Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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


show annotations for term's descendants           Sort by:
pre-malignant neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708 		JBrowse link
G ACE angiotensin I converting enzyme treatment ISO associated with Colonic Neoplasms RGD PMID:24959250 RGD:11039027 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 6:77,373,999...77,404,015
Ensembl chr 6:77,374,002...77,404,036 		JBrowse link
G ANXA4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:72,623,311...72,654,591
Ensembl chr 3:72,622,358...72,694,212 		JBrowse link
G AOPEP aminopeptidase O (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310 		JBrowse link
G ARG1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988 		JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:hepatocyte RGD PMID:11751435 RGD:1599367 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147 		JBrowse link
G BCAT2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:54,107,682...54,123,595
Ensembl chr 6:54,107,684...54,142,790 		JBrowse link
G BID BH3 interacting domain death agonist treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 5:69,849,007...69,874,647
Ensembl chr 5:69,849,002...69,875,853 		JBrowse link
G CASP3 caspase 3 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213 		JBrowse link
G CASP8 caspase 8 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CASP9 caspase 9 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCDC134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:6,785,957...6,800,816
Ensembl chr 5:6,785,947...6,799,913 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:23857431 RGD:10043364 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism
DNA:hypermethylation		 CTD
RGD		 PMID:12547284 PMID:24991542 RGD:1600820 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDX2 caudal type homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chr11:5,339,727...5,346,081
Ensembl chr11:5,339,716...5,346,057 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836 		JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035 		JBrowse link
G CISH cytokine inducible SH2 containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858 		JBrowse link
G CLTB clathrin light chain B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:81,488,191...81,498,623
Ensembl chr 2:81,488,092...81,495,014 		JBrowse link
G COG4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 6:13,492,876...13,524,442
Ensembl chr 6:13,490,116...13,524,452 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:79,766,260...80,141,296
Ensembl chr 2:79,766,150...80,141,293 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 treatment ISO RGD PMID:22982628 RGD:151708740 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		JBrowse link
G DDX54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr14:38,650,660...38,668,266
Ensembl chr14:38,645,891...38,668,265 		JBrowse link
G DPP10 dipeptidyl peptidase like 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr15:21,365,700...22,011,989
Ensembl chr15:20,619,441...22,011,994 		JBrowse link
G EFNB2 ephrin B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399 		JBrowse link
G ERGIC3 ERGIC and golgi 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chr17:38,884,830...38,899,140
Ensembl chr17:38,885,117...38,899,138 		JBrowse link
G EXOSC2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:270,748,534...270,757,717
Ensembl chr 1:270,748,537...270,758,111 		JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FOXM1 forkhead box M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chr 5:67,246,219...67,263,215
Ensembl chr 5:67,245,694...67,263,211
Ensembl chr 5:67,245,694...67,263,211 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 2:9,535,051...9,537,979 JBrowse link
G GJB1 gap junction protein beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:30537251 RGD:150520178 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:30537251 RGD:150520178 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G GSTA4 glutathione S-transferase alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20180811 NCBI chr 7:46,635,903...46,656,491
Ensembl chr 7:46,635,902...46,656,450 		JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr14:115,206,434...115,216,624
Ensembl chr14:115,206,188...115,216,613 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,034...114,005,511 		JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:81,486,890...81,488,039
Ensembl chr 2:81,486,890...81,488,045 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G INSR insulin receptor ISO associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,307,284 		JBrowse link
G KLF7 KLF transcription factor 7 ISO CTD Direct Evidence: therapeutic CTD PMID:38184286 NCBI chr15:110,282,399...110,380,165
Ensembl chr15:110,286,463...110,379,305 		JBrowse link
G KRT8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:18,172,423...18,180,277
Ensembl chr 5:18,167,553...18,180,404 		JBrowse link
G LOC100739163 glutathione S-transferase P-like treatment ISO associated with Metabolic Syndrome X
associated with Diabetes Mellitus, Experimental		 RGD PMID:21092749 PMID:22272023 PMID:23981577 RGD:10401933 RGD:10401942 RGD:10401944 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO associated with stomach disease
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:2563599 PMID:7585603 PMID:15526359 PMID:16332721 PMID:20188851 More... RGD:14700971 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,325...71,308,124 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874 		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 chr 2:78,338,466...78,399,108
Ensembl chr 2:78,338,376...78,399,100 		JBrowse link
G MDM2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		JBrowse link
G MIR125A microRNA mir-125a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645 		JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211 		JBrowse link
G MIR151 microRNA mir-151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 4:2,849,041...2,849,120
Ensembl chr 4:2,849,038...2,849,130 		JBrowse link
G MIR212 microRNA mir-212 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr12:48,163,054...48,163,135
Ensembl chr12:48,163,046...48,163,145 		JBrowse link
G MIR30A microRNA mir-30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933 		JBrowse link
G MIR30D microRNA mir-30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 4:6,948,669...6,948,747
Ensembl chr 4:6,948,669...6,948,747 		JBrowse link
G MIR331 microRNA mir-331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 5:88,028,339...88,028,418
Ensembl chr 5:88,028,339...88,028,418 		JBrowse link
G MIR652 microRNA mir-652 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:90,166,525...90,166,607
Ensembl chr  X:90,166,516...90,166,613 		JBrowse link
G MIR98 microRNA mir-98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:46,302,381...46,302,460
Ensembl chr  X:46,302,381...46,302,460 		JBrowse link
G MIR99B microRNA mir-99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 6:58,332,211...58,332,280
Ensembl chr 6:58,332,205...58,332,284 		JBrowse link
G MIRLET7D microRNA let-7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 3:43,468,501...43,468,596
