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
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734
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ACTC1
actin alpha cardiac muscle 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr26:48,105,271...48,110,670
Ensembl chr26:48,105,216...48,110,896
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ACY1
aminoacylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr22:13,353,446...13,359,274
Ensembl chr22:13,353,588...13,359,569
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AKT1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr11:107,019,015...107,060,784
Ensembl chr11:107,019,111...107,060,374
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ALDH4A1
aldehyde dehydrogenase 4 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr20:113,661,850...113,693,665
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ANXA4
annexin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr14:37,297,960...37,384,187
Ensembl chr14:37,297,652...37,344,884
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AOPEP
aminopeptidase O (putative)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr12:108,007,895...108,360,361
Ensembl chr12:108,171,743...108,360,041
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ARG1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr13:41,971,955...41,983,372
Ensembl chr13:41,971,802...41,983,049
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ATM
ATM serine/threonine kinase
ISO
protein:decreased expression:hepatocyte
RGD
PMID:11751435
RGD:1599367
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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ATP5F1B
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr11:52,587,608...52,600,057
Ensembl chr11:52,587,143...52,600,756
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chr 6:42,186,028...42,193,105
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BCAT2
branched chain amino acid transaminase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr 6:42,031,003...42,051,770
Ensembl chr 6:42,030,984...42,049,050
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CASP3
caspase 3
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899
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CASP8
caspase 8
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
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CASP9
caspase 9
treatment
ISO
associated with gastric adenocarcinoma
RGD
PMID:29588340
RGD:13792594
NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14580687
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
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CCDC134
coiled-coil domain containing 134
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr19:24,332,293...24,358,056
Ensembl chr19:24,332,316...24,357,583
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CCND1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CDKN1A
cyclin dependent kinase inhibitor 1A
treatment
ISO
RGD
PMID:23857431
RGD:10043364
NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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CDX2
caudal type homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29439001
NCBI chr 3:7,080,142...7,088,010
Ensembl chr 3:7,078,503...7,087,285
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CEBPA
CCAAT enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21785164
NCBI chr 6:28,342,506...28,345,759
Ensembl chr 6:28,343,907...28,344,977
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CFL1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 1:8,408,560...8,410,564
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CISH
cytokine inducible SH2 containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chr22:11,993,212...11,998,625
Ensembl chr22:11,993,242...11,995,375
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COG4
component of oligomeric golgi complex 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 5:53,635,045...53,673,205
Ensembl chr 5:53,635,485...53,673,227
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COL23A1
collagen type XXIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr23:79,932,340...80,279,808
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CPS1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
treatment
ISO
RGD
PMID:22982628
RGD:151708740
NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
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DDX54
DEAD-box helicase 54
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr11:108,407,623...108,437,188
Ensembl chr11:108,404,719...108,437,168
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DPP10
dipeptidyl peptidase like 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr10:14,434,244...15,822,419
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EFNB2
ephrin B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465
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EGF
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26390243
NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
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EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chr 8:36,063,311...36,092,439
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ERGIC3
ERGIC and golgi 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27588471
NCBI chr 2:56,474,811...56,482,788
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EXOSC2
exosome component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr12:7,441,812...7,452,979
Ensembl chr12:7,442,791...7,452,964
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FOXM1
forkhead box M1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:13679865
NCBI chr11:2,920,903...2,941,011
Ensembl chr11:2,920,663...2,940,823
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FTH1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21785164
NCBI chr 1:11,837,533...11,840,926
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GJB1
gap junction protein beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2559087
NCBI chr X:61,013,991...61,019,222
Ensembl chr X:61,017,716...61,018,567
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GLI1
GLI family zinc finger 1
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269
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GLI3
GLI family zinc finger 3
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238
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GSTA4
glutathione S-transferase alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20180811
NCBI chr17:19,575,835...19,591,713
Ensembl chr17:19,575,876...19,591,919
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GSTO1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 9:97,305,094...97,317,892
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GSTP1
glutathione S-transferase pi 1
treatment
ISO
associated with stomach disease associated with Metabolic Syndrome X CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental
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 chr 1:6,676,897...6,679,936
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HADH
hydroxyacyl-CoA dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 7:55,919,499...55,965,074
Ensembl chr 7:55,919,623...55,964,857
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HIGD2A
HIG1 hypoxia inducible domain family member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr23:78,392,364...78,393,407
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HRAS
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2675901
NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
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IFT88
intraflagellar transport 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9362446
NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16092956
NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
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IGFBP1
