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_004936487:17,690,206...17,819,619
Ensembl chrNW_004936487:17,690,968...17,819,669
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Actc1
actin alpha cardiac muscle 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
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Aldh4a1
aldehyde dehydrogenase 4 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936474:5,217,601...5,246,718
Ensembl chrNW_004936474:5,218,686...5,246,664
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Anxa4
annexin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936491:13,982,926...14,047,690
Ensembl chrNW_004936491:13,982,677...14,047,690
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Aopep
aminopeptidase O (putative)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936626:3,704,474...3,973,913
Ensembl chrNW_004936626:3,667,123...3,970,433
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Atm
ATM serine/threonine kinase
ISO
protein:decreased expression:hepatocyte
RGD
PMID:11751435
RGD:1599367
NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211
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Atp5f1b
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936646:951,236...958,907
Ensembl chrNW_004936646:951,009...959,516
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Bax
BCL2 associated X, apoptosis regulator
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
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Bcat2
branched chain amino acid transaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936664:2,865,804...2,890,038
Ensembl chrNW_004936664:2,864,231...2,890,018
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Bid
BH3 interacting domain death agonist
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004936807:708,340...750,127
Ensembl chrNW_004936807:708,276...750,093
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Casp3
caspase 3
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004936554:4,571,072...4,593,765
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Casp8
caspase 8
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
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Casp9
caspase 9
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004936474:3,178,097...3,196,130
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14580687
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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Ccdc134
coiled-coil domain containing 134
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936492:180,135...195,599
Ensembl chrNW_004936492:178,390...195,806
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359
Ensembl chrNW_004936599:973,838...983,316
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203
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Cdkn1a
cyclin dependent kinase inhibitor 1A
treatment
ISO
RGD
PMID:23857431
RGD:10043364
NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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Cdx2
caudal type homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29439001
NCBI chrNW_004936472:23,137,936...23,141,205
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Cebpa
CCAAT enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21785164
NCBI chrNW_004936570:2,513,561...2,516,213
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Cfl1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307
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Cish
cytokine inducible SH2 containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004936529:2,116,786...2,124,469
Ensembl chrNW_004936529:2,118,325...2,124,684
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Cog4
component of oligomeric golgi complex 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936475:23,086,406...23,116,203
Ensembl chrNW_004936475:23,086,372...23,119,163
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Col23a1
collagen type XXIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936647:93,536...456,623
Ensembl chrNW_004936647:94,258...452,849
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Cps1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312
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Ddx54
DEAD-box helicase 54
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936668:3,062,868...3,074,769
Ensembl chrNW_004936668:3,061,796...3,075,426
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Dpp10
dipeptidyl peptidase like 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936469:53,950,034...54,548,724
Ensembl chrNW_004936469:53,948,570...54,548,747
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Efnb2
ephrin B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936472:5,138,751...5,181,630
Ensembl chrNW_004936472:5,138,745...5,181,668
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Egf
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26390243
NCBI chrNW_004936563:1,058,803...1,181,393
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004936710:1,446,030...1,461,945
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Ergic3
ERGIC and golgi 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27588471
NCBI chrNW_004936561:5,256,450...5,270,073
Ensembl chrNW_004936561:5,256,417...5,270,344
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Exosc2
exosome component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936487:17,675,401...17,686,224
Ensembl chrNW_004936487:17,675,303...17,687,943
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Fas
Fas cell surface death receptor
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chrNW_004936735:209,369...234,582
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Foxm1
forkhead box M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:13679865
NCBI chrNW_004936606:3,185,289...3,198,427
Ensembl chrNW_004936606:3,185,982...3,198,378
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Fth1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21785164
NCBI chrNW_004936581:1,118,905...1,120,592
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Gjb1
gap junction protein beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2559087
NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898
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Gli1
GLI family zinc finger 1
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779
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Gli3
GLI family zinc finger 3
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011
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Gsto1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936600:1,932,152...1,943,342
Ensembl chrNW_004936600:1,930,695...1,943,422
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Gstp1
glutathione S-transferase pi 1
treatment
ISO
associated with Metabolic Syndrome X CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental associated with stomach disease
RGD CTD
PMID:2563599 PMID:7585603 PMID:15526359 PMID:16332721 PMID:20188851 PMID:21092749 PMID:21785164 PMID:22272023 PMID:23981577 PMID:28182092 More...
