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.
G
Ager
advanced glycosylation end product-specific receptor
treatment
ISO
RGD
PMID:17374970
RGD:1625338
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Aqp3
aquaporin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183
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Bcl2
B cell leukemia/lymphoma 2
ISO
protein:increased expression:tongue:
RGD
PMID:12167434
RGD:8547871
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Cdkn1a
cyclin-dependent kinase inhibitor 1A (P21)
disease_progression
ISO
RGD
PMID:11488071
RGD:8662423
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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Cdkn2a
cyclin dependent kinase inhibitor 2A
severity
ISO
DNA:point mutations, missense mutation:exon DNA:loss of heterozygosity protein:decreased expression:tongue
RGD
PMID:17091472 PMID:16527513 PMID:18804414
RGD:1600814 , RGD:1578522 , RGD:11252155
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
DNA:loss of heterozygosity
RGD
PMID:16527513
RGD:1578522
NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
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Cryab
crystallin, alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936
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Fos
FBJ osteosarcoma oncogene
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
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Hras
Harvey rat sarcoma virus oncogene
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20043093 PMID:20043093
RGD:12738401
NCBI chr 7:140,769,847...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Hspb1
heat shock protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:blood:
RGD
PMID:8493451
RGD:8548876
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Junb
jun B proto-oncogene
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347
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Krt14
keratin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374
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Mir222
microRNA 222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19487542
NCBI chr X:19,013,132...19,013,210
Ensembl chr X:19,013,132...19,013,210
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Mt1
metallothionein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
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Ogg1
8-oxoguanine DNA-glycosylase 1
ISO
protein:decreased expression:saliva
RGD
PMID:19789535
RGD:8657148
NCBI chr 6:113,303,871...113,311,838
Ensembl chr 6:113,303,933...113,312,029
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:22561872
NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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Sod2
superoxide dismutase 2, mitochondrial
ISO
mRNA,protein:increased expression:tongue: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20618948 PMID:20618948
RGD:8547519
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
RGD
PMID:17169602 PMID:22302289
RGD:8694287 , RGD:8694311
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Terc
telomerase RNA component
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16051514
NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149
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Tlr5
toll-like receptor 5
ISO
protein:increased expression:tongue:
RGD
PMID:23287987
RGD:7814374
NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
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Tnf
tumor necrosis factor
IEP ISO
mRNA,protein:increased expression:tongue: protein:increased expression:saliva
RGD
PMID:14747060 PMID:21397550
RGD:7401243 , RGD:7401244
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Trp53
transformation related protein 53
ISO EXP
DNA:mutations:cds: protein:increased expression:tongue: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16543248 PMID:21903770 PMID:12167434 PMID:9485768
RGD:8547850 , RGD:8547871 , RGD:8547872
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tyms
thymidylate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16280240
NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:15289890
RGD:7488946
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vegfc
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:15289890
RGD:7488946
NCBI chr 8:54,530,567...54,639,489
Ensembl chr 8:54,530,641...54,640,131
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Wdpcp
WD repeat containing planar cell polarity effector
ISO
ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 More...
NCBI chr11:21,521,969...21,848,686
Ensembl chr11:21,522,235...21,848,989
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Ddx3x
DEAD box helicase 3, X-linked
ameliorates
IEP
RGD
PMID:25918862
RGD:151356506
NCBI chr X:13,147,261...13,160,222
Ensembl chr X:13,147,209...13,160,291
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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 chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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Mir155
microRNA 155
ISO
miRNA:decreased expression:tongue
RGD
PMID:30617160
RGD:21081517
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir491
microRNA 491
disease_progression
ISO
mRNA:decreased expression:tongue (human)
RGD
PMID:25749387
RGD:152995520
NCBI chr 4:88,040,277...88,040,362
Ensembl chr 4:88,040,277...88,040,362
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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 chr15:6,737,827...6,829,882
Ensembl chr15:6,737,860...6,829,882
G
Bub1b
BUB1B, mitotic checkpoint serine/threonine kinase
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 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072
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Ada
adenosine deaminase
ISO
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr 2:163,568,491...163,592,161
Ensembl chr 2:163,568,504...163,592,159
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Adipoq
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Bcl2
B cell leukemia/lymphoma 2
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065
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Brinp3
bone morphogenetic protein/retinoic acid inducible neural specific 3
ISO
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210
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Cav2
caveolin 2
ISO
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114
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Ccnd1
cyclin D1
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A (P21)
disease_progression
ISO
RGD
PMID:12162767
RGD:8662376
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
G
Cxcl15
chemokine (C-X-C motif) ligand 15
ISO
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
G
Egfr
epidermal growth factor receptor
treatment
IMP
RGD
PMID:19380367
RGD:8551769
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
G
Erbb4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
G
Fancb
Fanconi anemia, complementation group B
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr X:163,763,459...163,780,268
Ensembl chr X:163,763,588...163,780,268
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Fancc
Fanconi anemia, complementation group C
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
G
Fancf
Fanconi anemia, complementation group F
ISO
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015
G
Fancg
Fanconi anemia, complementation group G
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
G
Fanci
Fanconi anemia, complementation group I
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
G
Fancl
Fanconi anemia, complementation group L
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876
G
Fancm
Fanconi anemia, complementation group M
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832
G
Fos
FBJ osteosarcoma oncogene
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
G
Fosb
FBJ osteosarcoma oncogene B
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 7:19,036,621...19,043,970
Ensembl chr 7:19,036,621...19,043,976
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Fosl1
fos-like antigen 1
ISO
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974
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Fosl2
fos-like antigen 2
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186
G
Fubp1
far upstream element (FUSE) binding protein 1
exacerbates
ISO
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463
G
Gja1
gap junction protein, alpha 1
ISO
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
G
Hgf
hepatocyte growth factor
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
G
Ifng
interferon gamma
disease_progression
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il1rl1
interleukin 1 receptor-like 1
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 1:40,444,025...40,504,578
Ensembl chr 1:40,468,730...40,504,575
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Il2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il33
interleukin 33
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
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Jak3
Janus kinase 3
disease_progression
ISO
RGD
PMID:26860129
RGD:11531126
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Jun
jun proto-oncogene
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459
G
Junb
jun B proto-oncogene
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347
G
Jund
jun D proto-oncogene
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265
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Kdr
kinase insert domain protein receptor
treatment
IMP
RGD
PMID:19380367
RGD:8551769
NCBI chr 5:76,093,487...76,139,885
Ensembl chr 5:76,093,487...76,139,118
G
Map2k4
mitogen-activated protein kinase kinase 4
ISO
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123
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Met
met proto-oncogene
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mtus1
mitochondrial tumor suppressor 1
disease_progression
ISO
RGD
PMID:22153618
RGD:25330347
NCBI chr 8:41,443,949...41,587,347
Ensembl chr 8:41,443,951...41,586,763
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Slc1a5
solute carrier family 1 (neutral amino acid transporter), member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 7:16,515,259...16,532,199
Ensembl chr 7:16,515,265...16,532,199
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Slc3a2
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr19:8,684,246...8,700,733
Ensembl chr19:8,684,246...8,700,733
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Slc7a11
solute carrier family 7 (cationic amino acid transporter, y+ system), member 11
severity
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 3:50,319,385...50,403,947
Ensembl chr 3:49,846,975...50,398,063
G
Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Sox2
SRY (sex determining region Y)-box 2
disease_progression
ISO
RGD
PMID:21689966
RGD:8661665
NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610
G
Trp53
transformation related protein 53
ISO
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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