insulin like growth factor binding protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12619036
NCBI chr21:12,932,727...12,939,078
Ensembl chr21:12,932,732...12,937,891
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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INSR
insulin receptor
ISO
associated with Carcinoma, Hepatocellular
RGD
PMID:21411721
RGD:10403043
NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592
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IRS1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9466558
NCBI chr10:112,748,283...112,812,368
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KLF7
KLF transcription factor 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:38184286
NCBI chr10:92,854,234...92,943,908
Ensembl chr10:92,859,000...92,944,062
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KRT8
keratin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr11:49,027,879...49,051,753
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LOC103224275
glutathione S-transferase Mu 1
ISO
associated with stomach disease
RGD
PMID:28182092
RGD:14700971
NCBI chr20:23,854,969...23,861,634
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LOC103233229
cadherin-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
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LOC103233614
cytochrome b-c1 complex subunit 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr 6:1,378,019...1,388,975
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MAP2K7
mitogen-activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21317887
NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398
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MAPK8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21317887
NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425
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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 chr23:81,965,330...82,026,414
Ensembl chr23:81,963,899...82,013,659
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MDM2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14555611
NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24991542
NCBI chr 9:122,089,768...122,376,320
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MMP7
matrix metallopeptidase 7
ISO
RGD
PMID:9850086
RGD:9685350
NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587
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MPO
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14580687
NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671
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MUC1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
protein:decreased expression:colon
RGD
PMID:17847023
RGD:7349371
NCBI chr 1:893,554...926,854
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NFKBIA
NFKB inhibitor alpha
treatment
ISO
associated with Liver Neoplasms
RGD
PMID:20045035
RGD:10413878
NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854
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NOP16
NOP16 nucleolar protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr23:78,387,634...78,392,405
Ensembl chr23:78,387,877...78,392,238
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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 chr20:2,724,843...2,752,999
Ensembl chr20:2,744,908...2,756,658
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PBLD
phenazine biosynthesis like protein domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 9:63,061,291...63,108,098
Ensembl chr 9:63,084,627...63,106,874
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PEBP1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr11:113,469,845...113,479,177
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PHB1
prohibitin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
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PIM1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chr17:34,968,661...34,973,920
Ensembl chr17:34,968,429...34,973,760
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PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D
ISO
RGD
PMID:12021784
RGD:1599171
NCBI chr16:31,833,145...31,900,962
Ensembl chr16:31,833,160...31,900,963
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PRDX1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr20:87,267,026...87,277,634
Ensembl chr20:87,267,044...87,279,978
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PRICKLE2
prickle planar cell polarity protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 4:39,516,307...39,553,627
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PRKG1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 9:78,858,269...80,188,163
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PSCA
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 8:136,925,881...136,929,257
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PSD2
pleckstrin and Sec7 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr23:42,447,804...42,496,066
Ensembl chr23:42,461,486...42,494,067
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:19522023
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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SFTPD
surfactant protein D
ISO
protein:decreased expression:lung
RGD
PMID:18779194
RGD:4143498
NCBI chr 9:51,809,241...51,820,974
Ensembl chr 9:51,811,052...51,820,650
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SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395
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SIRPA
signal regulatory protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 2:54,590,151...54,636,381
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SIX3
SIX homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr14:62,278,124...62,292,942
Ensembl chr14:62,278,461...62,281,127
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SLC52A3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 2:55,744,934...55,760,957
Ensembl chr 2:55,752,837...55,761,120
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SMAD3
SMAD family member 3
ISO
protein:increased phosphorylation:liver
RGD
PMID:24680176
RGD:12903951
NCBI chr26:16,319,959...16,446,472
Ensembl chr26:16,320,933...16,446,527
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SMAD4
SMAD family member 4
treatment
ISO
RGD
PMID:24680176
RGD:12903951
NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
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SMO
smoothened, frizzled class receptor
ISO
RGD
PMID:30537251
RGD:150520178
NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709
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SOCS4
suppressor of cytokine signaling 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chr24:32,198,438...32,227,240
Ensembl chr24:32,220,800...32,222,122
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332 PMID:21472284
NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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STAT3
signal transducer and activator of transcription 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23596790 PMID:26297436
RGD:8694319
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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STAT5A
signal transducer and activator of transcription 5A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15609129
NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026
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SUFU
SUFU negative regulator of hedgehog signaling
ISO
mRNA:decreased expression:stomach mucosa (rat)
RGD
PMID:30537251
RGD:150520178
NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
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SULF1
sulfatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127996
NCBI chr 8:65,242,921...65,435,374
Ensembl chr 8:65,341,154...65,435,450
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TET2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Clonal hematopoiesis
