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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 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416
JBrowse link
G Acy1 aminoacylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955532:3,627,314...3,631,799
Ensembl chrNW_004955532:3,627,274...3,631,799
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955482:8,352,569...8,383,097
Ensembl chrNW_004955482:8,352,569...8,384,899
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872
JBrowse link
G Anxa4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955424:15,323,604...15,389,136
Ensembl chrNW_004955424:15,321,990...15,389,136
JBrowse link
G Aopep aminopeptidase O (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Atm ATM serine/threonine kinase ISO protein:decreased expression:hepatocyte RGD PMID:11751435 RGD:1599367 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcat2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955559:1,785,253...1,796,838
Ensembl chrNW_004955559:1,785,253...1,797,899
JBrowse link
G Bid BH3 interacting domain death agonist treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chrNW_004955454:5,776,656...5,785,500
Ensembl chrNW_004955454:5,777,667...5,783,118
JBrowse link
G Casp3 caspase 3 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
JBrowse link
G Casp9 caspase 9 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chrNW_004955527:2,613,691...2,630,217
Ensembl chrNW_004955527:2,613,683...2,629,738
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955413:27,248,879...27,265,635
Ensembl chrNW_004955413:27,249,272...27,265,635
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:23857431 RGD:10043364 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
JBrowse link
G Cdx2 caudal type homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chrNW_004955497:7,316,372...7,321,627 JBrowse link
G Cebpa CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chrNW_004955468:3,046,544...3,049,217
Ensembl chrNW_004955468:3,047,931...3,049,080
JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955422:19,479,181...19,482,571
Ensembl chrNW_004955422:19,479,181...19,482,571
JBrowse link
G Cish cytokine inducible SH2 containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chrNW_004955532:2,380,380...2,386,000
Ensembl chrNW_004955532:2,378,088...2,386,000
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955484:3,278,624...3,307,580
Ensembl chrNW_004955484:3,279,302...3,307,543
JBrowse link
G Col23a1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955408:1,771,547...2,034,458
Ensembl chrNW_004955408:1,778,061...2,033,526
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955482:9,493,840...9,509,916
Ensembl chrNW_004955482:9,494,188...9,509,872
JBrowse link
G Dpp10 dipeptidyl peptidase like 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955459:13,456,765...14,767,495
Ensembl chrNW_004955459:13,453,491...14,109,194
JBrowse link
G Efnb2 ephrin B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955404:5,000,906...5,030,068
Ensembl chrNW_004955404:5,000,906...5,030,126
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chrNW_004955463:13,702,434...13,720,875
Ensembl chrNW_004955463:13,702,434...13,720,875
JBrowse link
G Ergic3 ERGIC and golgi 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chrNW_004955422:25,884,138...25,893,237
Ensembl chrNW_004955422:25,884,080...25,893,236
JBrowse link
G Exosc2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955513:639,798...648,360
Ensembl chrNW_004955513:639,731...651,418
JBrowse link
G Fas Fas cell surface death receptor treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Foxm1 forkhead box M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chrNW_004955429:18,392,545...18,405,254
Ensembl chrNW_004955429:18,393,470...18,405,254
JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chrNW_004955511:5,772,374...5,773,224
Ensembl chrNW_004955511:5,771,777...5,773,112
JBrowse link
G Gjb1 gap junction protein beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:30537251 RGD:150520178 NCBI chrNW_004955458:5,181,761...5,193,500
Ensembl chrNW_004955458:5,185,225...5,193,196
JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:30537251 RGD:150520178 NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Metabolic Syndrome X
associated with Diabetes Mellitus, Experimental
associated with stomach disease
CTD
RGD
PMID:2563599 PMID:7585603 PMID:15526359 PMID:16332721 PMID:20188851 More... RGD:10401933 RGD:10401942 RGD:10401944 RGD:14700971 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Higd2a HIG1 hypoxia inducible domain family member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955408:28,689,781...28,690,762
Ensembl chrNW_004955408:28,689,781...28,690,762
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chrNW_004955497:1,338,959...1,454,788
Ensembl chrNW_004955497:1,338,904...1,455,122
JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Igfbp1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chrNW_004955456:6,810,461...6,814,944
Ensembl chrNW_004955456:6,810,056...6,815,685
