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.
Term: mature T-cell and NK-cell lymphoma
Accession: DOID:0050743
browse the term
Definition: A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO)
Synonyms: exact_synonym: NK-T cell lymphoma; mature T-cell and natural killer cell lymphoma
G
H19
H19 imprinted maternally expressed transcript
disease_progression
ISO
DNA:SNPs:intron: (rs2839698) (human)
RGD
PMID:34077009
RGD:243048423
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
G
Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma
ClinVar
PMID:19797729 PMID:27210295 PMID:27276561 PMID:28337768 PMID:28492532 PMID:32518946 More...
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11594583
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Clu
clusterin
disease_progression
ISO
RGD
PMID:23702390
RGD:8923490
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis, dermis (human)
RGD
PMID:24127318
RGD:8695934
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*03 (human)
RGD
PMID:15761416
RGD:7483574
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Sod2
superoxide dismutase 2
ISO
protein:increased expression:skin:
RGD
PMID:20833513
RGD:8547521
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Abcb1a
ATP binding cassette subfamily B member 1A
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Cd274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
G
Fas
Fas cell surface death receptor
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
G
Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased expression:nasal cavity (human)
RGD
PMID:17225522
RGD:153298933
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
G
Cd1d1
CD1d1 molecule
ISO
RGD
PMID:27069116
RGD:11534789
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
G
Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28659334
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
G
Rc3h1
ring finger and CCCH-type domains 1
ISS
MouseDO
NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
G
Ccl20
C-C motif chemokine ligand 20
disease_progression
ISO
mRNA, protein:increased expression:skin, serum
RGD
PMID:22048239
RGD:7483601
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccl26
C-C motif chemokine ligand 26
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:20505746
RGD:11087556
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
G
Ccr6
C-C motif chemokine receptor 6
ISO
mRNA, protein:increased expression:skin
RGD
PMID:22048239
RGD:7483601
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:26258847
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletion (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26192916 PMID:20118908
RGD:8552306
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion (human)
RGD
PMID:20118908
RGD:8552306
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Il18
interleukin 18
ISO
protein:increased expression:plasma
RGD
PMID:16428475
RGD:8655925
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il4
interleukin 4
ISO
mRNA:increased expression:skin
RGD
PMID:7963654
RGD:7829823
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
G
Mir22
microRNA 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26244872
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
G
Nfkb2
nuclear factor kappa B subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
G
Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
G
Prkcq
protein kinase C, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
G
Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Sezary syndrome
ClinVar
PMID:9989495
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Brd9
bromodomain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
G
Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
G
Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Chd3
chromodomain helicase DNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Il2rg
interleukin 2 receptor subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
G
Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
G
Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
G
Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
G
Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
G
Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16403914
RGD:8661723
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all