ClinVar
PMID:25741868 PMID:33057201 PMID:35714308
NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942
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TLR2
toll like receptor 2
ISO
mRNA:increased expression:colon
RGD
PMID:22242189
RGD:151347836
NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
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TMEM132D
transmembrane protein 132D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr11:124,425,472...125,256,613
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TNK2
tyrosine kinase non receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr15:91,187,702...91,232,391
Ensembl chr15:91,201,008...91,232,399
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TP53
tumor protein p53
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21317887 PMID:28573231
RGD:14995494
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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TPM4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15986332
NCBI chr 6:14,566,958...14,604,754
Ensembl chr 6:14,566,869...14,598,934
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TRIO
trio Rho guanine nucleotide exchange factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr 4:13,846,753...14,214,647
Ensembl chr 4:13,847,936...14,215,164
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TRIT1
tRNA isopentenyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr20:93,017,385...93,065,601
Ensembl chr20:93,017,428...93,064,904
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TSC2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26297436
NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682
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TTLL9
tubulin tyrosine ligase like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr 2:36,259,106...36,340,711
Ensembl chr 2:36,268,132...36,332,618
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12399228
NCBI chr17:28,377,959...28,394,508
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WSCD1
WSC domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr16:5,452,255...5,504,686
Ensembl chr16:5,318,532...5,507,872
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YIF1A
Yip1 interacting factor homolog A, membrane trafficking protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr 1:7,977,690...7,982,313
Ensembl chr 1:7,977,867...7,984,211
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ZBTB20
zinc finger and BTB domain containing 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr22:65,715,470...66,528,195
Ensembl chr22:66,511,237...66,524,064
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ZBTB8OS
zinc finger and BTB domain containing 8 opposite strand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19233941
NCBI chr20:100,221,153...100,252,884
Ensembl chr20:100,220,958...100,254,697
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APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14507667
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
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CTNNB1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10965019 PMID:12351151 PMID:14507667
NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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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 chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514
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GCG
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22323126
NCBI chr10:47,550,097...47,560,610
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GSK3B
glycogen synthase kinase 3 beta
treatment
ISO
RGD
PMID:23554136
RGD:13210771
NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239
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LOC103219825
protein patched homolog 1
ISO
DNA:hypermethylation:colon
RGD
PMID:22945423
RGD:150520176
NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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MAPK1
mitogen-activated protein kinase 1
ISO
RGD
PMID:23467982
RGD:13210776
NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325
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MAPK3
mitogen-activated protein kinase 3
ISO
RGD
PMID:23467982
RGD:13210776
NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461
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MYC
MYC proto-oncogene, bHLH transcription factor
treatment
ISO
RGD
PMID:8449605
RGD:13432056
NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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TGFB2
transforming growth factor beta 2
treatment
ISO
RGD
PMID:17293967
RGD:13432080
NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470
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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 chr26:42,620,401...42,631,932
Ensembl chr26:42,621,084...42,631,822
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LOC103216270
cytochrome P450 26A1
ISO
RGD
PMID:22179182
RGD:13782258
NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775
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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 chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774
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TGFB1
transforming growth factor beta 1
ISO
RGD
PMID:9274625
RGD:7394827
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
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FANCF
FA complementation group F
disease_progression
ISO
DNA:hypermethylation:promoter:
RGD
PMID:14647419
RGD:11049137
NCBI chr 1:42,377,150...42,381,653
Ensembl chr 1:42,378,883...42,380,007
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IGF2R
insulin like growth factor 2 receptor
ISO
DNA:loss of heterozygosity
RGD
PMID:8649861
RGD:2311631
NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
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ADAM9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:uterine cervix
RGD
PMID:19473694
RGD:2325246
NCBI chr 8:37,017,827...37,131,462
Ensembl chr 8:37,017,545...37,131,615
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18561741
RGD:2298889
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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BRCA1
BRCA1 DNA repair associated
ISO
DNA:deletions:exon
RGD
PMID:10442317
RGD:2298942
NCBI chr16:63,162,827...63,243,928
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CADM1
cell adhesion molecule 1
severity
ISO
RGD
PMID:17009984
RGD:2289089
NCBI chr 1:106,539,262...106,876,397
Ensembl chr 1:106,539,136...106,606,637
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CCND1
cyclin D1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CCNE1
cyclin E1
ISO
protein:increased expression:uterine cervix
RGD
PMID:18301453
RGD:2293574
NCBI chr 6:24,879,923...24,888,985
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CD274
CD274 molecule
severity
ISO
associated with Papillomavirus Infections; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
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CD46
CD46 molecule
ISO
protein:increased expression:uterine cervix
RGD
PMID:9358772
RGD:2293549
NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878
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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 chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:epithelial cell:
RGD
PMID:9546362
RGD:8662446
NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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CDKN1B
cyclin dependent kinase inhibitor 1B
disease_progression
ISO
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium
RGD
PMID:18301453
RGD:2293574
NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531
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CSF1R
colony stimulating factor 1 receptor
