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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:in situ carcinoma
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Accession:DOID:8719 term browser browse the term
Definition:A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. (DO)
Synonyms:exact_synonym: Intraepithelial Carcinoma;   Intraepithelial Neoplasm;   Intraepithelial Neoplasms;   Preinvasive Carcinoma
 primary_id: MESH:D002278
 xref: ICD10CM:D09.9;   ICD9CM:230-234.99;   NCI:C2917
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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
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
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 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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      pre-malignant neoplasm 273
        in situ carcinoma 140
          Rokitansky-Aschoff Sinuses of the Gallbladder 0
          adenocarcinoma in situ 1
          anal carcinoma in situ 0
          bile duct carcinoma in situ 0
          bladder carcinoma in situ 0
          breast carcinoma in situ + 51
          bronchus carcinoma in situ 0
          endometrium carcinoma in situ 0
          esophagus carcinoma in situ 0
          eye carcinoma in situ 0
          gallbladder carcinoma in situ 0
          intestine carcinoma in situ + 0
          kidney carcinoma in situ 0
          larynx carcinoma in situ 0
          liver carcinoma in situ 0
          lung carcinoma in situ + 0
          nasal cavity carcinoma in situ 0
          oral cavity carcinoma in situ + 1
          penis carcinoma in situ 0
          pharynx carcinoma in situ 0
          prostate carcinoma in situ 51
          rectum carcinoma in situ 0
          skin carcinoma in situ 0
          stomach carcinoma in situ 0
          trachea carcinoma in situ 0
          uterus carcinoma in situ + 46
Path 2
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      cancer 5233
        cell type cancer 3590
          carcinoma 3058
            in situ carcinoma 140
              Rokitansky-Aschoff Sinuses of the Gallbladder 0
              adenocarcinoma in situ 1
              anal carcinoma in situ 0
              bile duct carcinoma in situ 0
              bladder carcinoma in situ 0
              breast carcinoma in situ + 51
              bronchus carcinoma in situ 0
              endometrium carcinoma in situ 0
              esophagus carcinoma in situ 0
              eye carcinoma in situ 0
              gallbladder carcinoma in situ 0
              intestine carcinoma in situ + 0
              kidney carcinoma in situ 0
              larynx carcinoma in situ 0
              liver carcinoma in situ 0
              lung carcinoma in situ + 0
              nasal cavity carcinoma in situ 0
              oral cavity carcinoma in situ + 1
              penis carcinoma in situ 0
              pharynx carcinoma in situ 0
              prostate carcinoma in situ 51
              rectum carcinoma in situ 0
              skin carcinoma in situ 0
              stomach carcinoma in situ 0
              trachea carcinoma in situ 0
              uterus carcinoma in situ + 46
paths to the root