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Insr insulin receptor ISO associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
JBrowse link
G Klf7 KLF transcription factor 7 ISO CTD Direct Evidence: therapeutic CTD PMID:38184286 NCBI chrNW_004955457:7,833,711...7,918,754
Ensembl chrNW_004955457:7,833,218...7,918,754
JBrowse link
G Krt8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955458:178,954...190,310 JBrowse link
G LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial treatment ISO RGD PMID:22982628 RGD:151708740 NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780
JBrowse link
G LOC102028311 cytochrome b-c1 complex subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955495:6,368,827...6,372,938
Ensembl chrNW_004955495:6,368,827...6,372,938
JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chrNW_004955563:1,352,638...1,361,598
Ensembl chrNW_004955563:1,352,638...1,361,598
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO associated with Liver Neoplasms, Experimental;protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18081878 PMID:21317887 RGD:2304231 NCBI chrNW_004955408:391,094...430,638
Ensembl chrNW_004955408:391,094...430,981
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chrNW_004955477:7,103,035...7,375,073
Ensembl chrNW_004955477:7,102,977...7,376,530
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:9850086 RGD:9685350 NCBI chrNW_004955412:5,780,772...5,792,485
Ensembl chrNW_004955412:5,778,502...5,792,445
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment ISO associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
JBrowse link
G Nop16 NOP16 nucleolar protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955408:28,684,179...28,689,709
Ensembl chrNW_004955408:28,684,179...28,689,709
JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chrNW_004955468:12,985,105...13,002,850 JBrowse link
G Pbld phenazine biosynthesis like protein domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955425:20,564,296...20,620,988
Ensembl chrNW_004955425:20,584,644...20,620,988
JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955455:13,217,012...13,222,370 JBrowse link
G Phb1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chrNW_004955451:12,110,290...12,119,870
Ensembl chrNW_004955451:12,110,290...12,120,124
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chrNW_004955437:5,940,825...5,945,367
Ensembl chrNW_004955437:5,942,106...5,945,431
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D ISO RGD PMID:12021784 RGD:1599171 NCBI chrNW_004955451:1,878,110...1,915,794
Ensembl chrNW_004955451:1,878,629...1,915,654
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955425:6,176,335...7,335,867
Ensembl chrNW_004955425:6,176,432...7,331,446
JBrowse link
G Psca prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chrNW_004955454:1,425,255...1,429,786
Ensembl chrNW_004955454:1,425,255...1,429,786
JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955418:793,960...848,550
Ensembl chrNW_004955418:795,825...849,088
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chrNW_004955510:213,468...226,096
Ensembl chrNW_004955510:213,438...225,896
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:30537251 RGD:150520178 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Sirpa signal regulatory protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955415:13,030,752...13,072,735 JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955441:11,966,389...11,978,545
Ensembl chrNW_004955441:11,966,389...11,979,466
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chrNW_004955596:48,463...60,239
Ensembl chrNW_004955596:47,108...60,239
JBrowse link
G Smad3 SMAD family member 3 ISO protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chrNW_004955450:8,747,651...8,842,003
Ensembl chrNW_004955450:8,747,651...8,842,136
JBrowse link
G Smad4 SMAD family member 4 treatment ISO RGD PMID:24680176 RGD:12903951 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:30537251 RGD:150520178 NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
JBrowse link
G Socs4 suppressor of cytokine signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chrNW_004955409:8,522,540...8,539,551
Ensembl chrNW_004955409:8,527,291...8,528,616
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23596790 PMID:26297436 RGD:8694319 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chrNW_004955451:16,305,363...16,319,219
Ensembl chrNW_004955451:16,305,363...16,318,534
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO mRNA:decreased expression:stomach mucosa (rat) RGD PMID:30537251 RGD:150520178 NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
JBrowse link
G Sulf1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chrNW_004955444:9,902,334...10,066,929
Ensembl chrNW_004955444:9,899,941...9,974,666
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Clonal hematopoiesis ClinVar PMID:25741868 PMID:33057201 PMID:35714308 NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
JBrowse link
G Tff3 trefoil factor 3 ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248
JBrowse link