Ensembl chr 3:43,468,501...43,468,596 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:9850086 RGD:9685350 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330 		JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,431 		JBrowse link
G PBLD phenazine biosynthesis like protein domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr14:71,442,850...71,487,542
Ensembl chr14:71,440,778...71,487,480 		JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr14:34,523,901...34,530,238 JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706 		JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,291...32,793,878 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D ISO RGD PMID:12021784 RGD:1599171 NCBI chr12:37,485,601...37,536,159
Ensembl chr12:37,485,588...37,536,146 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr16:25,745,902...25,783,524
Ensembl chr16:25,745,324...25,783,707 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr14:97,558,531...98,793,080
Ensembl chr14:97,558,533...98,793,010 		JBrowse link
G PSCA prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 4:1,479,872...1,484,245
Ensembl chr 4:1,479,879...1,482,354 		JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:141,591,724...141,658,711
Ensembl chr 2:141,595,464...141,658,713 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G SFTPD surfactant protein D ISO protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:30537251 RGD:150520178 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G SIRPA signal regulatory protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr17:33,566,270...33,611,375 JBrowse link
G SIX3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:95,521,330...95,527,004
Ensembl chr 3:95,521,334...95,525,436 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026 		JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:24680176 RGD:12903951 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:30537251 RGD:150520178 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898 		JBrowse link
G SOCS4 suppressor of cytokine signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 1:184,379,017...184,398,902
Ensembl chr 1:184,379,086...184,398,898 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23596790 PMID:26297436 RGD:8694319 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO mRNA:decreased expression:stomach mucosa (rat) RGD PMID:30537251 RGD:150520178 NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003 		JBrowse link
G SULF1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chr 4:65,595,947...65,778,889
Ensembl chr 4:65,595,951...65,778,884 		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 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299 		JBrowse link
G TFF3 trefoil factor 3 ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:colon RGD PMID:22242189 RGD:151347836 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TMEM132D transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr14:25,144,440...25,919,018
Ensembl chr14:25,144,430...25,913,052 		JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:134,082,266...134,124,826
Ensembl chr13:134,101,377...134,124,824 		JBrowse link
G TP53 tumor protein p53 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21317887 PMID:28573231 RGD:14995494 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 2:61,453,721...61,476,781
Ensembl chr 2:61,453,725...61,476,781 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr16:3,690,831...3,921,554
Ensembl chr16:3,564,171...3,921,553 		JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 6:95,622,056...95,683,817
Ensembl chr 6:95,626,825...95,683,805 		JBrowse link
G TSC2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G TTLL9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:35,558,373...35,612,761
Ensembl chr17:35,558,525...35,609,033 		JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:76,903,219...76,906,276
Ensembl chr 2:76,903,281...76,909,544 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G WSCD1 WSC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:51,152,568...51,198,302
Ensembl chr12:51,154,478...51,196,933 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:6,097,749...6,101,965
Ensembl chr 2:6,095,877...6,102,037 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr13:144,855,821...145,668,320
Ensembl chr13:145,591,894...145,644,880 		JBrowse link
G ZBTB8OS zinc finger and BTB domain containing 8 opposite strand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:88,970,973...88,986,999
Ensembl chr 6:88,970,977...88,987,004 		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 chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		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 chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554 		JBrowse link
G GCG glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,560...68,810,242 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:23554136 RGD:13210771 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:23467982 RGD:13210776 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:23467982 RGD:13210776 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:8449605 RGD:13432056 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G PTCH1 patched 1 ISO DNA:hypermethylation:colon RGD PMID:22945423 RGD:150520176 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G TGFB2 transforming growth factor beta 2 treatment ISO RGD PMID:17293967 RGD:13432080 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr14:104,561,394...104,567,099
Ensembl chr14:104,563,195...104,567,095 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		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 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856 		JBrowse link
breast carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2R insulin like growth factor 2 receptor ISO DNA:loss of heterozygosity RGD PMID:8649861 RGD:2311631 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		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 chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 9:42,644,487...42,984,934
Ensembl chr 9:42,644,431...42,985,017 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363 		JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738 		JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724 		JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO associated with Papillomavirus Infections;protein:increased expression:cervix epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression ISO associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium RGD PMID:18301453 RGD:2293574 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO protein:increased expression
protein:increased expression:uterine cervix
DNA:hypermethylation		 RGD PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346 RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334 		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 chr13:132,819,931...133,084,880
Ensembl chr13:132,820,870...133,086,841 		JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		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 chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G LOC110258578 interleukin-1 beta-like susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		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 chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		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 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310 		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 chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162 		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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr13:10,900,716...11,360,587
