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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:pre-malignant neoplasm
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Accession:DOID:0060071 term browser browse the term
Definition:A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO)
Synonyms:exact_synonym: Precancerous Condition;   Preneoplastic Condition;   precancerous conditions;   preneoplastic conditions
 primary_id: MESH:D011230
For additional species annotation, visit the Alliance of Genome Resources.



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pre-malignant neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,016...130,887,675
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO associated with Colonic Neoplasms RGD PMID:24959250 RGD:11039027 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,230...34,795,549
JBrowse link
G ACY1 aminoacylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197
JBrowse link
G AKT1 AKT serine/threonine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724
JBrowse link
G ANXA4 annexin A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:69,643,808...69,827,112
Ensembl chr 2:69,644,425...69,827,112
JBrowse link
G AOPEP aminopeptidase O (putative) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:94,726,669...95,148,264
Ensembl chr 9:94,726,699...95,087,159
JBrowse link
G ARG1 arginase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:hepatocyte RGD PMID:11751435 RGD:1599367 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCAT2 branched chain amino acid transaminase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr19:48,795,064...48,811,029
Ensembl chr19:48,795,062...48,811,029
JBrowse link
G BID BH3 interacting domain death agonist treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr22:17,734,138...17,774,665
Ensembl chr22:17,734,138...17,774,770
JBrowse link
G CASP3 caspase 3 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP8 caspase 8 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CASP9 caspase 9 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCDC134 coiled-coil domain containing 134 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164
JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:23857431 RGD:10043364 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO
EXP
DNA:hypermethylation
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:24991542 PMID:12547284 RGD:1600820 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDX2 caudal type homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chr13:27,960,918...27,969,337
Ensembl chr13:27,960,918...27,969,315
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr19:33,299,934...33,302,564
Ensembl chr19:33,299,934...33,302,534
JBrowse link
G CFL1 cofilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
JBrowse link
G CHN2 chimerin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 7:29,146,547...29,514,335
Ensembl chr 7:29,146,569...29,514,328
JBrowse link
G CISH cytokine inducible SH2 containing protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 3:50,606,454...50,611,774
Ensembl chr 3:50,606,489...50,611,774
JBrowse link
G COG4 component of oligomeric golgi complex 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:178,237,616...178,590,393
Ensembl chr 5:178,237,476...178,590,393
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G DDX54 DEAD-box helicase 54 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:113,157,173...113,185,478
Ensembl chr12:113,157,173...113,185,479
JBrowse link
G DPP10 dipeptidyl peptidase like 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:114,442,641...115,845,780
Ensembl chr 2:114,442,299...115,845,780
JBrowse link
G EFNB2 ephrin B2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:106,489,745...106,535,662
Ensembl chr13:106,489,745...106,535,662
JBrowse link
G EGF epidermal growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 8:38,030,534...38,060,365
Ensembl chr 8:38,030,534...38,060,365
JBrowse link
G ERGIC3 ERGIC and golgi 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chr20:35,542,078...35,557,634
Ensembl chr20:35,542,038...35,557,634
JBrowse link
G EXOSC2 exosome component 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,704,894
JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FOXM1 forkhead box M1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chr12:2,857,680...2,877,174
Ensembl chr12:2,857,680...2,877,174
JBrowse link
G FTH1 ferritin heavy chain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
JBrowse link
G GJB1 gap junction protein beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:30537251 RGD:150520178 NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:30537251 RGD:150520178 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GSTA4 glutathione S-transferase alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20180811 NCBI chr 6:52,977,952...52,995,332
Ensembl chr 6:52,977,948...52,995,304
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTO1 glutathione S-transferase omega 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO
IAGP
EXP
associated with stomach disease
CTD Direct Evidence: marker/mechanism
associated with Metabolic Syndrome X
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:2563599 PMID:7585603 PMID:15526359 PMID:16332721 PMID:20188851 More... RGD:10401933, RGD:14700971, RGD:10401944, RGD:10401942 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP associated with stomach disease RGD PMID:28182092 RGD:14700971
G HADH hydroxyacyl-CoA dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,241
JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:176,388,751...176,389,761
Ensembl chr 5:176,388,751...176,389,761
JBrowse link
