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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DDX3X
DEAD-box helicase 3 X-linked
ameliorates
ISO
RGD
PMID:25918862
RGD:151356506
NCBI chr X:35,759,367...35,789,759
Ensembl chr X:35,759,416...35,789,774
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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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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MIR155
microRNA mir-155
ISO
miRNA:decreased expression:tongue
RGD
PMID:30617160
RGD:21081517
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
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MIR491
microRNA mir-491
disease_progression
ISO
mRNA:decreased expression:tongue (human)
RGD
PMID:25749387
RGD:152995520
NCBI chr11:40,300,967...40,301,020
Ensembl chr11:40,300,951...40,301,034
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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 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566
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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 chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052
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ADA
adenosine deaminase
ISO
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
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ADIPOQ
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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BCL2
BCL2 apoptosis regulator
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BIRC2
baculoviral IAP repeat containing 2
exacerbates
ISO
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
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BRINP3
BMP/retinoic acid inducible neural specific 3
ISO
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr38:8,181,227...8,558,518
Ensembl chr38:8,205,916...8,558,482
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CAV2
caveolin 2
ISO
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469
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CCND1
cyclin D1
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
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CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:12162767
RGD:8662376
NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
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CXCL8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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EGFR
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264
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ERBB4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
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FANCB
FA complementation group B
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr X:10,690,826...11,140,838
Ensembl chr X:11,095,200...11,141,029
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FANCC
FA complementation group C
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
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FANCF
FA complementation group F
ISO
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618
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FANCG
FA complementation group G
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
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FANCI
FA complementation group I
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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FANCL
FA complementation group L
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482
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FANCM
FA complementation group M
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
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FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:110,088,686...110,092,818
Ensembl chr 1:110,087,036...110,092,818
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FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
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FOSL2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772
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FUBP1
far upstream element binding protein 1
exacerbates
ISO
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 6:68,923,215...68,963,766
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GJA1
gap junction protein alpha 1
ISO
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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HGF
hepatocyte growth factor
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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IFNG
interferon gamma
disease_progression
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL10
interleukin 10
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL1RL1
interleukin 1 receptor like 1
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
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IL2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL33
interleukin 33
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
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JAK3
Janus kinase 3
disease_progression
ISO
RGD
PMID:26860129
RGD:11531126
NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 5:50,966,698...50,968,939
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442
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JUND
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr20:44,737,021...44,738,932
Ensembl chr20:44,736,832...44,763,020
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KDR
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
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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 chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MTUS1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:22153618
RGD:25330347
NCBI chr16:40,955,619...41,118,601
Ensembl chr16:40,957,574...41,068,967
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SLC1A5
solute carrier family 1 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 1:109,150,205...109,161,375
Ensembl chr 1:109,150,205...109,161,141
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SLC3A2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021
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SLC7A11
solute carrier family 7 member 11
severity
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr19:4,289,792...4,379,060
Ensembl chr19:4,289,850...4,389,048
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SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
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SOX2
SRY-box transcription factor 2
disease_progression
ISO
RGD
PMID:21689966
RGD:8661665
NCBI chr34:14,853,000...14,855,153
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TP53
tumor protein p53
ISO
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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