G Tlr2 toll like receptor 2 ISO mRNA:increased expression:colon RGD PMID:22242189 RGD:151347836 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955482:1,672,267...2,165,302 JBrowse link
G Tnk2 tyrosine kinase non receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955420:12,302,463...12,337,976
Ensembl chrNW_004955420:12,300,572...12,338,058
JBrowse link
G Tp53 tumor protein p53 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21317887 PMID:28573231 RGD:14995494 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chrNW_004955524:1,419,061...1,432,114
Ensembl chrNW_004955524:1,415,848...1,432,139
JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955426:3,647,273...3,846,916
Ensembl chrNW_004955426:3,646,728...3,846,988
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chrNW_004955452:17,330,446...17,378,579
Ensembl chrNW_004955452:17,330,446...17,378,579
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
G Ttll9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955422:29,061,323...29,105,196
Ensembl chrNW_004955422:29,061,323...29,105,605
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Wscd1 WSC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955467:11,642,318...11,684,265
Ensembl chrNW_004955467:11,642,280...11,684,265
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955422:19,028,871...19,032,850
Ensembl chrNW_004955422:19,028,291...19,032,850
JBrowse link
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chrNW_004955427:14,409,700...15,231,495
Ensembl chrNW_004955427:14,409,700...14,453,926
JBrowse link
G Zbtb8os zinc finger and BTB domain containing 8 opposite strand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chrNW_004955452:10,944,281...10,955,250
Ensembl chrNW_004955452:10,944,281...10,955,631
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 chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO mRNA, protein:increased expression:colon, epithelial cell RGD PMID:1576709 PMID:8449605 RGD:13210754 RGD:13432056 NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chrNW_004955449:11,708,152...11,716,429
Ensembl chrNW_004955449:11,708,152...11,716,429
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:23554136 RGD:13210771 NCBI chrNW_004955427:19,489,972...19,671,137
Ensembl chrNW_004955427:19,495,422...19,671,137
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO RGD PMID:23467982 RGD:13210776 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO RGD PMID:23467982 RGD:13210776 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:8449605 RGD:13432056 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Ptch1 patched 1 ISO DNA:hypermethylation:colon RGD PMID:22945423 RGD:150520176 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Tgfb2 transforming growth factor beta 2 treatment ISO RGD PMID:17293967 RGD:13432080 NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248
JBrowse link
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Knstrn kinetochore localized astrin (SPAG5) binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chrNW_004955416:7,311,483...7,322,272
Ensembl chrNW_004955416:7,311,627...7,321,553
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chrNW_004955533:1,522,878...1,796,673
Ensembl chrNW_004955533:1,522,795...1,797,116
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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 chrNW_004955476:3,067,491...3,069,637
Ensembl chrNW_004955476:3,067,689...3,068,728
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 chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281
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 chrNW_004955463:14,545,425...14,646,498
Ensembl chrNW_004955463:14,545,589...14,645,419
JBrowse link
G Bcl2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Brca1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chrNW_004955412:16,673,401...17,005,082
Ensembl chrNW_004955412:16,669,099...17,005,014
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chrNW_004955468:7,803,610...7,814,872
Ensembl chrNW_004955468:7,803,346...7,814,872
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chrNW_004955408:16,846,050...16,850,365 JBrowse link
G Cd274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
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 chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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 chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chrNW_004955418:1,592,555...1,754,423
Ensembl chrNW_004955418:1,592,229...1,754,689
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 chrNW_004955420:13,068,289...13,273,805
Ensembl chrNW_004955420:13,068,289...13,273,805
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004955526:2,739,099...2,759,640
Ensembl chrNW_004955526:2,728,377...2,759,707
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
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 chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chrNW_004955413:11,614,851...11,618,090
Ensembl chrNW_004955413:11,615,078...11,618,024
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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 chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