G HRAS HRas proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IFT88 intraflagellar transport 88 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chr13:20,566,446...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 EXP CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INSR insulin receptor ISO associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IRS1 insulin receptor substrate 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
JBrowse link
G KRT8 keratin 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:52,897,191...52,949,860
Ensembl chr12:52,897,187...52,949,954
JBrowse link
G MAGED4 MAGE family member D4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr  X:52,184,888...52,192,268
Ensembl chr  X:52,184,876...52,192,268
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr19:7,903,785...7,914,478
Ensembl chr19:7,903,843...7,914,478
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MAPK9 mitogen-activated protein kinase 9 ISO
EXP
associated with Liver Neoplasms, Experimental;protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21317887 PMID:18081878 RGD:2304231 NCBI chr 5:180,233,143...180,292,083
Ensembl chr 5:180,233,143...180,292,099
JBrowse link
G MDM2 MDM2 proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR125A microRNA 125a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MIR145 microRNA 145 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MIR151A microRNA 151a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 8:140,732,564...140,732,653
Ensembl chr 8:140,732,564...140,732,653
JBrowse link
G MIR196B microRNA 196b EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:27,169,480...27,169,563
Ensembl chr 7:27,169,480...27,169,563
JBrowse link
G MIR200B microRNA 200b EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
JBrowse link
G MIR211 microRNA 211 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr15:31,065,032...31,065,141
Ensembl chr15:31,065,032...31,065,141
JBrowse link
G MIR212 microRNA 212 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr17:2,050,271...2,050,380
Ensembl chr17:2,050,271...2,050,380
JBrowse link
G MIR26B microRNA 26b EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 2:218,402,646...218,402,722
Ensembl chr 2:218,402,646...218,402,722
JBrowse link
G MIR30A microRNA 30a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
JBrowse link
G MIR30D microRNA 30d EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 8:134,804,876...134,804,945
Ensembl chr 8:134,804,876...134,804,945
JBrowse link
G MIR324 microRNA 324 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr17:7,223,297...7,223,379
Ensembl chr17:7,223,297...7,223,379
JBrowse link
G MIR331 microRNA 331 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr12:95,308,420...95,308,513
Ensembl chr12:95,308,420...95,308,513
JBrowse link
G MIR338 microRNA 338 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr17:81,125,883...81,125,949
Ensembl chr17:81,125,883...81,125,949
JBrowse link
G MIR340 microRNA 340 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 5:180,015,303...180,015,397
Ensembl chr 5:180,015,303...180,015,397
JBrowse link
G MIR371A microRNA 371a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr19:53,787,675...53,787,741
Ensembl chr19:53,787,675...53,787,741
JBrowse link
G MIR409 microRNA 409 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr14:101,065,300...101,065,378
Ensembl chr14:101,065,300...101,065,378
JBrowse link
G MIR483 microRNA 483 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr11:2,134,134...2,134,209
Ensembl chr11:2,134,134...2,134,209
JBrowse link
G MIR652 microRNA 652 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:110,055,329...110,055,426
Ensembl chr  X:110,055,329...110,055,426
JBrowse link
G MIR92B microRNA 92b EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:155,195,177...155,195,272
Ensembl chr 1:155,195,177...155,195,272
JBrowse link
G MIR98 microRNA 98 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:53,556,223...53,556,341
Ensembl chr  X:53,556,223...53,556,341
JBrowse link
G MIR99B microRNA 99b EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr19:51,692,612...51,692,681
Ensembl chr19:51,692,612...51,692,681
JBrowse link
G MIRLET7B microRNA let-7b EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr22:46,113,686...46,113,768
Ensembl chr22:46,113,686...46,113,768
JBrowse link
G MIRLET7D microRNA let-7d EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 9:94,178,834...94,178,920
Ensembl chr 9:94,178,834...94,178,920
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:9850086 RGD:9685350 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G MPO myeloperoxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
JBrowse link
G MUC1 mucin 1, cell surface associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,513...35,404,749
JBrowse link
G NOP16 NOP16 nucleolar protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:176,383,937...176,388,606
Ensembl chr 5:176,383,938...176,388,927
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chr 1:161,229,666...161,238,623
Ensembl chr 1:161,229,666...161,238,244
JBrowse link
G PBLD phenazine biosynthesis like protein domain containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:68,282,660...68,332,958
Ensembl chr10:68,282,660...68,333,049
JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:118,136,124...118,145,584
Ensembl chr12:118,136,124...118,145,584
JBrowse link
G PHB1 prohibitin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,052...49,414,901
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 6:37,170,152...37,175,428
Ensembl chr 6:37,170,152...37,175,428
JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IEP RGD PMID:12021784 RGD:1599171 NCBI chr17:60,600,187...60,666,280
Ensembl chr17:60,600,183...60,666,280
JBrowse link
G PRDX1 peroxiredoxin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:64,092,236...64,445,476
