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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 chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G ACE angiotensin I converting enzyme treatment ISO associated with Colonic Neoplasms RGD PMID:24959250 RGD:11039027 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ACY1 aminoacylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 3:51,924,889...51,930,638
Ensembl chr 3:53,144,802...53,158,941 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615 		JBrowse link
G ANXA4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr2A:69,686,651...69,869,340
Ensembl chr2A:70,902,260...70,986,917 		JBrowse link
G AOPEP aminopeptidase O (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201 		JBrowse link
G ARG1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162 		JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:hepatocyte RGD PMID:11751435 RGD:1599367 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468 		JBrowse link
G BCAT2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr19:45,793,433...45,809,546
Ensembl chr19:54,945,157...54,962,887 		JBrowse link
G BID BH3 interacting domain death agonist treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr22:1,164,787...1,205,051
Ensembl chr22:16,594,186...16,632,844 		JBrowse link
G CASP3 caspase 3 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185 		JBrowse link
G CASP8 caspase 8 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		JBrowse link
G CASP9 caspase 9 treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCDC134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr22:22,692,503...22,724,871
Ensembl chr22:40,778,254...40,804,191 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment ISO RGD PMID:23857431 RGD:10043364 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:hypermethylation
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12547284 PMID:24991542 RGD:1600820 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDX2 caudal type homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chr13:9,241,856...9,250,297
Ensembl chr13:27,586,340...27,593,632 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr19:30,223,567...30,226,204 JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806 		JBrowse link
G CISH cytokine inducible SH2 containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 3:50,531,870...50,537,319
Ensembl chr 3:51,769,194...51,774,548 		JBrowse link
G COG4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr16:54,491,189...54,533,770
Ensembl chr16:70,318,788...70,360,843 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:173,399,146...173,750,380
Ensembl chr 5:180,657,408...181,005,593 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 treatment ISO RGD PMID:22982628 RGD:151708740 NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G DDX54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:110,763,319...110,790,364
Ensembl chr12:114,144,664...114,173,127 		JBrowse link
G DPP10 dipeptidyl peptidase like 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr2B:1,373,640...2,775,574
Ensembl chr2B:114,920,488...116,362,960 		JBrowse link
G EFNB2 ephrin B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936 		JBrowse link
G ERGIC3 ERGIC and golgi 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chr20:31,867,571...31,883,181
Ensembl chr20:32,986,131...33,001,737 		JBrowse link
G EXOSC2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719 		JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FOXM1 forkhead box M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr11:57,329,163...57,332,248 JBrowse link
G GJB1 gap junction protein beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:30537251 RGD:150520178 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:30537251 RGD:150520178 NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		JBrowse link
G GSTA4 glutathione S-transferase alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20180811 NCBI chr 6:52,532,942...52,550,404
Ensembl chr 6:54,171,318...54,188,976 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:100,853,682...100,866,892
Ensembl chr10:104,313,024...104,325,733 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO associated with stomach disease
CTD Direct Evidence: marker/mechanism
associated with Metabolic Syndrome X
associated with Diabetes Mellitus, Experimental		 RGD
CTD		 PMID:2563599 PMID:7585603 PMID:15526359 PMID:16332721 PMID:20188851 More... RGD:10401933 RGD:10401942 RGD:10401944 RGD:14700971 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 4:100,495,205...100,540,589
Ensembl chr 4:111,067,336...111,113,868 		JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:171,685,512...171,686,527
Ensembl chr 5:178,757,667...178,758,676 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INSR insulin receptor ISO associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967 		JBrowse link
G KLF7 KLF transcription factor 7 ISO CTD Direct Evidence: therapeutic CTD PMID:38184286 NCBI chr2B:94,307,334...94,399,553
Ensembl chr2B:212,448,337...212,525,403 		JBrowse link
G KRT8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:35,855,367...35,863,248
Ensembl chr12:36,634,582...36,642,564 		JBrowse link
G LOC100970584 cytochrome b-c1 complex subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941
G LOC100987752 actin alpha cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782 		JBrowse link
G LOC100988550 signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr10:45,806,748...45,936,362 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 5:175,437,167...175,495,469
Ensembl chr 5:182,748,381...182,795,135 		JBrowse link
G MDM2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:9850086 RGD:9685350 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099 		JBrowse link
G MPO myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741 		JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NOP16 NOP16 nucleolar protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:171,680,699...171,685,361
Ensembl chr 5:178,751,464...178,757,841 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799 		JBrowse link
G PBLD phenazine biosynthesis like protein domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:64,766,873...64,817,055
Ensembl chr10:67,077,445...67,126,980 		JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:115,716,953...115,726,412
Ensembl chr12:119,093,952...119,105,054 		JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790 		JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 6:36,730,669...36,735,954 JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D ISO RGD PMID:12021784 RGD:1599171 NCBI chr17:54,698,338...54,761,889
Ensembl chr17:59,824,566...59,887,015 		JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:63,995,566...64,347,679
Ensembl chr 3:65,377,760...65,723,662 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:47,642,312...48,935,188
Ensembl chr10:49,779,211...51,064,882 		JBrowse link
G PSCA prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 8:139,384,002...139,394,993
Ensembl chr 8:142,435,849...142,438,401 		JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:135,162,701...135,211,389
