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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP associated with Colonic Neoplasms RGD PMID:24959250 RGD:11039027 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
JBrowse link
G Acy1 aminoacylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 8:107,072,354...107,077,756
Ensembl chr 8:107,072,358...107,077,682
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:151,880,002...151,905,491 JBrowse link
G Anxa4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:119,184,378...119,241,183
Ensembl chr 4:119,184,374...119,241,161
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Atm ATM serine/threonine kinase IEP protein:decreased expression:hepatocyte RGD PMID:11751435 RGD:1599367 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcat2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:96,040,407...96,060,008
Ensembl chr 1:96,042,625...96,060,007
JBrowse link
G Bid BH3 interacting domain death agonist treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
JBrowse link
G Casp3 caspase 3 treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment IEP RGD PMID:23857431 RGD:10043364 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IDA
ISO
DNA:hypermethylation
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:24991542 PMID:12547284 RGD:1600820 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdx2 caudal type homeo box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Chn2 chimerin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:83,148,616...83,407,711
Ensembl chr 4:83,147,983...83,407,709
JBrowse link
G Cish cytokine inducible SH2-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
JBrowse link
G Col23a1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:35,549,090...35,839,152
Ensembl chr10:35,549,113...35,836,314
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:35,934,713...35,949,956
Ensembl chr12:35,934,716...35,972,523
JBrowse link
G Dpp10 dipeptidyl peptidase like 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:34,584,420...36,269,619
Ensembl chr13:34,595,868...36,269,292
JBrowse link
G Efnb2 ephrin B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
JBrowse link
G Ergic3 ERGIC and golgi 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chr 3:144,525,059...144,534,813
Ensembl chr 3:144,525,092...144,534,813
JBrowse link
G Exosc2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
JBrowse link
G Fas Fas cell surface death receptor treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Foxm1 forkhead box M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chr 4:161,639,561...161,652,012
Ensembl chr 4:161,638,816...161,650,684
JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gli1 GLI family zinc finger 1 IEP RGD PMID:30537251 RGD:150520178 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Gli3 GLI family zinc finger 3 IEP RGD PMID:30537251 RGD:150520178 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20180811 NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment IEP
ISO
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 chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
JBrowse link
G Higd2a HIG1 hypoxia inducible domain family, member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:10,021,853...10,022,777
Ensembl chr17:10,021,859...10,022,796
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Insr insulin receptor IEP associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
JBrowse link
G Krt8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr12:2,591,312...2,604,211
Ensembl chr12:2,591,219...2,604,222
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 IEP
ISO
associated with Liver Neoplasms, Experimental;protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21317887 PMID:18081878 RGD:2304231 NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir125a microRNA 125a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Mir151 microRNA 151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:105,172,377...105,172,473 JBrowse link
G Mir196b microRNA 196b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 4:81,330,487...81,330,571 JBrowse link
G Mir200b microRNA 200b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir211 microRNA 211 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
JBrowse link
G Mir212 microRNA 212 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr10:60,023,403...60,023,513
Ensembl chr10:60,023,403...60,023,513
JBrowse link
G Mir26b microRNA 26b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
JBrowse link
G Mir290 microRNA 290 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:65,964,648...65,964,728
Ensembl chr 1:65,964,648...65,964,728
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:100,136,391...100,136,472
Ensembl chr 7:100,136,391...100,136,472
JBrowse link
G Mir324 microRNA 324 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr10:54,734,680...54,734,762
Ensembl chr10:54,734,678...54,734,766
JBrowse link
G Mir331 microRNA 331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:28,527,390...28,527,485
Ensembl chr 7:28,527,390...28,527,485
JBrowse link
G Mir347 microRNA mir-347 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526
G Mir349 microRNA 349 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:120,243,311...120,243,407
Ensembl chr 7:120,243,311...120,243,407
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 6:128,757,780...128,757,856 JBrowse link
G Mir652 microRNA 652 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:106,343,293...106,343,373
Ensembl chr  X:106,343,293...106,343,373
JBrowse link
G Mir92b microRNA 92b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 2:174,633,890...174,633,972
Ensembl chr 2:174,633,890...174,633,972
JBrowse link
G Mir98 microRNA 98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:20,981,235...20,981,342
Ensembl chr  X:20,981,235...20,981,342
JBrowse link
G Mir99b microRNA 99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:58,677,015...58,677,084
Ensembl chr 1:58,677,011...58,677,090
JBrowse link
G Mirlet7b microRNA let-7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270
JBrowse link
G Mirlet7d microRNA let-7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:9850086 RGD:9685350 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nop16 NOP16 nucleolar protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:10,022,950...10,027,867
Ensembl chr17:10,022,932...10,027,867
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
JBrowse link
G Pbld1 phenazine biosynthesis-like protein domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr20:25,551,274...25,566,543
Ensembl chr20:25,551,275...25,565,614
JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:39,302,864...39,307,064
Ensembl chr12:39,302,840...39,307,862
JBrowse link
G Phb1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO RGD PMID:12021784 RGD:1599171 NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:124,869,552...125,214,862
Ensembl chr 4:124,869,552...125,214,824
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:228,409,883...229,638,794 JBrowse link
G Psca prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746
JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr18:27,564,912...27,616,674
Ensembl chr18:27,565,587...27,616,672
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:30537251 RGD:150520178 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Sirpa signal-regulatory protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 3:116,819,730...116,858,099
Ensembl chr 3:116,819,726...116,858,098
JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:9,040,123...9,043,336
Ensembl chr 6:9,036,434...9,053,301
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
JBrowse link
G Smad3 SMAD family member 3 IDA protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smad4 SMAD family member 4 treatment IEP RGD PMID:24680176 RGD:12903951 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smo smoothened, frizzled class receptor IEP RGD PMID:30537251 RGD:150520178 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Socs4 suppressor of cytokine signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr15:20,523,406...20,537,889
Ensembl chr15:20,523,183...20,542,494
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26297436 PMID:23596790 RGD:8694319 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
JBrowse link
G Sulf1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chr 5:6,362,896...6,526,174
Ensembl chr 5:6,362,911...6,525,584
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase IEP RGD PMID:16497704 RGD:9586726 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Tff3 trefoil factor 3 IEP protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:28,270,039...28,917,324
Ensembl chr12:28,270,712...28,915,374
JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
JBrowse link
G Tp53 tumor protein p53 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21317887 PMID:28573231 RGD:14995494 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984
JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:135,293,472...135,341,522
Ensembl chr 5:135,295,330...135,338,764
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Ttll9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:141,429,351...141,475,965
Ensembl chr 3:141,429,444...141,475,865
JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wscd1 WSC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr10:56,385,858...56,426,442
Ensembl chr10:56,395,874...56,424,677
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427
JBrowse link
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr11:57,052,129...57,823,679
Ensembl chr11:57,072,880...57,510,210
JBrowse link
G Zbtb8os zinc finger and BTB domain containing 8 opposite strand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:141,675,502...141,687,148
Ensembl chr 5:141,675,857...141,688,660
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14507667 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP
IDA
mRNA, protein:increased expression:colon, epithelial cell RGD PMID:1576709 PMID:8449605 RGD:13210754, RGD:13432056 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chr 3:47,113,914...47,122,929
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:23554136 RGD:13210771 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO RGD PMID:23467982 RGD:13210776 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO RGD PMID:23467982 RGD:13210776 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:8449605 RGD:13432056 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Ptch1 patched 1 ISO DNA:hypermethylation:colon RGD PMID:22945423 RGD:150520176 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Tgfb2 transforming growth factor, beta 2 treatment IEP RGD PMID:17293967 RGD:13432080 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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, polypeptide 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204
JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 ISO DNA:hypermethylation:promoter: RGD PMID:14647419 RGD:11049137 NCBI chr 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923
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 ISO DNA:loss of heterozygosity RGD PMID:8649861 RGD:2311631 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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 ISO protein:increased expression:uterine cervix RGD PMID:19473694 RGD:2325246 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
JBrowse link
G Cd274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr13:106,575,586...106,606,325 JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO protein:increased expression:uterine cervix
DNA:hypermethylation
RGD PMID:16406113 PMID:17415114 PMID:17910346 PMID:16778587 RGD:2296058, RGD:2289676, RGD:2289675, RGD:2296054 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO protein:increased expression
protein:increased expression:uterine cervix
RGD PMID:17910346 PMID:17415114 RGD:2289675, RGD:2289676
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis RGD PMID:15221964 RGD:2306812 NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:14675666 PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Pdcd1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Phb1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO associated with Papillomavirus Infections RGD PMID:18351579 PMID:15458897 PMID:10073700 RGD:2306230, RGD:2306232, RGD:2314703 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Skp2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 disease_progression ISO associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) RGD PMID:19718710 RGD:11039410 NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus
RGD PMID:16005944 PMID:17110342 RGD:2298536, RGD:2291916 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Terc telomerase RNA component disease_progression ISO DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
JBrowse link
G Tlr9 toll-like receptor 9 disease_progression ISO RGD PMID:17440926 RGD:2301099 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Top2a DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
JBrowse link
G Tp63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
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 ISO protein:increased expression:myoepithelial cells: RGD PMID:16735089 RGD:10053629 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