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
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CTNNA1
catenin alpha 1
disease_progression
ISO
protein:decreased expression:uterine cervix
RGD
PMID:11161853
RGD:2289797
NCBI chr23:41,423,504...41,599,458
Ensembl chr23:41,447,675...41,600,190
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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 chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652
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FASLG
Fas ligand
ISO
associated with Papillomavirus Infections
RGD
PMID:17433060
RGD:2290052
NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
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HDAC2
histone deacetylase 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742
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HDAC6
histone deacetylase 6
ISO
protein:increased expression:uterine cervix
RGD
PMID:19147762
RGD:2306200
NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929
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IGFBP3
insulin like growth factor binding protein 3
ISO
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01)
RGD
PMID:14675666 PMID:17709267
RGD:2290004 RGD:2290021
NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
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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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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LOC103233229
cadherin-1
ISO
DNA:hypermethylation:uterine cervix
RGD
PMID:17894941
RGD:2289490
NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
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LOC103244924
cyclin-G1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16845792
RGD:2316022
NCBI chr23:65,709,759...65,716,913
Ensembl chr23:65,709,786...65,714,711
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MGP
matrix Gla protein
ISO
RGD
PMID:17960611
RGD:2293584
NCBI chr11:14,776,668...14,780,796
Ensembl chr11:14,776,209...14,780,947
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MLH1
mutL homolog 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393
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MMP2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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MSH2
mutS homolog 2
ISO
protein:increased expression:uterine cervix
RGD
PMID:15807307
RGD:2293515
NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303386
NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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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 chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
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PHB1
prohibitin 1
ISO
protein:increased expression:uterine cervix
RGD
PMID:16426920
RGD:2292398
NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
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POU4F1
POU class 4 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20190800
NCBI chr 3:57,667,248...57,673,071
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PTEN
phosphatase and tensin homolog
ISO
protein:decreased expression:uterine cervix
RGD
PMID:17672936
RGD:2298701
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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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 chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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RB1
RB transcriptional corepressor 1
ISO
associated with Adenocarcinoma
RGD
PMID:18234283
RGD:2299896
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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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 chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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SKP2
S-phase kinase associated protein 2
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:19094580
RGD:2315036
NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632
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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 chr16:35,392,573...35,396,815
Ensembl chr16:35,392,873...35,394,982
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STAT3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased serine phosphorylation:cervix epithelium protein:increased expression:nucleus
RGD
PMID:16005944 PMID:17110342
RGD:2291916 RGD:2298536
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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TERT
telomerase reverse transcriptase
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:17644806
RGD:2291985
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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THRB
thyroid hormone receptor beta
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11483913
RGD:2315099
NCBI chr15:68,797,410...69,161,256
Ensembl chr15:68,802,078...68,902,292
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TOP2A
DNA topoisomerase II alpha
ISO
RGD
PMID:19051821
RGD:2315126
NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
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TP63
tumor protein p63
disease_progression
ISO
RGD
PMID:16804722
RGD:2315435
NCBI chr15:83,861,489...84,126,675
G
TP73
tumor protein p73
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:11870517
RGD:2290589
NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:uterine cervix
RGD
PMID:19723043
RGD:2315456
NCBI chr17:28,377,959...28,394,508
G
XIAP
X-linked inhibitor of apoptosis
ISO
protein:increased expression:uterine cervix
RGD
PMID:18325467
RGD:2315850
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ANG
angiogenin
ISO
protein:increased expression:breast
RGD
PMID:15776477
RGD:2325702
NCBI chr29:21,215,985...21,226,927
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ANXA1
annexin A1
ISO
protein:decreased expression:mammary gland
RGD
PMID:22323911
RGD:7421537
NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562
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AR
androgen receptor
ISO
RGD
PMID:17543076
RGD:1643341
NCBI chr X:57,380,587...57,553,613
Ensembl chr X:57,380,611...57,546,776
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AREG
amphiregulin
ISO
protein:increased expression:breast
RGD
PMID:8543395
RGD:2292664
NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
G
BIRC5
baculoviral IAP repeat containing 5
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:16421596
RGD:2293106
NCBI chr16:70,226,824...70,237,000
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BNIP3
BCL2 interacting protein 3
ISO
RGD
PMID:14648660
RGD:7483575
NCBI chr 9:124,570,958...124,586,002
Ensembl chr 9:124,568,695...124,585,980
G
BRCA1
BRCA1 DNA repair associated
treatment
ISO
RGD
PMID:25861310
RGD:127284854
NCBI chr16:63,162,827...63,243,928
G
BRCA2
BRCA2 DNA repair associated
treatment onset
ISO
DNA:missense mutation: :5972C>T
RGD
PMID:16280055 PMID:25861310
RGD:127284854 RGD:2289048
NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
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CA9
carbonic anhydrase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr12:44,921,530...44,929,504
Ensembl chr12:44,921,665...44,928,831
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CASP6
caspase 6
ISO
protein:increased expression:breast
RGD
PMID:10574243
RGD:2301339
NCBI chr 7:57,592,632...57,616,094
Ensembl chr 7:57,593,342...57,607,489
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CCND1
cyclin D1
ISO
protein:decreased expression:breast
RGD
PMID:14612904
RGD:2289132
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
G
CCND2
cyclin D2
ISO
DNA:hypermethylation:promoter, breast
RGD
PMID:14601057
RGD:2289156
NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661
G
CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:12628841
RGD:2289659
NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