Ensembl chr 5:141,294,395...141,329,952 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G SFTPD surfactant protein D ISO protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:30537251 RGD:150520178 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SIRPA signal regulatory protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr20:2,006,994...2,052,894
Ensembl chr20:1,773,271...1,818,106 		JBrowse link
G SIX3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr2A:45,038,634...45,072,867 JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr20:970,380...986,368
Ensembl chr20:739,556...755,486 		JBrowse link
G SMAD3 SMAD family member 3 ISO protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185 		JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:24680176 RGD:12903951 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:30537251 RGD:150520178 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G SOCS4 suppressor of cytokine signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr14:35,614,238...35,636,531
Ensembl chr14:53,904,783...53,906,105 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO mRNA:decreased expression:stomach mucosa (rat) RGD PMID:30537251 RGD:150520178 NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
G SULF1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chr 8:65,992,961...66,194,112
Ensembl chr 8:67,744,801...67,848,704 		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 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400 		JBrowse link
G TFF3 trefoil factor 3 ISO protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr21:28,627,191...28,631,341
Ensembl chr21:41,948,696...41,952,268 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:colon RGD PMID:22242189 RGD:151347836 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		JBrowse link
G TMEM132D transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:126,695,759...127,517,557 JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:193,254,017...193,302,863 JBrowse link
G TP53 tumor protein p53 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21317887 PMID:28573231 RGD:14995494 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TPM4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr19:15,557,683...15,593,143
Ensembl chr19:16,540,805...16,575,312 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124 		JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:39,130,198...39,173,238
Ensembl chr 1:40,456,432...40,499,187 		JBrowse link
G TSC2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G TTLL9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr20:28,164,239...28,238,727
Ensembl chr20:29,303,460...29,367,457 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G WSCD1 WSC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:6,119,168...6,175,306
Ensembl chr17:6,109,559...6,165,369 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:61,650,020...61,656,674
Ensembl chr11:64,975,525...64,980,110 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 3:111,445,520...112,275,946
Ensembl chr 3:118,389,250...118,431,453 		JBrowse link
G ZBTB8OS zinc finger and BTB domain containing 8 opposite strand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:31,913,890...31,944,132
Ensembl chr 1:33,060,314...33,111,089 		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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		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 chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766 		JBrowse link
G GCG glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:23554136 RGD:13210771 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:23467982 RGD:13210776 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:23467982 RGD:13210776 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:8449605 RGD:13432056 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G PTCH1 patched 1 ISO DNA:hypermethylation:colon RGD PMID:22945423 RGD:150520176 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G TGFB2 transforming growth factor beta 2 treatment ISO RGD PMID:17293967 RGD:13432080 NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041 		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 chr10:89,817,623...89,822,024
Ensembl chr10:93,330,460...93,334,105 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein severity ISO DNA:mutation:cds: p.Ala40Glu (human) RGD PMID:30972880 RGD:28867225 NCBI chr15:19,316,854...19,328,425 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		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 chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176 		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 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762 		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 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815 		JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324 		JBrowse link
G CCND1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295 		JBrowse link
G CCNG1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728 		JBrowse link
G CD274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046 		JBrowse link
G CDH1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		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 chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression ISO protein:increased expression
DNA:hypermethylation
protein:increased expression:uterine cervix		 RGD PMID:16406113 PMID:16778587 PMID:17415114 PMID:17910346 RGD:2289675 RGD:2289676 RGD:2296054 RGD:2296058 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156 		JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415 		JBrowse link
G CTNNA1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547 		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 chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987 		JBrowse link
G FASLG Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410 		JBrowse link
G HDAC2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642 		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 chr 7:46,564,234...46,573,145 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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G MGP matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523 		JBrowse link
G MLH1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801 		JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MSH2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		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 chr12:130,849,353...130,858,776 JBrowse link
G PHB1 prohibitin 1 ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr13:59,821,614...59,829,671 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G SKP2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311 		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 chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425 		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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207 		JBrowse link
G TP63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
G TP73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:113,052,164...113,105,160
Ensembl chr  X:123,232,643...123,278,606 		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 susceptibility ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr10:44,703,720...44,784,948 JBrowse link