JBrowse link
G Ang angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Anxa1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Ar androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Areg amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
JBrowse link
G Brca1 BRCA1, DNA repair associated treatment IEP RGD PMID:25861310 RGD:127284854 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brca2 BRCA2, DNA repair associated onset
treatment
ISO
IEP
DNA:missense mutation: :5972C>T RGD PMID:16280055 PMID:25861310 RGD:2289048, RGD:127284854 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Casp6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
JBrowse link
G Ccnd1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO protein:increased expression:breast RGD PMID:15788662 PMID:17119686 RGD:2289981, RGD:2289931 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20526721 PMID:16080559 RGD:2306227 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hoxb13 homeo box B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777
JBrowse link
G Klk10 kallikrein related-peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr 1:94,234,536...94,239,369
Ensembl chr 1:94,235,096...94,239,376
JBrowse link
G Ldhb lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816
JBrowse link
G Pgr progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Prkca protein kinase C, alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA, protein:decreased expression:breast RGD PMID:18199541 PMID:18237383 RGD:2300203, RGD:2300199 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO 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 chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tff1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr10:103,541,199...103,590,611 JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
G Top2a DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
JBrowse link
G Tp53 tumor protein p53 ISO 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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ductal carcinoma in situ;protein:increased phosphorylation:breast RGD PMID:16341149 RGD:1643333 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:16024599 RGD:2317522 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Angpt1 angiopoietin 1 IEP associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
JBrowse link
G Casp1 caspase 1 ISO associated with Carcinoma, Lobular RGD PMID:17375183 RGD:2298754 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Ccnb1 cyclin B1 ISO associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Bladder Neoplasms;protein:increased expression:urinary bladder RGD PMID:18234280 RGD:2296048 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Esr1 estrogen receptor 1 ISO protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 ISO protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human) RGD PMID:8649861 RGD:2311631 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO testicular CIS; mRNA:increased expression:tumor (human) RGD PMID:15123780 RGD:2301712 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pdpn podoplanin ISO mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO associated with Testicular Neoplasms;protein:increased expression:semen RGD PMID:17996359 RGD:2292428 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
JBrowse link
G Pten phosphatase and tensin homolog ISO associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:urinary bladder
protein:increased expression:penis, skin
RGD PMID:14499677 PMID:14871981 RGD:2300088, RGD:2300087 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreas
CTD
RGD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777 RGD:2317187, RGD:2317186 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter RGD PMID:19763613 RGD:2324958 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Sfn stratifin ISO mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 Ensembl chr 5:145,826,201...145,831,314 JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO testicular CIS; mRNA:increased expression:tumor (human) RGD PMID:15123780 RGD:2301712 NCBI chr16:68,575,763...68,613,905
Ensembl chr16:68,575,763...68,614,286
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 IDA associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
G Zfp354a zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr10:35,396,242...35,408,065
Ensembl chr10:35,396,231...35,408,068
JBrowse link
Leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cttn cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27148699 NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:14735473 RGD:14701001 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:16475728 RGD:14701002 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
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 ISO DNA:amplification RGD PMID:16932067 RGD:2289933 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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 ISO RGD PMID:27499128 RGD:28867233 NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
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 ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 PMID:18288488 RGD:150340604, RGD:150340709 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 PMID:10873097 RGD:8662371, RGD:8662371 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:cds:p.K751Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H2ax H2A.X variant histone disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Tp53 tumor protein p53 ISO
IEP
IMP
protein:increased expression:oral mucosa:
protein:increased expression:tongue:
DNA:mutations:cds:
RGD PMID:23776093 PMID:12167434 PMID:12167434 RGD:8547855, RGD:8547871, RGD:8547871 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism,haplotye:cds:p.R399Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
JBrowse link
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 ISO RGD PMID:18343427 RGD:2315630 NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Ang angiogenin ISO RGD PMID:19276260 RGD:2325697 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Areg amphiregulin ISO protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Aurka aurora kinase A ISO protein:increased expression:prostate gland RGD PMID:15754349 PMID:16707419 RGD:2293883, RGD:2293877 NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
JBrowse link
G Aurkb aurora kinase B ISO RGD PMID:16707419 RGD:2293877 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccne1 cyclin E1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:20932324 PMID:18691549 RGD:2299085 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 severity ISO RGD PMID:17270658 RGD:13504714 NCBI chr 2:175,690,340...175,696,084
