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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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