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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
 narrow_synonym: Clonal Hematopoiesis;   Gallbladder Biliary Intraepithelial Neoplasia;   Pancreatic Precancerous Condition;   Small Intestinal Intraepithelial Neoplasia;   cutaneous precancerous condition
 primary_id: MESH:D011230
 xref: EFO:0006892;   EFO:1000265;   EFO:1000443;   EFO:1000536


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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 c-abl oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239 		JBrowse link
G Ace angiotensin I converting enzyme treatment ISO associated with Colonic Neoplasms RGD PMID:24959250 RGD:11039027 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:113,877,763...113,883,356
Ensembl chr 2:113,877,763...113,884,029 		JBrowse link
G Acy1 aminoacylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:106,310,180...106,315,594
Ensembl chr 9:106,310,180...106,315,518 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887 		JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 4:139,348,404...139,377,002
Ensembl chr 4:139,350,177...139,377,001 		JBrowse link
G Anxa4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:86,713,822...86,770,616
Ensembl chr 6:86,713,822...86,770,566 		JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Arg1 arginase, liver ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382 		JBrowse link
G Atm ataxia telangiectasia mutated ISO RGD PMID:11751435 RGD:1599367 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:127,919,176...127,926,257
Ensembl chr10:127,919,142...127,926,260 		JBrowse link
G Bax BCL2-associated X protein treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bcat2 branched chain aminotransferase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 7:45,219,773...45,239,134
Ensembl chr 7:45,219,577...45,239,135 		JBrowse link
G Bid BH3 interacting domain death agonist treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 6:120,870,080...120,894,074
Ensembl chr 6:120,868,891...120,893,814 		JBrowse link
G Casp3 caspase 3 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Casp8 caspase 8 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Casp9 caspase 9 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr15:82,012,101...82,026,404
Ensembl chr15:82,012,123...82,026,404 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:23857431 RGD:10043364 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO DNA:hypermethylation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24991542 PMID:12547284 RGD:1600820 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cdx2 caudal type homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chr 5:147,237,710...147,244,059
Ensembl chr 5:147,237,615...147,244,080 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 7:34,818,718...34,821,353
Ensembl chr 7:34,818,718...34,821,353 		JBrowse link
G Cfl1 cofilin 1, non-muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229 		JBrowse link
G Chn2 chimerin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:54,016,917...54,278,797
Ensembl chr 6:54,016,539...54,278,795 		JBrowse link
G Cish cytokine inducible SH2-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983 		JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 8:111,573,232...111,608,866
Ensembl chr 8:111,573,232...111,608,859 		JBrowse link
G Col23a1 collagen, type XXIII, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr11:51,180,508...51,474,752
Ensembl chr11:51,180,747...51,474,745 		JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 treatment IDA RGD PMID:22982628 RGD:151708740 NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065 		JBrowse link
G Ddx54 DEAD box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:120,751,182...120,766,657
Ensembl chr 5:120,750,804...120,766,657 		JBrowse link
G Dpp10 dipeptidylpeptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:123,259,871...124,773,774
Ensembl chr 1:123,249,200...124,773,776 		JBrowse link
G Efnb2 ephrin B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 8:27,750,355...27,765,684
Ensembl chr 8:27,750,357...27,766,702 		JBrowse link
G Ergic3 ERGIC and golgi 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chr 2:155,849,948...155,860,199
Ensembl chr 2:155,849,965...155,860,199 		JBrowse link
G Exosc2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:31,560,727...31,571,593
Ensembl chr 2:31,560,727...31,571,361 		JBrowse link
G Fas Fas cell surface death receptor treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Foxm1 forkhead box M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chr 6:128,339,957...128,352,849
Ensembl chr 6:128,339,930...128,353,109 		JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO RGD PMID:30537251 RGD:150520178 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843 		JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO RGD PMID:30537251 RGD:150520178 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr19:47,843,412...47,853,229
Ensembl chr19:47,843,409...47,853,229 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 treatment 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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hadh hydroxyacyl-Coenzyme A dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 3:131,027,068...131,065,750
Ensembl chr 3:131,027,068...131,065,750 		JBrowse link
G Higd2a HIG1 domain family, member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:54,738,044...54,738,960
Ensembl chr13:54,738,020...54,738,971 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chr11:7,147,787...7,152,546
