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
Accession: DOID:0060071
browse the term
Definition: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO)
Synonyms: exact_synonym: Precancerous Condition; Preneoplastic Condition; precancerous conditions; preneoplastic conditions
narrow_synonym: Clonal Hematopoiesis; Gallbladder Biliary Intraepithelial Neoplasia; Pancreatic Precancerous Condition; Small Intestinal Intraepithelial Neoplasia; cutaneous precancerous condition
primary_id: MESH:D011230
xref: EFO:0006892 ; EFO:1000265 ; EFO:1000443 ; EFO:1000536
GViewer not supported for the selected species.
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491
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Ace
angiotensin I converting enzyme
treatment
ISO
associated with Colonic Neoplasms
RGD
PMID:24959250
RGD:11039027
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Actc1
actin alpha cardiac muscle 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624804:2,006,439...2,011,809
Ensembl chrNW_004624804:2,005,997...2,011,023
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624747:20,407,190...20,438,605
Ensembl chrNW_004624747:20,403,717...20,438,690
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Aldh4a1
aldehyde dehydrogenase 4 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624764:4,051,999...4,081,954
Ensembl chrNW_004624764:4,051,178...4,082,142
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Anxa4
annexin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624762:3,562,656...3,641,465
Ensembl chrNW_004624762:3,562,446...3,641,770
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Aopep
aminopeptidase O (putative)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624753:16,188,323...16,588,989
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Arg1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624753:5,737,720...5,749,313
Ensembl chrNW_004624753:5,737,237...5,752,966
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Atm
ATM serine/threonine kinase
ISO
protein:decreased expression:hepatocyte
RGD
PMID:11751435
RGD:1599367
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Atp5f1b
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624802:11,400,288...11,408,785
Ensembl chrNW_004624802:11,399,474...11,409,700
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Bax
BCL2 associated X, apoptosis regulator
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
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Bcat2
branched chain amino acid transaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624832:5,132,667...5,147,099
Ensembl chrNW_004624832:5,134,590...5,147,290
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Bid
BH3 interacting domain death agonist
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004624735:9,557,732...9,590,862
Ensembl chrNW_004624735:9,579,979...9,589,260
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Casp8
caspase 8
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
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Casp9
caspase 9
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004624764:1,769,270...1,789,399
Ensembl chrNW_004624764:1,773,455...1,789,423
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14580687
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
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Ccdc134
coiled-coil domain containing 134
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624752:6,872,192...6,885,435
Ensembl chrNW_004624752:6,871,911...6,885,396
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581
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Cdkn1a
cyclin dependent kinase inhibitor 1A
treatment
ISO
RGD
PMID:23857431
RGD:10043364
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
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Cdx2
caudal type homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29439001
NCBI chrNW_004624776:10,551,503...10,556,987
Ensembl chrNW_004624776:10,551,503...10,556,845
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Cebpa
CCAAT enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21785164
NCBI chrNW_004624794:9,809,007...9,813,418
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Cfl1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624767:20,574,884...20,578,413
Ensembl chrNW_004624767:20,574,966...20,579,796
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Cish
cytokine inducible SH2 containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004624730:4,434,817...4,440,269
Ensembl chrNW_004624730:4,435,847...4,440,143
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Cog4
component of oligomeric golgi complex 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624746:12,715,437...12,747,187
Ensembl chrNW_004624746:12,715,437...12,747,823
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Col23a1
collagen type XXIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624733:41,426,748...41,700,873
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Cps1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624765:5,527,029...5,652,343
Ensembl chrNW_004624765:5,528,112...5,651,415
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Ddx54
DEAD-box helicase 54
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624747:19,264,836...19,279,251
Ensembl chrNW_004624747:19,264,888...19,278,934
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Dpp10
dipeptidyl peptidase like 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624732:29,385,895...30,748,424
Ensembl chrNW_004624732:29,386,401...30,042,127
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Efnb2
ephrin B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624793:5,089,675...5,130,022
Ensembl chrNW_004624793:5,089,639...5,130,503
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004624780:5,543,117...5,561,285
Ensembl chrNW_004624780:5,543,117...5,561,261
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Ergic3
ERGIC and golgi 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27588471
NCBI chrNW_004624842:3,872,518...3,881,994
Ensembl chrNW_004624842:3,872,518...3,881,937
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Exosc2
exosome component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624760:5,036,185...5,044,504
Ensembl chrNW_004624760:5,035,663...5,044,549
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Fas
Fas cell surface death receptor
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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Foxm1
forkhead box M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:13679865
NCBI chrNW_004624860:206,367...222,035
Ensembl chrNW_004624860:207,242...219,959
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Fth1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21785164
NCBI chrNW_004624926:469,870...471,142
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Gjb1
gap junction protein beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2559087
NCBI chrNW_004624903:1,511,347...1,519,265
Ensembl chrNW_004624903:1,517,324...1,519,265
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Gli1
GLI family zinc finger 1
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004624802:10,483,279...10,494,539
Ensembl chrNW_004624802:10,483,219...10,498,609
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Gli3
GLI family zinc finger 3
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900
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Gsta4
glutathione S-transferase alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20180811
NCBI chrNW_004624850:201,119...217,302
Ensembl chrNW_004624850:201,592...216,680
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Gsto1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624831:3,342,539...3,351,766
Ensembl chrNW_004624831:3,342,584...3,352,467
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Hadh
hydroxyacyl-CoA dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624830:1,429,989...1,451,447
Ensembl chrNW_004624830:1,426,775...1,451,440
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Higd2a
HIG1 hypoxia inducible domain family member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624733:13,740,949...13,741,927
Ensembl chrNW_004624733:13,740,949...13,741,915
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2675901
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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Ift88
intraflagellar transport 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9362446
NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
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Igf2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16092956
NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
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Igfbp1
insulin like growth factor binding protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12619036
NCBI chrNW_004624740:6,893,334...6,897,591
Ensembl chrNW_004624740:6,893,867...6,897,377
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Insr
insulin receptor
ISO
associated with Carcinoma, Hepatocellular
RGD
PMID:21411721
RGD:10403043
NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
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Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9466558
NCBI chrNW_004624843:1,113,075...1,178,859
Ensembl chrNW_004624843:1,120,974...1,178,859
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Klf7