RGD:10401933 RGD:10401942 RGD:10401944 RGD:14700971
NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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Hadh
hydroxyacyl-CoA dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936818:575,272...623,496
Ensembl chrNW_004936818:575,023...623,568
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Higd2a
HIG1 hypoxia inducible domain family member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936597:661,740...662,752
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2675901
NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
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Ift88
intraflagellar transport 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9362446
NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748
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Igf2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16092956
NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
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Igfbp1
insulin like growth factor binding protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12619036
NCBI chrNW_004936478:20,494,190...20,499,001
Ensembl chrNW_004936478:20,494,203...20,499,001
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004936549:7,015,595...7,016,246
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Insr
insulin receptor
ISO
associated with Carcinoma, Hepatocellular
RGD
PMID:21411721
RGD:10403043
NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668
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Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9466558
NCBI chrNW_004936525:9,064,442...9,125,972
Ensembl chrNW_004936525:9,064,466...9,122,635
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Klf7
KLF transcription factor 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:38184286
NCBI chrNW_004936631:3,327,555...3,412,206
Ensembl chrNW_004936631:3,329,681...3,412,252
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Krt8
keratin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936512:10,247,049...10,254,748
Ensembl chrNW_004936512:10,246,991...10,254,827
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LOC101955110
cytochrome b-c1 complex subunit 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936588:876,750...880,677
Ensembl chrNW_004936588:876,755...880,685
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LOC101957714
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
treatment
ISO
RGD
PMID:22982628
RGD:151708740
NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185
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LOC101958062
glutathione S-transferase A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20180811
NCBI chrNW_004936476:7,873,218...7,888,301
Ensembl chrNW_004936476:7,873,194...7,889,048
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LOC101960098
aminoacylase-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936529:3,308,863...3,333,877
Ensembl chrNW_004936529:3,327,879...3,333,879
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LOC101968921
angiotensin-converting enzyme
treatment
ISO
associated with Colonic Neoplasms
RGD
PMID:24959250
RGD:11039027
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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Map2k7
mitogen-activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21317887
NCBI chrNW_004936588:4,882,191...4,891,807
Ensembl chrNW_004936588:4,882,184...4,892,071
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21317887
NCBI chrNW_004936728:1,775,746...1,893,895
Ensembl chrNW_004936728:1,775,641...1,893,907
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Mapk9
mitogen-activated protein kinase 9
ISO
associated with Liver Neoplasms, Experimental;protein:decreased expression:liver CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18081878 PMID:21317887
RGD:2304231
NCBI chrNW_004936739:551,678...602,027
Ensembl chrNW_004936739:551,629...602,047
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Mdm2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14555611
NCBI chrNW_004936545:6,709,903...6,732,334
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24991542
NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543
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Mmp7
matrix metallopeptidase 7
ISO
RGD
PMID:9850086
RGD:9685350
NCBI chrNW_004936551:5,388,456...5,395,071
Ensembl chrNW_004936551:5,388,459...5,395,071
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14580687
NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004936580:4,691,870...4,694,092
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
protein:decreased expression:colon
RGD
PMID:17847023
RGD:7349371
NCBI chrNW_004936816:60,499...91,628
Ensembl chrNW_004936816:60,499...91,628
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Nfkbia
NFKB inhibitor alpha
treatment
ISO
associated with Liver Neoplasms
RGD
PMID:20045035
RGD:10413878
NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612
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Nop16
NOP16 nucleolar protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936597:655,191...661,675
Ensembl chrNW_004936597:655,199...661,683
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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_004936903:527,838...533,930
Ensembl chrNW_004936903:527,871...533,790
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Pbld
phenazine biosynthesis like protein domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936521:9,943,061...9,998,421
Ensembl chrNW_004936521:9,984,783...9,998,858
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Pebp1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936668:2,316,661...2,323,015
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Phb1
prohibitin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004936490:12,127,065...12,138,870
Ensembl chrNW_004936490:12,127,065...12,138,870
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Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004936476:22,295,023...22,300,155
Ensembl chrNW_004936476:22,295,021...22,300,161
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Ppm1d
protein phosphatase, Mg2+/Mn2+ dependent 1D
ISO
RGD
PMID:12021784
RGD:1599171
NCBI chrNW_004936490:2,139,201...2,183,850
Ensembl chrNW_004936490:2,139,078...2,184,602
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Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004936474:26,641,776...26,653,291
Ensembl chrNW_004936474:26,639,259...26,653,328
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Prickle2
prickle planar cell polarity protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936637:2,225,400...2,299,307
Ensembl chrNW_004936637:2,003,209...2,333,278
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004936518:1,817,051...1,843,376
Ensembl chrNW_004936518:1,804,969...1,843,380
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Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936787:330,390...1,491,994
Ensembl chrNW_004936787:332,342...1,491,285
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004936470:9,143,003...9,145,438
Ensembl chrNW_004936470:9,142,327...9,145,722