G
ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:15788662 PMID:17119686
RGD:2289931 RGD:2289981
NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
G
ERBB3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:9470844
RGD:2289952
NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028
G
ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:15788662
RGD:2289981
NCBI chr10:97,099,090...98,281,697
G
FLT1
fms related receptor tyrosine kinase 1
ISO
associated with Carcinoma, Ductal, Breast
RGD
PMID:15841074
RGD:2289965
NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967
G
FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:breast
RGD
PMID:17254320
RGD:2293756
NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism protein:altered localization:nucleus
CTD RGD
PMID:16080559 PMID:20526721
RGD:2306227
NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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HOXB13
homeobox B13
ISO
DNA:hypermethylation
RGD
PMID:19250546
RGD:2314726
NCBI chr16:69,137,561...69,141,615
Ensembl chr16:69,137,585...69,139,382
G
KLK10
kallikrein related peptidase 10
disease_progression
ISO
mRNA:decreased expression:breast
RGD
PMID:12788170
RGD:2314849
NCBI chr 6:44,034,371...44,039,966
Ensembl chr 6:44,034,682...44,038,607
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LDHB
lactate dehydrogenase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23437403
NCBI chr11:21,489,815...21,511,892
Ensembl chr11:21,488,814...21,511,938
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MMP2
matrix metallopeptidase 2
ISO
protein:increased expression:breast
RGD
PMID:17642161
RGD:2290392
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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NOTCH4
notch receptor 4
ISO
RGD
PMID:17440163
RGD:2299156
NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365
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PAK2
p21 (RAC1) activated kinase 2
ISO
RGD
PMID:22886747
RGD:7775026
NCBI chr15:90,474,367...90,488,814
Ensembl chr15:90,398,660...90,449,346 Ensembl chr15:90,398,660...90,449,346
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PGR
progesterone receptor
disease_progression
ISO
RGD
PMID:12628841
RGD:2289659
NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296
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PRKCA
protein kinase C alpha
ISO
protein:decreased expression:breast
RGD
PMID:15454252
RGD:2292458
NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256
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PTGES
prostaglandin E synthase
ISO
protein:increased expression:breast
RGD
PMID:16353170
RGD:2300083
NCBI chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435
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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 chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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PTK2
protein tyrosine kinase 2
ISO
protein:increased expression:breast
RGD
PMID:15564794
RGD:2292561
NCBI chr 8:134,897,511...135,246,300
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RB1
RB transcriptional corepressor 1
ISO
mRNA, protein:decreased expression:breast
RGD
PMID:15312366
RGD:2299890
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
DNA:amplification
RGD
PMID:17375183
RGD:2298754
NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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SLC2A1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033
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SOCS1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991
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SOCS2
suppressor of cytokine signaling 2
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr11:88,964,805...88,971,147
Ensembl chr11:88,966,940...88,971,515
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SOCS3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
severity
ISO
protein:increased activity:breast
RGD
PMID:17060931
RGD:2315078
NCBI chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776
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ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:breast
RGD
PMID:17163404
RGD:2315089
NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007
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STAT5A
signal transducer and activator of transcription 5A
ISO
protein:altered localization:nucleus CTD Direct Evidence: marker/mechanism protein:decreased expression:breast
RGD CTD
PMID:15609129 PMID:16133357
RGD:2291930 RGD:2291932
NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026
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TERT
telomerase reverse transcriptase
ISO
mRNA:decreased expression:breast
RGD
PMID:15010825
RGD:2291992
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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TFF1
trefoil factor 1
ISO
RGD
PMID:15375487
RGD:2292005
NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
protein:increased expression:breast
RGD
PMID:14744773
RGD:2290436
NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600
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TOP2A
DNA topoisomerase II alpha
severity
ISO
protein:increased expression:breast
RGD
PMID:11070118
RGD:2315133
NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
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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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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TYMP
thymidine phosphorylase
ISO
RGD
PMID:9306962
RGD:2293726
NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:breast
RGD
PMID:19623180
RGD:2315458
NCBI chr17:28,377,959...28,394,508
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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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
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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 chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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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 chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16024599
RGD:2317522
NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331
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ALPL
alkaline phosphatase, biomineralization associated
ISO
associated with Testicular Neoplasms;protein:increased expression:testis
RGD
PMID:10547581
RGD:2315616
NCBI chr20:111,055,583...111,124,143
Ensembl chr20:111,055,558...111,081,850
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ANGPT1
angiopoietin 1
ISO
associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland
RGD
PMID:15459484
RGD:1626167
NCBI chr 8:102,020,346...102,268,443
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CASP1
caspase 1
ISO
associated with Carcinoma, Lobular
RGD
PMID:17375183
RGD:2298754
NCBI chr 1:96,389,697...96,400,610
Ensembl chr 1:96,389,657...96,400,849
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CCNB1
cyclin B1
ISO
associated with Vulvar Neoplasms;protein:increased expression:vulva
RGD
PMID:12610511
RGD:2296040
NCBI chr 4:65,265,798...65,276,465
Ensembl chr 4:65,265,844...65,277,085
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CTNNB1
catenin beta 1
ISO
protein:decreased expression:breast
RGD
PMID:9496256
RGD:2289836
NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
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ESR1
estrogen receptor 1
ISO
protein:increased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
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ESR2
estrogen receptor 2
ISO
protein:decreased expression:breast
RGD
PMID:17924141
RGD:2290024
NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
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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 chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