Ensembl chr11:7,147,782...7,152,546 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Insr insulin receptor ISO associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137 		JBrowse link
G Klf7 Kruppel-like transcription factor 7 (ubiquitous) ISO CTD Direct Evidence: therapeutic CTD PMID:38184286 NCBI chr 1:64,068,607...64,161,504
Ensembl chr 1:64,068,606...64,161,441 		JBrowse link
G Krt8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr15:101,905,146...101,912,777
Ensembl chr15:101,905,133...101,912,917 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO associated with Liver Neoplasms, Experimental;protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21317887 PMID:18081878 RGD:2304231 NCBI chr11:49,737,558...49,777,248
Ensembl chr11:49,737,578...49,777,248 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mir125a microRNA 125a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141 		JBrowse link
G Mir145a microRNA 145a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965 		JBrowse link
G Mir151 microRNA 151 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr15:73,126,664...73,126,731
Ensembl chr15:73,126,664...73,126,731 		JBrowse link
G Mir196b microRNA 196b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 6:52,207,061...52,207,145
Ensembl chr 6:52,207,061...52,207,145 		JBrowse link
G Mir200b microRNA 200b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		JBrowse link
G Mir211 microRNA 211 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:63,855,554...63,855,659
Ensembl chr 7:63,855,554...63,855,659 		JBrowse link
G Mir212 microRNA 212 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr11:75,064,214...75,064,304
Ensembl chr11:75,064,214...75,064,304 		JBrowse link
G Mir26b microRNA 26b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553 		JBrowse link
G Mir291a microRNA 291a EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:3,267,593...3,267,674
Ensembl chr 7:3,267,593...3,267,674 		JBrowse link
G Mir292 microRNA 292 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:3,267,863...3,267,944
Ensembl chr 7:3,267,863...3,267,944 		JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420 		JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr15:68,213,057...68,213,138
Ensembl chr15:68,213,057...68,213,138 		JBrowse link
G Mir324 microRNA 324 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr11:69,902,869...69,902,957
Ensembl chr11:69,902,869...69,902,957 		JBrowse link
G Mir331 microRNA 331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr10:93,799,630...93,799,725
Ensembl chr10:93,799,630...93,799,725 		JBrowse link
G Mir338 microRNA 338 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr11:119,905,591...119,905,688
Ensembl chr11:119,905,591...119,905,688 		JBrowse link
G Mir340 microRNA 340 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr11:49,960,529...49,960,626
Ensembl chr11:49,960,529...49,960,626 		JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670 		JBrowse link
G Mir483 microRNA 483 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:142,208,661...142,208,733
Ensembl chr 7:142,208,661...142,208,733 		JBrowse link
G Mir652 microRNA 652 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:141,521,996...141,522,093
Ensembl chr  X:141,521,996...141,522,093 		JBrowse link
G Mir872 microRNA 872 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 4:94,553,394...94,553,474
Ensembl chr 4:94,553,394...94,553,474 		JBrowse link
G Mir92b microRNA 92b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 3:89,134,423...89,134,505
Ensembl chr 3:89,134,423...89,134,505 		JBrowse link
G Mir98 microRNA 98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:150,696,210...150,696,317
Ensembl chr  X:150,696,210...150,696,317 		JBrowse link
G Mir99b microRNA 99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr17:18,050,450...18,050,519
Ensembl chr17:18,050,450...18,050,519 		JBrowse link
G Mirlet7b microRNA let7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr15:85,591,520...85,591,604
Ensembl chr15:85,591,520...85,591,604 		JBrowse link
G Mirlet7d microRNA let7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr13:48,689,488...48,689,590
Ensembl chr13:48,689,488...48,689,590 		JBrowse link
G Mmp7 matrix metallopeptidase 7 IMP RGD PMID:9850086 RGD:9685350 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,587 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
G Muc1 mucin 1, transmembrane ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Muc2 mucin 2 ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha treatment ISO associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Nop16 NOP16 nucleolar protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:54,732,004...54,737,921
Ensembl chr13:54,731,998...54,737,903 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chr 1:171,041,503...171,046,414
Ensembl chr 1:171,041,539...171,048,270 		JBrowse link
G Pbld1 phenazine biosynthesis-like protein domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:62,896,404...62,913,743
Ensembl chr10:62,895,941...62,913,741 		JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:117,420,716...117,425,629
Ensembl chr 5:117,420,719...117,425,690 		JBrowse link
G Phb1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599 		JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086 		JBrowse link
G Ppm1d protein phosphatase 1D magnesium-dependent, delta isoform ISO RGD PMID:12021784 RGD:1599171 NCBI chr11:85,202,080...85,237,897
Ensembl chr11:85,202,070...85,237,892 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136 		JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380 		JBrowse link
