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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:Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)
Synonyms:exact_synonym: Precancerous Condition;   Precancerous Conditions;   Preneoplastic Condition;   Preneoplastic Conditions
 primary_id: MESH:D011230;   RDO:0005175
For additional species annotation, visit the Alliance of Genome Resources.


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 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP associated with Colonic Neoplasms RGD PMID:24959250 RGD:11039027 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Acy1 aminoacylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 8:115,134,792...115,140,171
Ensembl chr 8:115,134,765...115,140,080
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
G Anxa4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:118,538,775...118,595,591
Ensembl chr 4:118,538,777...118,595,580
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Atm ATM serine/threonine kinase IEP protein:decreased expression:hepatocyte RGD PMID:11751435 RGD:1599367 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcat2 branched chain amino acid transaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:101,553,900...101,572,103
Ensembl chr 1:101,554,642...101,572,080
JBrowse link
G Bid BH3 interacting domain death agonist treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
JBrowse link
G Casp3 caspase 3 treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 7:123,362,471...123,376,930
Ensembl chr 7:123,364,312...123,376,221
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19184424 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment IEP RGD PMID:23857431 RGD:10043364 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IDA
ISO
DNA:hypermethylation
CTD Direct Evidence: marker/mechanism
CTD PMID:24991542, PMID:12547284 RGD:1600820 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdx2 caudal type homeo box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29439001 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Chn2 chimerin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:84,423,708...84,452,989
Ensembl chr 4:84,194,347...84,454,500
JBrowse link
G Cish cytokine inducible SH2-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 8:116,054,547...116,059,494
Ensembl chr 8:116,054,465...116,060,723
JBrowse link
G Cog4 component of oligomeric golgi complex 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
JBrowse link
G Col23a1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr10:34,846,618...34,934,991
Ensembl chr10:34,903,343...34,933,539
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Ddx54 DEAD-box helicase 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:41,469,642...41,484,887
Ensembl chr12:41,470,557...41,485,122
JBrowse link
G Dpp10 dipeptidyl peptidase like 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr13:39,430,590...41,173,706
Ensembl chr13:39,434,217...39,643,361
JBrowse link
G Efnb2 ephrin B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr16:86,631,151...86,672,050
Ensembl chr16:86,631,064...86,675,049
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26390243 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
JBrowse link
G Ergic3 ERGIC and golgi 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27588471 NCBI chr 3:151,553,567...151,563,318
Ensembl chr 3:151,553,578...151,563,364
JBrowse link
G Exosc2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:10,151,734...10,161,997
Ensembl chr 3:10,151,284...10,161,989
JBrowse link
G Fas Fas cell surface death receptor treatment IDA associated with gastric adenocarcinoma RGD PMID:29588340 RGD:13792594 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxm1 forkhead box M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13679865 NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305
JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21785164 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2559087 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20180811 NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment IEP
ISO
associated with stomach disease
CTD Direct Evidence: marker/mechanism
associated with Metabolic Syndrome X
associated with Diabetes Mellitus, Experimental
CTD PMID:2563599 PMID:7585603 PMID:15526359 PMID:16332721 PMID:20188851 PMID:21785164, PMID:21092749, PMID:28182092, PMID:23981577, PMID:22272023 RGD:10401933, RGD:14700971, RGD:10401944, RGD:10401942 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with stomach disease RGD PMID:28182092 RGD:14700971 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Higd2a HIG1 hypoxia inducible domain family, member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:10,558,714...10,559,638
Ensembl chr17:10,558,714...10,559,627
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2675901 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9362446 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16092956 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12619036 NCBI chr14:87,448,716...87,453,783
Ensembl chr14:87,448,692...87,453,785
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Insr insulin receptor IEP associated with Carcinoma, Hepatocellular RGD PMID:21411721 RGD:10403043 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9466558 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Krt8 keratin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 7:143,596,511...143,603,745
