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Pathways

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:primary cutaneous T-cell non-Hodgkin lymphoma
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Accession:DOID:0060061 term browser browse the term
Definition:A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO)
Synonyms:exact_synonym: cutaneous T-cell lymphoma;   cutaneous T-cell lymphomas;   granulomatous slack skin
 xref: EFO:0002913;   GARD:6226;   MESH:D016410;   MONDO:0000607;   NCI:C186279;   NCI:C3467



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primary cutaneous T-cell non-Hodgkin lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr12:18,735,088...18,872,045
Ensembl chr12:18,735,088...18,872,045
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 disease_progression ISO mRNA, protein:increased expression:skin, serum RGD PMID:22048239 RGD:7483601 NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:20505746 RGD:11087556 NCBI chr12:26,745,972...26,750,924 JBrowse link
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 1:55,021,833...55,046,059
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 PMID:26258847 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
JBrowse link
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 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248
JBrowse link
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 5:109,114,322...109,134,855
JBrowse link
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:50,431,689...50,481,012
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma RGD PMID:16428475 RGD:8655925 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skin RGD PMID:7963654 RGD:7829823 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,930,471...33,948,730
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754746 NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:185,908,168...185,938,782
JBrowse link
G Mir22 microRNA 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26244872 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,805,331...60,805,425
JBrowse link
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 1:255,107,374...255,114,637
JBrowse link
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 3:169,804,846...169,836,050
JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:72,156,215...72,288,508
Ensembl chr17:72,156,215...72,288,508
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302
JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:86,207,293...86,275,990
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr17:56,644,397...56,811,155
Ensembl chr17:56,644,397...56,810,745
JBrowse link
Lymphomatoid Papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11594583 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11594583 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:11594583 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
JBrowse link
mycosis fungoides term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin disease_progression ISO RGD PMID:23702390 RGD:8923490 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis, dermis (human) RGD PMID:24127318 RGD:8695934 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*03 (human) RGD PMID:15761416 RGD:7483574 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:skin: RGD PMID:20833513 RGD:8547521 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168
JBrowse link
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 5:162,353,848...162,387,411
JBrowse link
Sezary's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Sezary syndrome ClinVar PMID:9989495 NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:237,501,134...237,511,829
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931
JBrowse link
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 1:31,158,546...31,186,125
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chr12:18,735,088...18,872,045
Ensembl chr12:18,735,088...18,872,045
JBrowse link
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 8:123,054,324...123,077,642
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248
JBrowse link
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 chr10:54,562,437...54,588,810
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970
JBrowse link
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:70,435,343...70,439,161
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825
JBrowse link
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 3:169,804,846...169,836,050
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:237,818,950...239,052,184
Ensembl chr 1:237,823,053...239,103,005
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
JBrowse link
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 5:151,362,819...151,476,044
JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16403914 RGD:8661723 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186
JBrowse link
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 5:162,353,848...162,387,411
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr17:56,644,397...56,811,155
Ensembl chr17:56,644,397...56,810,745
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Histologic Type 5351
        lymphoma 580
          non-Hodgkin lymphoma 488
            T-cell non-Hodgkin lymphoma 190
              peripheral T-cell lymphoma 58
                primary cutaneous T-cell non-Hodgkin lymphoma 52
                  Lymphomatoid Papulosis 3
                  Primary Cutaneous Anaplastic Large Cell Lymphoma 0
                  Sezary's disease 26
                  mycosis fungoides + 5
                  primary cutaneous gamma-delta T-cell lymphoma 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          lymphatic system disease 1751
            lymphoproliferative syndrome 1150
              lymphoma 580
                non-Hodgkin lymphoma 488
                  T-cell non-Hodgkin lymphoma 190
                    mature T-cell and NK-cell lymphoma 66
                      peripheral T-cell lymphoma 58
                        primary cutaneous T-cell non-Hodgkin lymphoma 52
                          Lymphomatoid Papulosis 3
                          Primary Cutaneous Anaplastic Large Cell Lymphoma 0
                          Sezary's disease 26
                          mycosis fungoides + 5
                          primary cutaneous gamma-delta T-cell lymphoma 0
paths to the root