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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 chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734
JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr26:48,105,271...48,110,670
Ensembl chr26:48,105,216...48,110,896
JBrowse link
G ACY1 aminoacylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr22:13,353,446...13,359,274
Ensembl chr22:13,353,588...13,359,569
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr20:113,661,850...113,693,665 JBrowse link
G ANXA4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr14:37,297,960...37,384,187
Ensembl chr14:37,297,652...37,344,884
JBrowse link
G AOPEP aminopeptidase O (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:108,007,895...108,360,361
Ensembl chr12:108,171,743...108,360,041
JBrowse link
G ARG1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr13:41,971,955...41,983,372
Ensembl chr13:41,971,802...41,983,049
JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:hepatocyte RGD PMID:11751435 RGD:1599367 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BCAT2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:42,031,003...42,051,770
Ensembl chr 6:42,030,984...42,049,050
JBrowse link
G CASP3 caspase 3 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899
JBrowse link
G CASP8 caspase 8 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
JBrowse link
G CASP9 caspase 9 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
JBrowse link
G CCDC134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr19:24,332,293...24,358,056
Ensembl chr19:24,332,316...24,357,583
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:23857431 RGD:10043364 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
JBrowse link
G CDX2 caudal type homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chr 3:7,080,142...7,088,010
Ensembl chr 3:7,078,503...7,087,285
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 6:28,342,506...28,345,759
Ensembl chr 6:28,343,907...28,344,977
JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G CISH cytokine inducible SH2 containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr22:11,993,212...11,998,625
Ensembl chr22:11,993,242...11,995,375
JBrowse link
G COG4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:53,635,045...53,673,205
Ensembl chr 5:53,635,485...53,673,227
JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr23:79,932,340...80,279,808 JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 treatment ISO RGD PMID:22982628 RGD:151708740 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
JBrowse link
G DDX54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:108,407,623...108,437,188
Ensembl chr11:108,404,719...108,437,168
JBrowse link
G DPP10 dipeptidyl peptidase like 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr10:14,434,244...15,822,419 JBrowse link
G EFNB2 ephrin B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 8:36,063,311...36,092,439 JBrowse link
G ERGIC3 ERGIC and golgi 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chr 2:56,474,811...56,482,788 JBrowse link
G EXOSC2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:7,441,812...7,452,979
Ensembl chr12:7,442,791...7,452,964
JBrowse link
G FOXM1 forkhead box M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chr11:2,920,903...2,941,011
Ensembl chr11:2,920,663...2,940,823
JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 1:11,837,533...11,840,926 JBrowse link
G GJB1 gap junction protein beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chr  X:61,013,991...61,019,222
Ensembl chr  X:61,017,716...61,018,567
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:30537251 RGD:150520178 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:30537251 RGD:150520178 NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238
JBrowse link
G GSTA4 glutathione S-transferase alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20180811 NCBI chr17:19,575,835...19,591,713
Ensembl chr17:19,575,876...19,591,919
JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:97,305,094...97,317,892 JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO associated with stomach disease
associated with Metabolic Syndrome X
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
RGD
CTD
PMID:2563599 PMID:7585603 PMID:15526359 PMID:16332721 PMID:20188851 More... RGD:10401933 RGD:10401942 RGD:10401944 RGD:14700971 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 7:55,919,499...55,965,074
Ensembl chr 7:55,919,623...55,964,857
JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr23:78,392,364...78,393,407 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chr21:12,932,727...12,939,078
Ensembl chr21:12,932,732...12,937,891
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G INSR insulin receptor ISO associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chr10:112,748,283...112,812,368 JBrowse link
G KLF7 KLF transcription factor 7 ISO CTD Direct Evidence: therapeutic CTD PMID:38184286 NCBI chr10:92,854,234...92,943,908
Ensembl chr10:92,859,000...92,944,062
JBrowse link
G KRT8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr11:49,027,879...49,051,753 JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103233229 cadherin-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
JBrowse link
G LOC103233614 cytochrome b-c1 complex subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:1,378,019...1,388,975 JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425
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 chr23:81,965,330...82,026,414
Ensembl chr23:81,963,899...82,013,659
JBrowse link
G MDM2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 9:122,089,768...122,376,320 JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:9850086 RGD:9685350 NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587
JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671
JBrowse link