Ensembl chr 7:143,596,511...143,603,803
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr12:2,546,278...2,555,310
Ensembl chr12:2,548,218...2,555,164
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21317887 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 IEP
ISO
associated with Liver Neoplasms, Experimental;protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:21317887, PMID:18081878 RGD:2304231 NCBI chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:14555611 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir125a microRNA 125a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
JBrowse link
G Mir151 microRNA 151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:114,485,547...114,485,643 JBrowse link
G Mir196b microRNA 196b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 4:82,199,056...82,199,140
Ensembl chr 4:82,199,056...82,199,140
JBrowse link
G Mir200b microRNA 200b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir211 microRNA 211 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
JBrowse link
G Mir212 microRNA 212 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr10:62,014,702...62,014,812
Ensembl chr10:62,014,702...62,014,812
JBrowse link
G Mir26b microRNA 26b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 9:81,675,275...81,675,359
Ensembl chr 9:81,675,275...81,675,359
JBrowse link
G Mir290 microRNA 290 EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:64,538,705...64,538,785
Ensembl chr 1:64,538,705...64,538,785
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:109,286,463...109,286,544
Ensembl chr 7:109,286,463...109,286,544
JBrowse link
G Mir324 microRNA 324 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr10:56,621,126...56,621,208
Ensembl chr10:56,621,124...56,621,212
JBrowse link
G Mir331 microRNA 331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:34,881,095...34,881,190
Ensembl chr 7:34,881,095...34,881,190
JBrowse link
G Mir347 microRNA mir-347 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526
G Mir349 microRNA 349 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:130,146,518...130,146,614
Ensembl chr 7:130,146,518...130,146,614
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Mir652 microRNA 652 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:114,002,534...114,002,614
Ensembl chr  X:114,002,534...114,002,614
JBrowse link
G Mir92b microRNA 92b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 2:188,541,034...188,541,116
Ensembl chr 2:188,541,034...188,541,116
JBrowse link
G Mir98 microRNA 98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr  X:21,583,875...21,583,982
Ensembl chr  X:21,583,875...21,583,982
JBrowse link
G Mir99b microRNA 99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 1:59,704,216...59,704,285
Ensembl chr 1:59,704,216...59,704,285
JBrowse link
G Mirlet7b microRNA let-7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr 7:126,590,627...126,590,711
Ensembl chr 7:126,590,627...126,590,711
JBrowse link
G Mirlet7d microRNA let-7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:21035526 NCBI chr17:16,419,980...16,420,077
Ensembl chr17:16,419,980...16,420,077
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:9850086 RGD:9685350 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14580687 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP associated with Liver Neoplasms RGD PMID:20045035 RGD:10413878 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nop16 NOP16 nucleolar protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr17:10,559,811...10,564,728
Ensembl chr17:10,559,680...10,564,733
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 PMID:25656644 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
JBrowse link
G Pbld1 phenazine biosynthesis-like protein domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr20:27,103,300...27,118,650
Ensembl chr20:27,103,317...27,117,663
JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr12:45,026,948...45,031,148
Ensembl chr12:45,026,886...45,031,145
JBrowse link
G Phb prohibitin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr10:83,476,107...83,488,878
Ensembl chr10:83,476,107...83,488,878
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr20:8,165,423...8,169,557
Ensembl chr20:8,165,307...8,169,555
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO RGD PMID:12021784 RGD:1599171 NCBI chr10:72,909,550...72,945,884
Ensembl chr10:72,909,550...72,945,884
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 1:248,982,039...250,300,952 JBrowse link
G Psca prostate stem cell antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 7:116,090,189...116,091,955
Ensembl chr 7:116,090,189...116,091,955
JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr18:28,781,267...28,832,429
Ensembl chr18:28,781,349...28,832,428
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12151359 PMID:19522023 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression:lung RGD PMID:18779194 RGD:4143498 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sirpa signal-regulatory protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 3:122,113,735...122,152,478
Ensembl chr 3:122,114,108...122,152,477
JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
G Smad3 SMAD family member 3 IDA protein:increased phosphorylation:liver RGD PMID:24680176 RGD:12903951 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Smad4 SMAD family member 4 treatment IEP RGD PMID:24680176 RGD:12903951 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Socs4 suppressor of cytokine signaling 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr15:24,056,383...24,070,868