G Prkg1 protein kinase, cGMP-dependent, type I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433 		JBrowse link
G Psca prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr15:74,586,688...74,588,914
Ensembl chr15:74,586,688...74,588,918 		JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr18:36,075,480...36,147,768
Ensembl chr18:36,097,883...36,147,768 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Serpinb3d serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 1:107,005,893...107,011,210
Ensembl chr 1:107,005,897...107,011,236 		JBrowse link
G Sftpd surfactant associated protein D ISO protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106 		JBrowse link
G Shh sonic hedgehog ISO RGD PMID:30537251 RGD:150520178 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Sirpa signal-regulatory protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:129,432,962...129,474,148
Ensembl chr 2:129,434,755...129,474,148 		JBrowse link
G Six3 sine oculis-related homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730 		JBrowse link
G Slc52a3 solute carrier protein family 52, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 2:151,838,431...151,851,178
Ensembl chr 2:151,838,431...151,851,178 		JBrowse link
G Smad3 SMAD family member 3 ISO protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Smad4 SMAD family member 4 treatment ISO RGD PMID:24680176 RGD:12903951 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:30537251 RGD:150520178 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Socs4 suppressor of cytokine signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr14:47,514,377...47,533,559
Ensembl chr14:47,514,388...47,533,559 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26297436 PMID:23596790 RGD:8694319 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO mRNA:decreased expression:stomach mucosa (rat) RGD PMID:30537251 RGD:150520178 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Sulf1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chr 1:12,762,421...12,946,090
Ensembl chr 1:12,762,501...12,931,416 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO RGD PMID:16497704 RGD:9586726 NCBI chr  X:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Clonal hematopoiesis ClinVar PMID:25741868 PMID:33057201 PMID:35714308 NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900 		JBrowse link
G Tff3 trefoil factor 3, intestinal ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:colon RGD PMID:22242189 RGD:151347836 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:127,860,555...128,510,141
Ensembl chr 5:127,858,694...128,510,141 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr16:32,462,699...32,502,311
Ensembl chr16:32,462,692...32,502,311 		JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 8:72,889,132...72,906,986
Ensembl chr 8:72,884,018...72,906,986 		JBrowse link
G Trio triple functional domain (PTPRF interacting) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr15:27,730,735...28,025,954
Ensembl chr15:27,730,737...28,025,934 		JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 4:122,910,342...122,948,742
Ensembl chr 4:122,910,390...122,948,742 		JBrowse link
G Trp53 transformation related protein 53 treatment EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21317887 PMID:28573231 RGD:14995494 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Ttll9 tubulin tyrosine ligase-like family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:152,792,966...152,850,402
Ensembl chr 2:152,804,405...152,850,402 		JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr10:80,238,831...80,242,655
Ensembl chr10:80,238,831...80,242,664 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Wscd1 WSC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:71,640,719...71,680,475
Ensembl chr11:71,640,746...71,680,473 		JBrowse link
G Yif1a Yip1 interacting factor homolog A (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr19:5,138,566...5,142,907
Ensembl chr19:5,138,566...5,142,909 		JBrowse link
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr16:42,728,008...43,462,981
Ensembl chr16:42,696,244...43,462,965 		JBrowse link
G Zbtb8os zinc finger and BTB domain containing 8 opposite strand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:129,229,325...129,243,664
Ensembl chr 4:129,229,488...129,248,340 		JBrowse link
Aberrant Crypt Foci term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:14507667 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Fos FBJ osteosarcoma oncogene treatment ISO mRNA, protein:increased expression:colon, epithelial cell RGD PMID:1576709 PMID:8449605 RGD:13210754, RGD:13432056 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:23554136 RGD:13210771 NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO RGD PMID:23467982 RGD:13210776 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO RGD PMID:23467982 RGD:13210776 NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991 		JBrowse link
G Myc myelocytomatosis oncogene treatment ISO RGD PMID:8449605 RGD:13432056 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Ptch1 patched 1 ISO DNA:hypermethylation:colon RGD PMID:22945423 RGD:150520176 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 treatment ISO RGD PMID:17293967 RGD:13432080 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		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 chr19:37,686,186...37,689,984
Ensembl chr19:37,686,246...37,689,984 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr 2:118,644,470...118,667,691