G MUC1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr 1:893,554...926,854 JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854
JBrowse link
G NOP16 NOP16 nucleolar protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr23:78,387,634...78,392,405
Ensembl chr23:78,387,877...78,392,238
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chr20:2,724,843...2,752,999
Ensembl chr20:2,744,908...2,756,658
JBrowse link
G PBLD phenazine biosynthesis like protein domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:63,061,291...63,108,098
Ensembl chr 9:63,084,627...63,106,874
JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr11:113,469,845...113,479,177 JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr17:34,968,661...34,973,920
Ensembl chr17:34,968,429...34,973,760
JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D ISO RGD PMID:12021784 RGD:1599171 NCBI chr16:31,833,145...31,900,962
Ensembl chr16:31,833,160...31,900,963
JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 4:39,516,307...39,553,627 JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:78,858,269...80,188,163 JBrowse link
G PSCA prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 8:136,925,881...136,929,257 JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr23:42,447,804...42,496,066
Ensembl chr23:42,461,486...42,494,067
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G SFTPD surfactant protein D ISO protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chr 9:51,809,241...51,820,974
Ensembl chr 9:51,811,052...51,820,650
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:30537251 RGD:150520178 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395
JBrowse link
G SIRPA signal regulatory protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:54,590,151...54,636,381 JBrowse link
G SIX3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr14:62,278,124...62,292,942
Ensembl chr14:62,278,461...62,281,127
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 2:55,744,934...55,760,957
Ensembl chr 2:55,752,837...55,761,120
JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527
JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:24680176 RGD:12903951 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:30537251 RGD:150520178 NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709
JBrowse link
G SOCS4 suppressor of cytokine signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr24:32,198,438...32,227,240
Ensembl chr24:32,220,800...32,222,122
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO mRNA:decreased expression:stomach mucosa (rat) RGD PMID:30537251 RGD:150520178 NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
JBrowse link
G SULF1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chr 8:65,242,921...65,435,374
Ensembl chr 8:65,341,154...65,435,450
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 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:colon RGD PMID:22242189 RGD:151347836 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
JBrowse link
G TMEM132D transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:124,425,472...125,256,613 JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr15:91,187,702...91,232,391
Ensembl chr15:91,201,008...91,232,399
JBrowse link
G TP53 tumor protein p53 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21317887 PMID:28573231 RGD:14995494 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:14,566,958...14,604,754
Ensembl chr 6:14,566,869...14,598,934
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:13,846,753...14,214,647
Ensembl chr 4:13,847,936...14,215,164
JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr20:93,017,385...93,065,601
Ensembl chr20:93,017,428...93,064,904
JBrowse link
G TSC2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682
JBrowse link
G TTLL9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:36,259,106...36,340,711
Ensembl chr 2:36,268,132...36,332,618
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chr17:28,377,959...28,394,508 JBrowse link
G WSCD1 WSC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr16:5,452,255...5,504,686
Ensembl chr16:5,318,532...5,507,872
JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:7,977,690...7,982,313
Ensembl chr 1:7,977,867...7,984,211
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr22:65,715,470...66,528,195
Ensembl chr22:66,511,237...66,524,064
JBrowse link
G ZBTB8OS zinc finger and BTB domain containing 8 opposite strand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr20:100,221,153...100,252,884
Ensembl chr20:100,220,958...100,254,697
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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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 chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chr10:47,550,097...47,560,610 JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:23554136 RGD:13210771 NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239
JBrowse link
G LOC103219825 protein patched homolog 1 ISO DNA:hypermethylation:colon RGD PMID:22945423 RGD:150520176 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:23467982 RGD:13210776 NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:23467982 RGD:13210776 NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:8449605 RGD:13432056 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
JBrowse link
G TGFB2 transforming growth factor beta 2 treatment ISO RGD PMID:17293967 RGD:13432080 NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470
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 chr26:42,620,401...42,631,932
Ensembl chr26:42,621,084...42,631,822
JBrowse link
G LOC103216270 cytochrome P450 26A1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
JBrowse link
adenocarcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCF FA complementation group F disease_progression ISO DNA:hypermethylation:promoter: RGD PMID:14647419 RGD:11049137 NCBI chr 1:42,377,150...42,381,653
Ensembl chr 1:42,378,883...42,380,007