KLF transcription factor 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:38184286
NCBI chrNW_004624765:8,823,319...8,914,016
Ensembl chrNW_004624765:8,823,251...8,910,068
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Krt8
keratin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624904:970,136...978,211
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LOC101716773
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
treatment
ISO
RGD
PMID:22982628
RGD:151708740
NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425
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LOC101726493
cytochrome b-c1 complex subunit 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624828:7,123,371...7,127,341
Ensembl chrNW_004624828:7,123,392...7,127,337
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Map2k7
mitogen-activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21317887
NCBI chrNW_004624828:869,424...878,358
Ensembl chrNW_004624828:869,425...878,231
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21317887
NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266
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Mapk9
mitogen-activated protein kinase 9
ISO
CTD Direct Evidence: marker/mechanism associated with Liver Neoplasms, Experimental;protein:decreased expression:liver
CTD RGD
PMID:18081878 PMID:21317887
RGD:2304231
NCBI chrNW_004624733:42,998,948...43,048,392
Ensembl chrNW_004624733:42,999,339...43,048,285
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24991542
NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889
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Mmp7
matrix metallopeptidase 7
ISO
RGD
PMID:9850086
RGD:9685350
NCBI chrNW_004624878:345,038...364,986
Ensembl chrNW_004624878:345,038...361,652
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14580687
NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004624885:2,339,281...2,343,351
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
protein:decreased expression:colon
RGD
PMID:17847023
RGD:7349371
NCBI chrNW_004624766:21,493,125...21,522,535
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Nfkbia
NFKB inhibitor alpha
treatment
ISO
associated with Liver Neoplasms
RGD
PMID:20045035
RGD:10413878
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
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Nop16
NOP16 nucleolar protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624733:13,742,012...13,747,360
Ensembl chrNW_004624733:13,742,013...13,747,416
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Nr1i3
nuclear receptor subfamily 1 group I member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941 PMID:25656644
NCBI chrNW_004624794:141,316...158,059
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Pbld
phenazine biosynthesis like protein domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624754:2,525,486...2,697,705
Ensembl chrNW_004624754:2,640,884...2,663,990
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Pebp1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624747:15,340,020...15,346,960
Ensembl chrNW_004624747:15,339,844...15,346,970
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Phb1
prohibitin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004624795:5,556,728...5,565,969
Ensembl chrNW_004624795:5,556,450...5,565,988
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Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004624754:20,810,398...20,815,182
Ensembl chrNW_004624754:20,808,701...20,815,206
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Ppm1d
protein phosphatase, Mg2+/Mn2+ dependent 1D
ISO
RGD
PMID:12021784
RGD:1599171
NCBI chrNW_004624871:3,044,718...3,089,042
Ensembl chrNW_004624871:3,044,102...3,088,981
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Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004624906:1,405,253...1,414,980
Ensembl chrNW_004624906:1,405,253...1,414,926
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Prickle2
prickle planar cell polarity protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624888:1,537,080...1,825,955
Ensembl chrNW_004624888:1,537,138...1,821,215
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004624759:14,143,439...14,174,971
Ensembl chrNW_004624759:14,142,956...14,171,718
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Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624791:11,334,146...12,656,480
Ensembl chrNW_004624791:11,338,510...12,654,812
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004624735:13,918,508...13,920,888
Ensembl chrNW_004624735:13,918,508...13,920,881
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Psd2
pleckstrin and Sec7 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624743:32,572,976...32,616,922
Ensembl chrNW_004624743:32,573,044...32,616,864
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:19522023
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Sftpd
surfactant protein D
ISO
protein:decreased expression:lung
RGD
PMID:18779194
RGD:4143498
NCBI chrNW_004624841:6,917,067...6,938,594
Ensembl chrNW_004624841:6,916,849...6,936,077
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068
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Sirpa
signal regulatory protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624741:3,157,734...3,202,018
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Six3
SIX homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624738:26,379,172...26,391,669
Ensembl chrNW_004624738:26,380,088...26,394,252
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Slc52a3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004624741:2,093,190...2,106,918
Ensembl chrNW_004624741:2,097,723...2,107,127
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Smad3
SMAD family member 3
ISO
protein:increased phosphorylation:liver
RGD
PMID:24680176
RGD:12903951
NCBI chrNW_004624781:5,795,652...5,890,047
Ensembl chrNW_004624781:5,795,652...5,890,371
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Smad4
SMAD family member 4
treatment
ISO
RGD
PMID:24680176
RGD:12903951
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
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Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004624783:7,012,385...7,039,302
Ensembl chrNW_004624783:7,011,899...7,039,921
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Socs4
suppressor of cytokine signaling 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004624731:14,356,719...14,382,738
Ensembl chrNW_004624731:14,359,837...14,382,738
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332 PMID:21472284
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23596790 PMID:26297436
RGD:8694319
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
mRNA:decreased expression:stomach mucosa (rat)
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004624831:1,882,114...2,012,341
Ensembl chrNW_004624831:1,882,077...2,012,341
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Sulf1
sulfatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127996
NCBI chrNW_004624744:21,484,934...21,685,476
Ensembl chrNW_004624744:21,484,834...21,685,577
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Clonal hematopoiesis
ClinVar
PMID:25741868 PMID:33057201 PMID:35714308
NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084
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Tlr2
toll like receptor 2
ISO
mRNA:increased expression:colon
RGD
PMID:22242189
RGD:151347836
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tmem132d
transmembrane protein 132D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624747:26,402,346...26,886,135
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Tnk2
tyrosine kinase non receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624730:61,237,653...61,272,499
Ensembl chrNW_004624730:61,236,983...61,273,166
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Tp53
tumor protein p53
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21317887 PMID:28573231
RGD:14995494
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004624908:1,135,240...1,155,175
Ensembl chrNW_004624908:1,132,215...1,152,319
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Trio
trio Rho guanine nucleotide exchange factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624751:11,252,934...11,566,190
Ensembl chrNW_004624751:11,362,844...11,565,269
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Trit1
tRNA isopentenyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004624764:22,323,732...22,370,298
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953
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Ttll9
tubulin tyrosine ligase like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624741:584,131...651,879
Ensembl chrNW_004624741:584,435...648,262
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12399228
NCBI chrNW_004624754:15,929,414...15,943,637
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Wscd1
WSC domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624786:7,884,450...7,933,275
Ensembl chrNW_004624786:7,879,985...7,931,906
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Yif1a
Yip1 interacting factor homolog A, membrane trafficking protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624767:20,079,394...20,084,170
Ensembl chrNW_004624767:20,079,233...20,084,170
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Zbtb20
zinc finger and BTB domain containing 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004624731:33,307,686...34,202,576
Ensembl chrNW_004624731:34,108,927...34,172,231
