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.
GViewer not supported for the selected species.
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
G
Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chrNW_004955424:952,595...979,159
Ensembl chrNW_004955424:952,502...978,636
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
G
Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
G
Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chrNW_004955408:13,302,506...13,316,300
Ensembl chrNW_004955408:13,304,219...13,312,620
G
Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
G
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
G
Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chrNW_004955408:4,058,052...4,065,999
G
Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955410:25,079,835...25,084,390
G
Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chrNW_004955556:1,593,552...1,705,543
Ensembl chrNW_004955556:1,593,494...1,665,784
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
G
Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
G
Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
G
Ptpn6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177
G
Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
G
Tgfb1
transforming growth factor beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
G
Tlr2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
G
Tlr3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
G
Tlr4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
G
Tlr7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955544:424,897...443,562
Ensembl chrNW_004955544:424,850...443,564
G
Tlr8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955544:302,027...317,110
Ensembl chrNW_004955544:303,319...306,426
G
Tlr9
toll like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chrNW_004955486:9,571,527...9,573,733
Ensembl chrNW_004955486:9,571,530...9,573,733
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
G
Mkks
MKKS centrosomal shuttling protein
ISO
ClinVar Annotator: match by term: HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION | ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndrome
OMIM ClinVar
PMID:3196484 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15483080 PMID:15637713 PMID:15666242 PMID:15731008 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:21157496 PMID:21209035 PMID:22446187 PMID:22500027 PMID:22773737 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26355662 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28753627 PMID:28761321 PMID:29127258 PMID:29588463 PMID:30504698 PMID:30586318 PMID:30614526 PMID:30718709 PMID:31028937 PMID:33138063 PMID:33520300 PMID:34262361 PMID:34448047 PMID:34663891 PMID:35112343 PMID:35835773 More...
NCBI chrNW_004955415:20,292,311...20,315,850
Ensembl chrNW_004955415:20,292,663...20,300,797
G
Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15577323
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
G
Cxcl8
C-X-C motif chemokine ligand 8
ISO
associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)
RGD
PMID:18243333
RGD:150523783
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all