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Psd2
pleckstrin and Sec7 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936531:8,835,486...8,879,862
Ensembl chrNW_004936531:8,835,464...8,881,683
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:19522023
NCBI chrNW_004936481:3,821,564...3,828,086
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Sftpd
surfactant protein D
ISO
protein:decreased expression:lung
RGD
PMID:18779194
RGD:4143498
NCBI chrNW_004936716:60,754...73,010
Ensembl chrNW_004936716:60,656...73,099
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
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Sirpa
signal regulatory protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936485:16,608,317...16,654,552
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Six3
SIX homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936508:7,103,578...7,106,588
Ensembl chrNW_004936508:7,104,066...7,107,597
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Slc52a3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004936485:17,771,797...17,777,637
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Smad3
SMAD family member 3
ISO
protein:increased phosphorylation:liver
RGD
PMID:24680176
RGD:12903951
NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793
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Smad4
SMAD family member 4
treatment
ISO
RGD
PMID:24680176
RGD:12903951
NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
G
Socs4
suppressor of cytokine signaling 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004936697:110,637...129,767
Ensembl chrNW_004936697:110,952...129,686
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332 PMID:21472284
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
G
Stat3
signal transducer and activator of transcription 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23596790 PMID:26297436
RGD:8694319
NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
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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_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
G
Sulf1
sulfatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127996
NCBI chrNW_004936496:4,755,806...4,931,964
Ensembl chrNW_004936496:4,755,754...4,893,027
G
Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Clonal hematopoiesis
ClinVar
PMID:25741868 PMID:33057201 PMID:35714308
NCBI chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615
G
Tlr2
toll like receptor 2
ISO
mRNA:increased expression:colon
RGD
PMID:22242189
RGD:151347836
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
G
Tmem132d
transmembrane protein 132D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936660:631,033...1,125,358
G
Tnk2
tyrosine kinase non receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936784:636,105...685,080
Ensembl chrNW_004936784:636,139...685,210
G
Tp53
tumor protein p53
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21317887 PMID:28573231
RGD:14995494
NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
G
Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chrNW_004936596:4,406,301...4,423,775
Ensembl chrNW_004936596:4,406,283...4,418,932
G
Trio
trio Rho guanine nucleotide exchange factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936665:1,821,580...2,029,839
Ensembl chrNW_004936665:1,821,583...2,030,371
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Trit1
tRNA isopentenyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chrNW_004936474:21,689,411...21,739,770
Ensembl chrNW_004936474:21,689,363...21,739,857
G
Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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Ttll9
tubulin tyrosine ligase like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936485:18,835,494...18,880,673
Ensembl chrNW_004936485:18,835,494...18,880,633
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12399228
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Wscd1
WSC domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936677:1,788,867...1,831,584
Ensembl chrNW_004936677:1,767,095...1,821,175
G
Yif1a
Yip1 interacting factor homolog A, membrane trafficking protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936599:3,305,946...3,310,498
Ensembl chrNW_004936599:3,305,925...3,310,836
G
Zbtb20
zinc finger and BTB domain containing 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chrNW_004936536:1,776,065...2,546,286
Ensembl chrNW_004936536:1,776,081...1,829,837
G
Zbtb8os
zinc finger and BTB domain containing 8 opposite strand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chrNW_004936474:15,577,023...15,592,891
Ensembl chrNW_004936474:15,573,486...15,592,070
G
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14507667
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10965019 PMID:12351151 PMID:14507667
NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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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_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122
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Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22323126
NCBI chrNW_004936469:16,906,658...16,916,045
Ensembl chrNW_004936469:16,906,658...16,916,045
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Gsk3b
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:23554136
RGD:13210771
NCBI chrNW_004936536:6,730,070...6,893,818
Ensembl chrNW_004936536:6,730,062...6,894,303
G
Mapk1
mitogen-activated protein kinase 1
ISO
RGD
PMID:23467982
RGD:13210776
NCBI chrNW_004936619:1,889,841...1,932,646
Ensembl chrNW_004936619:1,889,708...1,932,646
G
Mapk3
mitogen-activated protein kinase 3
ISO
RGD
PMID:23467982
RGD:13210776
NCBI chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180
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Myc
MYC proto-oncogene, bHLH transcription factor
treatment
ISO
RGD
PMID:8449605
RGD:13432056
NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965
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Ptch1
patched 1
ISO
DNA:hypermethylation:colon
RGD
PMID:22945423
RGD:150520176
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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Tgfb2
transforming growth factor beta 2
treatment
ISO
RGD
PMID:17293967
RGD:13432080
NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
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Knstrn
kinetochore localized astrin (SPAG5) binding protein
severity
ISO
DNA:mutation:cds: p.Ala40Glu (human)
RGD
PMID:30972880
RGD:28867225
NCBI chrNW_004936471:3,838,507...3,849,521
Ensembl chrNW_004936471:3,838,612...3,848,751
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LOC101977861
cytochrome P450 26A1
ISO
RGD
PMID:22179182
RGD:13782258
NCBI chrNW_004936601:1,810,572...1,815,927
Ensembl chrNW_004936601:1,809,992...1,814,074
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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_004936471:38,612,450...38,952,150
Ensembl chrNW_004936471:38,612,427...38,952,199
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Tgfb1
transforming growth factor beta 1
ISO
RGD
PMID:9274625
RGD:7394827
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Fancf