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Zbtb8os
zinc finger and BTB domain containing 8 opposite strand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004624764:15,785,203...15,799,952
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14507667
NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10965019 PMID:12351151 PMID:14507667
NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
ISO
mRNA, protein:increased expression:colon, epithelial cell
RGD
PMID:1576709 PMID:8449605
RGD:13210754 RGD:13432056
NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732
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Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22323126
NCBI chrNW_004624732:3,361,897...3,370,020
Ensembl chrNW_004624732:3,362,234...3,370,536
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Gsk3b
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:23554136
RGD:13210771
NCBI chrNW_004624731:28,178,647...28,368,784
Ensembl chrNW_004624731:28,178,628...28,366,420
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Mapk1
mitogen-activated protein kinase 1
ISO
RGD
PMID:23467982
RGD:13210776
NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757
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Mapk3
mitogen-activated protein kinase 3
ISO
RGD
PMID:23467982
RGD:13210776
NCBI chrNW_004624782:13,150,824...13,158,327
Ensembl chrNW_004624782:13,152,039...13,159,113
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
ISO
RGD
PMID:8449605
RGD:13432056
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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Ptch1
patched 1
ISO
DNA:hypermethylation:colon
RGD
PMID:22945423
RGD:150520176
NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389
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Tgfb2
transforming growth factor beta 2
treatment
ISO
RGD
PMID:17293967
RGD:13432080
NCBI chrNW_004624835:2,363,059...2,436,536
Ensembl chrNW_004624835:2,363,139...2,437,643
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LOC101699044
cytochrome P450 26A1
ISO
RGD
PMID:22179182
RGD:13782258
NCBI chrNW_004624737:4,324,964...4,329,488
Ensembl chrNW_004624737:4,325,755...4,329,758
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Oca2
OCA2 melanosomal transmembrane protein
susceptibility
ISO
DNA:missense mutation:cds:p.A481T (rs74653330) (human)
RGD
PMID:24617981
RGD:9491831
NCBI chrNW_004624896:2,163,043...2,432,016
Ensembl chrNW_004624896:2,163,468...2,415,432
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Tgfb1
transforming growth factor beta 1
ISO
RGD
PMID:9274625
RGD:7394827
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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Fancf
FA complementation group F
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:14647419
RGD:11049137
NCBI chrNW_004624766:13,583,664...13,585,684
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Igf2r
insulin like growth factor 2 receptor
ISO
DNA:loss of heterozygosity
RGD
PMID:8649861
RGD:2311631
NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151
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Adam9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chrNW_004624780:4,482,696...4,612,475
Ensembl chrNW_004624780:4,480,647...4,612,477
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Bcl2
BCL2 apoptosis regulator
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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Brca1
BRCA1 DNA repair associated
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
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Cadm1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chrNW_004624784:10,595,876...10,933,024
Ensembl chrNW_004624784:10,591,824...10,932,981
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Ccnd1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Ccne1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chrNW_004624794:4,957,156...4,967,058
Ensembl chrNW_004624794:4,957,178...4,967,140
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Ccng1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chrNW_004624733:26,366,448...26,378,062
Ensembl chrNW_004624733:26,367,200...26,376,664
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Cd274
CD274 molecule
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
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Cd46
CD46 molecule
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
NCBI chrNW_004624807:4,040,639...4,074,631
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Cdh1
cadherin 1
ISO
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581
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Cdk4
cyclin dependent kinase 4
disease_progression
ISO
associated with Papillomavirus Infections;protein:increased expression:cervix epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
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Cdkn1b
cyclin dependent kinase inhibitor 1B
disease_progression
ISO
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440
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Csf1r
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986
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Ctnna1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chrNW_004624743:31,512,481...31,700,340
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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 chrNW_004624730:62,001,547...62,223,098
Ensembl chrNW_004624730:62,002,280...62,223,319
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Faslg
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025
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Hdac2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592
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Hdac6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chrNW_004624893:608,744...627,600
Ensembl chrNW_004624893:608,540...628,580
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Igfbp3
insulin like growth factor binding protein 3
ISO
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD
PMID:14675666 PMID:17709267
RGD:2290004 RGD:2290021
NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512
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Il1b
interleukin 1 beta
susceptibility
ISO
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human)
RGD
PMID:25893807
RGD:36174015
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Mgp
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048
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Mlh1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535
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Mmp2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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Msh2
mutS homolog 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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Pdcd1
programmed cell death 1
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:T cell
RGD
PMID:23521696
RGD:40822817
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
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Phb1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chrNW_004624795:5,556,728...5,565,969
Ensembl chrNW_004624795:5,556,450...5,565,988
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Pou4f1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chrNW_004624751:21,812,567...21,817,837
Ensembl chrNW_004624751:21,812,850...21,814,747
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chrNW_004624791:13,975,235...14,056,900
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:uterine cervix, epithelial cell
RGD
PMID:18565574
RGD:2299119
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Rb1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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Rela
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
protein:altered localization, increased expression:nucleus, uterine cervix
RGD
PMID:16850495
RGD:2298759
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
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Skp2
S-phase kinase associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chrNW_004624759:18,796,055...18,858,692
Ensembl chrNW_004624759:18,830,323...18,858,712
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased expression:nucleus protein:increased serine phosphorylation:cervix epithelium
RGD
PMID:16005944 PMID:17110342
RGD:2291916 RGD:2298536
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Tert
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
NCBI chrNW_004624751:624,569...647,198
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Thrb
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chrNW_004624788:1,950,888...2,348,895
Ensembl chrNW_004624788:1,950,890...2,349,343
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Tp63
tumor protein p63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
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Tp73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chrNW_004624754:15,929,414...15,943,637
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
OMIM ClinVar
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10447254 PMID:10767341 PMID:11809892 PMID:16199547 PMID:17576681 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:24033266 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 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:32868804 PMID:33904453 PMID:34005834 PMID:34052969 PMID:34853308 PMID:38177409 More...
NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115
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Anxa1
annexin A1
ISO
protein:decreased expression:mammary gland
RGD
PMID:22323911
RGD:7421537
NCBI chrNW_004624811:765,338...782,203
Ensembl chrNW_004624811:764,940...782,198
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Ar
androgen receptor
ISO
RGD
PMID:17543076
RGD:1643341
NCBI chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459
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Areg
amphiregulin
ISO
protein:increased expression:breast
RGD
PMID:8543395
RGD:2292664
NCBI chrNW_004624730:1,290,692...1,299,365
Ensembl chrNW_004624730:1,290,655...1,299,410
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Bcl2
BCL2 apoptosis regulator
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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Birc5
baculoviral IAP repeat containing 5
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:16421596
RGD:2293106
NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940
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Bnip3
BCL2 interacting protein 3
ISO
RGD
PMID:14648660
RGD:7483575
NCBI chrNW_004624737:14,848,355...14,863,731
Ensembl chrNW_004624737:14,848,350...14,862,965
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Brca1
BRCA1 DNA repair associated
treatment
ISO
RGD
PMID:25861310
RGD:127284854
NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
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Brca2
BRCA2 DNA repair associated
treatment onset
ISO
DNA:missense mutation: :5972C>T
RGD
PMID:16280055 PMID:25861310
RGD:127284854 RGD:2289048
NCBI chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993
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Ca9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chrNW_004624868:5,110,602...5,131,167
Ensembl chrNW_004624868:5,109,846...5,116,949
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Casp6
caspase 6
ISO
protein:increased expression:breast
RGD
PMID:10574243
RGD:2301339
NCBI chrNW_004624830:170,392...179,883
Ensembl chrNW_004624830:171,427...184,814
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Ccnd1
cyclin D1
ISO
protein:decreased expression:breast
RGD
PMID:14612904
RGD:2289132
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Ccnd2
cyclin D2
ISO
DNA:hypermethylation:promoter, breast
RGD
PMID:14601057
RGD:2289156
NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
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Cdkn1a
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:12628841
RGD:2289659
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:15788662 PMID:17119686
RGD:2289931 RGD:2289981
NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:9470844
RGD:2289952
NCBI chrNW_004624802:11,906,279...11,925,530
Ensembl chrNW_004624802:11,905,271...11,925,707
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:15788662
RGD:2289981
NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585
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Flt1
fms related receptor tyrosine kinase 1
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15841074
RGD:2289965
NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chrNW_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:altered localization:nucleus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16080559 PMID:20526721
RGD:2306227
NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705
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Hoxb13
homeobox B13
ISO
DNA:hypermethylation
RGD
PMID:19250546
RGD:2314726
NCBI chrNW_004624795:5,198,805...5,201,079
Ensembl chrNW_004624795:5,198,751...5,200,961
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Klk10
kallikrein related peptidase 10
disease_progression
ISO
mRNA:decreased expression:breast
RGD
PMID:12788170
RGD:2314849
NCBI chrNW_004624832:3,750,585...3,754,362
Ensembl chrNW_004624832:3,751,167...3,756,097
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Ldhb
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23437403
NCBI chrNW_004624752:17,046,640...17,065,910
Ensembl chrNW_004624752:17,049,296...17,069,553
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:breast
RGD
PMID:17642161
RGD:2290392
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Notch4
notch receptor 4
ISO
RGD
PMID:17440163
RGD:2299156
NCBI chrNW_004624754:24,108,661...24,128,053
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Pak2
p21 (RAC1) activated kinase 2
ISO
RGD
PMID:22886747
RGD:7775026
NCBI chrNW_004624730:61,809,876...61,879,755
Ensembl chrNW_004624730:61,817,300...61,879,755
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Pgr
progesterone receptor
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chrNW_004624878:1,714,196...1,769,302
Ensembl chrNW_004624878:1,714,559...1,762,421
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Prkca
protein kinase C alpha
ISO
protein:decreased expression:breast
RGD
PMID:15454252
RGD:2292458
NCBI chrNW_004624870:1,589,775...2,023,160
Ensembl chrNW_004624870:1,596,102...2,023,172
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:breast
RGD
PMID:16353170
RGD:2300083
NCBI chrNW_004624760:5,643,549...5,653,747
Ensembl chrNW_004624760:5,643,501...5,654,475
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:18199541 PMID:18237383
RGD:2300199 RGD:2300203
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Ptk2
protein tyrosine kinase 2
ISO
protein:increased expression:breast
RGD
PMID:15564794
RGD:2292561
NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071
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Rb1
RB transcriptional corepressor 1
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:15312366
RGD:2299890
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
DNA:amplification
RGD
PMID:17375183
RGD:2298754
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
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Slc2a1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chrNW_004624824:8,444,877...8,446,628
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Socs2
suppressor of cytokine signaling 2
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chrNW_004624750:13,333,393...13,339,018
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chrNW_004624801:7,841,230...7,843,912
Ensembl chrNW_004624801:7,840,889...7,843,860
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
severity
ISO
protein:increased activity:breast
RGD
PMID:17060931
RGD:2315078
NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:breast
RGD
PMID:17163404
RGD:2315089
NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547
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Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression:breast
RGD
PMID:15010825
RGD:2291992
NCBI chrNW_004624751:624,569...647,198
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma in situ
ClinVar
PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:9242456 PMID:9546439 PMID:9569050 PMID:9704930 PMID:10411893 PMID:10797439 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15722483 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17606709 PMID:18511570 PMID:19367569 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24641375 PMID:24651012 PMID:24810334 PMID:25157968 PMID:25612911 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28492532 PMID:28573494 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31775759 PMID:32000721 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 More...
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Tymp
thymidine phosphorylase
ISO
RGD
PMID:9306962
RGD:2293726
NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:breast
RGD
PMID:19623180
RGD:2315458
NCBI chrNW_004624754:15,929,414...15,943,637
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:27081525 PMID:28492532 More...
NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24629489 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
NCBI chrNW_004624791:13,975,235...14,056,900
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Ace
angiotensin I converting enzyme
ISO
associated with Pancreatic Neoplasms
RGD
PMID:19880966
RGD:2325208
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Akt1
AKT serine/threonine kinase 1
ISO
ductal carcinoma in situ;protein:increased phosphorylation:breast
RGD
PMID:16341149
RGD:1643333
NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16024599
RGD:2317522
NCBI chrNW_004624966:168,244...220,430
Ensembl chrNW_004624966:168,250...220,522
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Alpl
alkaline phosphatase, biomineralization associated
ISO
associated with Testicular Neoplasms;protein:increased expression:testis
RGD
PMID:10547581
RGD:2315616
NCBI chrNW_004624764:6,393,741...6,447,739
Ensembl chrNW_004624764:6,393,765...6,447,829
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Angpt1
angiopoietin 1
ISO
associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland
RGD
PMID:15459484
RGD:1626167
NCBI chrNW_004624763:22,645,807...22,818,592
Ensembl chrNW_004624763:22,646,231...22,718,294
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Ctnnb1
catenin beta 1
ISO
protein:decreased expression:breast
RGD
PMID:9496256
RGD:2289836
NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
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Esr1
estrogen receptor 1
ISO
protein:increased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326
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Esr2
estrogen receptor 2
ISO
protein:decreased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295
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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 chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151
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Igfbp6
insulin like growth factor binding protein 6
ISO
testicular CIS; mRNA:increased expression:tumor
RGD
PMID:15123780
RGD:2301712
NCBI chrNW_004624904:1,153,890...1,159,095
Ensembl chrNW_004624904:1,154,882...1,159,209
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Mki67
marker of proliferation Ki-67
ISO
associated with Pancreatic Neoplasms;protein:increased expression:pancreas
RGD
PMID:20350215
RGD:2317703
NCBI chrNW_004624737:18,935,686...18,963,907
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Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
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Pdpn
podoplanin
ISO
mRNA:increased expression:testis
RGD
PMID:16736189
RGD:2292235
NCBI chrNW_004624764:163,370...192,770
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Pou5f1
POU class 5 homeobox 1
ISO
associated with Testicular Neoplasms;protein:increased expression:semen
RGD
PMID:17996359
RGD:2292428
NCBI chrNW_004624754:24,758,055...24,764,723
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Pten
phosphatase and tensin homolog
ISO
associated with Endometrial Neoplasms;protein:decreased expression:endometrium
RGD
PMID:17349568
RGD:2289828
NCBI chrNW_004624791:13,975,235...14,056,900
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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 chrNW_004624760:5,643,549...5,653,747
Ensembl chrNW_004624760:5,643,501...5,654,475
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:pancreas CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777
RGD:2317186 RGD:2317187
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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Runx3
RUNX family transcription factor 3
ISO
associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter
RGD
PMID:19763613
RGD:2324958
NCBI chrNW_004624764:9,192,067...9,218,617
Ensembl chrNW_004624764:9,191,556...9,248,252
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Sfn
stratifin
ISO
mRNA:decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chrNW_004624764:10,859,556...10,860,876
Ensembl chrNW_004624764:10,859,667...10,860,413
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Sfrp1
secreted frizzled related protein 1
ISO
testicular CIS; mRNA:increased expression:tumor
RGD
PMID:15123780
RGD:2301712
NCBI chrNW_004624780:2,133,105...2,172,301
Ensembl chrNW_004624780:2,132,960...2,174,508
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Xrcc1
X-ray repair cross complementing 1
ISO
associated with Lung Neoplasms
RGD
PMID:21530494
RGD:10045659
NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
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Cttn
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27148699
NCBI chrNW_004624767:16,842,341...16,884,449
Ensembl chrNW_004624767:16,847,459...16,880,183
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
DNA:amplification
RGD
PMID:16932067
RGD:2289933
NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602
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Nuf2
NUF2 component of NDC80 kinetochore complex
disease_progression
ISO
RGD
PMID:27499128
RGD:28867233
NCBI chrNW_004624826:1,794,084...1,831,009
Ensembl chrNW_004624826:1,798,737...1,831,112
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Atm
ATM serine/threonine kinase
severity
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:18288488 PMID:29928356
RGD:150340604 RGD:150340709
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Axin2
axin 2
disease_progression
ISO
RGD
PMID:28939076
RGD:151356661
NCBI chrNW_004624870:2,803,743...2,832,489
Ensembl chrNW_004624870:2,800,873...2,832,626
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Bcl2
BCL2 apoptosis regulator
ISO
protein:increased expression:tongue:
RGD
PMID:12167434
RGD:8547871
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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Cdkn1a
cyclin dependent kinase inhibitor 1A
susceptibility
ISO
DNA:polymorphism:exon:149A>G(human)
RGD
PMID:10873097
RGD:8662371
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:polymorphism:cds:p.K751Q(human)
RGD
PMID:17290401
RGD:8552678
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
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LOC101701891
histone H2AX
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356
RGD:150340604
NCBI chrNW_004624784:14,475,813...14,477,269
Ensembl chrNW_004624784:14,476,730...14,477,161
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18202791
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Snai1
snail family transcriptional repressor 1
disease_progression
ISO
RGD
PMID:28939076
RGD:151356661
NCBI chrNW_004624790:5,509,541...5,515,240
Ensembl chrNW_004624790:5,509,311...5,515,266
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Tp53
tumor protein p53
ISO
protein:increased expression:tongue: protein:increased expression:oral mucosa:
RGD
PMID:12167434 PMID:23776093
RGD:8547855 RGD:8547871
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphism,haplotye:cds:p.R399Q(human)
RGD
PMID:17290401
RGD:8552678
NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
OMIM ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11585917 PMID:11709541 PMID:11734544 PMID:12116233 PMID:12820975 PMID:15982307 PMID:16135823 PMID:16199547 PMID:17576681 PMID:18470933 PMID:19085937 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23382212 PMID:23800062 PMID:24033266 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26577220 PMID:26884178 PMID:26957611 PMID:27085493 PMID:27396511 PMID:27504877 PMID:27607234 PMID:28492532 PMID:29141312 PMID:29607586 PMID:29625052 PMID:29754767 PMID:30136158 PMID:31282071 PMID:31803976 PMID:31980526 PMID:33199492 PMID:34308104 PMID:34930662 PMID:35477182 PMID:35599849 PMID:35699229 PMID:36033485 PMID:36259739 More...