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 chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
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 8:37,017,827...37,131,462
Ensembl chr 8:37,017,545...37,131,615
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr16:63,162,827...63,243,928 JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637
JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 6:24,879,923...24,888,985 JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878
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 chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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 chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531
JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190
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 chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652
JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742
JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD PMID:14675666 PMID:17709267 RGD:2290004 RGD:2290021 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G LOC103233229 cadherin-1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
JBrowse link
G LOC103244924 cyclin-G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr23:65,709,759...65,716,913
Ensembl chr23:65,709,786...65,714,711
JBrowse link
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947
JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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 chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr 3:57,667,248...57,673,071 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632
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 chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982
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:2291916 RGD:2298536 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr15:68,797,410...69,161,256
Ensembl chr15:68,802,078...68,902,292
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr15:83,861,489...84,126,675 JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr17:28,377,959...28,394,508 JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr29:21,215,985...21,226,927 JBrowse link
G ANXA1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562
JBrowse link
G AR androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776
JBrowse link
G AREG amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr16:70,226,824...70,237,000 JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr 9:124,570,958...124,586,002
Ensembl chr 9:124,568,695...124,585,980
JBrowse link
G BRCA1 BRCA1 DNA repair associated treatment ISO RGD PMID:25861310 RGD:127284854 NCBI chr16:63,162,827...63,243,928 JBrowse link
G BRCA2 BRCA2 DNA repair associated treatment
onset
ISO DNA:missense mutation: :5972C>T RGD PMID:16280055 PMID:25861310 RGD:127284854 RGD:2289048 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831
JBrowse link
G CASP6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 7:57,592,632...57,616,094
Ensembl chr 7:57,593,342...57,607,489
JBrowse link
G CCND1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
JBrowse link
G CCND2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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 chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr10:97,099,090...98,281,697 JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918
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 chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
JBrowse link
G HOXB13 homeobox B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr16:69,137,561...69,141,615
Ensembl chr16:69,137,585...69,139,382
JBrowse link
G KLK10 kallikrein related peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr 6:44,034,371...44,039,966
Ensembl chr 6:44,034,682...44,038,607
JBrowse link
G LDHB lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr11:21,489,815...21,511,892
Ensembl chr11:21,488,814...21,511,938
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr15:90,474,367...90,488,814
Ensembl chr15:90,398,660...90,449,346
Ensembl chr15:90,398,660...90,449,346
JBrowse link
G PGR progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296
JBrowse link
G PRKCA protein kinase C alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256
JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435
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 chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 8:134,897,511...135,246,300 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991
JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr11:88,964,805...88,971,147
Ensembl chr11:88,966,940...88,971,515
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007
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 chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G TFF1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600
JBrowse link
G TOP2A DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TYMP thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr17:28,377,959...28,394,508 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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
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 chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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 chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:16024599 RGD:2317522 NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chr20:111,055,583...111,124,143
Ensembl chr20:111,055,558...111,081,850
JBrowse link
G ANGPT1 angiopoietin 1 ISO associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chr 8:102,020,346...102,268,443 JBrowse link
G CASP1 caspase 1 ISO associated with Carcinoma, Lobular RGD PMID:17375183 RGD:2298754 NCBI chr 1:96,389,697...96,400,610
Ensembl chr 1:96,389,657...96,400,849
JBrowse link
G CCNB1 cyclin B1 ISO associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085
JBrowse link