Ensembl chr 2:118,644,484...118,684,438 		JBrowse link
G Oca2 oculocutaneous albinism II susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
adenocarcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf Fanconi anemia, complementation group F disease_progression ISO DNA:hypermethylation:promoter: RGD PMID:14647419 RGD:11049137 NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		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 chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		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 chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Brca1 breast cancer 1, early onset ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 9:47,441,468...47,773,578
Ensembl chr 9:47,441,471...47,769,413 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959 		JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr11:40,639,379...40,646,044
Ensembl chr11:40,639,379...40,646,138 		JBrowse link
G Cd274 CD274 antigen severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		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 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276 		JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221 		JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		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 chr16:31,482,261...31,692,174
Ensembl chr16:31,482,261...31,693,947 		JBrowse link
G Fasl Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO associated with Papillomavirus Infections RGD PMID:15458897 PMID:10073700 PMID:18351579 RGD:2306232, RGD:2314703, RGD:2306230 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:14675666 PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821 		JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		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 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Phb1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599 		JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Skp2 S-phase kinase-associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512 		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 chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581 		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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Terc telomerase RNA component disease_progression ISO DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr14:4,429,599...4,810,538
Ensembl chr14:4,431,611...4,809,435 		JBrowse link
G Tlr9 toll-like receptor 9 disease_progression ISO RGD PMID:17440926 RGD:2301099 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Trp63 transformation related protein 63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Trp73 transformation related protein 73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:41,148,483...41,198,541
Ensembl chr  X:41,148,556...41,198,533 		JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME		 CTD
OMIM
ClinVar		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c18 aldo-keto reductase family 1, member C18 ISO protein:increased expression:myoepithelial cells: RGD PMID:16735089 RGD:10053629 NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653 		JBrowse link
G Ang angiogenin, ribonuclease, RNase A family, 5 ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466 		JBrowse link
G Anxa1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308 		JBrowse link
G Ar androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		JBrowse link
G Areg amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569 		JBrowse link
G Bnip3 BCL2/adenovirus E1B interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248 		JBrowse link
G Brca1 breast cancer 1, early onset treatment ISO RGD PMID:25861310 RGD:127284854 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Brca2 breast cancer 2, early onset onset
treatment		 ISO DNA:missense mutation: :5972C>T RGD PMID:16280055 PMID:25861310 RGD:2289048, RGD:127284854 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Car9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729 		JBrowse link
G Casp6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 3:129,695,064...129,707,761
Ensembl chr 3:129,695,074...129,707,752 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		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 chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Fosl1 fos-like antigen 1 ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20526721 PMID:16080559 RGD:2306227 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Hoxb13 homeobox B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr11:96,085,142...96,087,436
Ensembl chr11:96,085,142...96,088,273 		JBrowse link
G Klk10 kallikrein related-peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr 7:43,430,478...43,434,834
Ensembl chr 7:43,430,459...43,434,834 		JBrowse link
G Ldhb lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr 6:142,435,975...142,453,683
Ensembl chr 6:142,435,975...142,453,683 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Notch4 notch 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160 		JBrowse link
G Pgr progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612 		JBrowse link
G Prkca protein kinase C, alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754 		JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875 		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 chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:95,219,765...95,253,176
Ensembl chr10:95,221,224...95,253,042 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr11:117,856,905...117,860,192
Ensembl chr11:117,856,905...117,860,873 		JBrowse link