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
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Mplkip
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar
NCBI chrNW_004624740:21,071,798...21,074,083
Ensembl chrNW_004624740:21,071,703...21,077,567
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Amacr
alpha-methylacyl-CoA racemase
disease_progression
ISO
RGD
PMID:18343427
RGD:2315630
NCBI chrNW_004624759:20,495,697...20,506,343
Ensembl chrNW_004624759:20,495,980...20,510,582
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Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
protein:increased expression, altered localization:prostate, cytoplasm
RGD
PMID:11309329
RGD:2315666
NCBI chrNW_004624825:4,711,921...4,714,926
Ensembl chrNW_004624825:4,708,093...4,714,921
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459
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Areg
amphiregulin
ISO
protein:increased expression:prostate gland
RGD
PMID:14716741
RGD:2292659
NCBI chrNW_004624730:1,290,692...1,299,365
Ensembl chrNW_004624730:1,290,655...1,299,410
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Atm
ATM serine/threonine kinase
ISO
protein:increased serine phosphorylation:prostate gland
RGD
PMID:16997395
RGD:2293869
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Aurka
aurora kinase A
ISO
protein:increased expression:prostate gland
RGD
PMID:15754349 PMID:16707419
RGD:2293877 RGD:2293883
NCBI chrNW_004624790:143,818...162,065
Ensembl chrNW_004624790:147,149...161,344
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Aurkb
aurora kinase B
ISO
RGD
PMID:16707419
RGD:2293877
NCBI chrNW_004624786:10,769,797...10,775,142
Ensembl chrNW_004624786:10,765,610...10,775,112
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Btg2
BTG anti-proliferation factor 2
ISO
protein:decreased expression:prostate gland
RGD
PMID:11470758
RGD:2289070
NCBI chrNW_004624807:7,541,335...7,545,412
Ensembl chrNW_004624807:7,540,602...7,545,521
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Carm1
coactivator associated arginine methyltransferase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15221992
RGD:2293206
NCBI chrNW_004624828:2,833,011...2,872,281
Ensembl chrNW_004624828:2,832,769...2,871,167
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Ccnd1
cyclin D1
ISO
mRNA, protein:decreased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Ccne1
cyclin E1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chrNW_004624794:4,957,156...4,967,058
Ensembl chrNW_004624794:4,957,178...4,967,140
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581
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Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:18691549 PMID:20932324
RGD:2299085
NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114
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Creb3l4
cAMP responsive element binding protein 3 like 4
severity
ISO
RGD
PMID:17270658
RGD:13504714
NCBI chrNW_004624885:3,249,747...3,255,210
Ensembl chrNW_004624885:3,250,116...3,254,634
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:prostate gland
RGD
PMID:12381783
RGD:2293712
NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chrNW_004624828:2,316,042...2,358,866
Ensembl chrNW_004624828:2,315,251...2,358,711
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326
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Esr2
estrogen receptor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295
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Fgf6
fibroblast growth factor 6
ISO
protein:increased expression:prostate gland
RGD
PMID:2289066
RGD:2301089
NCBI chrNW_004624860:1,539,964...1,551,363
Ensembl chrNW_004624860:1,539,989...1,551,372
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Fgf8
fibroblast growth factor 8
ISO
RGD
PMID:12208767
RGD:2301097
NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
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Fgfr1
fibroblast growth factor receptor 1
ISO
RGD
PMID:18068632
RGD:2298702
NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870
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Fgfr2
fibroblast growth factor receptor 2
ISO
RGD
PMID:14695195
RGD:2301192
NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529
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Flt1
fms related receptor tyrosine kinase 1
ISO
protein:decreased expression:prostate gland
RGD
PMID:10893635
RGD:2301255
NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104
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Fzd4
frizzled class receptor 4
ISO
protein:increased expression:prostate gland
RGD
PMID:18068632
RGD:2298702
NCBI chrNW_004624845:2,972,308...3,055,596
Ensembl chrNW_004624845:3,046,063...3,050,560
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15042618
RGD:2306219
NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025
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Igf1
insulin like growth factor 1
ISO
protein:increased expression:prostate gland
RGD
PMID:19171036
RGD:2306713
NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19117991
RGD:2314913
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Lef1
lymphoid enhancer binding factor 1
ISO
RGD
PMID:27067790
RGD:11531513
NCBI chrNW_004624830:1,320,034...1,422,774
Ensembl chrNW_004624830:1,321,387...1,424,389
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LOC101702005
aromatase
ISO
RGD
PMID:19700748
RGD:7257711
NCBI chrNW_004624731:9,053,644...9,100,212
Ensembl chrNW_004624731:9,053,803...9,100,212
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Lrp1
LDL receptor related protein 1
ISO
protein:increased expression:prostate gland
RGD
PMID:14623925
RGD:1625030
NCBI chrNW_004624802:10,734,907...10,812,888
Ensembl chrNW_004624802:10,734,263...10,812,763
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Map2k4
mitogen-activated protein kinase kinase 4
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chrNW_004624786:14,457,382...14,597,027
Ensembl chrNW_004624786:14,457,452...14,597,027
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Map2k6
mitogen-activated protein kinase kinase 6
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chrNW_004624870:4,224,108...4,420,217
Ensembl chrNW_004624870:4,287,835...4,416,559
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Map2k7
mitogen-activated protein kinase kinase 7
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chrNW_004624828:869,424...878,358
Ensembl chrNW_004624828:869,425...878,231
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:10861747
RGD:10059615
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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Phb1
prohibitin 1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:18384941
RGD:2292382
NCBI chrNW_004624795:5,556,728...5,565,969
Ensembl chrNW_004624795:5,556,450...5,565,988
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Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chrNW_004624754:20,810,398...20,815,182
Ensembl chrNW_004624754:20,808,701...20,815,206
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Prss8
serine protease 8
disease_progression
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:12518323
RGD:2292484
NCBI chrNW_004624782:14,169,204...14,177,137
Ensembl chrNW_004624782:14,169,866...14,173,676
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18268330 PMID:19081794 PMID:22581815
RGD:2292497
NCBI chrNW_004624791:13,975,235...14,056,900
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:altered localization
RGD
PMID:18468781
RGD:2300123
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:prostate gland
RGD
PMID:15570007 PMID:16278667
RGD:2298767 RGD:2298769
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
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Rxra
retinoid X receptor alpha
ISO
protein:decreased expression:prostate
RGD
PMID:15318950
RGD:1643115
NCBI chrNW_004624760:2,379,809...2,455,749
Ensembl chrNW_004624760:2,380,708...2,456,928
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Slc30a4
solute carrier family 30 member 4
ISO
protein:decreased expression:prostate gland
RGD
PMID:12955079
RGD:2299948
NCBI chrNW_004624731:13,844,005...13,875,515
Ensembl chrNW_004624731:13,844,323...13,875,623
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Smad4
SMAD family member 4
ISO
protein:increased expression:prostate gland
RGD
PMID:15017584
RGD:2300005
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:prostate gland
RGD
PMID:18813126
RGD:2315088
NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547
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Stk11
serine/threonine kinase 11
ISO
RGD
PMID:18381428
RGD:2291943
NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
RGD
PMID:16940965
RGD:2290433
NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299
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Top2b
DNA topoisomerase II beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chrNW_004624788:3,493,188...3,590,138
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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 chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
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Foxp3
forkhead box P3
severity
ISO
DNA:SNP::rs3761548(human)
RGD
PMID:31177386
RGD:38501104
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human)
RGD
PMID:16803516
RGD:36049759
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Ddb2
damage specific DNA binding protein 2
susceptibility
ISO
DNA:transitions: :p.K244E, p.R273H ClinVar Annotator: match by term: Xeroderma pigmentosum
RGD ClinVar
PMID:8798680 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532
RGD:1601050
NCBI chrNW_004624767:1,481,151...1,495,073
Ensembl chrNW_004624767:1,481,447...1,492,467
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:3341805 PMID:7585650 PMID:7825573 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9758621 PMID:10447254 PMID:11156600 PMID:11285194 PMID:11319176 PMID:11335038 PMID:11443545 PMID:11709541 PMID:11710928 PMID:11734544 PMID:12820975 PMID:15982307 PMID:16111488 PMID:16135823 PMID:16199547 PMID:16707649 PMID:16904611 PMID:17020410 PMID:17403617 PMID:17576681 PMID:18191955 PMID:18470933 PMID:18510925 PMID:18637129 PMID:19085937 PMID:19179371 PMID:19934020 PMID:20633800 PMID:22234153 PMID:22826098 PMID:22863773 PMID:23221806 PMID:23232694 PMID:23382212 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24448499 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26467025 PMID:26556299 PMID:26577220 PMID:26689913 PMID:26884178 PMID:26957611 PMID:27004399 PMID:27085493 PMID:27396511 PMID:27504877 PMID:27607234 PMID:28492532 PMID:29178624 PMID:29478780 PMID:29607586 PMID:29625052 PMID:29754767 PMID:30136158 PMID:30919937 PMID:31110295 PMID:31282071 PMID:31803976 PMID:31937902 PMID:31980526 PMID:32830346 PMID:32974964 PMID:33095795 PMID:33199492 PMID:34308104 PMID:35477182 PMID:35615778 PMID:35699229 PMID:36033485 PMID:37501076 PMID:38216115 More...