G CTNNB1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
JBrowse link
G ESR1 estrogen receptor 1 ISO protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
JBrowse link
G ESR2 estrogen receptor 2 ISO protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
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 chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr11:49,209,135...49,213,803
Ensembl chr11:49,209,136...49,213,858
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
JBrowse link
G PDPN podoplanin ISO mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311
JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO associated with Testicular Neoplasms;protein:increased expression:semen RGD PMID:17996359 RGD:2292428 NCBI chr17:41,306,523...41,313,065 JBrowse link
G PTEN phosphatase and tensin homolog ISO associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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 chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreas
CTD
RGD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777 RGD:2317186 RGD:2317187 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter RGD PMID:19763613 RGD:2324958 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
JBrowse link
G SFN stratifin ISO mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720
JBrowse link
G SFRP1 secreted frizzled related protein 1 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr 8:39,243,775...39,289,050
Ensembl chr 8:39,243,780...39,288,984
JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
JBrowse link
G ZNF354A zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr23:80,407,134...80,425,920
Ensembl chr23:80,407,085...80,423,055
JBrowse link
Leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTTN cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27148699 NCBI chr 1:4,139,045...4,176,962
Ensembl chr 1:4,137,814...4,176,446
JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO RGD PMID:14735473 RGD:14701001 NCBI chr20:23,854,969...23,861,634 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 chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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 chr25:65,462,608...65,493,242
Ensembl chr25:65,462,603...65,493,246
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 chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
JBrowse link
G AXIN2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 RGD:8662371 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:cds:p.K751Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
JBrowse link
G H2AFX histone H2AX disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr 1:110,466,692...110,468,776
Ensembl chr 1:110,467,775...110,468,206
JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr20:23,854,969...23,861,634 JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G SNAI1 snail family transcriptional repressor 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr 2:13,988,059...13,993,780
Ensembl chr 2:13,988,024...13,993,746
JBrowse link
G TP53 tumor protein p53 ISO DNA:mutations:cds:
protein:increased expression:oral mucosa:
RGD PMID:12167434 PMID:23776093 RGD:8547855 RGD:8547871 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism,haplotye:cds:p.R399Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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
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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr21:18,511,727...18,513,636
Ensembl chr21:18,511,559...18,515,083
JBrowse link
prostate carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase disease_progression ISO RGD PMID:18343427 RGD:2315630 NCBI chr 4:33,221,777...33,244,829
Ensembl chr 4:33,225,754...33,244,836
JBrowse link
G ANG angiogenin ISO RGD PMID:19276260 RGD:2325697 NCBI chr29:21,215,985...21,226,927 JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chr29:20,978,878...20,981,393 JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr  X:57,380,587...57,553,613
Ensembl chr  X:57,380,611...57,546,776
JBrowse link
G AREG amphiregulin ISO protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162
JBrowse link
G ATM ATM serine/threonine kinase ISO protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
JBrowse link
G AURKA aurora kinase A ISO protein:increased expression:prostate gland RGD PMID:15754349 PMID:16707419 RGD:2293877 RGD:2293883 NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395
JBrowse link
G AURKB aurora kinase B ISO RGD PMID:16707419 RGD:2293877 NCBI chr16:7,571,255...7,583,034
Ensembl chr16:7,570,538...7,582,959
JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chr25:26,032,404...26,036,500
Ensembl chr25:26,034,632...26,036,538
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chr 6:9,866,715...9,915,655
Ensembl chr 6:9,866,534...9,914,682
JBrowse link
G CCND1 cyclin D1 ISO mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
JBrowse link
G CCNE1 cyclin E1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 6:24,879,923...24,888,985 JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:18691549 PMID:20932324 RGD:2299085 NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531
JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 severity ISO RGD PMID:17270658 RGD:13504714 NCBI chr20:9,839,137...9,848,413
Ensembl chr20:9,838,085...9,845,287
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:19700748 RGD:7257711 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
JBrowse link
G ESR2 estrogen receptor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
JBrowse link
G FGF6 fibroblast growth factor 6 ISO protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chr11:4,464,159...4,476,592
Ensembl chr11:4,464,171...4,473,916
JBrowse link
G FGF8 fibroblast growth factor 8 ISO RGD PMID:12208767 RGD:2301097 NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:18068632 RGD:2298702 NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:14695195 RGD:2301192 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967