Ensembl chr15:24,056,383...24,070,857
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 PMID:21472284 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:26297436, PMID:23596790 RGD:8694319 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link
G Sulf1 sulfatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127996 NCBI chr 5:5,999,520...6,186,901
Ensembl chr 5:5,999,475...6,186,329
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 IEP RGD PMID:16497704 RGD:9586726 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Tff3 trefoil factor 3 IEP protein:decreased expression:colon RGD PMID:17847023 RGD:7349371 NCBI chr20:9,850,800...9,855,481
Ensembl chr20:9,850,803...9,855,481
JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr12:31,934,343...32,607,768
Ensembl chr12:31,934,343...32,607,370
JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992
JBrowse link
G Tp53 tumor protein p53 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:21317887, PMID:28573231 RGD:14995494 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15986332 NCBI chr16:19,385,810...19,399,851
Ensembl chr16:19,385,736...19,399,903
JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21472284 NCBI chr 5:140,711,943...140,756,893
Ensembl chr 5:140,712,583...140,756,085
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26297436 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Ttll9 tubulin tyrosine ligase like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 3:148,426,008...148,485,370
Ensembl chr 3:148,438,939...148,485,360
JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 7:12,171,146...12,175,838
Ensembl chr 7:12,171,185...12,175,835
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12399228 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wscd1 WSC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr10:58,330,711...58,372,966
Ensembl chr10:58,332,588...58,371,196
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 1:220,470,070...220,474,131
Ensembl chr 1:220,470,089...220,474,496
JBrowse link
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28220687 NCBI chr11:62,014,925...62,561,113
Ensembl chr11:62,014,925...62,451,184
JBrowse link
G Zbtb8os zinc finger and BTB domain containing 8 opposite strand ISO CTD Direct Evidence: marker/mechanism CTD PMID:19233941 NCBI chr 5:147,535,584...147,547,252
Ensembl chr 5:147,535,525...147,547,047
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10965019 PMID:12351151 PMID:14507667 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP
IDA
mRNA, protein:increased expression:colon, epithelial cell RGD PMID:1576709, PMID:8449605 RGD:13210754, RGD:13432056 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22323126 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:23554136 RGD:13210771 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO RGD PMID:23467982 RGD:13210776 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO RGD PMID:23467982 RGD:13210776 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:8449605 RGD:13432056 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Tgfb2 transforming growth factor, beta 2 treatment IEP RGD PMID:17293967 RGD:13432080 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
actinic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO RGD PMID:22179182 RGD:13782258 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
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 3:110,618,256...110,638,024
Ensembl chr 3:110,618,298...110,638,046
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.A481T (rs74653330) (human) RGD PMID:24617981 RGD:9491831 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:9274625 RGD:7394827 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
adenocarcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf FA complementation group F disease_progression ISO DNA:hypermethylation:promoter: RGD PMID:14647419 RGD:11049137 NCBI chr 1:107,229,516...107,232,321
Ensembl chr 1:107,231,292...107,232,305
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 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
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 chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18561741 RGD:2298889 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:deletions:exon RGD PMID:10442317 RGD:2298942 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Cadm1 cell adhesion molecule 1 severity ISO RGD PMID:17009984 RGD:2289089 NCBI chr 8:51,858,906...52,200,591
Ensembl chr 8:52,127,399...52,189,722
JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccne1 cyclin E1 ISO protein:increased expression:uterine cervix RGD PMID:18301453 RGD:2293574 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:uterine cervix RGD PMID:16845792 RGD:2316022 NCBI chr10:25,903,925...25,910,298
Ensembl chr10:25,903,911...25,910,325
JBrowse link
G Cd274 CD274 molecule severity ISO associated with Papillomavirus Infections; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:uterine cervix RGD PMID:9358772 RGD:2293549 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:uterine cervix RGD PMID:17894941 RGD:2289490 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:epithelial cell: RGD PMID:9546362 RGD:8662446 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO protein:increased expression:uterine cervix
DNA:hypermethylation