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 PMID:17576681 PMID:24728327 PMID:25741868 PMID:25910212 PMID:26023681 PMID:26556299 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:28259476 PMID:28423363 PMID:28492532 PMID:28873162 PMID:29478780 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30414346 PMID:30787465 PMID:31541171 PMID:31664448 PMID:31681265 PMID:31874108 PMID:32183364 PMID:32295625 PMID:32427313 PMID:32496904 PMID:33332384 PMID:33780288 PMID:34308104 PMID:36744932 More...
NCBI chrNW_004624732:13,730,648...13,776,886
Ensembl chrNW_004624732:13,729,947...13,776,870
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 PMID:15886521 PMID:16199547 PMID:16550608 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:27607234 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:31692161 PMID:32008151 PMID:32659497 PMID:32756499 PMID:34117267 PMID:35477182 More...
NCBI chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701
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Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 PMID:15082767 PMID:23370536 PMID:24033266 PMID:24700531 PMID:25714468 PMID:25741868 PMID:26884178 PMID:27982466 PMID:28492532 PMID:28654958 PMID:29130490 PMID:29749609 PMID:30838033 PMID:30919937 PMID:31130284 PMID:32522879 PMID:33219753 More...
NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346
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Klc3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
NCBI chrNW_004624907:2,242,149...2,250,533
Ensembl chrNW_004624907:2,245,731...2,250,378
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Polh
DNA polymerase eta
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:24130121 PMID:25256075 PMID:25741868 PMID:27664908 PMID:28492532 PMID:30414346 PMID:31980526 PMID:33558524 More...
NCBI chrNW_004624754:16,061,874...16,083,247
Ensembl chrNW_004624754:16,062,744...16,080,042
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Terf2
telomeric repeat binding factor 2
ISO
MouseDO
NCBI chrNW_004624746:16,992,049...17,020,809
Ensembl chrNW_004624746:16,992,110...17,019,857
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Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532
NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044
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Xpa
XPA, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 PMID:2234061 PMID:7577588 PMID:7876263 PMID:8105686 PMID:8541864 PMID:8765158 PMID:8825598 PMID:9536098 PMID:9671271 PMID:10408173 PMID:10447254 PMID:10862089 PMID:12509227 PMID:15214909 PMID:15661657 PMID:16491090 PMID:16792756 PMID:16905156 PMID:17576681 PMID:18567921 PMID:20054342 PMID:20199544 PMID:20534089 PMID:20574439 PMID:21148310 PMID:22081045 PMID:23194742 PMID:24063568 PMID:24135642 PMID:24704021 PMID:24728327 PMID:24757057 PMID:25256075 PMID:25326635 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26659639 PMID:26743599 PMID:26884178 PMID:27413738 PMID:27607234 PMID:27982466 PMID:28492532 PMID:29208038 PMID:30077970 PMID:31478152 PMID:34374989 PMID:35687855 PMID:36893274 More...
NCBI chrNW_004624825:3,138,386...3,162,774
Ensembl chrNW_004624825:3,137,823...3,162,294
G
Xpc
XPC complex subunit, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 PMID:16081512 PMID:16199547 PMID:16550608 PMID:17079196 PMID:17084680 PMID:18414213 PMID:18470933 PMID:18809580 PMID:18955168 PMID:19609301 PMID:20054342 PMID:21273643 PMID:21482201 PMID:23173980 PMID:23278166 PMID:23400628 PMID:24218596 PMID:24728327 PMID:25256075 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26884178 PMID:27153395 PMID:27387384 PMID:27607234 PMID:28492532 PMID:28615033 PMID:29178624 PMID:29330851 PMID:29569758 PMID:29684080 PMID:29973595 PMID:30101995 PMID:30256826 PMID:30306255 PMID:30516811 PMID:30675318 PMID:31017654 PMID:31970404 PMID:32239545 PMID:33821390 PMID:35111200 PMID:36947458 More...
NCBI chrNW_004624872:1,438,673...1,467,206
Ensembl chrNW_004624872:1,438,769...1,466,642
G
Xpa
XPA, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A
OMIM ClinVar
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 PMID:2234061 PMID:7577588 PMID:7876263 PMID:8105686 PMID:8541864 PMID:8765158 PMID:8825598 PMID:9536098 PMID:9671271 PMID:9753735 PMID:10408173 PMID:10447254 PMID:10862089 PMID:12509227 PMID:15214909 PMID:15661657 PMID:16098033 PMID:16199547 PMID:16491090 PMID:16792756 PMID:16905156 PMID:17576681 PMID:18414213 PMID:18567921 PMID:20054342 PMID:20199544 PMID:20534089 PMID:20574439 PMID:21148310 PMID:22081045 PMID:22190868 PMID:23194742 PMID:24063568 PMID:24135642 PMID:24704021 PMID:24728327 PMID:24757057 PMID:25256075 PMID:25326635 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26659639 PMID:26743599 PMID:26884178 PMID:27413738 PMID:27607234 PMID:27982466 PMID:28492532 PMID:29208038 PMID:30077970 PMID:31478152 PMID:34234304 PMID:34374989 PMID:35178751 PMID:35197637 PMID:35687855 PMID:36893274 More...
NCBI chrNW_004624825:3,138,386...3,162,774
Ensembl chrNW_004624825:3,137,823...3,162,294
G
Xpc
XPC complex subunit, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum group A
ClinVar
PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 PMID:25566891 PMID:25741868 PMID:26227012 PMID:28492532 More...