G Phb1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chrNW_004955451:12,110,290...12,119,870
Ensembl chrNW_004955451:12,110,290...12,120,124
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chrNW_004955404:28,812,762...28,818,024 JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
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 chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Skp2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chrNW_004955426:20,972,663...20,999,769
Ensembl chrNW_004955426:20,972,663...20,999,769
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 chrNW_004955451:4,992,634...4,996,619
Ensembl chrNW_004955451:4,992,634...4,999,029
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased expression:nucleus
protein:increased serine phosphorylation:cervix epithelium
RGD PMID:16005944 PMID:17110342 RGD:2291916 RGD:2298536 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chrNW_004955430:15,992,146...16,322,696
Ensembl chrNW_004955430:15,992,146...16,323,238
JBrowse link
G Tlr9 toll like receptor 9 disease_progression ISO protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) RGD PMID:17440926 RGD:2301099 NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
JBrowse link
G Top2a DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chrNW_004955451:14,928,273...14,964,855
Ensembl chrNW_004955451:14,929,136...14,964,723
JBrowse link
G Tp63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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 ClinVar
OMIM
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
JBrowse link
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chrNW_004955512:5,686,508...5,703,645 JBrowse link
G Ar androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Areg amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chrNW_004955474:680,212...689,021
Ensembl chrNW_004955474:680,204...689,088
JBrowse link
G Bcl2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chrNW_004955477:9,621,812...9,630,406
Ensembl chrNW_004955477:9,621,812...9,638,099
JBrowse link
G Brca1 BRCA1 DNA repair associated treatment ISO RGD PMID:25861310 RGD:127284854 NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Brca2 BRCA2 DNA repair associated onset
treatment
ISO DNA:missense mutation: :5972C>T RGD PMID:16280055 PMID:25861310 RGD:127284854 RGD:2289048 NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chrNW_004955472:619,084...625,570
Ensembl chrNW_004955472:619,245...625,051
JBrowse link
G Casp6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chrNW_004955496:575,839...584,287
Ensembl chrNW_004955496:577,832...584,287
JBrowse link
G Ccnd1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO protein:increased expression:breast RGD PMID:15788662 PMID:17119686 RGD:2289931 RGD:2289981 NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chrNW_004955458:3,683,126...3,701,752
Ensembl chrNW_004955458:3,683,126...3,702,978
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558
JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chrNW_004955422:19,425,741...19,431,801
Ensembl chrNW_004955422:19,423,591...19,433,885
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism
protein:altered localization:nucleus
CTD
RGD
PMID:16080559 PMID:20526721 RGD:2306227 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Hoxb13 homeobox B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chrNW_004955451:12,536,415...12,538,169
Ensembl chrNW_004955451:12,536,415...12,538,169
JBrowse link
G Klk10 kallikrein related peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chrNW_004955558:1,466,162...1,471,112
Ensembl chrNW_004955558:1,466,717...1,471,368
JBrowse link
G Ldhb lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chrNW_004955413:17,264,337...17,283,530
Ensembl chrNW_004955413:17,261,118...17,283,593
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chrNW_004955420:12,893,760...12,930,955
Ensembl chrNW_004955420:12,892,845...12,930,955
JBrowse link
G Pgr progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chrNW_004955412:4,643,839...4,693,478 JBrowse link
G Prkca protein kinase C alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chrNW_004955478:5,686,639...6,090,356
Ensembl chrNW_004955478:5,686,640...6,083,967
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chrNW_004955445:10,053,745...10,056,981 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA, protein:decreased expression:breast RGD PMID:18199541 PMID:18237383 RGD:2300199 RGD:2300203 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chrNW_004955461:14,337,914...14,622,779
Ensembl chrNW_004955461:14,337,914...14,556,931
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chrNW_004955405:30,349,956...30,623,849
Ensembl chrNW_004955405:30,366,866...30,375,468
Ensembl chrNW_004955405:30,366,866...30,375,468
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chrNW_004955445:19,213,210...19,227,670
Ensembl chrNW_004955445:19,215,161...19,228,695
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050
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
RGD
CTD