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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 chr11:49,209,135...49,213,803
Ensembl chr11:49,209,136...49,213,858
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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 chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
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PDGFRA
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
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PDPN
podoplanin
ISO
mRNA:increased expression:testis
RGD
PMID:16736189
RGD:2292235
NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311
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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 chr17:41,306,523...41,313,065
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PTEN
phosphatase and tensin homolog
ISO
associated with Endometrial Neoplasms;protein:decreased expression:endometrium
RGD
PMID:17349568
RGD:2289828
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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PTGES
prostaglandin E synthase
ISO
protein:increased expression:penis, skin protein:increased expression:urinary bladder
RGD
PMID:14499677 PMID:14871981
RGD:2300087 RGD:2300088
NCBI chr12:8,393,462...8,408,441
Ensembl chr12:8,393,550...8,408,435
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:pancreas
CTD RGD
PMID:10582676 PMID:10873095 PMID:17652141 PMID:18617777
RGD:2317186 RGD:2317187
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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RB1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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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 chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
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SFN
stratifin
ISO
mRNA:decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr20:105,902,481...105,904,313
Ensembl chr20:105,902,974...105,903,720
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SFRP1
secreted frizzled related protein 1
ISO
testicular CIS; mRNA:increased expression:tumor
RGD
PMID:15123780
RGD:2301712
NCBI chr 8:39,243,775...39,289,050
Ensembl chr 8:39,243,780...39,288,984
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XRCC1
X-ray repair cross complementing 1
ISO
associated with Lung Neoplasms
RGD
PMID:21530494
RGD:10045659
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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ZNF354A
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chr23:80,407,134...80,425,920
Ensembl chr23:80,407,085...80,423,055
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CTTN
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27148699
NCBI chr 1:4,139,045...4,176,962
Ensembl chr 1:4,137,814...4,176,446
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LOC103224275
glutathione S-transferase Mu 1
ISO
RGD
PMID:14735473
RGD:14701001
NCBI chr20:23,854,969...23,861,634
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
DNA:amplification
RGD
PMID:16932067
RGD:2289933
NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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NUF2
NUF2 component of NDC80 kinetochore complex
disease_progression
ISO
RGD
PMID:27499128
RGD:28867233
NCBI chr25:65,462,608...65,493,242
Ensembl chr25:65,462,603...65,493,246
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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 chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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AXIN2
axin 2
disease_progression
ISO
RGD
PMID:28939076
RGD:151356661
NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281
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BCL2
BCL2 apoptosis regulator
ISO
protein:increased expression:tongue:
RGD
PMID:12167434
RGD:8547871
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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CDKN1A
cyclin dependent kinase inhibitor 1A
susceptibility
ISO
DNA:polymorphism:exon:149A>G(human)
RGD
PMID:10873097
RGD:8662371
NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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H2AFX
histone H2AX
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356
RGD:150340604
NCBI chr 1:110,466,692...110,468,776
Ensembl chr 1:110,467,775...110,468,206
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LOC103224275
glutathione S-transferase Mu 1
ISO
RGD
PMID:18507060
RGD:14700975
NCBI chr20:23,854,969...23,861,634
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NAT2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms,haplotype:exon:
RGD
PMID:17290401
RGD:8552678
NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18202791
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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SNAI1
snail family transcriptional repressor 1
disease_progression
ISO
RGD
PMID:28939076
RGD:151356661
NCBI chr 2:13,988,059...13,993,780
Ensembl chr 2:13,988,024...13,993,746
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TP53
tumor protein p53
ISO
DNA:mutations:cds: protein:increased expression:oral mucosa:
RGD
PMID:12167434 PMID:23776093
RGD:8547855 RGD:8547871
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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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 chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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MPLKIP
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar
NCBI chr21:18,511,727...18,513,636
Ensembl chr21:18,511,559...18,515,083
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AMACR
alpha-methylacyl-CoA racemase
disease_progression
ISO
RGD
PMID:18343427
RGD:2315630
NCBI chr 4:33,221,777...33,244,829
Ensembl chr 4:33,225,754...33,244,836
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ANG
angiogenin
ISO
RGD
PMID:19276260
RGD:2325697
NCBI chr29:21,215,985...21,226,927
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
protein:increased expression, altered localization:prostate, cytoplasm
RGD
PMID:11309329
RGD:2315666
NCBI chr29:20,978,878...20,981,393
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AR
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr X:57,380,587...57,553,613
Ensembl chr X:57,380,611...57,546,776
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AREG
amphiregulin
ISO
protein:increased expression:prostate gland
RGD
PMID:14716741
RGD:2292659
NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162
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ATM
ATM serine/threonine kinase
ISO
protein:increased serine phosphorylation:prostate gland
RGD
PMID:16997395
RGD:2293869
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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AURKA
aurora kinase A
ISO
protein:increased expression:prostate gland
RGD
PMID:15754349 PMID:16707419
RGD:2293877 RGD:2293883
NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395
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AURKB
aurora kinase B
ISO
RGD
PMID:16707419
RGD:2293877
NCBI chr16:7,571,255...7,583,034
Ensembl chr16:7,570,538...7,582,959
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BTG2
BTG anti-proliferation factor 2
ISO
protein:decreased expression:prostate gland
RGD
PMID:11470758
RGD:2289070
NCBI chr25:26,032,404...26,036,500
Ensembl chr25:26,034,632...26,036,538
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CARM1
coactivator associated arginine methyltransferase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15221992
RGD:2293206
NCBI chr 6:9,866,715...9,915,655
Ensembl chr 6:9,866,534...9,914,682
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CCND1
cyclin D1
ISO
mRNA, protein:decreased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CCNE1
cyclin E1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:14968434
