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.
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Ada
adenosine deaminase
ISO
protein:decreased activity:saliva:
RGD
PMID:16120121
RGD:152995281
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
susceptibility
ISO
DNA:SNP: :rs578776(human)
RGD
PMID:24505444
RGD:151347542
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:17461521
RGD:14700965
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:16721740
RGD:14700978
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:23057317 PMID:17461521 PMID:17418613
RGD:14700938 , RGD:14700965 , RGD:14700968
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
ISO
RGD
PMID:22594240 PMID:14735473
RGD:14700997 , RGD:14701001
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Sod3
superoxide dismutase 3
ISO
RGD
PMID:23057317
RGD:14700938
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Il10
interleukin 10
ISO
RGD
PMID:26723902
RGD:14975265
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Nuf2
NUF2 component of NDC80 kinetochore complex
disease_progression
ISO
RGD
PMID:27499128
RGD:28867233
NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
severity
ISO
DNA:mutations
RGD
PMID:16676365
RGD:126925209
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Ada
adenosine deaminase
disease_progression
ISO
RGD
PMID:27221867
RGD:152995268
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Agap2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
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Angpt1
angiopoietin 1
ISO
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Angpt2
angiopoietin 2
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Arid2
AT-rich interaction domain 2
disease_progression
ISO
RGD
PMID:31918270
RGD:150340710
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Arpc1b
actin related protein 2/3 complex, subunit 1B
severity
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26138391
RGD:11046268
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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Atm
ATM serine/threonine kinase
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356 PMID:18288488
RGD:150340604 , RGD:150340709
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp6v1c1
ATPase H+ transporting V1 subunit C1
ISO
RGD
PMID:26984774
RGD:14700648
NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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Axin1
axin 1
disease_progression
ISO
protein:decreased expression:oral epithelium (human) mRNA:increased expression:oral epithelium (human)
RGD
PMID:17143481 PMID:21393552
RGD:150530474 , RGD:150530486
NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615
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Axin2
axin 2
susceptibility ameliorates disease_progression
ISO
DNA:SNP:intron: C>T (rs3923087)(human)
RGD
PMID:21393552 PMID:33046030 PMID:33046030
RGD:150530486 , RGD:151356656 , RGD:151356656
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO
protein:increased expression:saliva protein:decreased expression:saliva
RGD
PMID:29199150 PMID:33564003
RGD:153350131 , RGD:153350144
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Barhl2
BarH-like homeobox 2
ISO
protein:decreased expression:mouth mucosa
RGD
PMID:27542258
RGD:14390167
NCBI chr14:3,340,465...3,345,362
Ensembl chr14:3,340,465...3,345,353
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Bcl2l1
Bcl2-like 1
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bhlhe41
basic helix-loop-helix family, member e41
treatment
ISO
Human cells in mouse model
RGD
PMID:27602964
RGD:151665310
NCBI chr 4:178,834,264...178,838,618
Ensembl chr 4:178,834,271...178,838,468
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Birc2
baculoviral IAP repeat-containing 2
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
disease_progression ameliorates
ISO
protein:increased expression:oral cavity (human) mRNA:increased expression:oral cavity (human) protein:decreased expression:oral cavity (human)
RGD
PMID:23852810 PMID:20967871 PMID:29286141 PMID:21952624
RGD:152998980 , RGD:152999012 , RGD:152999009 , RGD:152998987
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Brinp2
BMP/retinoic acid inducible neural specific 2
ISO
DNA:amplication:oral epithelium
RGD
PMID:21334929
RGD:14398483
NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810
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Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:24706327
RGD:14398491
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Btk
Bruton tyrosine kinase
treatment
ISO
mRNA:increased expression:oral epithelium (human)
RGD
PMID:33640903
RGD:151347851
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Calr
calreticulin
exacerbates
ISO
protein:increased expression:oral epithelium (human) protein:increased expression:mouth (human)
RGD
PMID:23375593 PMID:28599487
RGD:150521688 , RGD:150520158
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:30205384
RGD:18337270
NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
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Car12
carbonic anhydrase 12
disease_progression
ISO
RGD
PMID:22172588
RGD:153352330
NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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Cbx2
chromobox 2
disease_progression
ISO
RGD
PMID:24885002
RGD:9586732
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Ccl2
C-C motif chemokine ligand 2
susceptibility disease_progression
ISO IEP
DNA:polymorphism,haplotype::2518A>G(human) associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:21883707 PMID:33411841
RGD:8661694 , RGD:152998999
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:21883707
RGD:8661694
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cdc73
cell division cycle 73
ISO
mRNA:altered expression: tongue, oral cavity (human)
RGD
PMID:24257751
RGD:150537040
NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Cdh1
cadherin 1
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
susceptibility no_association disease_progression
ISO
DNA:polymorphism:exon:149A>G(human) DNA:polymorphism: :98C>A(human)
RGD
PMID:10873097 PMID:18251939 PMID:15817070 PMID:10873097
RGD:8662371 , RGD:8662395 , RGD:8662374 , RGD:8662371
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cers1
ceramide synthase 1
exacerbates
ISO
RGD
PMID:33753723
RGD:156431057
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Chaf1b
chromatin assembly factor 1 subunit B
disease_progression
ISO
protein:increased expression:mouth mucosa:
RGD
PMID:22882088
RGD:9587477
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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Clptm1l