PMID:15609129 PMID:16133357 RGD:2291930 RGD:2291932 NCBI chrNW_004955451:16,305,363...16,319,219
Ensembl chrNW_004955451:16,305,363...16,318,534
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G Tff1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chrNW_004955407:39,363,693...39,365,724 JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chrNW_004955429:14,689,016...14,693,211
Ensembl chrNW_004955429:14,685,031...14,693,211
JBrowse link
G Top2a DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chrNW_004955451:14,928,273...14,964,855
Ensembl chrNW_004955451:14,929,136...14,964,723
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Ductal breast carcinoma in situ ClinVar PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
Endometrial Intraepithelial Neoplasia 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 ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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 chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
in situ carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ductal carcinoma in situ;protein:increased phosphorylation:breast RGD PMID:16341149 RGD:1643333 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:16024599 RGD:2317522 NCBI chrNW_004955546:2,495,226...2,550,909
Ensembl chrNW_004955546:2,494,819...2,550,909
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226
JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chrNW_004955417:30,199,508...30,386,695
Ensembl chrNW_004955417:30,198,842...30,386,266
JBrowse link
G Ccnb1 cyclin B1 ISO associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chrNW_004955446:140,661...149,500
Ensembl chrNW_004955446:140,093...149,500
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Esr1 estrogen receptor 1 ISO protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
JBrowse link
G Esr2 estrogen receptor 2 ISO protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
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 chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281
JBrowse link
G Igfbp6 insulin like growth factor binding protein 6 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chrNW_004955458:377,929...382,109
Ensembl chrNW_004955458:377,929...382,567
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chrNW_004955477:5,847,288...5,875,970 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
JBrowse link
G Pdpn podoplanin ISO mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chrNW_004955527:4,183,639...4,215,200 JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO associated with Testicular Neoplasms;protein:increased expression:semen RGD PMID:17996359 RGD:2292428 NCBI chrNW_004955583:995,707...1,003,202 JBrowse link
G Pten phosphatase and tensin homolog ISO associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:penis, skin
protein:increased expression:urinary bladder
RGD PMID:14499677 PMID:14871981 RGD:2300087 RGD:2300088 NCBI chrNW_004955445:10,053,745...10,056,981 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:pancreas
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777 RGD:2317186 RGD:2317187 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter RGD PMID:19763613 RGD:2324958 NCBI chrNW_004955452:4,580,444...4,606,820
Ensembl chrNW_004955452:4,579,331...4,636,884
JBrowse link
G Sfn stratifin ISO mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chrNW_004955452:6,217,519...6,218,481
Ensembl chrNW_004955452:6,217,698...6,218,444
JBrowse link
G Sfrp1 secreted frizzled related protein 1 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chrNW_004955536:1,663,721...1,702,678
Ensembl chrNW_004955536:1,663,344...1,703,514
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
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 chrNW_004955422:15,838,036...15,874,067
Ensembl chrNW_004955422:15,835,145...15,874,108
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 chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
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 chrNW_004955462:13,082,874...13,142,709
Ensembl chrNW_004955462:13,082,047...13,142,944
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:18288488 PMID:29928356 RGD:150340604 RGD:150340709 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Axin2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chrNW_004955478:4,952,551...4,982,223
Ensembl chrNW_004955478:4,952,488...4,982,225
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 RGD:8662371 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G LOC102025775 histone H2AX disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chrNW_004955412:20,203,173...20,204,714
Ensembl chrNW_004955412:20,203,772...20,204,203
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Snai1 snail family transcriptional repressor 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chrNW_004955445:8,232,084...8,237,893
Ensembl chrNW_004955445:8,231,924...8,237,996
JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:tongue:
protein:increased expression:oral mucosa:
RGD PMID:12167434 PMID:23776093 RGD:8547855 RGD:8547871 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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 chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
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 OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chrNW_004955460:3,560,046...3,562,002
Ensembl chrNW_004955460:3,560,046...3,562,344
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 chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chrNW_004955550:1,273,170...1,275,843
Ensembl chrNW_004955550:1,273,284...1,279,743
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Areg amphiregulin ISO protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chrNW_004955474:680,212...689,021
Ensembl chrNW_004955474:680,204...689,088
JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Aurka aurora kinase A ISO protein:increased expression:prostate gland RGD PMID:15754349 PMID:16707419 RGD:2293877 RGD:2293883 NCBI chrNW_004955445:2,831,073...2,853,151
Ensembl chrNW_004955445:2,831,157...2,853,357
JBrowse link
G Aurkb aurora kinase B ISO RGD PMID:16707419 RGD:2293877 NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chrNW_004955406:39,303,221...39,307,308
Ensembl chrNW_004955406:39,303,175...39,308,778
JBrowse link
G Carm1 coactivator associated arginine methyltransferase 1 ISO protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chrNW_004955495:1,983,599...2,002,174
Ensembl chrNW_004955495:1,983,599...2,002,174
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Ccne1 cyclin E1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chrNW_004955468:7,803,610...7,814,872
Ensembl chrNW_004955468:7,803,346...7,814,872
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:18691549 PMID:20932324 RGD:2299085 NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3 like 4 severity ISO RGD PMID:17270658 RGD:13504714 NCBI chrNW_004955545:563,710...569,224
Ensembl chrNW_004955545:564,193...568,942
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chrNW_004955415:4,434,486...4,462,505
Ensembl chrNW_004955415:4,434,453...4,461,751
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
JBrowse link
G Esr2 estrogen receptor 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chrNW_004955413:2,246,965...2,257,883
Ensembl chrNW_004955413:2,246,965...2,257,883
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO RGD PMID:12208767 RGD:2301097 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:18068632 RGD:2298702 NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:14695195 RGD:2301192 NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Fzd4 frizzled class receptor 4 ISO protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:22581815 PMID:24312188 RGD:10401940 NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864
JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:19117991 RGD:2314913 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:27067790 RGD:11531513 NCBI chrNW_004955496:1,728,840...1,827,749
Ensembl chrNW_004955496:1,728,840...1,828,698
JBrowse link
G LOC102023780 aromatase ISO RGD PMID:19700748 RGD:7257711 NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146
JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chrNW_004955467:5,188,036...5,295,570
Ensembl chrNW_004955467:5,187,356...5,307,692
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chrNW_004955478:3,331,607...3,448,840
Ensembl chrNW_004955478:3,331,607...3,448,842
JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chrNW_004955563:1,352,638...1,361,598
Ensembl chrNW_004955563:1,352,638...1,361,598
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:10861747 RGD:10059615 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Phb1 prohibitin 1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chrNW_004955451:12,110,290...12,119,870
Ensembl chrNW_004955451:12,110,290...12,120,124
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chrNW_004955437:5,940,825...5,945,367
Ensembl chrNW_004955437:5,942,106...5,945,431
JBrowse link
G Prss8 serine protease 8 disease_progression ISO mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chrNW_004955493:7,970,929...7,976,885
Ensembl chrNW_004955493:7,971,609...7,976,666
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18268330 PMID:19081794 PMID:22581815 RGD:2292497 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:prostate gland RGD PMID:15570007 PMID:16278667 RGD:2298767 RGD:2298769 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Rxra retinoid X receptor alpha ISO protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chrNW_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994
JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chrNW_004955409:7,963,454...7,991,600
Ensembl chrNW_004955409:7,963,454...7,995,027
JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050
JBrowse link
G Stk11 serine/threonine kinase 11 ISO RGD PMID:18381428 RGD:2291943 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:16940965 RGD:2290433 NCBI chrNW_004955429:14,689,016...14,693,211
Ensembl chrNW_004955429:14,685,031...14,693,211
JBrowse link
G Top2b DNA topoisomerase II beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chrNW_004955430:17,457,603...17,523,115