RGD:2289283
NCBI chr 6:24,879,923...24,888,985
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:18691549 PMID:20932324
RGD:2299085
NCBI chr11:12,612,064...12,617,228
Ensembl chr11:12,612,079...12,617,531
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CREB3L4
cAMP responsive element binding protein 3 like 4
severity
ISO
RGD
PMID:17270658
RGD:13504714
NCBI chr20:9,839,137...9,848,413
Ensembl chr20:9,838,085...9,845,287
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CSF1R
colony stimulating factor 1 receptor
ISO
protein:increased expression:prostate gland
RGD
PMID:12381783
RGD:2293712
NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
ISO
RGD
PMID:19700748
RGD:7257711
NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277
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DNMT1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
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ESR2
estrogen receptor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16220300 PMID:22025007
RGD:8553211
NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
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FGF6
fibroblast growth factor 6
ISO
protein:increased expression:prostate gland
RGD
PMID:2289066
RGD:2301089
NCBI chr11:4,464,159...4,476,592
Ensembl chr11:4,464,171...4,473,916
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FGF8
fibroblast growth factor 8
ISO
RGD
PMID:12208767
RGD:2301097
NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629
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FGFR1
fibroblast growth factor receptor 1
ISO
RGD
PMID:18068632
RGD:2298702
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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FGFR2
fibroblast growth factor receptor 2
ISO
RGD
PMID:14695195
RGD:2301192
NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704
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FLT1
fms related receptor tyrosine kinase 1
ISO
protein:decreased expression:prostate gland
RGD
PMID:10893635
RGD:2301255
NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967
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FZD4
frizzled class receptor 4
ISO
protein:increased expression:prostate gland
RGD
PMID:18068632
RGD:2298702
NCBI chr 1:78,164,243...78,199,296
Ensembl chr 1:78,188,630...78,198,187
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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 chr 1:6,676,897...6,679,936
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HDAC1
histone deacetylase 1
ISO
protein:increased expression:prostate gland
RGD
PMID:15042618
RGD:2306219
NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
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IGF1
insulin like growth factor 1
ISO
protein:increased expression:prostate gland
RGD
PMID:19171036
RGD:2306713
NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
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KRAS
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19117991
RGD:2314913
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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LEF1
lymphoid enhancer binding factor 1
ISO
RGD
PMID:27067790
RGD:11531513
NCBI chr 7:55,974,770...56,096,214
Ensembl chr 7:55,990,621...56,094,110
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LOC103233229
cadherin-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581815
NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541
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LRP1
LDL receptor related protein 1
ISO
protein:increased expression:prostate gland
RGD
PMID:14623925
RGD:1625030
NCBI chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776
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MAP2K4
mitogen-activated protein kinase kinase 4
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125
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MAP2K6
mitogen-activated protein kinase kinase 6
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chr16:52,045,398...52,188,416
Ensembl chr16:52,057,784...52,187,997
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MAP2K7
mitogen-activated protein kinase kinase 7
disease_progression
ISO
protein:increased expression
RGD
PMID:17577251
RGD:2293334
NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:10861747
RGD:10059615
NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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PHB1
prohibitin 1
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:18384941
RGD:2292382
NCBI chr16:69,805,968...69,816,792
Ensembl chr16:69,806,923...69,816,754
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PIM1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23565217
NCBI chr17:34,968,661...34,973,920
Ensembl chr17:34,968,429...34,973,760
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PRSS8
serine protease 8
disease_progression
ISO
mRNA, protein:increased expression:prostate gland
RGD
PMID:12518323
RGD:2292484
NCBI chr 5:27,820,898...27,827,873
Ensembl chr 5:27,817,830...27,824,926
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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 chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:altered localization
RGD
PMID:18468781
RGD:2300123
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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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 chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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RXRA
retinoid X receptor alpha
ISO
protein:decreased expression:prostate
RGD
PMID:15318950
RGD:1643115
NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678
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SLC30A4
solute carrier family 30 member 4
ISO
protein:decreased expression:prostate gland
RGD
PMID:12955079
RGD:2299948
NCBI chr26:37,692,164...37,732,102
Ensembl chr26:37,692,219...37,731,292
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SMAD4
SMAD family member 4
ISO
protein:increased expression:prostate gland
RGD
PMID:15017584
RGD:2300005
NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
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ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:prostate gland
RGD
PMID:18813126
RGD:2315088
NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007
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STK11
serine/threonine kinase 11
ISO
RGD
PMID:18381428
RGD:2291943
NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
RGD
PMID:16940965
RGD:2290433
NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600
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TOP2B
DNA topoisomerase II beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20601956
NCBI chr15:70,266,267...70,332,079
Ensembl chr15:70,266,601...70,332,824
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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 chr15:83,861,489...84,126,675
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FOXP3
forkhead box P3
severity
ISO
DNA:SNP::rs3761548(human)
RGD
PMID:31177386
RGD:38501104
NCBI chr X:46,349,890...46,365,133
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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 chr 1:18,071,011...18,096,660
Ensembl chr 1:18,071,383...18,096,595
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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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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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 chr10:2,926,410...2,963,802
Ensembl chr10:2,926,350...2,963,823
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 PMID:15886521 PMID:16199547 PMID:16550608 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:27607234 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:31692161 PMID:32008151 PMID:32659497 PMID:32756499 PMID:34117267 PMID:35477182 More...