Ensembl chr 3:64,092,236...64,445,476
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,379...40,798,374
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
JBrowse link
G PSCA prostate stem cell antigen EXP CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 8:142,670,297...142,682,725
Ensembl chr 8:142,670,308...142,682,725
JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:139,711,263...139,844,466
Ensembl chr 5:139,795,808...139,844,466
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G SERPINB3 serpin family B member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893
JBrowse link
G SFTPD surfactant protein D IEP protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chr10:79,937,740...79,982,236
Ensembl chr10:79,937,467...79,982,614
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:30537251 RGD:150520178 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIRPA signal regulatory protein alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr20:1,894,167...1,940,592
Ensembl chr20:1,894,167...1,940,592
JBrowse link
G SIX3 SIX homeobox 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SLC52A3 solute carrier family 52 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr20:760,080...775,985
Ensembl chr20:760,080...776,015
JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chr15:67,065,602...67,195,195
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:24680176 RGD:12903951 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:30537251 RGD:150520178 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SOCS4 suppressor of cytokine signaling 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr14:55,027,131...55,049,489
Ensembl chr14:55,027,230...55,049,489
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26297436 PMID:23596790 RGD:8694319 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5A signal transducer and activator of transcription 5A EXP CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr17:42,287,547...42,311,943
Ensembl chr17:42,287,547...42,311,943
JBrowse link
G SULF1 sulfatase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chr 8:69,466,624...69,660,912
Ensembl chr 8:69,466,624...69,660,915
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO RGD PMID:16497704 RGD:9586726 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016
JBrowse link
G TFF3 trefoil factor 3 ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409
JBrowse link
G TMEM132D transmembrane protein 132D EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:129,071,726...129,904,025
Ensembl chr12:129,071,725...129,904,025
JBrowse link
G TNK2 tyrosine kinase non receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:195,863,364...195,908,551
Ensembl chr 3:195,863,364...195,911,945
JBrowse link
G TP53 tumor protein p53 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21317887 PMID:28573231 RGD:14995494 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TPM4 tropomyosin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr19:16,067,507...16,103,005
Ensembl chr19:16,067,021...16,103,002
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:39,838,110...39,883,511
Ensembl chr 1:39,838,110...39,883,511
JBrowse link
G TSC2 TSC complex subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TTLL9 tubulin tyrosine ligase like 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr20:31,870,634...31,945,000
Ensembl chr20:31,870,702...31,944,963
JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr19:1,597,169...1,605,462
Ensembl chr19:1,597,169...1,605,473
JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G WSCD1 WSC domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:6,069,116...6,124,427
Ensembl chr17:6,057,807...6,124,427
JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:66,284,580...66,289,143
Ensembl chr11:66,284,580...66,289,145
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,288
JBrowse link
G ZBTB8OS zinc finger and BTB domain containing 8 opposite strand EXP CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:32,620,818...32,651,008
Ensembl chr 1:32,600,172...32,650,903
JBrowse link
Aberrant Crypt Foci term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway EXP CTD Direct Evidence: marker/mechanism CTD PMID:14507667 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO mRNA, protein:increased expression:colon, epithelial cell RGD PMID:1576709 PMID:8449605 RGD:13210754, RGD:13432056 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GCG glucagon EXP CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:23554136 RGD:13210771 NCBI chr 3:119,821,321...120,095,823
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IDA RGD PMID:23467982 RGD:13210776 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 IDA RGD PMID:23467982 RGD:13210776 NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:8449605 RGD:13432056 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G PTCH1 patched 1 IDA DNA:hypermethylation:colon RGD PMID:22945423 RGD:150520176 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G TGFB2 transforming growth factor beta 2 treatment ISO RGD PMID:17293967 RGD:13432080 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 IEP RGD PMID:22179182 RGD:13782258 NCBI chr10:93,073,475...93,077,885
Ensembl chr10:93,073,475...93,077,885
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein severity IAGP DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility IAGP DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr15:27,719,008...28,099,342
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP RGD PMID:9274625 RGD:7394827 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
adenocarcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCF FA complementation group F disease_progression IDA DNA:hypermethylation:promoter: RGD PMID:14647419 RGD:11049137 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