Ensembl chrNW_004955430:17,457,603...17,507,012
JBrowse link
G Tp63 tumor protein p63 ISO protein:decreased expression:prostate gland
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17189982 PMID:17982114 PMID:22581815 RGD:2315433 RGD:2315434 NCBI chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786
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 chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum
RGD
ClinVar
PMID:8798680 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 RGD:1601050 NCBI chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:3341805 PMID:7585650 PMID:7825573 PMID:7849702 PMID:7920640 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 More... NCBI chrNW_004955459:3,210,936...3,238,401
Ensembl chrNW_004955459:3,210,479...3,242,576
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... NCBI chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... NCBI chrNW_004955404:8,294,506...8,321,505
Ensembl chrNW_004955404:8,294,346...8,321,112
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chrNW_004955555:2,346,241...2,355,529
Ensembl chrNW_004955555:2,349,999...2,355,529
JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chrNW_004955437:9,392,484...9,409,186
Ensembl chrNW_004955437:9,397,141...9,414,042
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO MouseDO NCBI chrNW_004955484:7,318,813...7,344,221
Ensembl chrNW_004955484:7,318,860...7,347,430
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 chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 More... NCBI chrNW_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 More... NCBI chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845
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: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A OMIM
ClinVar
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chrNW_004955419:27,751,042...27,774,917
Ensembl chrNW_004955419:27,751,043...27,774,917
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group A ClinVar PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 More... NCBI chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845
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 group B OMIM
ClinVar
PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chrNW_004955459:3,210,936...3,238,401
Ensembl chrNW_004955459:3,210,479...3,242,576
JBrowse link
xeroderma pigmentosum group C 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: Xeroderma pigmentosum, group C ClinVar PMID:25741868 NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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 chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XPC-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group C OMIM
ClinVar
PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845
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 chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
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 OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chrNW_004955555:2,346,241...2,355,529
Ensembl chrNW_004955555:2,349,999...2,355,529
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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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: DDB2-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group E OMIM
ClinVar
PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chrNW_004955422:961,602...977,066
Ensembl chrNW_004955422:961,893...974,338
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, group F | 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 chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122
JBrowse link
G Mrtfb myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chrNW_004955442:4,542,700...4,733,646
Ensembl chrNW_004955442:4,547,829...4,733,724
JBrowse link
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chrNW_004955442:4,255,726...4,421,083
Ensembl chrNW_004955442:4,258,692...4,422,197
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 OMIM
ClinVar
PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chrNW_004955404:8,294,506...8,321,505
Ensembl chrNW_004955404:8,294,346...8,321,112
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: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type OMIM
ClinVar
PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chrNW_004955437:9,392,484...9,409,186
Ensembl chrNW_004955437:9,397,141...9,414,042
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 ISO OMIM:610965 MouseDO NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME OMIM
ClinVar
PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14333
    disease of cellular proliferation 6895
      pre-malignant neoplasm 262
        Aberrant Crypt Foci 10
        Endometrial Intraepithelial Neoplasia 5
        Erythroplasia 0
        Leukoplakia + 11
        Preleukemias 0
        Uterine Cervical Dysplasia + 1
        actinic keratosis + 3
        conjunctival intraepithelial neoplasm + 0
        in situ carcinoma + 133
        lymphomatoid granulomatosis + 0
        xeroderma pigmentosum + 18
paths to the root