FA complementation group F
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:14647419
RGD:11049137
NCBI chrNW_004936654:3,298,193...3,301,251
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Igf2r
insulin like growth factor 2 receptor
ISO
DNA:loss of heterozygosity
RGD
PMID:8649861
RGD:2311631
NCBI chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174
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Adam9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
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Bcl2
BCL2 apoptosis regulator
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
G
Brca1
BRCA1 DNA repair associated
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chrNW_004936490:17,735,444...17,801,456
G
Cadm1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chrNW_004936542:569,739...883,738
Ensembl chrNW_004936542:565,843...883,609
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Ccnd1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
Ensembl chrNW_004936599:973,838...983,316
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Ccne1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chrNW_004936570:5,536,817...5,547,880
Ensembl chrNW_004936570:5,536,672...5,548,008
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Ccng1
cyclin G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chrNW_004936515:614,287...621,213
Ensembl chrNW_004936515:614,290...619,963
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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_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602
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Cd46
CD46 molecule
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
NCBI chrNW_004936557:5,136,784...5,175,543
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Cdh1
cadherin 1
ISO
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203
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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_004936646:1,886,262...1,889,260
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
G
Cdkn1b
cyclin dependent kinase inhibitor 1B
disease_progression
ISO
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
protein:increased expression:uterine cervix
RGD
PMID:17632454
RGD:2289695
NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159
G
Csf1r
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923
G
Ctnna1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935
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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_004936833:551,989...843,064
Ensembl chrNW_004936833:551,799...844,121
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Faslg
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chrNW_004936481:14,789,547...14,795,780
G
Hdac1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
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Hdac2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
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Hdac6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053
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Igfbp3
insulin like growth factor binding protein 3
ISO
protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03)
RGD
PMID:14675666 PMID:17709267
RGD:2290004 RGD:2290021
NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
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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_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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Mgp
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chrNW_004936587:2,601,419...2,605,848
Ensembl chrNW_004936587:2,601,312...2,605,870
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Mlh1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736
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Mmp2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Msh2
mutS homolog 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chrNW_004936508:4,943,987...5,013,356
Ensembl chrNW_004936508:4,944,007...5,013,356
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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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_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
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Phb1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chrNW_004936490:12,127,065...12,138,870
Ensembl chrNW_004936490:12,127,065...12,138,870
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Pou4f1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chrNW_004936511:2,857,017...2,859,705
Ensembl chrNW_004936511:2,857,331...2,859,277
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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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_004936481:3,821,564...3,828,086
G
Rb1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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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_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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Skp2
S-phase kinase associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chrNW_004936518:5,635,856...5,664,057
Ensembl chrNW_004936518:5,637,331...5,664,778
G
Srsf1
serine and arginine rich splicing factor 1
disease_progression
ISO
associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human)
RGD
PMID:19718710
RGD:11039410
NCBI chrNW_004936490:5,055,258...5,059,118
Ensembl chrNW_004936490:5,055,253...5,059,116
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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_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
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Tert
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
G
Thrb
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chrNW_004936473:15,766,214...15,986,389
Ensembl chrNW_004936473:15,770,146...15,986,561
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Top2a
DNA topoisomerase II alpha
ISO
RGD
PMID:19051821
RGD:2315126
NCBI chrNW_004936490:15,441,463...15,465,692
Ensembl chrNW_004936490:15,441,575...15,466,978
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Tp63
tumor protein p63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729
G
Tp73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
G
Xiap
X-linked inhibitor of apoptosis
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
NCBI chrNW_004936479:6,677,533...6,724,800
Ensembl chrNW_004936479:6,677,526...6,722,116
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
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_004936728:706,499...843,447
Ensembl chrNW_004936728:761,804...844,690
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Ang
angiogenin
ISO
protein:increased expression:breast
RGD
PMID:15776477
RGD:2325702
NCBI chrNW_004936880:39,372...40,070
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Anxa1
annexin A1
ISO
protein:decreased expression:mammary gland
RGD
PMID:22323911
RGD:7421537
NCBI chrNW_004936503:9,124,314...9,142,372
Ensembl chrNW_004936503:9,124,264...9,142,413
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Ar