G Src Rous sarcoma oncogene severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
G St14 suppression of tumorigenicity 14 (colon carcinoma) ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO protein:decreased expression:breast
CTD Direct Evidence: marker/mechanism
protein:altered localization:nucleus		 CTD
RGD		 PMID:15609129 PMID:16133357 PMID:15609129 RGD:2291930, RGD:2291932 NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tff1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166 		JBrowse link
G Top2a topoisomerase (DNA) II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:breast
ClinVar Annotator: match by term: Ductal breast carcinoma in situ		 ClinVar
RGD		 PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More... RGD:2289931 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Endometrial Intraepithelial Neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 More... NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		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 IMP associated with Pancreatic Neoplasms RGD PMID:19880966 RGD:2325208 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO ductal carcinoma in situ;protein:increased phosphorylation:breast RGD PMID:16341149 RGD:1643333 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:16024599 RGD:2317522 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139 		JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney ISO associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695 		JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373 		JBrowse link
G Casp1 caspase 1 ISO associated with Carcinoma, Lobular RGD PMID:17375183 RGD:2298754 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290 		JBrowse link
G Ccnb1 cyclin B1 ISO associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chr13:100,915,247...100,922,994
Ensembl chr13:100,915,158...100,923,078 		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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		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 chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		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 chr15:102,052,621...102,057,947
Ensembl chr15:102,052,797...102,057,946 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Pdpn podoplanin ISO mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134 		JBrowse link
G Pou5f1 POU domain, class 5, transcription factor 1 ISO associated with Testicular Neoplasms;protein:increased expression:semen RGD PMID:17996359 RGD:2292428 NCBI chr17:35,816,929...35,821,674
Ensembl chr17:35,816,915...35,821,669 		JBrowse link
G Pten phosphatase and tensin homolog ISO associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		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 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO
IMP		 protein:increased expression:pancreas
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10582676 PMID:10873095 PMID:18617777 PMID:17652141 RGD:2317186, RGD:2317187 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Runx3 runt related transcription factor 3 ISO associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter RGD PMID:19763613 RGD:2324958 NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301 		JBrowse link
G Sfn stratifin ISO mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr 4:133,327,867...133,329,163
Ensembl chr 4:133,327,867...133,329,479 		JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO testicular CIS; mRNA:increased expression:tumor (human) RGD PMID:15123780 RGD:2301712 NCBI chr 8:23,901,401...23,939,648
Ensembl chr 8:23,901,518...23,939,648 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
G Zfp354a zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr11:50,950,052...50,963,626
Ensembl chr11:50,950,084...50,963,626 		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 7:143,989,468...144,024,743
Ensembl chr 7:143,989,470...144,024,746 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:14735473 RGD:14701001 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO RGD PMID:16475728 RGD:14701002 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		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 chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		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, NDC80 kinetochore complex component disease_progression ISO RGD PMID:27499128 RGD:28867233 NCBI chr 1:169,325,503...169,359,033
Ensembl chr 1:169,325,503...169,359,033 		JBrowse link
oral mucosa leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ataxia telangiectasia mutated severity ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 PMID:18288488 RGD:150340604, RGD:150340709 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Axin2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		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 chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:polymorphism:cds:p.K751Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		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 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Snai1 snail family zinc finger 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr 2:167,380,115...167,384,734
Ensembl chr 2:167,380,115...167,384,734 		JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:oral mucosa:
protein:increased expression:tongue:		 RGD PMID:23776093 PMID:12167434 RGD:8547855, RGD:8547871 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:polymorphism,haplotye:cds:p.R399Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cirop ciliated left-right organizer metallopeptidase ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar PMID:25741868 NCBI chr14:54,928,502...54,936,602