RGD PMID:16406113, PMID:17415114, PMID:17910346, PMID:16778587 RGD:2296058, RGD:2289676, RGD:2289675, RGD:2296054 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO protein:increased expression
protein:increased expression:uterine cervix
RGD PMID:17910346, PMID:17415114 RGD:2289675, RGD:2289676
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO protein:increased expression:uterine cervix RGD PMID:17632454 RGD:2289695 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Ctnna1 catenin alpha 1 disease_progression ISO protein:decreased expression:uterine cervix RGD PMID:11161853 RGD:2289797 NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
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 chr11:72,164,566...72,378,895
Ensembl chr11:72,163,749...72,378,895
JBrowse link
G Faslg Fas ligand ISO associated with Papillomavirus Infections RGD PMID:17433060 RGD:2290052 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:uterine cervix RGD PMID:19147762 RGD:2306200 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:14675666, PMID:17709267 RGD:2290021, RGD:2290004 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) RGD PMID:25893807 RGD:36174015 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:17960611 RGD:2293584 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mlh1 mutL homolog 1 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Msh2 mutS homolog 2 ISO protein:increased expression:uterine cervix RGD PMID:15807307 RGD:2293515 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303386 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Pdcd1 programmed cell death 1 severity ISO associated with Papillomavirus Infections; protein:increased expression:T cell RGD PMID:23521696 RGD:40822817 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Phb prohibitin ISO protein:increased expression:uterine cervix RGD PMID:16426920 RGD:2292398 NCBI chr10:83,476,107...83,488,878
Ensembl chr10:83,476,107...83,488,878
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190800 NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:uterine cervix RGD PMID:17672936 RGD:2298701 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:uterine cervix, epithelial cell RGD PMID:18565574 RGD:2299119 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO associated with Adenocarcinoma RGD PMID:18234283 RGD:2299896 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit disease_progression ISO protein:altered localization, increased expression:nucleus, uterine cervix RGD PMID:16850495 RGD:2298759 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO associated with Papillomavirus Infections RGD PMID:18351579, PMID:15458897, PMID:10073700 RGD:2306230, RGD:2306232, RGD:2314703 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Skp2 S-phase kinase associated protein 2 severity ISO associated with Papillomavirus Infections RGD PMID:19094580 RGD:2315036 NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
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 chr10:75,334,200...75,341,197
Ensembl chr10:75,335,146...75,341,197
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased serine phosphorylation:cervix epithelium
protein:increased expression:nucleus
RGD PMID:16005944, PMID:17110342 RGD:2298536, RGD:2291916 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Terc telomerase RNA component disease_progression ISO DNA:amplification:uterine cervix, epithelial cell RGD PMID:15793301 RGD:2291968 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO protein:increased expression:uterine cervix RGD PMID:17644806 RGD:2291985 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Thrb thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:11483913 RGD:2315099 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Tlr9 toll-like receptor 9 disease_progression ISO RGD PMID:17440926 RGD:2301099 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Top2a DNA topoisomerase II alpha ISO RGD PMID:19051821 RGD:2315126 NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
JBrowse link
G Tp63 tumor protein p63 disease_progression ISO RGD PMID:16804722 RGD:2315435 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Tp73 tumor protein p73 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:11870517 RGD:2290589 NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:uterine cervix RGD PMID:19723043 RGD:2315456 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:uterine cervix RGD PMID:18325467 RGD:2315850 NCBI chr  X:128,409,425...128,455,786
Ensembl chr  X:128,409,472...128,453,000
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7063265 PMID:9443879 PMID:10196384 PMID:10767341 PMID:11809892 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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 chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Ang angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Anxa1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Ar androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Areg amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Brca2 BRCA2, DNA repair associated onset ISO DNA:missense mutation: :5972C>T RGD PMID:16280055 RGD:2289048 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Casp6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 2:235,341,326...235,353,715
Ensembl chr 2:235,341,365...235,353,967
Ensembl chr 2:235,341,365...235,353,967
JBrowse link
G Ccnd1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO protein:increased expression:breast RGD PMID:15788662, PMID:17119686 RGD:2289981, RGD:2289931 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism
CTD PMID:20526721, PMID:16080559 RGD:2306227 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hoxb13 homeo box B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr10:84,031,955...84,034,228
Ensembl chr10:84,031,955...84,034,228
JBrowse link
G Klk10 kallikrein related-peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr 1:99,718,275...99,722,743
Ensembl chr 1:99,718,907...99,722,284
JBrowse link
G Ldhb lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr 4:176,701,980...176,719,999
Ensembl chr 4:176,701,983...176,720,012
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902
JBrowse link
G Pgr progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 8:7,128,656...7,187,796
Ensembl chr 8:7,128,656...7,187,796
JBrowse link
G Prkca protein kinase C, alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA, protein:decreased expression:breast RGD PMID:18199541, PMID:18237383 RGD:2300203, RGD:2300199 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr 7:36,495,496...36,500,878
Ensembl chr 7:36,495,480...36,499,784
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
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
CTD PMID:15609129, PMID:15609129, PMID:16133357 RGD:2291932, RGD:2291930 NCBI chr10:88,764,732...88,789,060
Ensembl chr10:88,764,732...88,789,057
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tff1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr20:9,892,124...9,895,984
Ensembl chr20:9,892,124...9,895,984
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Top2a DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:breast RGD PMID:17119686 RGD:2289931 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ductal carcinoma in situ;protein:increased phosphorylation:breast RGD PMID:16341149 RGD:1643333 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:16024599 RGD:2317522 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with Testicular Neoplasms;protein:increased expression:testis RGD PMID:10547581 RGD:2315616 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Angpt1 angiopoietin 1 IEP associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland RGD PMID:15459484 RGD:1626167 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Casp1 caspase 1 ISO associated with Carcinoma, Lobular RGD PMID:17375183 RGD:2298754 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Ccnb1 cyclin B1 ISO associated with Vulvar Neoplasms;protein:increased expression:vulva RGD PMID:12610511 RGD:2296040 NCBI chr 2:30,782,133...30,791,106
Ensembl chr 2:30,783,915...30,791,221
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 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:9496256 RGD:2289836 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Esr1 estrogen receptor 1 ISO protein:increased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 ISO protein:decreased expression:breast RGD PMID:17924141 RGD:2290024 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO testicular CIS; mRNA:increased expression:tumor (human) RGD PMID:15123780 RGD:2301712 NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO associated with Pancreatic Neoplasms;protein:increased expression:pancreas RGD PMID:20350215 RGD:2317703 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pdpn podoplanin ISO mRNA:increased expression:testis RGD PMID:16736189 RGD:2292235 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO associated with Testicular Neoplasms;protein:increased expression:semen RGD PMID:17996359 RGD:2292428 NCBI chr20:3,747,231...3,751,994
Ensembl chr20:3,747,221...3,751,994
JBrowse link
G Pten phosphatase and tensin homolog ISO associated with Endometrial Neoplasms;protein:decreased expression:endometrium RGD PMID:17349568 RGD:2289828 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:urinary bladder
protein:increased expression:penis, skin
RGD PMID:14499677, PMID:14871981 RGD:2300088, RGD:2300087 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreas
CTD PMID:10582676 PMID:10873095, PMID:17652141, PMID:18617777 RGD:2317187, RGD:2317186 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Sfn stratifin ISO mRNA:decreased expression:vulva RGD PMID:11896620 RGD:2299936 NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633
JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO testicular CIS; mRNA:increased expression:tumor (human) RGD PMID:15123780 RGD:2301712 NCBI chr16:73,372,007...73,410,777
Ensembl chr16:73,372,007...73,410,777
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 IDA associated with Lung Neoplasms RGD PMID:21530494 RGD:10045659 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
G Zfp354a zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr10:36,586,495...36,600,172
Ensembl chr10:36,589,181...36,600,469
JBrowse link
Leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cttn cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27148699 NCBI chr 1:217,602,698...217,638,196
NCBI chr 1:215,255,385...215,290,882
Ensembl chr 1:217,602,698...217,638,152
Ensembl chr 1:217,602,698...217,638,152
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:14735473 RGD:14701001 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:16475728 RGD:14701002 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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 chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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 chr13:87,818,456...87,847,223
Ensembl chr13:87,818,391...87,847,263
JBrowse link
