD:7246919 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
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:17344931 PMID:18368133 PMID:18703314 PMID:22745795 PMID:24033266 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:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:25741868 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:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... 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 GAD PMID:15118671 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:1372102 PMID:1372103 PMID:1702221 PMID:2234061 PMID:7876263 More... RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:60,431,673...60,476,438
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:10766188 PMID:11511294 PMID:15654957 PMID:16081512 PMID:16199547 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 G / Cockayne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex
ClinVar PMID:2478446 PMID:8317483 PMID:11228268 PMID:25741868 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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 ClinVar Annotator: match by term: XP, group A
ClinVar Annotator: match by term: Xeroderma pigmentosum group A
ClinVar Annotator: match by term: XP, GROUP A
ClinVar
OMIM
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1702221 More... NCBI chr 5:60,431,673...60,476,438
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: XP, group A ClinVar PMID:26227012 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 ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group b
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610651
OMIM
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 Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... 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 ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar Annotator: match by OMIM:278720
OMIM
ClinVar
PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:12177305 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 ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar Annotator: match by OMIM:278730
OMIM
ClinVar
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 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
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 ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group E
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:278740
OMIM
ClinVar
CTD
PMID:10469312 PMID:10585395 PMID:12812979 PMID:21107348 PMID:24728327 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 ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar Annotator: match by term: Xeroderma pigmentosum, type f/Cockayne syndrome
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F
ClinVar Annotator: match by OMIM:278760
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM
ClinVar
PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr10:2,416,259...2,448,364 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 ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
ClinVar Annotator: match by OMIM:278780
OMIM
ClinVar
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 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
ClinVar Annotator: match by term: Xeroderma pigmentosum, variant type
ClinVar Annotator: match by OMIM:278750
OMIM
ClinVar
PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 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 variant type ClinVar PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 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
ClinVar Annotator: match by OMIM:610965
OMIM
ClinVar
PMID:8797827 PMID:9579555 PMID:15886521 PMID:17183314 PMID:20221251 More... NCBI chr10:2,416,259...2,448,364 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        pigmentation disease 223
          ADULT syndrome 1
          Anonychia with Flexural Pigmentation 0
          Argyria 0
          BADS syndrome 0
          Basaran Yilmaz Syndrome 1
          Bloch-Sulzberger syndrome + 3
          Bullous Dystrophy, Hereditary Macular Type 0
          Cafe-au-Lait Spots + 8
          Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
          Elejalde Disease 0
          FLOTCH Syndrome 0
          Griscelli syndrome + 3
          Grouped Pigmentation of the Macula 0
          Heterochromia Iridis 1
          Hyperpigmentation + 46
          Hypopigmentation + 108
          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, 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
          Skin/Hair/Eye Pigmentation, Variation In, 9 2
          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 + 8
          conjunctival pigmentation 0
          dyschromatosis symmetrica hereditaria 2
          dyschromatosis universalis hereditaria + 2
          neonatal jaundice + 10
          stromal corneal pigmentation 0
          terminal osseous dysplasia 1
          urticaria pigmentosa 0
          xeroderma pigmentosum + 19
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            pigmentation disease 223
              ADULT syndrome 1
              Anonychia with Flexural Pigmentation 0
              Argyria 0
              BADS syndrome 0
              Basaran Yilmaz Syndrome 1
              Bloch-Sulzberger syndrome + 3
              Bullous Dystrophy, Hereditary Macular Type 0
              Cafe-au-Lait Spots + 8
              Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 1
              Elejalde Disease 0
              FLOTCH Syndrome 0
              Griscelli syndrome + 3
              Grouped Pigmentation of the Macula 0
              Heterochromia Iridis 1
              Hyperpigmentation + 46
              Hypopigmentation + 108
              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, 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
              Skin/Hair/Eye Pigmentation, Variation In, 9 2
              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 + 8
              conjunctival pigmentation 0
              dyschromatosis symmetrica hereditaria 2
              dyschromatosis universalis hereditaria + 2
              neonatal jaundice + 10
              stromal corneal pigmentation 0
              terminal osseous dysplasia 1
              urticaria pigmentosa 0
              xeroderma pigmentosum + 19
              yellow nail syndrome + 0
paths to the root