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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:Hyperpigmentation
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Accession:DOID:9003984 term browser browse the term
Definition:Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
Synonyms:exact_synonym: Hypermelanoses;   Hypermelanosis
 primary_id: MESH:D017495;   RDO:0000461
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hyperpigmentation term browser
Symbol Object Name 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 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Rpl27a ribosomal protein L27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:174,132,798...174,135,816
Ensembl chr 1:174,132,798...174,135,816
JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
acanthosis nigricans term browser
Symbol Object Name 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 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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 PMID:11055896 PMID:11314002 PMID:16912704 PMID:17875876 PMID:18000903 PMID:20453470 PMID:21510009 PMID:25157968 PMID:28492532, PMID:18583390, PMID:10377013 RGD:11568026, RGD:11568054 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,189,605...38,237,155
Ensembl chr19:38,189,605...38,237,308
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO RGD PMID:11436180 RGD:1642802 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name 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 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16531735 PMID:16838304 PMID:17264867 PMID:17449949 PMID:17525745 PMID:18247426 PMID:18552176 PMID:19610084 PMID:20301628 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name 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
PMID:1908846 PMID:7493034 PMID:7773297 PMID:8589699 PMID:8858131 PMID:8880573 PMID:9677066 PMID:9857065 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11426459 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:17875876 PMID:17935505 PMID:18583390 PMID:18642369 PMID:18976668 PMID:19165726 PMID:19381019 PMID:19749790 PMID:20199409 PMID:21536014 PMID:23437153 PMID:25157968 PMID:25326635 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28492532, PMID:7493034 RGD:11568032 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis
ClinVar Annotator: match by OMIM:125595
OMIM
ClinVar
PMID:1303619 PMID:8875963 PMID:16960809 PMID:25741868 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
Dowling-Degos disease term browser
Symbol Object Name 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 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
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 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:148,722,864...148,749,743
Ensembl chr 3:148,722,955...148,747,208
JBrowse link
G Poglut1 protein O-glucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:64,761,493...64,788,210
Ensembl chr11:64,761,146...64,788,208
JBrowse link
Dowling-Degos Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pofut1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by OMIM:615327
ClinVar Annotator: match by term: Dowling-Degos disease 2
OMIM
ClinVar
PMID:23684010 PMID:28492532 NCBI chr 3:148,722,864...148,749,743
Ensembl chr 3:148,722,955...148,747,208
JBrowse link
Dowling-Degos Disease 4 term browser
Symbol Object Name 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 chr11:64,761,493...64,788,210
Ensembl chr11:64,761,146...64,788,208
JBrowse link
familial progressive hyperpigmentation with or without hypopigmentation term browser
Symbol Object Name 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:15040480 PMID:15551335 PMID:19375057 PMID:21368769 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name 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 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:11463381 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:24033266 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Lentigo term browser
Symbol Object Name 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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
Melanosis term browser
Symbol Object Name 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 chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name 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 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
Noonan syndrome with multiple lentigines term browser
Symbol Object Name 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 PMID:23763990 PMID:24033266 PMID:25741868 PMID:28404629 PMID:28492532 PMID:30820351 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
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 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
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 1:80,271,288...80,290,946