Ensembl chr13:10,900,724...11,359,544 		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 chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450 		JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		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 OMIM
ClinVar		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C1 aldo-keto reductase family 1, member C1 ISO protein:increased expression:myoepithelial cells: RGD PMID:16735089 RGD:10053629 NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248 		JBrowse link
G ANG angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		JBrowse link
G ANXA1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279 		JBrowse link
G AR androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G AREG amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215 		JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907 		JBrowse link
G BRCA1 BRCA1 DNA repair associated treatment ISO RGD PMID:25861310 RGD:127284854 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822 		JBrowse link
G CASP6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 8:112,519,450...112,534,315
Ensembl chr 8:112,520,629...112,537,045 		JBrowse link
G CCND1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCND2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		JBrowse link
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr 5:89,257,603...89,480,414
Ensembl chr 5:89,267,944...89,479,712 		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 chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		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 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173 		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 chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G HOXB13 homeobox B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr12:24,948,307...24,950,661
Ensembl chr12:24,947,687...24,950,714 		JBrowse link
G KLK10 kallikrein related peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr 6:55,673,508...55,677,725
Ensembl chr 6:55,673,439...55,677,725 		JBrowse link
G LDHB lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr 5:51,810,932...51,831,218 JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr13:133,276,122...133,383,506
Ensembl chr13:133,273,112...133,389,458 		JBrowse link
G PGR progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221 		JBrowse link
G PRKCA protein kinase C alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462 		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 chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr12:3,643,832...3,647,015
Ensembl chr12:3,643,929...3,647,009 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		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 chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TFF1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942 		JBrowse link
G TOP2A DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 More... NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr14:99,929,590...100,021,619 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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
in situ carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO associated with Pancreatic Neoplasms RGD PMID:19880966 RGD:2325208 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ductal carcinoma in situ;protein:increased phosphorylation:breast RGD PMID:16341149 RGD:1643333
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:16024599 RGD:2317522 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,589,045...79,649,644 		JBrowse link
G ANGPT1 angiopoietin 1 ISO associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960 		JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO associated with Carcinoma, Lobular RGD PMID:17375183 RGD:2298754 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328 		JBrowse link
G CCNB1 cyclin B1 ISO associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO associated with Bladder Neoplasms;protein:increased expression:urinary bladder RGD PMID:18234280 RGD:2296048 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CTNNB1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G ESR1 estrogen receptor 1 ISO protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G ESR2 estrogen receptor 2 ISO protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human) RGD PMID:8649861 RGD:2311631 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr 5:18,352,884...18,357,225
Ensembl chr 5:18,352,400...18,357,225 		JBrowse link
G MKI67 marker of proliferation Ki-67 ISO associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chr14:137,266,622...137,296,312 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441 		JBrowse link
G PDPN podoplanin ISO mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO associated with Testicular Neoplasms;protein:increased expression:semen RGD PMID:17996359 RGD:2292428 NCBI chr 7:23,564,654...23,570,691 JBrowse link
G PTEN phosphatase and tensin homolog ISO associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chr14:99,929,590...100,021,619 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 chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462 		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 chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter RGD PMID:19763613 RGD:2324958 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026 		JBrowse link
G SFN stratifin ISO mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827 		JBrowse link
G SFRP1 secreted frizzled related protein 1 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr17:10,436,414...10,489,773
Ensembl chr17:10,436,426...10,489,748 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		JBrowse link
G ZNF354A zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537 		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 2:3,031,103...3,060,796
Ensembl chr 2:3,031,103...3,060,813 		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 chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		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 chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,818...87,194,170 		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 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G AXIN2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 RGD:8662371 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G H2AX H2A.X variant histone disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		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 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		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 chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:54,283,315...54,285,823
Ensembl chr18:54,283,325...54,285,820 		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 chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938 		JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677 		JBrowse link
G AREG amphiregulin ISO protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102 		JBrowse link
G ATM ATM serine/threonine kinase ISO protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552 		JBrowse link