oral mucosa leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator IEP protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097, PMID:10873097 RGD:8662371, RGD:8662371 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Tp53 tumor protein p53 ISO
IEP
IMP
protein:increased expression:oral mucosa:
protein:increased expression:tongue:
DNA:mutations:cds:
RGD PMID:23776093, PMID:12167434, PMID:12167434 RGD:8547855, RGD:8547871, RGD:8547871 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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
ClinVar Annotator: match by OMIM:601675
OMIM
ClinVar
PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9758621 PMID:11242112 PMID:11709541 PMID:20944642 PMID:23232694 PMID:24728327 PMID:25620205 PMID:25741868 PMID:28492532 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,978,345...46,985,032
Ensembl chr 1:46,978,458...46,985,032
JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:49,955,060...49,990,982
Ensembl chr17:49,955,060...49,991,059
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 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Ang angiogenin ISO RGD PMID:19276260 RGD:2325697 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO protein:increased expression, altered localization:prostate, cytoplasm RGD PMID:11309329 RGD:2315666 NCBI chr15:27,849,943...27,852,083
Ensembl chr15:27,849,979...27,852,082
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Areg amphiregulin ISO protein:increased expression:prostate gland RGD PMID:14716741 RGD:2292659 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
JBrowse link
G Atm ATM serine/threonine kinase ISO protein:increased serine phosphorylation:prostate gland RGD PMID:16997395 RGD:2293869 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Aurka aurora kinase A ISO protein:increased expression:prostate gland RGD PMID:15754349, PMID:16707419 RGD:2293883, RGD:2293877 NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
JBrowse link
G Aurkb aurora kinase B ISO RGD PMID:16707419 RGD:2293877 NCBI chr10:55,625,860...55,632,399
Ensembl chr10:55,626,741...55,634,991
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO protein:decreased expression:prostate gland RGD PMID:11470758 RGD:2289070 NCBI chr13:50,913,185...50,916,944
Ensembl chr13:50,913,180...50,916,982
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO protein:increased expression:prostate gland RGD PMID:15221992 RGD:2293206 NCBI chr 8:22,577,723...22,622,555
Ensembl chr 8:22,577,715...22,622,560
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA, protein:decreased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccne1 cyclin E1 ISO mRNA, protein:increased expression:prostate gland RGD PMID:14968434 RGD:2289283 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: therapeutic CTD PMID:20932324, PMID:18691549 RGD:2299085 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 severity ISO RGD PMID:17270658 RGD:13504714 NCBI chr 2:189,596,657...189,602,243
Ensembl chr 2:189,595,415...189,602,143
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:prostate gland RGD PMID:12381783 RGD:2293712 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:19700748 RGD:7257711 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581815 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Esr1 estrogen receptor 1 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16220300, PMID:22025007 RGD:8553211 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16220300, PMID:22025007 RGD:8553211 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO protein:increased expression:prostate gland RGD PMID:2289066 RGD:2301089 NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO RGD PMID:12208767 RGD:2301097 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:18068632 RGD:2298702 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:14695195 RGD:2301192 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:prostate gland RGD PMID:10893635 RGD:2301255 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fzd4 frizzled class receptor 4 ISO protein:increased expression:prostate gland RGD PMID:18068632 RGD:2298702 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Gstp1 glutathione S-transferase pi 1 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:22581815, PMID:24312188 RGD:10401940 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:prostate gland RGD PMID:15042618 RGD:2306219 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:increased expression:prostate gland RGD PMID:19171036 RGD:2306713 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:19117991 RGD:2314913 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO RGD PMID:27067790 RGD:11531513 NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
JBrowse link
G Lrp1 LDL receptor related protein 1 IEP protein:increased expression:prostate gland RGD PMID:14623925 RGD:1625030 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 disease_progression ISO RGD PMID:17577251 RGD:2293334 NCBI chr12:2,546,278...2,555,310
Ensembl chr12:2,548,218...2,555,164
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16574721 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:10861747 RGD:10059615 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Phb prohibitin ISO mRNA, protein:increased expression:prostate gland RGD PMID:18384941 RGD:2292382 NCBI chr10:83,476,107...83,488,878
Ensembl chr10:83,476,107...83,488,878
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23565217 NCBI chr20:8,165,423...8,169,557
Ensembl chr20:8,165,307...8,169,555
JBrowse link