breast carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2R insulin like growth factor 2 receptor IAGP DNA:loss of heterozygosity RGD PMID:8649861 RGD:2311631 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
JBrowse link
cervix uteri carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 IEP protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr 8:38,996,767...39,105,261
Ensembl chr 8:38,996,754...39,105,445
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression IEP protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BRCA1 BRCA1 DNA repair associated IDA DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G CADM1 cell adhesion molecule 1 severity IEP RGD PMID:17009984 RGD:2289089 NCBI chr11:115,169,236...115,504,428
Ensembl chr11:115,169,218...115,504,957
JBrowse link
G CCND1 cyclin D1 IEP protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCNE1 cyclin E1 IEP protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CCNG1 cyclin G1 IEP protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 5:163,437,571...163,448,199
Ensembl chr 5:163,437,569...163,446,151
JBrowse link
G CD274 CD274 molecule severity IEP associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CD46 CD46 molecule IEP protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,054...207,795,513
JBrowse link
G CDH1 cadherin 1 IDA DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression IEP associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression IEP associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression IDA
IEP
DNA:hypermethylation
protein:increased expression:uterine cervix
RGD PMID:16778587 PMID:17415114 PMID:17910346 PMID:16406113 RGD:2296054, RGD:2289676, RGD:2289675, RGD:2296058 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IEP protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression IEP protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression IEP protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IEP protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G FASLG Fas ligand IEP associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G HDAC1 histone deacetylase 1 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 1:32,292,083...32,333,628
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC2 histone deacetylase 2 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HDAC6 histone deacetylase 6 IEP protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP associated with Papillomavirus Infections RGD PMID:15458897 PMID:10073700 PMID:18351579 RGD:2306232, RGD:2314703, RGD:2306230 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD PMID:14675666 PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IL1B interleukin 1 beta susceptibility IAGP associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MGP matrix Gla protein IEP RGD PMID:17960611 RGD:2293584 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MLH1 mutL homolog 1 IEP protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 3:36,993,487...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression IEP protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MSH2 mutS homolog 2 IEP protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PDCD1 programmed cell death 1 severity IEP associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr 2:241,849,881...241,858,908
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PHB1 prohibitin 1 IEP protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,052...49,414,901
JBrowse link
G POU4F1 POU class 4 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression IEP protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RB1 RB transcriptional corepressor 1 IEP associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression IEP protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G SKP2 S-phase kinase associated protein 2 severity IEP associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 5:36,152,067...36,184,319
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 disease_progression IEP associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr17:58,000,919...58,007,273
Ensembl chr17:58,000,919...58,007,346
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression IEP protein:increased expression:nucleus
protein:increased serine phosphorylation:cervix epithelium
RGD PMID:17110342 PMID:16005944 RGD:2291916, RGD:2298536 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TERC telomerase RNA component disease_progression IAGP DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase disease_progression IEP protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G THRB thyroid hormone receptor beta IAGP DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G TLR9 toll like receptor 9 disease_progression IEP protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TOP2A DNA topoisomerase II alpha IEP RGD PMID:19051821 RGD:2315126 NCBI chr17:40,388,525...40,417,902
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TP63 tumor protein p63 disease_progression IEP RGD PMID:16804722 RGD:2315435 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TP73 tumor protein p73 disease_progression IEP mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G XIAP X-linked inhibitor of apoptosis IEP protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,724...123,913,976
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 IAGP
EXP
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME ClinVar PMID:9443879 PMID:10196384 PMID:18414213 PMID:18628313 PMID:18784753 More... NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538
JBrowse link
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C3 aldo-keto reductase family 1 member C3 IEP protein:increased expression:myoepithelial cells: RGD PMID:16735089 RGD:10053629 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686