Ensembl chr14:54,930,055...54,936,290 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792 		JBrowse link
G Mplkip M-phase specific PLK1 intereacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr13:17,869,998...17,873,697
Ensembl chr13:17,869,777...17,874,333 		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 chr15:10,981,875...10,995,693
Ensembl chr15:10,981,842...10,996,712 		JBrowse link
G Ang angiogenin, ribonuclease, RNase A family, 5 IMP RGD PMID:19276260 RGD:2325697 NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466 		JBrowse link
G Apex1 apurinic/apyrimidinic endonuclease 1 ISO protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		JBrowse link
G Areg amphiregulin ISO protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291 		JBrowse link
G Atm ataxia telangiectasia mutated ISO protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Aurka aurora kinase A ISO protein:increased expression:prostate gland RGD PMID:16707419 PMID:15754349 RGD:2293877, RGD:2293883 NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455 		JBrowse link
G Aurkb aurora kinase B ISO RGD PMID:16707419 RGD:2293877 NCBI chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490 		JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chr 1:134,002,603...134,006,893
Ensembl chr 1:134,002,908...134,006,858 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chr 9:21,458,163...21,500,763
Ensembl chr 9:21,458,190...21,503,919 		JBrowse link
G Ccnd1 cyclin D1 IEP mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccne1 cyclin E1 IEP mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:20932324 PMID:18691549 RGD:2299085 NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 severity ISO RGD PMID:17270658 RGD:13504714 NCBI chr 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:19700748 RGD:7257711 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Esr2 estrogen receptor 2 (beta) treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chr 6:126,992,505...127,001,681
Ensembl chr 6:126,992,549...127,005,150 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO RGD PMID:12208767 RGD:2301097 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 IDA RGD PMID:18068632 RGD:2298702 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IMP RGD PMID:14695195 RGD:2301192 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22581815 PMID:24312188 RGD:10401940 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog IAGP RGD PMID:19117991 RGD:2314913 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:27067790 RGD:11531513 NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 ISO protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr11:110,289,928...110,416,348
Ensembl chr11:110,289,948...110,416,348 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 		JBrowse link
G Mt2 metallothionein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16574721 NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196 		JBrowse link
G Myc myelocytomatosis oncogene IMP RGD PMID:10861747 RGD:10059615 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Phb1 prohibitin 1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599 		JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086 		JBrowse link
G Prss8 serine protease 8 (prostasin) disease_progression ISO mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chr 7:127,524,889...127,529,266
Ensembl chr 7:127,524,888...127,529,276 		JBrowse link
G Pten phosphatase and tensin homolog IAGP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19081794 PMID:22581815 PMID:18268330 RGD:2292497 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) IMP
ISO		 protein:increased expression:prostate gland RGD PMID:15570007 PMID:16278667 RGD:2298769, RGD:2298767 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Rxra retinoid X receptor alpha ISO protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969 		JBrowse link
G Slc30a4 solute carrier family 30 (zinc transporter), member 4 ISO protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chr 2:122,523,153...122,544,583
Ensembl chr 2:122,523,153...122,544,583 		JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G St14 suppression of tumorigenicity 14 (colon carcinoma) ISO protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149 		JBrowse link
G Stk11 serine/threonine kinase 11 IAGP RGD PMID:18381428 RGD:2291943 NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 ISO RGD PMID:16940965 RGD:2290433 NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166 		JBrowse link
G Top2b topoisomerase (DNA) II beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr14:6,038,976...6,104,585
Ensembl chr14:6,034,301...6,104,584 		JBrowse link
G Trp63 transformation related protein 63 ISO
EXP
IEP		 protein:decreased expression:prostate gland
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22581815 PMID:17189982 PMID:17982114 RGD:2315434, RGD:2315433 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		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:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
Uterine Cervical Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) RGD PMID:16803516 RGD:36049759 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		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 chr19:10,582,961...10,607,186
Ensembl chr19:10,582,691...10,607,183 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 PMID:8798680 RGD:1601050 NCBI chr 2:91,041,924...91,067,465