G Prss8 serine protease 8 disease_progression ISO mRNA, protein:increased expression:prostate gland RGD PMID:12518323 RGD:2292484 NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19081794 PMID:22581815, PMID:18268330 RGD:2292497 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:altered localization RGD PMID:18468781 RGD:2300123 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:prostate gland RGD PMID:16278667, PMID:15570007 RGD:2298767, RGD:2298769 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Rxra retinoid X receptor alpha IEP protein:decreased expression:prostate RGD PMID:15318950 RGD:1643115 NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO protein:decreased expression:prostate gland RGD PMID:12955079 RGD:2299948 NCBI chr 3:114,805,919...114,828,154
Ensembl chr 3:114,805,922...114,828,154
JBrowse link
G Smad4 SMAD family member 4 ISO protein:increased expression:prostate gland RGD PMID:15017584 RGD:2300005 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:prostate gland RGD PMID:18813126 RGD:2315088 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G Stk11 serine/threonine kinase 11 ISO RGD PMID:18381428 RGD:2291943 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:16940965 RGD:2290433 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Top2b DNA topoisomerase II beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601956 NCBI chr15:10,262,972...10,319,741
Ensembl chr15:10,262,651...10,320,233
JBrowse link
G Tp63 tumor protein p63 ISO protein:decreased expression:prostate gland
CTD Direct Evidence: marker/mechanism
CTD PMID:22581815, PMID:17189982, PMID:17982114 RGD:2315434, RGD:2315433 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
Uterine Cervical Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human) RGD PMID:16803516 RGD:36049759 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddb1 damage-specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:226,657,561...226,683,356
Ensembl chr 1:226,657,561...226,683,347
JBrowse link
G Ddb2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:8798680 RGD:1601050 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:7920640 PMID:8571952 PMID:9238033 PMID:11710928 PMID:12820975 PMID:18637129 PMID:22826098 PMID:23221806 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24448499 PMID:25741868 PMID:26556299 PMID:27004399 PMID:29478780, PMID:7849702 RGD:1601068 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:26023681 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:29478780 PMID:30787465, PMID:16947863, PMID:22824526 RGD:1598912, RGD:7246919 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO DNA:deletion, point mutation:2281delTCTC, p.R788W
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar PMID:25741868, PMID:8797827, PMID:22824526 RGD:1601093, RGD:7246919 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:7951246 PMID:11841555 PMID:23370536 PMID:24033266 PMID:24700531, PMID:22824526 RGD:7246919 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 9:17,198,957...17,208,456
Ensembl chr 9:17,198,957...17,209,220
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 1:80,306,074...80,315,886
Ensembl chr 1:80,306,102...80,315,533
JBrowse link
G Polh DNA polymerase eta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD
ClinVar
PMID:17344931 PMID:18368133 PMID:18703314 PMID:22745795 PMID:24033266 PMID:25741868 NCBI chr 9:17,163,354...17,198,006
Ensembl chr 9:17,163,354...17,197,132
JBrowse link
G Terf2 telomeric repeat binding factor 2 ISS MouseDO NCBI chr19:39,271,992...39,301,506
Ensembl chr19:39,272,499...39,300,893
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 PMID:25741868 PMID:28448657 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1372102 PMID:1372103 PMID:1702221 PMID:2234061 PMID:7876263 PMID:8105686 PMID:8541864 PMID:8765158 PMID:8825598 PMID:9101292 PMID:9671271 PMID:15214909 PMID:16905156 PMID:20054342 PMID:20199544 PMID:20534089 PMID:22081045 PMID:23194742 PMID:24084170 PMID:24135642 PMID:25256075 PMID:25525159 PMID:25741868 PMID:26743599 PMID:27413738 PMID:27607234 PMID:28492532 PMID:29208038 PMID:31478152, PMID:15118671, PMID:22824526, PMID:2234061 RGD:1331525, RGD:7246919, RGD:1599876 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10766188 PMID:11511294 PMID:15654957 PMID:16081512 PMID:17079196 PMID:17084680 PMID:18414213 PMID:19434073 PMID:19609301 PMID:20054342 PMID:21047201 PMID:21482201 PMID:22992668 PMID:23173980 PMID:23278166 PMID:23400628 PMID:24084170 PMID:24218596 PMID:25256075 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26884178 PMID:27387384 PMID:28448657 PMID:28492532 PMID:28615033 PMID:29178624 PMID:29330851 PMID:30101995 PMID:30516811, PMID:8298653, PMID:22824526 RGD:1599878, RGD:7246919 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
JBrowse link
Xeroderma Pigmentosum G / Cockayne Syndrome 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/Cockayne syndrome
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex
ClinVar PMID:2478446 PMID:8317483 PMID:11228268 PMID:25741868 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
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: XP, group A
ClinVar Annotator: match by term: Xeroderma pigmentosum group A
ClinVar Annotator: match by term: XP, GROUP A
ClinVar
OMIM