NCBI chrNW_004624872:1,438,673...1,467,206
Ensembl chrNW_004624872:1,438,769...1,466,642
G
Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum group B
OMIM ClinVar
PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 PMID:16199547 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 PMID:26467025 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:28259476 PMID:28423363 PMID:28492532 PMID:28873162 PMID:29376097 PMID:29478780 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30414346 PMID:30787465 PMID:31541171 PMID:31664448 PMID:31681265 PMID:31874108 PMID:32183364 PMID:32295625 PMID:32427313 PMID:32496904 PMID:33332384 PMID:33780288 PMID:34308104 PMID:36744932 More...
NCBI chrNW_004624732:13,730,648...13,776,886
Ensembl chrNW_004624732:13,729,947...13,776,870
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar
PMID:25741868
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
G
Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar
PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532
NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044
G
Xpc
XPC complex subunit, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: XPC-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
OMIM ClinVar
PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 PMID:12177305 PMID:12509233 PMID:14662655 PMID:16081512 PMID:16199547 PMID:16550608 PMID:16990803 PMID:17079196 PMID:17084680 PMID:17119055 PMID:17576681 PMID:18414213 PMID:18470933 PMID:18478970 PMID:18717677 PMID:18809580 PMID:18955165 PMID:18955168 PMID:19609301 PMID:19953607 PMID:20054342 PMID:21273643 PMID:21482201 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:28492532 PMID:28669926 PMID:29178624 PMID:29330851 PMID:29569758 PMID:29684080 PMID:29973595 PMID:30101995 PMID:30256826 PMID:30306255 PMID:30516811 PMID:30675318 PMID:31017654 PMID:31319225 PMID:31970404 PMID:32239545 PMID:33672602 PMID:33821390 PMID:34761457 PMID:35111200 PMID:36947458 More...
NCBI chrNW_004624872:1,438,673...1,467,206
Ensembl chrNW_004624872:1,438,769...1,466,642
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar
NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
OMIM ClinVar
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621 PMID:11156600 PMID:11285194 PMID:11319176 PMID:11335038 PMID:11443545 PMID:11709541 PMID:11710928 PMID:11734544 PMID:12458209 PMID:12820975 PMID:15494306 PMID:15534626 PMID:15982307 PMID:16054878 PMID:16111488 PMID:16135823 PMID:16199547 PMID:16707649 PMID:17403617 PMID:17576681 PMID:18191955 PMID:18510924 PMID:18510925 PMID:18637129 PMID:18709642 PMID:19085937 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22572993 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23276657 PMID:23382212 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26884178 PMID:26957611 PMID:26993158 PMID:27004399 PMID:27085493 PMID:27396511 PMID:27504877 PMID:27982466 PMID:28376765 PMID:28492532 PMID:29169765 PMID:29178624 PMID:29478780 PMID:29522548 PMID:29607586 PMID:29754767 PMID:30136158 PMID:31282071 PMID:31803976 PMID:31937902 PMID:31980526 PMID:32047639 PMID:32830346 PMID:33095795 PMID:33199492 PMID:33369099 PMID:34308104 PMID:35477182 PMID:35699229 PMID:36033485 More...
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
G
Klc3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar
PMID:25741868
NCBI chrNW_004624907:2,242,149...2,250,533
Ensembl chrNW_004624907:2,245,731...2,250,378
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar
PMID:25741868 PMID:28492532 PMID:33471991
NCBI chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792
G
Ddb2
damage specific DNA binding protein 2
ISO
ClinVar Annotator: match by term: DDB2-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group E
OMIM ClinVar
PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 PMID:16964240 PMID:21107348 PMID:24728327 PMID:25741868 PMID:26884178 PMID:28492532 More...
NCBI chrNW_004624767:1,481,151...1,495,073
Ensembl chrNW_004624767:1,481,447...1,492,467
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome
OMIM ClinVar
PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 PMID:15159313 PMID:15886521 PMID:16199547 PMID:16550608 PMID:17183314 PMID:17576681 PMID:18767034 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23407396 PMID:23623386 PMID:23623389 PMID:24004570 PMID:24027083 PMID:24033266 PMID:24412486 PMID:24465539 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26136524 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:27607234 PMID:28292785 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:28878254 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29625052 PMID:29892709 PMID:30165384 PMID:30658521 PMID:31692161 PMID:32008151 PMID:32034146 PMID:32191290 PMID:32487094 PMID:32659497 PMID:32756499 PMID:32868804 PMID:34117267 PMID:35171259 PMID:35477182 PMID:36139606 More...
NCBI chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701
G
Mrtfb
myocardin related transcription factor B
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar
PMID:28492532
NCBI chrNW_004624782:4,217,620...4,416,161
Ensembl chrNW_004624782:4,217,522...4,408,175
G
Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar
PMID:28492532
NCBI chrNW_004624782:3,920,042...4,092,179
Ensembl chrNW_004624782:3,919,965...4,093,743
G
Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group G
OMIM ClinVar
PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 PMID:11219864 PMID:11841555 PMID:12060391 PMID:15082767 PMID:15682379 PMID:16550608 PMID:17466625 PMID:22821389 PMID:23255472 PMID:23370536 PMID:24033266 PMID:24354460 PMID:24700531 PMID:24728327 PMID:25714468 PMID:25741868 PMID:25795128 PMID:26149386 PMID:26580448 PMID:26884178 PMID:27104957 PMID:27982466 PMID:28492532 PMID:28654958 PMID:29641532 PMID:29891518 PMID:30086788 PMID:30306255 PMID:30919937 PMID:31937788 PMID:32127467 PMID:32522879 PMID:32573973 PMID:33219753 PMID:34130653 PMID:36077770 More...
NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346
G
Polh
DNA polymerase eta
ISO
ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
OMIM ClinVar
PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:16199547 PMID:17344931 PMID:17576681 PMID:18368133 PMID:18703314 PMID:20577208 PMID:23651273 PMID:24033266 PMID:24130121 PMID:25256075 PMID:25741868 PMID:26884178 PMID:27004399 PMID:27664908 PMID:27982466 PMID:28202063 PMID:28492532 PMID:28688171 PMID:30414346 PMID:32239545 PMID:32999650 PMID:33558524 PMID:35111200 PMID:36308448 PMID:38212351 More...
NCBI chrNW_004624754:16,061,874...16,083,247
Ensembl chrNW_004624754:16,062,744...16,080,042
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
OMIM:610965
MouseDO
NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME
OMIM ClinVar
PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 PMID:17183314 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623386 PMID:23623389 PMID:24027083 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26136524 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:28292785 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:30658521 PMID:31692161 PMID:32008151 PMID:32659497 PMID:32756499 More...
NCBI chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701
G
Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: XFE progeroid syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624747:28,024,230...28,068,390
Ensembl chrNW_004624747:28,024,975...28,068,344
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