androgen receptor
ISO
RGD
PMID:17543076
RGD:1643341
NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932
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Areg
amphiregulin
ISO
protein:increased expression:breast
RGD
PMID:8543395
RGD:2292664
NCBI chrNW_004936598:1,276,599...1,283,612
Ensembl chrNW_004936598:1,274,565...1,283,746
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Bcl2
BCL2 apoptosis regulator
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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Birc5
baculoviral IAP repeat containing 5
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:16421596
RGD:2293106
NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636
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Bnip3
BCL2 interacting protein 3
ISO
RGD
PMID:14648660
RGD:7483575
NCBI chrNW_004936486:18,449,371...18,460,435
Ensembl chrNW_004936486:18,448,494...18,455,927
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Brca1
BRCA1 DNA repair associated
treatment
ISO
RGD
PMID:25861310
RGD:127284854
NCBI chrNW_004936490:17,735,444...17,801,456
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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_004936472:26,945,659...27,017,693
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Ca9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433
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Casp6
caspase 6
ISO
protein:increased expression:breast
RGD
PMID:10574243
RGD:2301339
NCBI chrNW_004936563:912,502...920,025
Ensembl chrNW_004936563:911,304...919,119
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Ccnd1
cyclin D1
ISO
protein:decreased expression:breast
RGD
PMID:14612904
RGD:2289132
Ensembl chrNW_004936599:973,838...983,316
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Ccnd2
cyclin D2
ISO
DNA:hypermethylation:promoter, breast
RGD
PMID:14601057
RGD:2289156
NCBI chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810
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Cdkn1a
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:12628841
RGD:2289659
NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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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_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:9470844
RGD:2289952
NCBI chrNW_004936646:497,783...515,247
Ensembl chrNW_004936646:498,749...513,297
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:15788662
RGD:2289981
NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035
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Flt1
fms related receptor tyrosine kinase 1
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15841074
RGD:2289965
NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041
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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_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism protein:altered localization:nucleus
CTD RGD
PMID:16080559 PMID:20526721
RGD:2306227
NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
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Hoxb13
homeobox B13
ISO
DNA:hypermethylation
RGD
PMID:19250546
RGD:2314726
NCBI chrNW_004936490:12,688,572...12,690,908
Ensembl chrNW_004936490:12,688,559...12,690,908
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Ldhb
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23437403
NCBI chrNW_004936548:5,224,905...5,244,708
Ensembl chrNW_004936548:5,227,666...5,244,525
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LOC106145452
kallikrein-10
disease_progression
ISO
mRNA:decreased expression:breast
RGD
PMID:12788170
RGD:2314849
NCBI chrNW_004936889:663,114...666,067
Ensembl chrNW_004936889:663,573...667,519
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:breast
RGD
PMID:17642161
RGD:2290392
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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Notch4
notch receptor 4
ISO
RGD
PMID:17440163
RGD:2299156
NCBI chrNW_004936727:1,386,842...1,409,823
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Pak2
p21 (RAC1) activated kinase 2
ISO
RGD
PMID:22886747
RGD:7775026
NCBI chrNW_004936784:1,351,034...1,391,992
Ensembl chrNW_004936784:1,351,039...1,391,992
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Pgr
progesterone receptor
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chrNW_004936551:6,498,553...6,573,212
Ensembl chrNW_004936551:6,498,553...6,573,222
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Prkca
protein kinase C alpha
ISO
protein:decreased expression:breast
RGD
PMID:15454252
RGD:2292458
NCBI chrNW_004936541:6,231,604...6,488,201
Ensembl chrNW_004936541:6,233,110...6,488,052
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:breast
RGD
PMID:16353170
RGD:2300083
NCBI chrNW_004936487:16,959,263...16,968,909
Ensembl chrNW_004936487:16,959,231...16,968,922
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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_004936481:3,821,564...3,828,086
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Ptk2
protein tyrosine kinase 2
ISO
protein:increased expression:breast
RGD
PMID:15564794
RGD:2292561
NCBI chrNW_004936470:10,379,855...10,578,531
Ensembl chrNW_004936470:10,379,872...10,578,543
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Rb1
RB transcriptional corepressor 1
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:15312366
RGD:2299890
NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
DNA:amplification
RGD
PMID:17375183
RGD:2298754
NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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Slc2a1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chrNW_004936530:9,312,965...9,315,593
Ensembl chrNW_004936530:9,312,965...9,316,165
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Socs2
suppressor of cytokine signaling 2
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chrNW_004936507:10,013,982...10,015,480
Ensembl chrNW_004936507:10,012,101...10,014,456
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chrNW_004936594:2,932,297...2,935,358
Ensembl chrNW_004936594:2,933,747...2,934,451
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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_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:breast
RGD
PMID:17163404
RGD:2315089
NCBI chrNW_004936572:2,137,820...2,182,674
Ensembl chrNW_004936572:2,137,332...2,182,742
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Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression:breast
RGD
PMID:15010825
RGD:2291992
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chrNW_004936594:3,232,433...3,244,241
Ensembl chrNW_004936594:3,232,355...3,244,241
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chrNW_004936602:1,488,993...1,496,108
Ensembl chrNW_004936602:1,489,545...1,495,478
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Top2a
DNA topoisomerase II alpha
severity
ISO
protein:increased expression:breast
RGD
PMID:11070118
RGD:2315133
NCBI chrNW_004936490:15,441,463...15,465,692
Ensembl chrNW_004936490:15,441,575...15,466,978