NCBI chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541
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ERCC5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 PMID:15082767 PMID:23370536 PMID:24033266 PMID:24700531 PMID:25714468 PMID:25741868 PMID:26884178 PMID:27982466 PMID:28492532 PMID:28654958 PMID:29130490 PMID:29749609 PMID:30838033 PMID:30919937 PMID:31130284 PMID:32522879 PMID:33219753 More...
NCBI chr 3:81,406,103...81,441,422
Ensembl chr 3:81,405,872...81,436,040
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KLC3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
NCBI chr 6:38,794,013...38,804,294
Ensembl chr 6:38,798,727...38,804,829
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POLH
DNA polymerase eta
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 PMID:18368133 PMID:18703314 PMID:24033266 PMID:24130121 PMID:25256075 PMID:25741868 PMID:27664908 PMID:28492532 PMID:30414346 PMID:31980526 PMID:33558524 More...
NCBI chr17:28,548,454...28,585,232
Ensembl chr17:28,549,623...28,585,206
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TERF2
telomeric repeat binding factor 2
ISO
MouseDO
NCBI chr 5:58,019,422...58,051,819
Ensembl chr 5:58,019,468...58,050,802
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TMEM43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532
NCBI chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648
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XPA
XPA, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum
ClinVar
PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 PMID:2234061 PMID:7577588 PMID:7876263 PMID:8105686 PMID:8541864 PMID:8765158 PMID:8825598 PMID:9536098 PMID:9671271 PMID:10408173 PMID:10447254 PMID:10862089 PMID:12509227 PMID:15214909 PMID:15661657 PMID:16491090 PMID:16792756 PMID:16905156 PMID:17576681 PMID:18567921 PMID:20054342 PMID:20199544 PMID:20534089 PMID:20574439 PMID:21148310 PMID:22081045 PMID:23194742 PMID:24063568 PMID:24135642 PMID:24704021 PMID:24728327 PMID:24757057 PMID:25256075 PMID:25326635 PMID:25525159 PMID:25566891 PMID:25741868 PMID:26659639 PMID:26743599 PMID:26884178 PMID:27413738 PMID:27607234 PMID:27982466 PMID:28492532 PMID:29208038 PMID:30077970 PMID:31478152 PMID:34374989 PMID:35687855 PMID:36893274 More...
NCBI chr12:41,711,872...41,735,024
Ensembl chr12:41,711,943...41,725,698
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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 chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542
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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 chr12:41,711,872...41,735,024
Ensembl chr12:41,711,943...41,725,698
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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 chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542
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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 chr10:2,926,410...2,963,802
Ensembl chr10:2,926,350...2,963,823
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group C
ClinVar
PMID:25741868
NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
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 chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648
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 chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542
G
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar
NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
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 chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
G
KLC3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group D
ClinVar
PMID:25741868
NCBI chr 6:38,794,013...38,804,294
Ensembl chr 6:38,798,727...38,804,829
G
MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII
ClinVar
PMID:25741868 PMID:28492532 PMID:33471991
NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174
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 chr 1:18,071,011...18,096,660
Ensembl chr 1:18,071,383...18,096,595
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 chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541
G
MRTFB
myocardin related transcription factor B
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar
PMID:28492532
NCBI chr 5:13,530,313...13,725,359
Ensembl chr 5:13,609,016...13,720,022
G
PARN
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum, group F
ClinVar
PMID:28492532
NCBI chr 5:13,891,362...14,089,576
Ensembl chr 5:13,891,369...14,089,518
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 chr 3:81,406,103...81,441,422
Ensembl chr 3:81,405,872...81,436,040
G
POLH
DNA polymerase eta
ISO
ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type
OMIM ClinVar
PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:16199547 PMID:17344931 PMID:17576681 PMID:18368133 PMID:18703314 PMID:20577208 PMID:23651273 PMID:24033266 PMID:24130121 PMID:25256075 PMID:25741868 PMID:26884178 PMID:27004399 PMID:27664908 PMID:27982466 PMID:28202063 PMID:28492532 PMID:28688171 PMID:30414346 PMID:32239545 PMID:32999650 PMID:33558524 PMID:35111200 PMID:36308448 PMID:38212351 More...
NCBI chr17:28,548,454...28,585,232
Ensembl chr17:28,549,623...28,585,206
G
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
OMIM:610965
MouseDO
NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
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 chr 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541
G
POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: XFE progeroid syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292
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