Ensembl chr 1:80,279,706...80,290,408
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685670 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:exons:p.Y279C, p.T468M (human)
ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC
ClinVar Annotator: match by term: Cardiomyopathic lentiginosis
ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines
ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME
ClinVar Annotator: match by term: LEOPARD syndrome
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.Y279S, p.Q510P (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:151100
ClinVar
CTD
PMID:9491886 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12634870 PMID:12717436 PMID:12960218 PMID:14634749 PMID:14644997 PMID:14961557 PMID:14974085 PMID:14982869 PMID:15001945 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15385933 PMID:15389709 PMID:15470362 PMID:15520399 PMID:15539800 PMID:15690106 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15761018 PMID:15834506 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16078230 PMID:16124853 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16498234 PMID:16638574 PMID:16672235 PMID:16679933 PMID:16733669 PMID:16804314 PMID:17020470 PMID:17143285 PMID:17339163 PMID:17361219 PMID:17453145 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17603483 PMID:17661820 PMID:17875892 PMID:17935252 PMID:17972951 PMID:18241070 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18470943 PMID:18505544 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19077116 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19273734 PMID:19352411 PMID:19509418 PMID:19582499 PMID:19659470 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19825837 PMID:19864201 PMID:20308328 PMID:20493809 PMID:20535210 PMID:20578946 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21407260 PMID:21567923 PMID:21590266 PMID:21677813 PMID:21706501 PMID:21747628 PMID:21784453 PMID:21803945 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21934682 PMID:22058153 PMID:22190897 PMID:22315187 PMID:22411627 PMID:22465605 PMID:22488759 PMID:22528600 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22781091 PMID:22822385 PMID:22923420 PMID:23317994 PMID:23321623 PMID:23334668 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23799168 PMID:23813970 PMID:24033266 PMID:24037001 PMID:24183200 PMID:24401936 PMID:24451042 PMID:24628801 PMID:24718990 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24790373 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24935154 PMID:25097206 PMID:25231023 PMID:25326635 PMID:25326637 PMID:25359717 PMID:25395418 PMID:25500235 PMID:25544017 PMID:25585602 PMID:25595571 PMID:25612910 PMID:25708222 PMID:25724491 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25917897 PMID:25937001 PMID:26337637 PMID:26467025 PMID:26742426 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27069254 PMID:27153395 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:28051113 PMID:28074573 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28957739 PMID:29276006 PMID:29493581 PMID:29907801 PMID:30311386 PMID:30732632 PMID:31219622 PMID:32164556 PMID:32581362 PMID:32860008, PMID:12058348, PMID:15121796, PMID:15520399, PMID:21339643 RGD:1601571, RGD:11062587, RGD:11062391, RGD:11070277 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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:10064593 PMID:11447113 PMID:17603482 PMID:17603483 PMID:17603489 PMID:18241070 PMID:18505544 PMID:19568997 PMID:19933846 PMID:19953625 PMID:20052757 PMID:20679480 PMID:21339642 PMID:21440552 PMID:21784453 PMID:22389993 PMID:22826437 PMID:23312806 PMID:23321623 PMID:23877478 PMID:24033266 PMID:24775816 PMID:24803665 PMID:25706034 PMID:25741868 PMID:26619011 PMID:27763634 PMID:28492532 PMID:29084544 PMID:29493581 PMID:29948256 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 OMIM
ClinVar
PMID:9491886 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12634870 PMID:12717436 PMID:12900909 PMID:12960218 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15470362 PMID:15520399 PMID:15539800 PMID:15690106 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15761018 PMID:15834506 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16078230 PMID:16124853 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16533526 PMID:16638574 PMID:16672235 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16990350 PMID:17020470 PMID:17143285 PMID:17339163 PMID:17361219 PMID:17453145 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17661820 PMID:17875892 PMID:17935252 PMID:17972951 PMID:18241070 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18470943 PMID:18505544 PMID:18562489 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19077116 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19273734 PMID:19352411 PMID:19509418 PMID:19582499 