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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_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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Tymp
thymidine phosphorylase
ISO
RGD
PMID:9306962
RGD:2293726
NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:breast
RGD
PMID:19623180
RGD:2315458
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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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_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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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_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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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_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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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_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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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_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16024599
RGD:2317522
NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931
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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_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989
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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_004936470:37,105,469...37,328,183
Ensembl chrNW_004936470:37,105,466...37,328,190
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Ccnb1
cyclin B1
ISO
associated with Vulvar Neoplasms;protein:increased expression:vulva
RGD
PMID:12610511
RGD:2296040
NCBI chrNW_004936480:400,287...407,677
Ensembl chrNW_004936480:399,224...407,704
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Ctnnb1
catenin beta 1
ISO
protein:decreased expression:breast
RGD
PMID:9496256
RGD:2289836
NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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Esr1
estrogen receptor 1
ISO
protein:increased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171
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Esr2
estrogen receptor 2
ISO
protein:decreased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357
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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_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174
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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_004936512:10,415,004...10,419,698
Ensembl chrNW_004936512:10,414,807...10,419,741
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LOC101968921
angiotensin-converting enzyme
ISO
associated with Pancreatic Neoplasms
RGD
PMID:19880966
RGD:2325208
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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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_004936486:15,561,327...15,587,109
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Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587
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Pdpn
podoplanin
ISO
mRNA:increased expression:testis
RGD
PMID:16736189
RGD:2292235
NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156
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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_004936837:827,568...838,933
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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_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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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_004936487:16,959,263...16,968,909
Ensembl chrNW_004936487:16,959,231...16,968,922
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:pancreas
RGD CTD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777
RGD:2317186 RGD:2317187
NCBI chrNW_004936481:3,821,564...3,828,086
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
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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_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910
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Sfn
stratifin
ISO
mRNA:decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chrNW_004936474:11,274,927...11,279,427
Ensembl chrNW_004936474:11,246,534...11,279,433
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Sfrp1
secreted frizzled related protein 1
ISO
testicular CIS; mRNA:increased expression:tumor
RGD
PMID:15123780
RGD:2301712
NCBI chrNW_004936785:1,276,478...1,320,397
Ensembl chrNW_004936785:1,276,420...1,321,017
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Xrcc1
X-ray repair cross complementing 1
ISO
associated with Lung Neoplasms
RGD
PMID:21530494
RGD:10045659
NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777
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Znf354a
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chrNW_004936647:16,233...18,411
Ensembl chrNW_004936647:15,966...17,935
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Cttn
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27148699
NCBI chrNW_004936599:481,234...503,857
Ensembl chrNW_004936599:481,243...501,743
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
DNA:amplification
RGD
PMID:16932067
RGD:2289933
NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
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Nuf2
NUF2 component of NDC80 kinetochore complex
disease_progression
ISO
RGD
PMID:27499128
RGD:28867233
NCBI chrNW_004936481:21,342,667...21,371,311
Ensembl chrNW_004936481:21,342,786...21,371,328
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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_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211
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Axin2
axin 2
disease_progression
ISO
RGD
PMID:28939076
RGD:151356661
NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470
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Bcl2
BCL2 apoptosis regulator
ISO
protein:increased expression:tongue:
RGD
PMID:12167434
RGD:8547871
NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
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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_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692
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LOC101966907
histone H2AX
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356
RGD:150340604
NCBI chrNW_004936542:4,046,930...4,049,017
Ensembl chrNW_004936542:4,047,915...4,048,346
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18202791
NCBI chrNW_004936481:3,821,564...3,828,086
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Snai1
snail family transcriptional repressor 1
disease_progression
ISO
RGD
PMID:28939076
RGD:151356661
NCBI chrNW_004936514:4,456,498...4,462,436
Ensembl chrNW_004936514:4,456,484...4,462,987
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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_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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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_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777