CLPTM1-like
susceptibility
ISO
DNA:SNP: :rs402710(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Ctnnd1
catenin delta 1
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:22660220
RGD:14700952
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:exon: (rs2296241) (human)
RGD
PMID:22612324
RGD:151665337
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:22954124
RGD:14700880
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Daxx
death-domain associated protein
ameliorates
ISO
human cell line in a mouse model
RGD
PMID:26205068
RGD:152025200
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Ddr1
discoidin domain receptor tyrosine kinase 1
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:31253192
RGD:151347620
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Ddr2
discoidin domain receptor tyrosine kinase 2
severity
ISO
RGD
PMID:29945346
RGD:150429700
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
RGD
PMID:24625449 PMID:24625449
RGD:9589120 , RGD:9589120
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Dock6
dedicator of cytokinesis 6
disease_progression
ISO
RGD
PMID:34742001
RGD:155791563
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Efnb2
ephrin B2
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
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Egfr
epidermal growth factor receptor
ISO
RGD
PMID:11673832
RGD:126781761
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:11673832
RGD:126781761
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:14595263
RGD:126781770
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
susceptibility
ISO
associated with oral mucosa leukoplakia DNA:SNPs, haplotypes: :multiple
RGD
PMID:24122997 PMID:21697275 PMID:26807327
RGD:126779588 , RGD:126781699 , RGD:126779606
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fat1
FAT atypical cadherin 1
onset
ISO
protein:increased expression:tongue (mouse) DNA:mutations:multiple
RGD
PMID:30624777 PMID:28435450
RGD:151347668 , RGD:151347687
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgfr3
fibroblast growth factor receptor 3
ISO
associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)
RGD
PMID:30563911
RGD:38500239
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
severity
ISO
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:20127014
RGD:150520164
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA:decreased expression:oral epithelium (human)
RGD
PMID:32048621
RGD:149735374
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IEP
RGD
PMID:27375172
RGD:13792673
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gpx1
glutathione peroxidase 1
exacerbates
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx4
glutathione peroxidase 4
disease_progression
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Gsk3b
glycogen synthase kinase 3 beta
susceptibility
ISO
DNA:SNP:intron: (rs9879992) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: : (human)
RGD
PMID:22213390 PMID:14662415
RGD:12792245 , RGD:14700962
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
ISO
mRNA,protein:decreased expression:mucosa:
RGD
PMID:16982972
RGD:10755432
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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H2ax
H2A.X variant histone
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356
RGD:150340604
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
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Hes1
hes family bHLH transcription factor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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Hp
haptoglobin
ISO
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il10
interleukin 10
susceptibility
ISO
DNA:SNP:promoter:-592A>C (human)
RGD
PMID:28157558
RGD:14975130
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:19065664
RGD:8549498
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il1b
interleukin 1 beta
disease_progression
IEP
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
RGD
PMID:10389944
RGD:8662949
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il6
interleukin 6
disease_progression
ISO
RGD
PMID:24625449
RGD:9589120
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)
RGD
PMID:28155253
RGD:151347666
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Kmt2d
lysine methyltransferase 2D
severity
ISO
RGD
PMID:31660637
RGD:150521713
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Mcph1
microcephalin 1
ISO
mRNA:protein:decreased expression:oral cavity, tissue (human)
RGD
PMID:23472065
RGD:9589036
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression, altered expression:mouth mucosa:
RGD
PMID:20662906
RGD:8548617
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:30194167 PMID:28413645 PMID:29909906
RGD:21079420 , RGD:24922225 , RGD:21079468
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir187
microRNA 187
ISO
RNA:increased expression:plasma
RGD
PMID:27542258
RGD:14390167
NCBI chr18:15,731,194...15,731,297
Ensembl chr18:15,731,194...15,731,297
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Mir20a
microRNA 20a
ISO
RGD
PMID:26781875
RGD:26884343
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
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Mir221
microRNA 221
exacerbates
ISO
RGD
PMID:21226887
RGD:151708999
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Mir222
microRNA 222
disease_progression exacerbates
ISO
RGD
PMID:31841247 PMID:21226887
RGD:151708741 , RGD:151708999
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
G
Mir31
microRNA 31
treatment
ISO
RGD
PMID:20233326
RGD:153297767
NCBI chr 5:103,599,038...103,599,143
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:missense mutation:cds:677C>T (human)
RGD
PMID:16365753
RGD:10449416
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Naip6
NLR family, apoptosis inhibitory protein 6
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
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Notch1
notch receptor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520
RGD:8547730
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Plcg1
phospholipase C, gamma 1
disease_progression ameliorates
ISO
protein:decreased expression:oral cavity (human)
RGD
PMID:26464646 PMID:25085076
RGD:11526681 , RGD:151356936
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Prdx2
peroxiredoxin 2
ISO
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Pten
phosphatase and tensin homolog
disease_progression
ISO
protein:increased expression:oral epithelium (human)
RGD
PMID:33109573
RGD:127285606
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptgis
prostaglandin I2 synthase
ISO
