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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AQP3
aquaporin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082
G
CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:11488071
RGD:8662423
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
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CDKN2A
cyclin dependent kinase inhibitor 2A
severity
ISO
DNA:loss of heterozygosity protein:decreased expression:tongue DNA:point mutations, missense mutation:exon
RGD
PMID:16527513 PMID:17091472 PMID:18804414
RGD:11252155 RGD:1578522 RGD:1600814
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
DNA:loss of heterozygosity
RGD
PMID:16527513
RGD:1578522
NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
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CRYAB
crystallin alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
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HRAS
HRas proto-oncogene, GTPase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20043093
RGD:12738401
NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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HSPB1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
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IGF1
insulin like growth factor 1
ISO
protein:decreased expression:blood:
RGD
PMID:8493451
RGD:8548876
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002
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KDSR
3-ketodihydrosphingosine reductase
ISO
protein:increased expression:tongue:
RGD
PMID:12167434
RGD:8547871
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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LOC110255312
keratin, type I cytoskeletal 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396
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MIR222
microRNA mir-222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19487542
NCBI chr X:40,571,808...40,571,887
Ensembl chr X:40,571,808...40,571,887
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OGG1
8-oxoguanine DNA glycosylase
ISO
protein:decreased expression:saliva
RGD
PMID:19789535
RGD:8657148
NCBI chr13:66,038,669...66,045,478
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:22561872
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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SOD2
superoxide dismutase 2
ISO
mRNA,protein:increased expression:tongue: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20618948
RGD:8547519
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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TLR5
toll like receptor 5
ISO
protein:increased expression:tongue:
RGD
PMID:23287987
RGD:7814374
NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
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TNF
tumor necrosis factor
ISO
mRNA,protein:increased expression:tongue: protein:increased expression:saliva
RGD
PMID:14747060 PMID:21397550
RGD:7401243 RGD:7401244
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TP53
tumor protein p53
ISO
protein:increased expression:tongue: CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
RGD CTD
PMID:9485768 PMID:12167434 PMID:16543248 PMID:21903770
RGD:8547850 RGD:8547871 RGD:8547872
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
G
TYMS
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16280240
NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578
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VEGFA
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:15289890
RGD:7488946
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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VEGFC
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:15289890
RGD:7488946
NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,039,311...39,132,936
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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 chr 3:78,435,154...78,726,313
Ensembl chr 3:78,268,922...78,856,893
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DDX3X
DEAD-box helicase 3 X-linked
ameliorates
ISO
RGD
PMID:25918862
RGD:151356506
NCBI chr X:36,988,031...37,005,496
Ensembl chr X:36,988,031...37,018,202
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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 8:879,151...894,968
Ensembl chr 8:879,159...894,964
G
MIR155
microRNA mir-155
ISO
miRNA:decreased expression:tongue
RGD
PMID:30617160
RGD:21081517
NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
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MIR491
microRNA mir-491
disease_progression
ISO
mRNA:decreased expression:tongue (human)
RGD
PMID:25749387
RGD:152995520
NCBI chr 1:202,227,251...202,227,326
Ensembl chr 1:202,227,236...202,227,336
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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 chr16:24,109,934...24,250,019
Ensembl chr16:24,109,939...24,311,132
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 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794
G
ADA
adenosine deaminase
ISO
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
G
BRINP3
BMP/retinoic acid inducible neural specific 3
ISO
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr10:2,963,237...3,367,629
Ensembl chr10:2,963,527...3,367,623
G
CAV2
caveolin 2
ISO
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277
G
CCND1
cyclin D1
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
G
CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:12162767
RGD:8662376
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
G
EGFR
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
G
ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038
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ERBB4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565
G
FANCB
FA complementation group B
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr X:11,386,360...11,408,958
Ensembl chr X:11,384,912...11,409,057
G
FANCC
FA complementation group C
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
G
FANCF
FA complementation group F
ISO
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856
G
FANCG
FA complementation group G
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974
G
FANCI
FA complementation group I
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
G
FANCL
FA complementation group L
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942
G
FANCM
FA complementation group M
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685
G
FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
G
FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:51,836,780...51,844,531
Ensembl chr 6:51,837,719...51,844,529
G
FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173
G
FOSL2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068
G
FUBP1
far upstream element binding protein 1
exacerbates
ISO
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714
G
GJA1
gap junction protein alpha 1
ISO
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
G
HGF
hepatocyte growth factor
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
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IFNG
interferon gamma
disease_progression
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL10
interleukin 10
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
G
IL1RL1
interleukin 1 receptor like 1
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
G
IL2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL33
interleukin 33
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
G
JAK3
Janus kinase 3
disease_progression
ISO
RGD
PMID:26860129
RGD:11531126
NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
G
JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
G
JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002
G
JUND
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 2:59,530,991...59,532,846
G
KDR
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
G
KDSR
3-ketodihydrosphingosine reductase
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
G
LOC100622859
baculoviral IAP repeat-containing protein 2
exacerbates
ISO
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854
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MAP2K4
mitogen-activated protein kinase kinase 4
ISO
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MTUS1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:22153618
RGD:25330347
NCBI chr17:5,331,668...5,507,212
Ensembl chr17:5,329,750...5,507,119
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SLC1A5
solute carrier family 1 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 6:52,647,432...52,661,464
Ensembl chr 6:52,647,438...52,661,459
G
SLC3A2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 2:8,892,071...8,919,070
Ensembl chr 2:8,892,089...8,919,072
G
SLC7A11
solute carrier family 7 member 11
severity
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 8:88,608,083...88,690,589
Ensembl chr 8:88,608,174...88,687,250
G
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
G
SOX2
SRY-box transcription factor 2
disease_progression
ISO
RGD
PMID:21689966
RGD:8661665
NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435
G
TP53
tumor protein p53
ISO
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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