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C3 aldo-keto reductase family 1 member C3 ISO protein:increased expression:myoepithelial cells: RGD PMID:16735089 RGD:10053629 NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812 		JBrowse link
G ANG angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393 		JBrowse link
G ANXA1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779 		JBrowse link
G AR androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G AREG amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159 		JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634 		JBrowse link
G BRCA1 BRCA1 DNA repair associated treatment ISO RGD PMID:25861310 RGD:127284854 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815 		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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340 		JBrowse link
G CASP6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 4:102,186,215...102,201,992
Ensembl chr 4:112,753,988...112,768,836 		JBrowse link
G CCND1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCND2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		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 chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304 		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 chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885 		JBrowse link
G HOXB13 homeobox B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598 		JBrowse link
G KLK10 kallikrein related peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr19:47,980,177...47,987,617
Ensembl chr19:56,869,530...56,876,649 		JBrowse link
G LDHB lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr12:64,640,994...64,663,418
Ensembl chr12:67,245,130...67,267,487 		JBrowse link
G LOC100988550 signal transducer and activator of transcription 5A ISO protein:decreased expression:breast
protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15609129 PMID:16133357 RGD:2291930 RGD:2291932 NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr 3:194,084,037...194,174,010
Ensembl chr 3:204,023,357...204,111,507 		JBrowse link
G PGR progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr11:95,997,677...96,098,866 JBrowse link
G PRKCA protein kinase C alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020 		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 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TFF1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192 		JBrowse link
G TOP2A DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207 		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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TYMP thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr22:30,772,088...30,776,618 JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		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 9:21,803,862...21,831,322 JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ductal carcinoma in situ;protein:increased phosphorylation:breast RGD PMID:16341149 RGD:1643333 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:16024599 RGD:2317522 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688 		JBrowse link
G ANGPT1 angiopoietin 1 ISO associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783 		JBrowse link
G CASP1 caspase 1 ISO associated with Carcinoma, Lobular RGD PMID:17375183 RGD:2298754 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149 		JBrowse link
G CCNB1 cyclin B1 ISO associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332 		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 9:21,803,862...21,831,322 JBrowse link
G CTNNB1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G ESR1 estrogen receptor 1 ISO protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G ESR2 estrogen receptor 2 ISO protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303 		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 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762 		JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132 		JBrowse link
G MKI67 marker of proliferation Ki-67 ISO associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G PDPN podoplanin ISO mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584 		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 6:30,910,421...30,916,465
Ensembl chr 6:31,775,343...31,781,426 		JBrowse link
G PTEN phosphatase and tensin homolog ISO associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:urinary bladder
protein:increased expression:penis, skin		 RGD PMID:14499677 PMID:14871981 RGD:2300087 RGD:2300088 NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020 		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 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		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 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335 		JBrowse link
G SFN stratifin ISO mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580 		JBrowse link
G SFRP1 secreted frizzled related protein 1 ISO testicular CIS; mRNA:increased expression:tumor RGD PMID:15123780 RGD:2301712 NCBI chr 8:40,507,027...40,555,053 JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
G ZNF354A zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr 5:173,869,993...173,931,852
Ensembl chr 5:181,126,400...181,141,632 		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 chr11:65,500,074...65,539,158
Ensembl chr11:68,794,162...68,823,857 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:14735473 RGD:14701001 Ensembl chr 1:127,979,238...128,010,411 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 chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		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 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364 		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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G AXIN2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 RGD:8662371 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:18507060 RGD:14700975 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G LOC100994157 histone H2AX disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr11:113,932,078...113,933,679 JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733 		JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:oral mucosa:
protein:increased expression:tongue:		 RGD PMID:12167434 PMID:23776093 RGD:8547855 RGD:8547871 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIROP ciliated left-right organizer metallopeptidase ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar PMID:25741868 NCBI chr14:3,919,246...3,926,039
Ensembl chr14:22,015,750...22,021,372 		JBrowse link
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991 		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 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003 		JBrowse link
G ANG angiogenin ISO RGD PMID:19276260 RGD:2325697 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542 		JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G AREG amphiregulin ISO protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142 		JBrowse link