mRNA,protein:decreased expression:mouth mucosa (human)
RGD
PMID:30532780
RGD:151347832
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
G
Ptpn13
protein tyrosine phosphatase, non-receptor type 13
treatment
ISO
RGD
PMID:21176871
RGD:152600900
NCBI chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563
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Rad21
RAD21 cohesin complex component
exacerbates
ISO
mRNA:decreased expression:oral cavity (human)
RGD
PMID:16416296
RGD:150520028
NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Serpine1
serpin family E member 1
severity disease_progression
ISO
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520 PMID:24999729
RGD:8547730 , RGD:13208508
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Skp2
S-phase kinase associated protein 2
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:24743017
RGD:151665336
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
G
Slc7a5
solute carrier family 7 member 5
severity
ISO
RGD
PMID:23801167
RGD:151361213
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNPs: :rs2736100,rs2736098(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
protein:decreased expression:oral epithelium (human)
RGD
PMID:24122999
RGD:150429611
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tnf
tumor necrosis factor
disease_progression
IEP
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tp53
tumor protein p53
ISO
DNA:missense mutations: :multiple protein:increased expression:mouth (human)
RGD
PMID:27283772 PMID:34111459
RGD:14995497 , RGD:153344573
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ttr
transthyretin
ISO
protein:increased expression:saliva (human)
RGD
PMID:23784731
RGD:151664609
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Wnt11
Wnt family member 11
susceptibility
ISO
DNA:SNP:exon: A>G (rs1533767) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294
G
Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28668836
RGD:24922215
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:25885343
RGD:25330345
NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
G
Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Gon4l
gon-4 like
ISS
MouseDO
NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
G
Kdr
kinase insert domain receptor
disease_progression
ISO
RGD
PMID:26498950
RGD:126907998
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Ptgs1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
RGD
PMID:26498950
RGD:126907998
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
G
Rad52
RAD52 homolog, DNA repair protein
sexual_dimorphism
ISO
DNA:SNP:intron: (rs3748522) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
G
Xrcc4
X-ray repair cross complementing 4
sexual_dimorphism
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
G
Ddx3x
DEAD-box helicase 3, X-linked
ameliorates
ISO
RGD
PMID:25918862
RGD:151356506
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Fgfr3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells
RGD
PMID:30061236
RGD:36947883
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Mir155
microRNA 155
ISO
miRNA:decreased expression:tongue
RGD
PMID:30617160
RGD:21081517
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Rictor
RPTOR independent companion of MTOR, complex 2
disease_progression
ISO
protein:increased expression:tongue (human)
RGD
PMID:25749387
RGD:152995520
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
G
Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human)
RGD
PMID:20204288
RGD:27372889
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Ada
adenosine deaminase
ISO
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Adipoq
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Bcl2
BCL2, apoptosis regulator
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
G
Brinp3
BMP/retinoic acid inducible neural specific 3
ISO
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
G
Cav2
caveolin 2
ISO
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
G
Ccnd1
cyclin D1
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:12162767
RGD:8662376
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Egfr
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
G
Erbb4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
G
Fancb
FA complementation group B
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
G
Fancc
FA complementation group C
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Fancf
FA complementation group F
ISO
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
G
Fancg
FA complementation group G
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fanci
FA complementation group I
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Fancl
FA complementation group L
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
G
Fancm
FA complementation group M
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
G
Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
G
Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
G
Fubp1
far upstream element binding protein 1
exacerbates
ISO
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
G
Gja1
gap junction protein, alpha 1
IEP
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
G
Hgf
hepatocyte growth factor
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Ifng
interferon gamma
disease_progression
IEP
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
disease_progression
IEP
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il1rl1
interleukin 1 receptor-like 1
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il2
interleukin 2
IEP
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il33
interleukin 33
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Jak3
Janus kinase 3
disease_progression
IEP
RGD
PMID:26860129
RGD:11531126
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
G
Jund
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
G
Kdr
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Map2k4
mitogen activated protein kinase kinase 4
ISO
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:22153618
RGD:25330347
NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
G
Slc1a5
solute carrier family 1 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
G
Slc3a2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
G
Slc7a11
solute carrier family 7 member 11
severity
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
G
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
G
Sox2
SRY-box transcription factor 2
disease_progression
ISO
RGD
PMID:21689966
RGD:8661665
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
G
Tp53
tumor protein p53
IEP
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all