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20186801 PMID:20308328 PMID:20493809 PMID:20535210 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21407260 PMID:21567923 PMID:21590266 PMID:21677813 PMID:21706501 PMID:21747628 PMID:21784453 PMID:21803945 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21934682 PMID:22058153 PMID:22190897 PMID:22315187 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22528600 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22781091 PMID:22822385 PMID:22923420 PMID:23312806 PMID:23317994 PMID:23321623 PMID:23334668 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23799168 PMID:23813970 PMID:24033266 PMID:24037001 PMID:24150203 PMID:24183200 PMID:24401936 PMID:24451042 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24935154 PMID:24939587 PMID:25097206 PMID:25231023 PMID:25326635 PMID:25326637 PMID:25359717 PMID:25363768 PMID:25383899 PMID:25395418 PMID:25500235 PMID:25544017 PMID:25585602 PMID:25595571 PMID:25612910 PMID:25708222 PMID:25722345 PMID:25724491 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25917897 PMID:25937001 PMID:26084119 PMID:26203125 PMID:26206283 PMID:26242988 PMID:26337637 PMID:26467025 PMID:26673822 PMID:26742426 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27069254 PMID:27153395 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:28051113 PMID:28074573 PMID:28125078 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28957739 PMID:29276006 PMID:29493581 PMID:29907801 PMID:30311386 PMID:30732632 PMID:31219622 PMID:32164556 PMID:32581362 PMID:32860008 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: LEOPARD syndrome 1 ClinVar NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124
JBrowse link
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name 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 4:147,514,041...147,532,086
Ensembl chr 4:147,514,120...147,532,084
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:9536098 PMID:10064593 PMID:10497893 PMID:14701845 PMID:17576681 PMID:17603482 PMID:17603483 PMID:17603486 PMID:17603489 PMID:18241070 PMID:18505544 PMID:18553519 PMID:19020799 PMID:19568997 PMID:19723757 PMID:19933846 PMID:19953625 PMID:20052757 PMID:20679480 PMID:20683980 PMID:21339642 PMID:21440552 PMID:21784453 PMID:22389993 PMID:22558107 PMID:22821648 PMID:22826437 PMID:23312806 PMID:23321623 PMID:23737487 PMID:23877478 PMID:23885229 PMID:24033266 PMID:24775816 PMID:25706034 PMID:25741868 PMID:26266034 PMID:26467173 PMID:26580448 PMID:26619011 PMID:26918529 PMID:28166811 PMID:28492532 PMID:29084544 PMID:29232918 PMID:29271604 PMID:29493581 PMID:29948256 PMID:31030682 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name 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 PMID:16439621 PMID:16474404 PMID:16619251 PMID:17344846 PMID:17366577 PMID:17551924 PMID:17703371 PMID:17704260 PMID:18042262 PMID:18413255 PMID:18456719 PMID:18470943 PMID:18854871 PMID:19206169 PMID:19376813 PMID:19416762 PMID:21784453 PMID:22190897 PMID:22301711 PMID:22495831 PMID:23312806 PMID:24033266 PMID:24088041 PMID:24409384 PMID:24719372 PMID:24728327 PMID:24775816 PMID:24920063 PMID:25035421 PMID:25741868 PMID:26242988 PMID:26260725 PMID:26472072 PMID:26530882 PMID:26580448 PMID:26633545 PMID:26848617 PMID:27322245 PMID:28404629 PMID:28492532 PMID:30290804 PMID:30581057 PMID:31560489 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
Peutz-Jeghers syndrome term browser
Symbol Object Name 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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,541,032...12,741,314
Ensembl chr 7:12,541,061...12,741,296
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,573,604...12,602,407
Ensembl chr 7:12,574,198...12,601,674
JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar NCBI chr 7:12,433,422...12,441,048
Ensembl chr 7:12,433,933...12,441,048
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,782,459...12,787,977
Ensembl chr 7:12,782,491...12,787,750
JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17934846 NCBI chr16:75,338,050...75,340,401
Ensembl chr16:75,338,052...75,340,360
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,764,993...12,771,310
Ensembl chr 7:12,764,993...12,771,310
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,619,739...12,632,241
Ensembl chr 7:12,542,713...12,632,298
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,532,785...12,536,797
Ensembl chr 7:12,532,895...12,536,791
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,611,476...12,618,586
Ensembl chr 7:12,611,468...12,618,586
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,471,805...12,515,700
Ensembl chr 7:12,471,824...12,518,654
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