JBrowse link
G ANG angiogenin IEP protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G ANXA1 annexin A1 IEP protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G AR androgen receptor IEP RGD PMID:17543076 RGD:1643341 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G AREG amphiregulin IEP protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression IEP RGD PMID:12628841 RGD:2289659 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression IEP protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G BNIP3 BCL2 interacting protein 3 IEP RGD PMID:14648660 RGD:7483575 NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,966,455...131,982,013
JBrowse link
G BRCA1 BRCA1 DNA repair associated treatment ISO RGD PMID:25861310 RGD:127284854 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated onset
treatment
IAGP
ISO
DNA:missense mutation: :5972C>T RGD PMID:16280055 PMID:25861310 RGD:2289048, RGD:127284854 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CA9 carbonic anhydrase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 9:35,673,809...35,681,159
Ensembl chr 9:35,673,918...35,681,159
JBrowse link
G CASP6 caspase 6 IEP protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 4:109,688,628...109,703,445
Ensembl chr 4:109,688,622...109,703,583
JBrowse link
G CCND1 cyclin D1 IEP protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCND2 cyclin D2 IDA DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression IEP protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 disease_progression IEP protein:increased expression:breast RGD PMID:15788662 PMID:17119686 RGD:2289981, RGD:2289931 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IEP RGD PMID:9470844 RGD:2289952 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression IEP RGD PMID:15788662 RGD:2289981 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IEP mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IEP
EXP
protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20526721 PMID:16080559 RGD:2306227 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HOXB13 homeobox B13 IDA DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr17:48,724,763...48,728,750
Ensembl chr17:48,724,763...48,728,750
JBrowse link
G KLK10 kallikrein related peptidase 10 disease_progression IEP mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr19:51,012,739...51,020,097
Ensembl chr19:51,012,739...51,020,175
JBrowse link
G LDHB lactate dehydrogenase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr12:21,635,342...21,657,971
Ensembl chr12:21,635,342...21,757,857
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOTCH4 notch receptor 4 IMP RGD PMID:17440163 RGD:2299156 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IDA RGD PMID:22886747 RGD:7775026 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,857...196,832,647
JBrowse link
G PGR progesterone receptor disease_progression IEP RGD PMID:12628841 RGD:2289659 NCBI chr11:101,029,624...101,130,681
Ensembl chr11:101,029,624...101,129,813
JBrowse link
G PRKCA protein kinase C alpha IEP protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
JBrowse link
G PTGES prostaglandin E synthase IEP protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression IEP mRNA, protein:decreased expression:breast RGD PMID:18199541 PMID:18237383 RGD:2300203, RGD:2300199 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTK2 protein tyrosine kinase 2 IEP protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
JBrowse link
G RB1 RB transcriptional corepressor 1 IEP mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G SLC2A1 solute carrier family 2 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IEP mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOCS2 suppressor of cytokine signaling 2 IEP mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr12:93,569,849...93,626,236
Ensembl chr12:93,569,814...93,583,487
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 IEP mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase severity IDA protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr20:37,344,690...37,406,050
Ensembl chr20:37,344,685...37,406,050
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IEP protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362
JBrowse link
G STAT5A signal transducer and activator of transcription 5A IEP
EXP
protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism
protein:decreased expression:breast
CTD
RGD
PMID:15609129 PMID:15609129 PMID:16133357 RGD:2291932, RGD:2291930 NCBI chr17:42,287,547...42,311,943
Ensembl chr17:42,287,547...42,311,943
JBrowse link
G TERT telomerase reverse transcriptase IEP mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFF1 trefoil factor 1 IEP RGD PMID:15375487 RGD:2292005 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 IEP protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G TOP2A DNA topoisomerase II alpha severity IEP protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr17:40,388,525...40,417,902
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TP53 tumor protein p53 IEP
IAGP
protein:increased expression:breast
ClinVar Annotator: match by term: Ductal carcinoma in situ
ClinVar
RGD
PMID:1565143 PMID:1683921 PMID:7887414 PMID:9242456 PMID:9569050 More... RGD:2289931 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TYMP thymidine phosphorylase IEP RGD PMID:9306962 RGD:2293726 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
in situ carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO associated with Pancreatic Neoplasms RGD PMID:19880966 RGD:2325208 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IEP ductal carcinoma in situ;protein:increased phosphorylation:breast RGD PMID:16341149 RGD:1643333 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP RGD PMID:16024599 RGD:2317522 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IEP associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chr 1:21,508,984...21,578,412