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Cirop
ciliated left-right organizer metallopeptidase
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar
PMID:25741868
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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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692
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Mplkip
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar
NCBI chrNW_004936478:15,421,612...15,423,894
Ensembl chrNW_004936478:15,420,463...15,423,946
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Amacr
alpha-methylacyl-CoA racemase
disease_progression
ISO
RGD
PMID:18343427
RGD:2315630
NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929
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Ang
angiogenin
ISO
RGD
PMID:19276260
RGD:2325697
NCBI chrNW_004936880:39,372...40,070
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Apex1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
protein:increased expression, altered localization:prostate, cytoplasm
RGD
PMID:11309329
RGD:2315666
NCBI chrNW_004936877:666,545...669,351
Ensembl chrNW_004936877:666,523...669,338
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932
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Areg
amphiregulin
ISO
protein:increased expression:prostate gland
RGD
PMID:14716741
RGD:2292659
NCBI chrNW_004936598:1,276,599...1,283,612
Ensembl chrNW_004936598:1,274,565...1,283,746
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Atm
ATM serine/threonine kinase
ISO
protein:increased serine phosphorylation:prostate gland
RGD
PMID:16997395
RGD:2293869
NCBI chrNW_004936551:359,134...534,672
Ensembl chrNW_004936551:359,362...532,211
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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_004936875:295,238...310,457
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Aurkb
aurora kinase B
ISO
RGD
PMID:16707419
RGD:2293877
NCBI chrNW_004936595:1,435,601...1,437,423
Ensembl chrNW_004936595:1,435,852...1,440,351
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Btg2
BTG anti-proliferation factor 2
ISO
protein:decreased expression:prostate gland
RGD
PMID:11470758
RGD:2289070
NCBI chrNW_004936567:1,310,525...1,314,469
Ensembl chrNW_004936567:1,309,658...1,314,515
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Carm1
coactivator associated arginine methyltransferase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15221992
RGD:2293206
NCBI chrNW_004936659:1,071,883...1,120,917
Ensembl chrNW_004936659:1,090,164...1,123,920
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Ccnd1
cyclin D1
ISO
mRNA, protein:decreased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
Ensembl chrNW_004936599:973,838...983,316
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Ccne1
cyclin E1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chrNW_004936570:5,536,817...5,547,880
Ensembl chrNW_004936570:5,536,672...5,548,008
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chrNW_004936475:18,990,529...19,065,954
Ensembl chrNW_004936475:18,990,474...19,067,203
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Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:18691549 PMID:20932324
RGD:2299085
NCBI chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461
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Creb3l4
cAMP responsive element binding protein 3 like 4
severity
ISO
RGD
PMID:17270658
RGD:13504714
NCBI chrNW_004936580:3,715,122...3,720,154
Ensembl chrNW_004936580:3,715,027...3,724,282
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:prostate gland
RGD
PMID:12381783
RGD:2293712
NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171
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Esr2
estrogen receptor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357
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Fgf6
fibroblast growth factor 6
ISO
protein:increased expression:prostate gland
RGD
PMID:2289066
RGD:2301089
NCBI chrNW_004936606:4,613,052...4,624,587
Ensembl chrNW_004936606:4,613,048...4,624,587
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Fgf8
fibroblast growth factor 8
ISO
RGD
PMID:12208767
RGD:2301097
NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689
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Fgfr1
fibroblast growth factor receptor 1
ISO
RGD
PMID:18068632
RGD:2298702
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
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Fgfr2
fibroblast growth factor receptor 2
ISO
RGD
PMID:14695195
RGD:2301192
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
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Flt1
fms related receptor tyrosine kinase 1
ISO
protein:decreased expression:prostate gland
RGD
PMID:10893635
RGD:2301255
NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041
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Fzd4
frizzled class receptor 4
ISO
protein:increased expression:prostate gland
RGD
PMID:18068632
RGD:2298702
NCBI chrNW_004936498:14,657,641...14,666,853
Ensembl chrNW_004936498:14,662,659...14,666,883
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22581815 PMID:24312188
RGD:10401940
NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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Hdac1
histone deacetylase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15042618
RGD:2306219
NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
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Igf1
insulin like growth factor 1
ISO
protein:increased expression:prostate gland
RGD
PMID:19171036
RGD:2306713
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19117991
RGD:2314913
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Lef1
lymphoid enhancer binding factor 1
ISO
RGD
PMID:27067790
RGD:11531513
NCBI chrNW_004936818:453,635...569,194
Ensembl chrNW_004936818:453,635...567,469
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LOC101954950
aromatase
ISO
RGD
PMID:19700748
RGD:7257711
NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910
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Lrp1
LDL receptor related protein 1
ISO
protein:increased expression:prostate gland
RGD
PMID:14623925
RGD:1625030
NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456
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Map2k4
mitogen-activated protein kinase kinase 4
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chrNW_004936595:4,762,327...4,828,433
Ensembl chrNW_004936595:4,727,108...4,830,662
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Map2k7
mitogen-activated protein kinase kinase 7
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chrNW_004936588:4,882,191...4,891,807
Ensembl chrNW_004936588:4,882,184...4,892,071
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:10861747
RGD:10059615
NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965
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Phb1
prohibitin 1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:18384941
RGD:2292382
NCBI chrNW_004936490:12,127,065...12,138,870