G ATM ATM serine/threonine kinase ISO protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G AURKA aurora kinase A ISO protein:increased expression:prostate gland RGD PMID:15754349 PMID:16707419 RGD:2293877 RGD:2293883 NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339 		JBrowse link
G AURKB aurora kinase B ISO RGD PMID:16707419 RGD:2293877 NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129 		JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chr 1:178,907,317...178,911,410
Ensembl chr 1:183,201,297...183,205,404 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948 		JBrowse link
G CCND1 cyclin D1 ISO mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCNE1 cyclin E1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295 		JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:18691549 PMID:20932324 RGD:2299085 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G CREB3L4 cAMP responsive element binding protein 3 like 4 severity ISO RGD PMID:17270658 RGD:13504714 NCBI chr 1:129,324,479...129,331,204
Ensembl chr 1:132,953,062...132,959,696 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:19700748 RGD:7257711 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G ESR2 estrogen receptor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16220300 PMID:22025007 RGD:8553211 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303 		JBrowse link
G FGF6 fibroblast growth factor 6 ISO protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chr12:4,543,776...4,555,352
Ensembl chr12:4,466,975...4,478,459 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO RGD PMID:12208767 RGD:2301097 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:18068632 RGD:2298702 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:14695195 RGD:2301192 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FZD4 frizzled class receptor 4 ISO protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chr11:81,973,680...82,007,733
Ensembl chr11:85,611,989...85,616,065 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:22581815 PMID:24312188 RGD:10401940 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:19117991 RGD:2314913 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO RGD PMID:27067790 RGD:11531513 NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980 		JBrowse link
G LOC100986475 metallothionein-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16574721 NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093 		JBrowse link
G LRP1 LDL receptor related protein 1 ISO protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 disease_progression ISO protein:increased expression RGD PMID:17577251 RGD:2293334 NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:10861747 RGD:10059615 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G PHB1 prohibitin 1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790 		JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chr 6:36,730,669...36,735,954 JBrowse link
G PRSS8 serine protease 8 disease_progression ISO mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chr16:23,833,127...23,837,466
Ensembl chr16:31,500,225...31,504,623 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18268330 PMID:19081794 PMID:22581815 RGD:2292497 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G RXRA retinoid X receptor alpha ISO protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chr15:24,425,816...24,469,085
Ensembl chr15:42,758,455...42,798,815 		JBrowse link
G SMAD4 SMAD family member 4 ISO protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559 		JBrowse link
G STK11 serine/threonine kinase 11 ISO RGD PMID:18381428 RGD:2291943 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:16940965 RGD:2290433 NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192 		JBrowse link
G TOP2B DNA topoisomerase II beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr 3:25,499,239...25,566,029
Ensembl chr 3:25,828,879...25,896,912 		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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
Uterine Cervical Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) RGD PMID:16803516 RGD:36049759 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		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 chr11:47,161,345...47,185,526
Ensembl chr11:47,714,723...47,738,761 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		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 chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372 		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 chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		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 chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr19:42,293,515...42,300,592
Ensembl chr19:50,887,900...50,898,689 		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 6:43,168,195...43,205,811
Ensembl chr 6:44,462,225...44,495,704 		JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO MouseDO NCBI chr16:49,729,906...49,763,002
Ensembl chr16:69,116,539...69,148,423 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		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 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254 		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 chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		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 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254 		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 chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		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 chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		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 chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr19:42,293,515...42,300,592
Ensembl chr19:50,887,900...50,898,689 		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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		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 chr11:47,161,345...47,185,526
Ensembl chr11:47,714,723...47,738,761 		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 chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G MRTFB myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:12,999,165...13,195,012
Ensembl chr16:14,493,351...14,613,860 		JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr16:13,363,879...13,556,054
Ensembl chr16:14,787,881...14,977,786 		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 chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		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 6:43,168,195...43,205,811
Ensembl chr 6:44,462,225...44,495,704 		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 chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		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 chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    disease of cellular proliferation 7465
      pre-malignant neoplasm 276
        Aberrant Crypt Foci 10
        Endometrial Intraepithelial Neoplasia 6
        Erythroplasia 0
        Leukoplakia + 13
        Preleukemias 0
        Uterine Cervical Dysplasia + 2
        actinic keratosis + 4
        conjunctival intraepithelial neoplasm + 0
        in situ carcinoma + 140
        lymphomatoid granulomatosis + 0
        xeroderma pigmentosum + 19
paths to the root