Ensembl chr 2:175,690,335...175,695,932
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:19700748 RGD:7257711 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Esr1 estrogen receptor 1 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO RGD PMID:12208767 RGD:2301097 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:18068632 RGD:2298702 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:14695195 RGD:2301192 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Fzd4 frizzled class receptor 4 ISO protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Gstp1 glutathione S-transferase pi 1 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22581815 PMID:24312188 RGD:10401940 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:19117991 RGD:2314913 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:27067790 RGD:11531513 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
JBrowse link
G Lrp1 LDL receptor related protein 1 IEP protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr12:2,591,312...2,604,211
Ensembl chr12:2,591,219...2,604,222
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16574721 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:10861747 RGD:10059615 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Phb1 prohibitin 1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
JBrowse link
G Prss8 serine protease 8 disease_progression ISO mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19081794 PMID:22581815 PMID:18268330 RGD:2292497 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:prostate gland RGD PMID:16278667 PMID:15570007 RGD:2298767, RGD:2298769 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Rxra retinoid X receptor alpha IEP protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Stk11 serine/threonine kinase 11 ISO RGD PMID:18381428 RGD:2291943 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:16940965 RGD:2290433 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
G Top2b DNA topoisomerase II beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr15:9,051,661...9,111,220
Ensembl chr15:9,051,341...9,112,085
JBrowse link
G Tp63 tumor protein p63 ISO protein:decreased expression:prostate gland
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22581815 PMID:17189982 PMID:17982114 RGD:2315434, RGD:2315433 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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 ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
Uterine Cervical Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) RGD PMID:16803516 RGD:36049759 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
JBrowse link
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
RGD
PMID:8798680 RGD:1601050 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
RGD
PMID:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 More... RGD:1601068 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD
PMID:25741868 PMID:26023681 PMID:27004399 PMID:27153395 PMID:27356891 More... RGD:1598912, RGD:7246919 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO DNA:deletion, point mutation:2281delTCTC, p.R788W
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
RGD
PMID:25741868 PMID:8797827 PMID:22824526 RGD:1601093, RGD:7246919 NCBI chr10:2,416,259...2,448,364 JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD
PMID:7951246 PMID:11841555 PMID:23370536 PMID:24033266 PMID:24700531 More... RGD:7246919 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
JBrowse link
G Polh DNA polymerase eta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD
ClinVar
PMID:17344931 PMID:18368133 PMID:18703314 PMID:22745795 PMID:24033266 More... NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:25741868 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1372102 PMID:1372103 PMID:1702221 PMID:2234061 PMID:7876263 More... RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10766188 PMID:11511294 PMID:15654957 PMID:16081512 PMID:16199547 More... RGD:1599878, RGD:7246919 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
Xeroderma Pigmentosum G / Cockayne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group g/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex
ClinVar PMID:2478446 PMID:8317483 PMID:11228268 PMID:25741868 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XP, group A
ClinVar Annotator: match by term: Xeroderma pigmentosum group A
ClinVar Annotator: match by term: XP, GROUP A
ClinVar
OMIM
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1702221 More... NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XP, group A ClinVar PMID:26227012 NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group b
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610651
OMIM
ClinVar
PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar Annotator: match by OMIM:278720
OMIM
ClinVar
PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:12177305 More... NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar Annotator: match by OMIM:278730
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
JBrowse link
xeroderma pigmentosum group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group E
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:278740
OMIM
ClinVar
CTD
PMID:10469312 PMID:10585395 PMID:12812979 PMID:21107348 PMID:24728327 More... NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar Annotator: match by term: Xeroderma pigmentosum, type f/Cockayne syndrome
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F
ClinVar Annotator: match by OMIM:278760
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM
ClinVar
PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr10:2,416,259...2,448,364 JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
ClinVar Annotator: match by OMIM:278780
OMIM
ClinVar
PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
ClinVar Annotator: match by term: Xeroderma pigmentosum, variant type
ClinVar Annotator: match by OMIM:278750
OMIM
ClinVar
PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 More... NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISS OMIM:610965 MouseDO NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome
ClinVar Annotator: match by OMIM:610965
OMIM
ClinVar
PMID:8797827 PMID:9579555 PMID:15886521 PMID:17183314 PMID:20221251 More... NCBI chr10:2,416,259...2,448,364 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of cellular proliferation 7054
      pre-malignant neoplasm 299
        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 + 145
        xeroderma pigmentosum + 19
paths to the root