G AURKA aurora kinase A ISO protein:increased expression:prostate gland RGD PMID:15754349 PMID:16707419 RGD:2293877 RGD:2293883 NCBI chr17:56,954,838...56,972,435 JBrowse link
G AURKB aurora kinase B ISO RGD PMID:16707419 RGD:2293877 NCBI chr12:53,410,833...53,426,165
Ensembl chr12:53,410,177...53,423,225 		JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chr 9:64,033,853...64,037,795
Ensembl chr 9:64,031,832...64,035,837 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chr 2:69,602,121...69,644,862
Ensembl chr 2:69,602,136...69,644,854 		JBrowse link
G CCND1 cyclin D1 ISO mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCNE1 cyclin E1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363 		JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:18691549 PMID:20932324 RGD:2299085 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 severity ISO RGD PMID:17270658 RGD:13504714 NCBI chr 4:95,716,530...95,723,959
Ensembl chr 4:95,716,537...95,722,947 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633 		JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO RGD PMID:19700748 RGD:7257711 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G ESR2 estrogen receptor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G FGF6 fibroblast growth factor 6 ISO protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chr 5:65,975,807...65,990,035
Ensembl chr 5:65,975,838...65,990,029 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO RGD PMID:12208767 RGD:2301097 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:18068632 RGD:2298702 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:14695195 RGD:2301192 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		JBrowse link
G FZD4 frizzled class receptor 4 ISO protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,717,344...20,721,460 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19117991 RGD:2314913 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO RGD PMID:27067790 RGD:11531513 NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070 		JBrowse link
G LOC100739163 glutathione S-transferase P-like ISO RGD PMID:24312188 RGD:10401940 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LRP1 LDL receptor related protein 1 ISO protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chr 5:22,435,636...22,519,276 JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,325...71,308,124 		JBrowse link
G MT-2B metallothionein-2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16574721 NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:10861747 RGD:10059615 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078 		JBrowse link
G PHB1 prohibitin 1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706 		JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,291...32,793,878 		JBrowse link
G PRSS8 serine protease 8 disease_progression ISO mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,220 		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 chr14:99,929,590...100,021,619 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		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 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G RXRA retinoid X receptor alpha ISO protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chr 1:126,236,971...126,268,102
Ensembl chr 1:126,237,032...126,268,094 		JBrowse link
G SMAD4 SMAD family member 4 ISO protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		JBrowse link
G STK11 serine/threonine kinase 11 ISO RGD PMID:18381428 RGD:2291943 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:16940965 RGD:2290433 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942 		JBrowse link
G TOP2B DNA topoisomerase II beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr13:12,507,738...12,575,042
Ensembl chr13:12,507,138...12,575,583 		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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		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:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		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 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		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 chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		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 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		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 chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 6:51,727,891...51,735,753
Ensembl chr 6:51,727,904...51,735,754 		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 chr 7:38,569,211...38,601,794
Ensembl chr 7:38,567,788...38,601,790 		JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO MouseDO NCBI chr 6:17,605,748...17,631,795
Ensembl chr 6:17,605,763...17,631,721 		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 chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		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 chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570 		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 chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		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 chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570 		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 chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		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 chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		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 chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		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 chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		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 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr 6:51,727,891...51,735,753
Ensembl chr 6:51,727,904...51,735,754 		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 chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120 		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 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G MIR365-1 microRNA mir-365-1 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,908,137...28,908,216
Ensembl chr 3:28,908,129...28,908,219 		JBrowse link
G MRTFB myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,964,758...29,240,125
Ensembl chr 3:28,968,215...29,167,637 		JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,616,808...28,802,506
Ensembl chr 3:28,612,269...28,802,504 		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 chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		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 chr 7:38,569,211...38,601,794
Ensembl chr 7:38,567,788...38,601,790 		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 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		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 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    disease of cellular proliferation 7377
      pre-malignant neoplasm 285
        Aberrant Crypt Foci 10
        Endometrial Intraepithelial Neoplasia 6
        Erythroplasia 0
        Leukoplakia + 11
        Preleukemias 0
        Uterine Cervical Dysplasia + 1
        actinic keratosis + 4
        conjunctival intraepithelial neoplasm + 0
        in situ carcinoma + 142
        lymphomatoid granulomatosis + 0
        xeroderma pigmentosum + 19
paths to the root