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1702221 PMID:2234061 PMID:7876263 PMID:8105686 PMID:8541864 PMID:8765158 PMID:8825598 PMID:9101292 PMID:9671271 PMID:9753735 PMID:10862089 PMID:12509227 PMID:15214909 PMID:15661657 PMID:16098033 PMID:16491090 PMID:16905156 PMID:18414213 PMID:20054342 PMID:20199544 PMID:20534089 PMID:20574439 PMID:22081045 PMID:22190868 PMID:23194742 PMID:24063568 PMID:24135642 PMID:24704021 PMID:24728327 PMID:25256075 PMID:25326635 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26743599 PMID:27413738 PMID:27607234 PMID:27982466 PMID:28492532 PMID:29208038 PMID:31478152 NCBI chr 5:61,749,767...61,793,641
Ensembl chr 5:61,749,767...61,792,928
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: XP, group A ClinVar PMID:26227012 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
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, complementation group b
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610651
OMIM
ClinVar
PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 PMID:26467025 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:28492532 PMID:29478780 PMID:30787465 NCBI chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar PMID:18414213 PMID:19434073 PMID:21047201 PMID:22992668 PMID:23400628 PMID:25741868 PMID:28448657 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c
ClinVar Annotator: match by OMIM:278720
OMIM
ClinVar
PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:12177305 PMID:12509233 PMID:14662655 PMID:16081512 PMID:17079196 PMID:17084680 PMID:17119055 PMID:18414213 PMID:18478970 PMID:18809580 PMID:18955168 PMID:19434073 PMID:19609301 PMID:20054342 PMID:21047201 PMID:21273643 PMID:21482201 PMID:22992668 PMID:23173980 PMID:23278166 PMID:23400628 PMID:23984341 PMID:24218596 PMID:24728327 PMID:25256075 PMID:25326635 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26278556 PMID:26884178 PMID:27153395 PMID:27387384 PMID:27607234 PMID:28448657 PMID:28492532 PMID:28669926 PMID:29178624 PMID:29330851 PMID:29973595 PMID:30101995 PMID:30256826 PMID:30306255 PMID:30516811 PMID:30675318 PMID:31319225 NCBI chr 4:123,134,457...123,161,985
Ensembl chr 4:123,134,457...123,161,985
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar Annotator: match by OMIM:278730
OMIM
ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 PMID:9195225 PMID:9238033 PMID:9758621 PMID:11156600 PMID:11285194 PMID:11319176 PMID:11443545 PMID:11709541 PMID:11710928 PMID:12820975 PMID:15494306 PMID:15534626 PMID:16054878 PMID:16111488 PMID:16707649 PMID:17403617 PMID:18191955 PMID:18510924 PMID:18510925 PMID:18637129 PMID:18709642 PMID:19434073 PMID:19470925 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23221806 PMID:23232694 PMID:23276657 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26467025 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27085493 PMID:27504877 PMID:28492532 PMID:29169765 PMID:29478780 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 1:80,306,074...80,315,886
Ensembl chr 1:80,306,102...80,315,533
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: Xeroderma pigmentosum, group E
ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group E
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:278740
OMIM
ClinVar
CTD
PMID:10469312 PMID:10585395 PMID:12812979 PMID:21107348 PMID:24728327 PMID:24753253 PMID:28492532 NCBI chr 3:80,030,437...80,052,984
Ensembl chr 3:80,030,437...80,052,953
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
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F
ClinVar Annotator: match by OMIM:278760
ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM
ClinVar
PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 PMID:15886521 PMID:16550608 PMID:18767034 PMID:20221251 PMID:21612988 PMID:23407396 PMID:23623386 PMID:23623389 PMID:24004570 PMID:24033266 PMID:24412486 PMID:24465539 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:28292785 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:28878254 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:30658521 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
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
ClinVar Annotator: match by OMIM:278780
OMIM
ClinVar
PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 PMID:11219864 PMID:11841555 PMID:12060391 PMID:15082767 PMID:15682379 PMID:16550608 PMID:17466625 PMID:22821389 PMID:23255472 PMID:23370536 PMID:24033266 PMID:24700531 PMID:24728327 PMID:25741868 PMID:27104957 PMID:28492532 NCBI chr 9:50,928,847...50,970,962
Ensembl chr 9:50,925,619...50,970,955
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: Xeroderma pigmentosum variant type
ClinVar Annotator: match by term: Xeroderma pigmentosum, variant type
ClinVar Annotator: match by OMIM:278750
OMIM
ClinVar
PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:24130121 PMID:25741868 PMID:26884178 PMID:27004399 PMID:28492532 NCBI chr 9:17,163,354...17,198,006
Ensembl chr 9:17,163,354...17,197,132
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 ISS OMIM:610965 MouseDO NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome
ClinVar Annotator: match by OMIM:610965
OMIM
ClinVar
PMID:8797827 PMID:9579555 PMID:17183314 PMID:20221251 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:27356891 PMID:27528516 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29403087 PMID:29892709 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of cellular proliferation 5907
      pre-malignant neoplasm 292
        Aberrant Crypt Foci 9
        Erythroplasia 0
        Leukoplakia + 10
        Lymphomatoid Granulomatosis 0
        Preleukemias 0
        Uterine Cervical Dysplasia + 2
        actinic keratosis + 4
        conjunctival intraepithelial neoplasm + 0
        in situ carcinoma + 145
        xeroderma pigmentosum + 18
paths to the root