PMID:9399902 PMID:9425897 PMID:9428765 PMID:9536098 PMID:9731485 PMID:9760200 PMID:9809980 PMID:9837816 PMID:9850045 PMID:9887330 PMID:9934767 PMID:10208439 PMID:10217080 PMID:10353780 PMID:10362809 PMID:10408777 PMID:10429655 PMID:10441497 PMID:10623683 PMID:10676634 PMID:10780518 PMID:10874301 PMID:11103790 PMID:11297520 PMID:11389158 PMID:11430832 PMID:12112668 PMID:12372054 PMID:12533684 PMID:12552571 PMID:12829253 PMID:12865922 PMID:14517248 PMID:14623934 PMID:14970844 PMID:14976552 PMID:15121768 PMID:15188174 PMID:15200509 PMID:15398245 PMID:15608654 PMID:15617552 PMID:15800014 PMID:15863673 PMID:15987703 PMID:16110486 PMID:16199547 PMID:16287113 PMID:16407375 PMID:16407837 PMID:16582077 PMID:16648371 PMID:16707622 PMID:17010210 PMID:17026623 PMID:17319781 PMID:17404884 PMID:17576681 PMID:17637250 PMID:17676035 PMID:17711506 PMID:17924967 PMID:18321849 PMID:18594528 PMID:18687677 PMID:18854309 PMID:18854318 PMID:19145097 PMID:19340305 PMID:19727776 PMID:19892943 PMID:20082862 PMID:20223037 PMID:20393878 PMID:20435009 PMID:20559149 PMID:20623358 PMID:20722467 PMID:21118512 PMID:21189378 PMID:21191700 PMID:21411391 PMID:21520333 PMID:21816872 PMID:22382802 PMID:22543132 PMID:22679258 PMID:22775437 PMID:22942091 PMID:23240097 PMID:23399955 PMID:23415580 PMID:23515270 PMID:23555315 PMID:23577667 PMID:23584481 PMID:23612973 PMID:23639312 PMID:23672593 PMID:23718779 PMID:23893923 PMID:23993471 PMID:24033266 PMID:24037887 PMID:24260271 PMID:24307375 PMID:24468202 PMID:24604241 PMID:24652667 PMID:24728327 PMID:24793789 PMID:24830819 PMID:24857785 PMID:25117502 PMID:25142776 PMID:25148578 PMID:25157968 PMID:25179843 PMID:25186627 PMID:25186949 PMID:25226294 PMID:25303977 PMID:25326637 PMID:25343854 PMID:25452441 PMID:25473901 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25742471 PMID:25841653 PMID:25980754 PMID:26010451 PMID:26056085 PMID:26080840 PMID:26123645 PMID:26164066 PMID:26225618 PMID:26295973 PMID:26319365 PMID:26354930 PMID:26386697 PMID:26430231 PMID:26467025 PMID:26517685 PMID:26580448 PMID:26607058 PMID:26692440 PMID:26837502 PMID:26845104 PMID:26887594 PMID:26898890 PMID:26928227 PMID:26976419 PMID:26979979 PMID:27043212 PMID:27081308 PMID:27153395 PMID:27300552 PMID:27311873 PMID:27443514 PMID:27550049 PMID:27615706 PMID:27621404 PMID:27696107 PMID:27821076 PMID:27852271 PMID:27978560 PMID:28135145 PMID:28152038 PMID:28166811 PMID:28185117 PMID:28196074 PMID:28199989 PMID:28202063 PMID:28231849 PMID:28303455 PMID:28492532 PMID:28521409 PMID:28560011 PMID:28577310 PMID:28640387 PMID:28724667 PMID:28767289 PMID:28821472 PMID:28873162 PMID:28944238 PMID:28977883 PMID:29325035 PMID:29338689 PMID:29368341 PMID:29399144 PMID:29458332 PMID:29470806 PMID:29496690 PMID:29641532 PMID:29785153 PMID:29973652 PMID:30092773 PMID:30093976 PMID:30287823 PMID:30306255 PMID:30334930 PMID:30374176 PMID:30455982 PMID:30528796 PMID:30594553 PMID:30669267 PMID:30982232 PMID:31159747 PMID:31217475 PMID:31269945 PMID:31422818 PMID:31592449 PMID:31712642 PMID:31775759 PMID:31871109 PMID:32566746 PMID:33193653 PMID:33248711 PMID:33272240 PMID:33309985 PMID:33471991, PMID:14511394 RGD:1600691 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,771,239...12,777,901
Ensembl chr 7:12,771,227...12,779,862
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 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532 NCBI chr 7:12,561,318...12,569,120
Ensembl chr 7:12,561,324...12,569,143
JBrowse link
reticulate acropigmentation of Kitamura term browser
Symbol Object Name 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 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    sensory system disease 5584
      skin disease 2945
        pigmentation disease 221
          Hyperpigmentation 46
            Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
            Dowling-Degos disease + 4
            Hyperkeratosis-Hyperpigmentation Syndrome 0
            Hyperpigmentation of Fuldauer and Kuijpers 0
            Melanosis + 38
            Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
            Patterson Pseudoleprechaunism Syndrome 0
            dermatopathia pigmentosa reticularis 1
            familial progressive hyperpigmentation with or without hypopigmentation 1
            hyperpigmentation of eyelid 0
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            pigmentation disease 221
              Hyperpigmentation 46
                Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 0
                Dowling-Degos disease + 4
                Hyperkeratosis-Hyperpigmentation Syndrome 0
                Hyperpigmentation of Fuldauer and Kuijpers 0
                Melanosis + 38
                Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
                Patterson Pseudoleprechaunism Syndrome 0
                dermatopathia pigmentosa reticularis 1
                familial progressive hyperpigmentation with or without hypopigmentation 1
                hyperpigmentation of eyelid 0
paths to the root