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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
G
AQP3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
G
BCL2
BCL2 apoptosis regulator
ISO
protein:increased expression:tongue:
RGD
PMID:12167434
RGD:8547871
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
G
CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:11488071
RGD:8662423
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
G
CDKN2A
cyclin dependent kinase inhibitor 2A
severity
ISO
protein:decreased expression:tongue DNA:point mutations, missense mutation:exon DNA:loss of heterozygosity
RGD
PMID:16527513 PMID:17091472 PMID:18804414
RGD:11252155 RGD:1578522 RGD:1600814
NCBI chr 9:21,803,862...21,831,322
G
CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
DNA:loss of heterozygosity
RGD
PMID:16527513
RGD:1578522
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
G
CRYAB
crystallin alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
G
FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
G
HRAS
HRas proto-oncogene, GTPase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20043093
RGD:12738401
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
G
HSPB1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19840781
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
G
IGF1
insulin like growth factor 1
ISO
protein:decreased expression:blood:
RGD
PMID:8493451
RGD:8548876
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue epithelium
RGD
PMID:14674993
RGD:2293780
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
G
LOC100975309
keratin, type I cytoskeletal 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
G
OGG1
8-oxoguanine DNA glycosylase
ISO
protein:decreased expression:saliva
RGD
PMID:19789535
RGD:8657148
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:22561872
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
G
SOD2
superoxide dismutase 2
ISO
mRNA,protein:increased expression:tongue: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20618948
RGD:8547519
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
G
STAT3
signal transducer and activator of transcription 3
disease_progression
ISO
RGD
PMID:17169602 PMID:22302289
RGD:8694287 RGD:8694311
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
G
TLR5
toll like receptor 5
ISO
protein:increased expression:tongue:
RGD
PMID:23287987
RGD:7814374
NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343
G
TNF
tumor necrosis factor
ISO
protein:increased expression:saliva mRNA,protein:increased expression:tongue:
RGD
PMID:14747060 PMID:21397550
RGD:7401243 RGD:7401244
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:cds: protein:increased expression:tongue:
CTD RGD
PMID:9485768 PMID:12167434 PMID:16543248 PMID:21903770
RGD:8547850 RGD:8547871 RGD:8547872
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
G
TYMS
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16280240
NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
G
VEGFA
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:15289890
RGD:7488946
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
G
VEGFC
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:15289890
RGD:7488946
NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
G
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 chr2A:63,180,279...63,658,804
Ensembl chr2A:64,325,379...64,785,256
G
DDX3X
DEAD-box helicase 3 X-linked
ameliorates
ISO
RGD
PMID:25918862
RGD:151356506
NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837
G
FGFR3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells
RGD
PMID:30061236
RGD:36947883
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
G
RICTOR
RPTOR independent companion of MTOR complex 2
disease_progression
ISO
protein:increased expression:tongue (human)
RGD
PMID:25749387
RGD:152995520
NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830
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 chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
G
ADA
adenosine deaminase
ISO
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
G
ADIPOQ
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
G
BCL2
BCL2 apoptosis regulator
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
G
BIRC2
baculoviral IAP repeat containing 2
exacerbates
ISO
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
G
BRINP3
BMP/retinoic acid inducible neural specific 3
ISO
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015
G
CAV2
caveolin 2
ISO
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415
G
CCND1
cyclin D1
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr11:64,737,006...64,750,353
G
CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:12162767
RGD:8662376
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
G
CXCL8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
EGFR
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
G
ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
G
ERBB4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
G
FANCB
FA complementation group B
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817
G
FANCC
FA complementation group C
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
G
FANCF
FA complementation group F
ISO
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176
G
FANCG
FA complementation group G
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
G
FANCI
FA complementation group I
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
G
FANCL
FA complementation group L
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
G
FANCM
FA complementation group M
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
G
FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
G
FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:42,416,781...42,424,003
Ensembl chr19:51,013,350...51,020,570
G
FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
G
FOSL2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397
G
FUBP1
far upstream element binding protein 1
exacerbates
ISO
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 1:77,162,675...77,198,486
G
GJA1
gap junction protein alpha 1
ISO
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr 6:119,213,513...119,227,617
G
HGF
hepatocyte growth factor
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
G
IFNG
interferon gamma
disease_progression
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IL10
interleukin 10
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
IL2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
G
IL33
interleukin 33
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
G
JAK3
Janus kinase 3
disease_progression
ISO
RGD
PMID:26860129
RGD:11531126
NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
G
JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:58,042,794...58,045,536
G
JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
G
JUND
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:17,755,331...17,757,164
G
KDR
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
G
MAP2K4
mitogen-activated protein kinase kinase 4
ISO
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
G
MET
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
G
MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
G
MTUS1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:22153618
RGD:25330347
NCBI chr 8:16,863,307...17,020,684
G
SLC1A5
solute carrier family 1 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
G
SLC3A2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579
G
SLC7A11
solute carrier family 7 member 11
severity
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 4:130,529,677...130,601,396
Ensembl chr 4:141,849,343...141,959,849
G
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr16:68,512,407...68,552,763
G
SOX2
SRY-box transcription factor 2
disease_progression
ISO
RGD
PMID:21689966
RGD:8661665
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
G
TP53
tumor protein p53
ISO
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all