Ensembl chr 2:91,041,917...91,067,327 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7849702 PMID:7920640 More... RGD:1601068 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD		 PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 More... RGD:1598912, RGD:7246919 NCBI chr18:32,373,357...32,403,206
Ensembl chr18:32,373,353...32,403,204 		JBrowse link
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO DNA:deletion, point mutation:2281delTCTC, p.R788W
ClinVar Annotator: match by term: Xeroderma pigmentosum		 ClinVar
RGD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... RGD:1601093, RGD:7246919 NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar
RGD		 PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... RGD:7246919 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 7:19,128,365...19,138,101
Ensembl chr 7:19,128,362...19,138,029 		JBrowse link
G Polh polymerase (DNA directed), eta (RAD 30 related) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum		 CTD
ClinVar		 PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr17:46,482,281...46,513,567
Ensembl chr17:46,482,281...46,513,571 		JBrowse link
G Terf2 telomeric repeat binding factor 2 IAGP MouseDO NCBI chr 8:107,796,032...107,823,180
Ensembl chr 8:107,796,032...107,823,179 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
G Trp53 transformation related protein 53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Xpa xeroderma pigmentosum, complementation group A ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311 		JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 More... RGD:1599878, RGD:7246919 NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870 		JBrowse link
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpa xeroderma pigmentosum, complementation group A ISO
IAGP		 ClinVar Annotator: match by term: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A
OMIM:278700		 OMIM
ClinVar
MouseDO		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311 		JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group A ClinVar PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 More... NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870 		JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3 ISO
IAGP		 ClinVar Annotator: match by term: Xeroderma pigmentosum group B
CTD Direct Evidence: marker/mechanism
OMIM:610651		 OMIM
ClinVar
CTD
MouseDO		 PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr18:32,373,357...32,403,206
Ensembl chr18:32,373,353...32,403,204 		JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:25741868 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO
IAGP		 ClinVar Annotator: match by term: XPC-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
CTD Direct Evidence: marker/mechanism
OMIM:278720		 OMIM
ClinVar
CTD
MouseDO		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870 		JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO
IAGP		 ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
CTD Direct Evidence: marker/mechanism
OMIM:278730		 OMIM
ClinVar
CTD
MouseDO		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr 7:19,128,365...19,138,101
Ensembl chr 7:19,128,362...19,138,029 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		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
IAGP		 ClinVar Annotator: match by term: DDB2-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
OMIM:278740
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chr 2:91,041,924...91,067,465
Ensembl chr 2:91,041,917...91,067,327 		JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO
IAGP		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
CTD Direct Evidence: marker/mechanism
OMIM:278760		 OMIM
ClinVar
CTD
MouseDO		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		JBrowse link
G Mir193b microRNA 193b ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:13,267,387...13,267,465
Ensembl chr16:13,267,387...13,267,465 		JBrowse link
G Mir365-1 microRNA 365-1 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:13,271,704...13,271,790
Ensembl chr16:13,271,704...13,271,790 		JBrowse link
G Mrtfb myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:13,073,913...13,235,393
Ensembl chr16:13,074,345...13,235,393 		JBrowse link
G Parn poly(A)-specific ribonuclease (deadenylation nuclease) ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:13,355,828...13,486,035
Ensembl chr16:13,355,824...13,486,034 		JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO
IAGP		 ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
CTD Direct Evidence: marker/mechanism
OMIM:278780		 OMIM
ClinVar
CTD
MouseDO		 PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polh polymerase (DNA directed), eta (RAD 30 related) ISO
IAGP		 ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
CTD Direct Evidence: marker/mechanism
OMIM:278750		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr17:46,482,281...46,513,567
Ensembl chr17:46,482,281...46,513,571 		JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 IAGP OMIM:610965 MouseDO NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		JBrowse link
G Pole polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16268
    disease of cellular proliferation 7719
      pre-malignant neoplasm 312
        Aberrant Crypt Foci 10
        Endometrial Intraepithelial Neoplasia 6
        Erythroplasia 0
        Leukoplakia + 14
        Preleukemias 0
        Uterine Cervical Dysplasia + 2
        actinic keratosis + 4
        conjunctival intraepithelial neoplasm + 0
        in situ carcinoma + 144
        lymphomatoid granulomatosis + 0
        xeroderma pigmentosum + 24
paths to the root