Ensembl chrNW_004936490:12,127,065...12,138,870
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Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chrNW_004936476:22,295,023...22,300,155
Ensembl chrNW_004936476:22,295,021...22,300,161
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Prss8
serine protease 8
disease_progression
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:12518323
RGD:2292484
NCBI chrNW_004936501:13,487,863...13,491,837
Ensembl chrNW_004936501:13,485,310...13,491,905
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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_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:altered localization
RGD
PMID:18468781
RGD:2300123
NCBI chrNW_004936481:3,821,564...3,828,086
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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_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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Rxra
retinoid X receptor alpha
ISO
protein:decreased expression:prostate
RGD
PMID:15318950
RGD:1643115
NCBI chrNW_004936669:2,735,111...2,763,060
Ensembl chrNW_004936669:2,738,448...2,763,070
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Slc30a4
solute carrier family 30 member 4
ISO
protein:decreased expression:prostate gland
RGD
PMID:12955079
RGD:2299948
NCBI chrNW_004936471:8,125,839...8,155,720
Ensembl chrNW_004936471:8,125,759...8,155,726
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Smad4
SMAD family member 4
ISO
protein:increased expression:prostate gland
RGD
PMID:15017584
RGD:2300005
NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:prostate gland
RGD
PMID:18813126
RGD:2315088
NCBI chrNW_004936572:2,137,820...2,182,674
Ensembl chrNW_004936572:2,137,332...2,182,742
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Stk11
serine/threonine kinase 11
ISO
RGD
PMID:18381428
RGD:2291943
NCBI chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
RGD
PMID:16940965
RGD:2290433
NCBI chrNW_004936602:1,488,993...1,496,108
Ensembl chrNW_004936602:1,489,545...1,495,478
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Top2b
DNA topoisomerase II beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chrNW_004936473:17,146,576...17,189,589
Ensembl chrNW_004936473:17,143,894...17,189,605
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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_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729
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Foxp3
forkhead box P3
severity
ISO
DNA:SNP::rs3761548(human)
RGD
PMID:31177386
RGD:38501104
NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
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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_004936562:1,960,406...1,974,809
Ensembl chrNW_004936562:1,960,406...1,974,867
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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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692
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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_004936469:43,970,002...43,998,279
Ensembl chrNW_004936469:43,969,740...43,998,448
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 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_004936501:2,301,072...2,329,346
Ensembl chrNW_004936501:2,300,835...2,329,351
G
Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 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_004936472:8,209,482...8,234,696
Ensembl chrNW_004936472:8,209,540...8,234,334
G
Klc3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
NCBI chrNW_004936706:1,811,727...1,816,485
Ensembl chrNW_004936706:1,812,068...1,819,639
G
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_004936476:16,400,026...16,434,538
Ensembl chrNW_004936476:16,401,517...16,429,287
G
Terf2
telomeric repeat binding factor 2
ISO
MouseDO
NCBI chrNW_004936475:19,469,501...19,498,494
Ensembl chrNW_004936475:19,468,702...19,498,793
G
Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532
NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738
G
Xpa
XPA, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 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_004936524:6,467,365...6,493,556
Ensembl chrNW_004936524:6,465,104...6,493,610
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_004936602:118,173...139,884
Ensembl chrNW_004936602:118,188...139,675
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_004936524:6,467,365...6,493,556
Ensembl chrNW_004936524:6,465,104...6,493,610
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_004936602:118,173...139,884
Ensembl chrNW_004936602:118,188...139,675
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_004936469:43,970,002...43,998,279
Ensembl chrNW_004936469:43,969,740...43,998,448
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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692
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_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738
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_004936602:118,173...139,884
Ensembl chrNW_004936602:118,188...139,675
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar
NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745
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_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692
G
Klc3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar
PMID:25741868
NCBI chrNW_004936706:1,811,727...1,816,485
Ensembl chrNW_004936706:1,812,068...1,819,639
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar
PMID:25741868 PMID:28492532 PMID:33471991
NCBI chrNW_004936508:4,708,661...4,728,671
Ensembl chrNW_004936508:4,708,661...4,728,787
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_004936562:1,960,406...1,974,809
Ensembl chrNW_004936562:1,960,406...1,974,867
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_004936501:2,301,072...2,329,346
Ensembl chrNW_004936501:2,300,835...2,329,351
G
Mrtfb
myocardin related transcription factor B
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar
PMID:28492532
NCBI chrNW_004936501:2,414,696...2,571,627
Ensembl chrNW_004936501:2,468,345...2,567,234
G
Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar
PMID:28492532
NCBI chrNW_004936501:2,666,908...2,810,159
Ensembl chrNW_004936501:2,666,874...2,810,488
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_004936472:8,209,482...8,234,696
Ensembl chrNW_004936472:8,209,540...8,234,334
G
Polh
DNA polymerase eta
ISO
ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
ClinVar OMIM
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_004936476:16,400,026...16,434,538
Ensembl chrNW_004936476:16,401,517...16,429,287
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
OMIM:610965
MouseDO
NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745
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_004936501:2,301,072...2,329,346
Ensembl chrNW_004936501:2,300,835...2,329,351
G
Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: XFE progeroid syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936660:2,575,255...2,622,867
Ensembl chrNW_004936660:2,575,360...2,622,852
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all