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G ANGPT1 angiopoietin 1 ISO associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
JBrowse link
G CASP1 caspase 1 IEP associated with Carcinoma, Lobular RGD PMID:17375183 RGD:2298754 NCBI chr11:105,025,443...105,035,591
Ensembl chr11:105,025,443...105,035,250
JBrowse link
G CCNB1 cyclin B1 IEP associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IEP associated with Bladder Neoplasms;protein:increased expression:urinary bladder RGD PMID:18234280 RGD:2296048 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CTNNB1 catenin beta 1 IEP protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G ESR1 estrogen receptor 1 IEP protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 IEP protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human) RGD PMID:8649861 RGD:2311631 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 IEP testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr12:53,097,667...53,102,340
Ensembl chr12:53,097,436...53,102,345
JBrowse link
G MKI67 marker of proliferation Ki-67 IEP associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IEP mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PDPN podoplanin IEP mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G POU5F1 POU class 5 homeobox 1 IEP associated with Testicular Neoplasms;protein:increased expression:semen RGD PMID:17996359 RGD:2292428 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731
JBrowse link
G PTEN phosphatase and tensin homolog IEP associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTGES prostaglandin E synthase IEP protein:increased expression:urinary bladder
protein:increased expression:penis, skin
RGD PMID:14499677 PMID:14871981 RGD:2300088, RGD:2300087 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO
EXP
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreas
CTD
RGD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777 RGD:2317187, RGD:2317186 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RB1 RB transcriptional corepressor 1 IEP protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RUNX3 RUNX family transcription factor 3 IDA associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter RGD PMID:19763613 RGD:2324958 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SFN stratifin IEP mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
JBrowse link
G SFRP1 secreted frizzled related protein 1 IEP testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr 8:41,261,962...41,309,473
Ensembl chr 8:41,261,962...41,309,473
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
JBrowse link
G ZNF354A zinc finger protein 354A IEP mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr 5:178,711,512...178,730,659
Ensembl chr 5:178,711,512...178,730,659
JBrowse link
Leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTTN cortactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:27148699 NCBI chr11:70,398,529...70,436,579
Ensembl chr11:70,398,404...70,436,584
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:14735473 RGD:14701001 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP RGD PMID:16475728 RGD:14701002
mammary Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP DNA:amplification RGD PMID:16932067 RGD:2289933 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
oral cavity carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUF2 NUF2 component of NDC80 kinetochore complex disease_progression IEP RGD PMID:27499128 RGD:28867233 NCBI chr 1:163,321,948...163,355,764
Ensembl chr 1:163,266,576...163,355,764
JBrowse link
oral mucosa leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase severity IEP protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 PMID:18288488 RGD:150340604, RGD:150340709 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility IAGP
IEP
DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 PMID:10873097 RGD:8662371, RGD:8662371 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:polymorphism:cds:p.K751Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:18507060 RGD:14700975 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP RGD PMID:18507060 RGD:14700975
G H2AX H2A.X variant histone disease_progression IEP protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,854...119,095,467
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr 8:18,386,585...18,401,219
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G TP53 tumor protein p53 IEP
ISO
protein:increased expression:oral mucosa:
protein:increased expression:tongue:
RGD PMID:23776093 PMID:12167434 RGD:8547855, RGD:8547871 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:polymorphism,haplotye:cds:p.R399Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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 IAGP ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar
OMIM
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 TAS RGD PMID:22824526 RGD:7246919 NCBI chr 6:158,168,316...158,199,344
Ensembl chr 6:158,168,350...158,199,344
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
JBrowse link
prostate carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase disease_progression IEP RGD PMID:18343427 RGD:2315630 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G ANG angiogenin ISO RGD PMID:19276260 RGD:2325697 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 IEP protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
JBrowse link
G AR androgen receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G AREG amphiregulin IEP protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