JBrowse link
G FZD4 frizzled class receptor 4 ISO protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chr 1:78,164,243...78,199,296
Ensembl chr 1:78,188,630...78,198,187
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:22581815 PMID:24312188 RGD:10401940 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19117991 RGD:2314913 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO RGD PMID:27067790 RGD:11531513 NCBI chr 7:55,974,770...56,096,214
Ensembl chr 7:55,990,621...56,094,110
JBrowse link
G LOC103233229 cadherin-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
JBrowse link
G LRP1 LDL receptor related protein 1 ISO protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr16:52,045,398...52,188,416
Ensembl chr16:52,057,784...52,187,997
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:10861747 RGD:10059615 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
JBrowse link
G PHB1 prohibitin 1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chr17:34,968,661...34,973,920
Ensembl chr17:34,968,429...34,973,760
JBrowse link
G PRSS8 serine protease 8 disease_progression ISO mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chr 5:27,820,898...27,827,873
Ensembl chr 5:27,817,830...27,824,926
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18268330 PMID:19081794 PMID:22581815 RGD:2292497 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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 chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
JBrowse link
G RXRA retinoid X receptor alpha ISO protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678
JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chr26:37,692,164...37,732,102
Ensembl chr26:37,692,219...37,731,292
JBrowse link
G SMAD4 SMAD family member 4 ISO protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007
JBrowse link
G STK11 serine/threonine kinase 11 ISO RGD PMID:18381428 RGD:2291943 NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:16940965 RGD:2290433 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600
JBrowse link
G TOP2B DNA topoisomerase II beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr15:70,266,267...70,332,079
Ensembl chr15:70,266,601...70,332,824
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 chr15:83,861,489...84,126,675 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:46,349,890...46,365,133 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 chr 1:18,071,011...18,096,660
Ensembl chr 1:18,071,383...18,096,595
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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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 chr10:2,926,410...2,963,802
Ensembl chr10:2,926,350...2,963,823
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 chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541
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 chr 3:81,406,103...81,441,422
Ensembl chr 3:81,405,872...81,436,040
JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 6:38,794,013...38,804,294
Ensembl chr 6:38,798,727...38,804,829
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 chr17:28,548,454...28,585,232
Ensembl chr17:28,549,623...28,585,206
JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO MouseDO NCBI chr 5:58,019,422...58,051,819
Ensembl chr 5:58,019,468...58,050,802
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 chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr12:41,711,872...41,735,024
Ensembl chr12:41,711,943...41,725,698
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 chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542
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 chr12:41,711,872...41,735,024
Ensembl chr12:41,711,943...41,725,698
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 chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542
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 chr10:2,926,410...2,963,802
Ensembl chr10:2,926,350...2,963,823
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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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 chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648
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 chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542
JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr 6:38,794,013...38,804,294
Ensembl chr 6:38,798,727...38,804,829
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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174
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 chr 1:18,071,011...18,096,660
Ensembl chr 1:18,071,383...18,096,595
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 chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541
JBrowse link
G MRTFB myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 5:13,530,313...13,725,359
Ensembl chr 5:13,609,016...13,720,022
JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 5:13,891,362...14,089,576
Ensembl chr 5:13,891,369...14,089,518
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 chr 3:81,406,103...81,441,422
Ensembl chr 3:81,405,872...81,436,040
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 chr17:28,548,454...28,585,232
Ensembl chr17:28,549,623...28,585,206
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 chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
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 chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    disease of cellular proliferation 7316
      pre-malignant neoplasm 266
        Aberrant Crypt Foci 10
        Endometrial Intraepithelial Neoplasia 5
        Erythroplasia 0
        Leukoplakia + 13
        Preleukemias 0
        Uterine Cervical Dysplasia + 1
        actinic keratosis + 4
        conjunctival intraepithelial neoplasm + 0
        in situ carcinoma + 135
        lymphomatoid granulomatosis + 0
        xeroderma pigmentosum + 18
paths to the root