JBrowse link
G ATM ATM serine/threonine kinase IEP protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G AURKA aurora kinase A IEP protein:increased expression:prostate gland RGD PMID:15754349 PMID:16707419 RGD:2293883, RGD:2293877 NCBI chr20:56,369,390...56,392,308
Ensembl chr20:56,369,389...56,392,337
JBrowse link
G AURKB aurora kinase B IEP RGD PMID:16707419 RGD:2293877 NCBI chr17:8,204,731...8,210,767
Ensembl chr17:8,204,733...8,210,600
JBrowse link
G BTG2 BTG anti-proliferation factor 2 IEP protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chr 1:203,305,519...203,309,602
Ensembl chr 1:203,305,491...203,309,602
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 IEP protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chr19:10,871,553...10,923,078
Ensembl chr19:10,871,553...10,923,075
JBrowse link
G CCND1 cyclin D1 ISO mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCNE1 cyclin E1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IEP
EXP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:20932324 PMID:18691549 RGD:2299085 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 severity IEP RGD PMID:17270658 RGD:13504714 NCBI chr 1:153,967,487...153,974,364
Ensembl chr 1:153,967,534...153,974,361
JBrowse link
G CSF1R colony stimulating factor 1 receptor IEP protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IMP RGD PMID:19700748 RGD:7257711 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G DNMT1 DNA methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G ESR1 estrogen receptor 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FGF6 fibroblast growth factor 6 IEP protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chr12:4,434,142...4,445,815
Ensembl chr12:4,428,155...4,445,815
JBrowse link
G FGF8 fibroblast growth factor 8 IMP RGD PMID:12208767 RGD:2301097 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:18068632 RGD:2298702 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:14695195 RGD:2301192 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G FZD4 frizzled class receptor 4 IEP protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22581815 PMID:24312188 RGD:10401940 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HDAC1 histone deacetylase 1 IEP protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chr 1:32,292,083...32,333,628
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19117991 RGD:2314913 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 IEP RGD PMID:27067790 RGD:11531513 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
G LRP1 LDL receptor related protein 1 ISO protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chr12:57,128,401...57,213,377
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 disease_progression IEP protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr17:12,020,822...12,143,828
Ensembl chr17:12,020,829...12,143,830
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 disease_progression IEP protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 disease_progression IEP protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr19:7,903,785...7,914,478
Ensembl chr19:7,903,843...7,914,478
JBrowse link
G MT2A metallothionein 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16574721 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:10861747 RGD:10059615 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G PHB1 prohibitin 1 IEP mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,052...49,414,901
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chr 6:37,170,152...37,175,428
Ensembl chr 6:37,170,152...37,175,428
JBrowse link
G PRSS8 serine protease 8 disease_progression IEP mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chr16:31,131,433...31,135,727
Ensembl chr16:31,131,433...31,135,727
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19081794 PMID:22581815 PMID:18268330 RGD:2292497 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IEP
ISO
protein:increased expression:prostate gland RGD PMID:16278667 PMID:15570007 RGD:2298767, RGD:2298769 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G RXRA retinoid X receptor alpha ISO protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SLC30A4 solute carrier family 30 member 4 IEP protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chr15:45,479,606...45,523,755
Ensembl chr15:45,479,606...45,522,755
JBrowse link
G SMAD4 SMAD family member 4 IEP protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IEP protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362
JBrowse link
G STK11 serine/threonine kinase 11 ISO RGD PMID:18381428 RGD:2291943 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 IEP RGD PMID:16940965 RGD:2290433 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G TOP2B DNA topoisomerase II beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr 3:25,597,905...25,664,907
Ensembl chr 3:25,597,984...25,664,907
JBrowse link
G TP63 tumor protein p63 IEP
ISO
protein:decreased expression:prostate gland
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22581815 PMID:17189982 PMID:17982114 RGD:2315434, RGD:2315433 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Squamous Intraepithelial Lesions of the Cervix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 severity IAGP DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
Uterine Cervical Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) RGD PMID:16803516 RGD:36049759 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:7951246 PMID:11841555 PMID:23370536 PMID:24033266 PMID:24700531 More... NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994
JBrowse link
G DDB1 damage specific DNA binding protein 1 TAS RGD PMID:22824526 RGD:7246919 NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596
JBrowse link
G DDB2 damage specific DNA binding protein 2 susceptibility IAGP DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
RGD
PMID:8798680 RGD:1601050 NCBI chr11:47,214,969...47,239,218
Ensembl chr11:47,214,465...47,239,217
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP 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 chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP
TAS
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 chr 2:127,257,290...127,294,166
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP
TAS
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 chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease TAS
IAGP
ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD
PMID:7951246 PMID:11841555 PMID:23370536 PMID:24033266 PMID:24700531 More... RGD:7246919 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G GTPBP2 GTP binding protein 2 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 6:43,620,492...43,631,309
Ensembl chr 6:43,605,316...43,629,264
JBrowse link
G KLC3 kinesin light chain 3 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr19:45,340,750...45,351,548
Ensembl chr19:45,333,434...45,351,520
JBrowse link
G POLH DNA polymerase eta IAGP
EXP
ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17344931 PMID:18368133 PMID:18703314 PMID:22745795 PMID:24033266 More... NCBI chr 6:43,576,147...43,620,523
Ensembl chr 6:43,576,185...43,620,523
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:25741868 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G TERF2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr16:69,355,567...69,386,007
Ensembl chr16:69,355,567...69,408,571
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TP53 tumor protein p53 IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G XPA XPA, DNA damage recognition and repair factor IEA
IAGP
EXP
TAS
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 9:97,654,398...97,697,403
Ensembl chr 9:97,674,909...97,697,340
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP
EXP
TAS
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 3:14,145,145...14,178,601
Ensembl chr 3:14,145,147...14,178,621
JBrowse link
Xeroderma Pigmentosum G / Cockayne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex
ClinVar PMID:11228268 PMID:25741868 NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP 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 chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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 IAGP 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 Annotator: match by term: Xeroderma pigmentosum, complementation group A
ClinVar
OMIM
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1702221 More... NCBI chr 9:97,654,398...97,697,403
Ensembl chr 9:97,674,909...97,697,340
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP ClinVar Annotator: match by term: XP, group A ClinVar PMID:26227012 NCBI chr 3:14,145,145...14,178,601
Ensembl chr 3:14,145,147...14,178,621
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 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group b ClinVar
OMIM
PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr 2:127,257,290...127,294,166
Ensembl chr 2:127,257,290...127,294,166
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 IAGP 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 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar
OMIM
PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:12177305 More... NCBI chr 3:14,145,145...14,178,601
Ensembl chr 3:14,145,147...14,178,621
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 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar Annotator: match by term: XP, GROUP H
ClinVar
OMIM
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G KLC3 kinesin light chain 3 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr19:45,340,750...45,351,548
Ensembl chr19:45,333,434...45,351,520
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 IAGP
EXP
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group E
ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10469312 PMID:10585395 PMID:12812979 PMID:21107348 PMID:24728327 More... NCBI chr11:47,214,969...47,239,218
Ensembl chr11:47,214,465...47,239,217
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 IAGP 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/Cockayne syndrome
ClinVar
OMIM
PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: XP, GROUP G
ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
ClinVar PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ClinVar Annotator: match by term: XP, GROUP G
ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
ClinVar
OMIM
PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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 IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum, variant type
ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
ClinVar
OMIM
PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 More... NCBI chr 6:43,576,147...43,620,523
Ensembl chr 6:43,576,185...43,620,523
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 More... NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
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 chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar
OMIM
PMID:8797827 PMID:9579555 PMID:15886521 PMID:17183314 PMID:20221251 More... NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20297
    disease of cellular proliferation 8122
      pre-malignant neoplasm 302
        Aberrant Crypt Foci 10
        Erythroplasia 0
        Leukoplakia + 12
        Lymphomatoid Granulomatosis 0
        Preleukemias 0
        Uterine Cervical Dysplasia + 2
        actinic keratosis + 4
        conjunctival intraepithelial neoplasm + 0
        in situ carcinoma + 144
        xeroderma pigmentosum + 21
paths to the root