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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:Sexually Transmitted Diseases
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Accession:DOID:9004302 term browser browse the term
Definition:Diseases due to or propagated by sexual contact.
Synonyms:exact_synonym: STI;   Sexually Transmitted Disease;   Sexually Transmitted Infection;   Sexually Transmitted Infections;   Venereal Disease;   Venereal Diseases
 primary_id: MESH:D012749



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acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment ISO DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)
RGD PMID:23372834 PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 4:26,312,403...26,488,456 JBrowse link
G Arhgap44 Rho GTPase activating protein 44 disease_progression ISO DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)
RGD PMID:28069446 PMID:21107268 RGD:401901288, RGD:401901289 NCBI chr10:49,655,583...49,822,876 JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr16:18,216,605...18,220,979 JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr10:68,963,893...68,965,728 JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 NCBI chr 8:132,629,097...132,660,980 JBrowse link
G Cd209d CD209d molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr12:1,891,109...1,897,559 JBrowse link
G Cd4 Cd4 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr 4:159,355,147...159,381,636 JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Cd68 Cd68 molecule ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr10:54,880,562...54,882,441 JBrowse link
G Cd8a CD8 subunit alpha ISO associated with drug dependence; protein:increased expression:temporal lobe (human) RGD PMID:16873198 RGD:407420271 NCBI chr 4:104,924,116...104,928,353 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 1:88,161,342...88,175,102 JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chr16:74,133,259...74,145,328 JBrowse link
G Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 5:103,097,356...103,097,925 JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD
ClinVar
PMID:9612607 PMID:12854077 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 1:197,814,409...197,831,802 JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr 1:69,715,529...69,754,050 JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 1:78,657,409...78,665,255 JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr20:3,637,242...3,643,748 JBrowse link
G RT1-CE15 RT1 class I, locus CE15 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:3,275,575...3,279,074 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:3,261,656...3,265,548 JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:159,837,119...159,849,817 JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr 5:157,070,642...157,104,216 JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757 JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,912,760...57,914,802 JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr12:19,204,258...19,207,948 JBrowse link
G Gc GC, vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr14:18,632,146...18,667,563 JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr12:5,991,135...6,129,275 JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 9:91,001,137...91,053,959 JBrowse link
G Nefl neurofilament light chain ISO associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)
RGD PMID:30105502 PMID:27400930 RGD:127284876, RGD:127284885 NCBI chr15:46,477,330...46,481,203 JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 4:80,212,111...80,219,310 JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:45,565,371...45,818,722 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr 7:113,419,882...113,438,343 JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr10:62,322,688...62,357,060 JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:2 RGD:1303381 NCBI chr17:34,383,397...34,435,523 JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:116,914,320...116,918,504 JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 2:220,893,660...220,976,331 JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr19:54,449,151...54,453,701 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 5:164,167,985...164,277,438 JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:111,224,291...111,304,963 JBrowse link
G Notch4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr20:4,160,362...4,184,466 JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 1:85,720,812...85,749,079 JBrowse link
AIDS-Related Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klrk1 killer cell lectin like receptor K1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr 4:163,079,887...163,092,434 JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr13:23,204,464...23,366,900 JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr 4:159,355,147...159,381,636 JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:157,123,183...157,168,421 JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:91,837,139...91,839,736 JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:104,924,116...104,928,353 JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:69,812,859...69,819,959 JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:17,580,380...17,601,181 JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:103,097,356...103,097,925 JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:29,390,300...29,405,194 JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 2:120,117,105...120,127,012 JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:38,272,003...38,277,549 JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,079,887...163,092,434 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr16:8,645,171...8,728,225 JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:127,952,161...127,956,230 JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:78,657,409...78,665,255 JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,866,124...101,879,278 JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:41,026,079...41,085,577 JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:159,212,320...159,237,069 JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr10:60,250,198...60,262,593 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:171,499,189...171,504,831 JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:53,554,916...53,572,321 JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:85,161,247...85,174,882 JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:30,644,324...30,670,796 JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:30,708,714...30,733,104 JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:115,743,407...115,747,523 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:171,901,734...171,904,578 JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc2 baculoviral IAP repeat-containing 2 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:13,253,697...13,273,672 JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:13,285,702...13,313,329 JBrowse link
chlamydia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16118671 RGD:8549760 NCBI chr 8:132,629,097...132,660,980 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr  X:17,580,380...17,601,181 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chr 8:27,829,688...27,841,618 JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO mRNA:increased expression:lung (mouse) RGD PMID:30832593 PMID:31249813 RGD:38455984, RGD:39938856 NCBI chr16:74,133,259...74,145,328 JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chr10:38,290,926...38,293,483 JBrowse link
G Il17a interleukin 17A ISO associated with Bronchial Hyprractivity; mRNA:increased expression:lung RGD PMID:20228193 PMID:19812198 RGD:4888528, RGD:4889101 NCBI chr 9:30,640,844...30,644,331 JBrowse link
G Mir21 microRNA 21 ISO associated with asthma;RNA:increased expression:lung RGD PMID:27448447 RGD:41404696 NCBI chr10:71,902,600...71,902,691 JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr20:3,626,685...3,629,303 JBrowse link
Chlamydia pneumonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr 1:236,526,215...236,549,956 JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA:increased expression:lung RGD PMID:26378990 RGD:41412180 NCBI chr 9:101,866,124...101,879,278 JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta severity ISO RGD PMID:29893841 RGD:40890270 NCBI chr 5:165,377,994...165,426,620 JBrowse link
Coronary Artery Disease, Development of, in HIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 NCBI chr10:67,503,077...67,504,875 JBrowse link
genital herpes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl5 C-C motif chemokine ligand 5 ISO RGD PMID:12502811 RGD:4890015 NCBI chr10:68,820,330...68,824,906 JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr11:30,725,774...30,752,227 JBrowse link
G Ifng interferon gamma ISO protein:increased expression:vaginal secretion: RGD PMID:10366565 RGD:8158034 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:24358128 RGD:127285365 NCBI chr 2:120,117,105...120,127,012 JBrowse link
G Il3 interleukin 3 ISO RNA: increased expression RGD PMID:21175248 RGD:5686876 NCBI chr10:38,906,460...38,908,810 JBrowse link
G Irf9 interferon regulatory factor 9 exacerbates ISO RGD PMID:28264883 RGD:125093738 NCBI chr15:29,095,474...29,101,924 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ameliorates ISO RGD PMID:31555293 RGD:42722615 NCBI chr 3:81,001,529...81,031,165 JBrowse link
G Rnasel ribonuclease L severity ISO RGD PMID:17157346 RGD:40902623 NCBI chr13:68,446,641...68,460,804 JBrowse link
G Stat4 signal transducer and activator of transcription 4 treatment
severity
ISO DNA:SNP:intron:rs7572482 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:22718836 PMID:22718836 RGD:8661697, RGD:8661697 NCBI chr 9:49,472,660...49,588,540 JBrowse link
HIV Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO RGD PMID:29632166 RGD:13782045 NCBI chr11:37,506,207...37,724,351 JBrowse link
G Bace1 beta-secretase 1 ISO RGD PMID:29632166 RGD:13782045 NCBI chr 8:55,038,842...55,061,138 JBrowse link
G Cd68 Cd68 molecule ISO protein:increased expression:brain (human) RGD PMID:15488024 RGD:40925943 NCBI chr10:54,880,562...54,882,441 JBrowse link
G Cdk5 cyclin-dependent kinase 5 IDA protein:increased tyrosine phosphorylation:hippocampus RGD PMID:28107387 RGD:13506927 NCBI chr 4:11,647,098...11,651,606 JBrowse link
G Mfn1 mitofusin 1 ISO associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) RGD PMID:26611103 RGD:12910851 NCBI chr 2:115,313,380...115,359,651 JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO RGD PMID:15579294 RGD:40902823 NCBI chr11:30,475,510...30,478,886 JBrowse link
HIV Seropositivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17209195 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit susceptibility ISO DNA:SNP:CDS:p.F217L (rs1047552) (human) RGD PMID:19774691 RGD:13703126 NCBI chr 8:67,429,198...67,454,735 JBrowse link
G Clec4m C-type lectin domain family 4 member M susceptibility ISO DNA:repeats:exon 4
DNA:repeat:
RGD PMID:25656622 PMID:20217198 PMID:16453266 RGD:11520989, RGD:39938989, RGD:39938979 NCBI chr12:1,915,902...1,924,529 JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27091211 RGD:40818300 NCBI chr 4:163,079,887...163,092,434 JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 treatment ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:18724804 PMID:27091211 RGD:40818277, RGD:40818300 NCBI chr 1:78,657,409...78,665,255 JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:30105502 RGD:127284876 NCBI chr15:46,477,330...46,481,203 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20224785 RGD:5147578 NCBI chr20:4,548,664...4,558,237 JBrowse link
HIV Wasting Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:136,979,804...136,990,236 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:3,626,685...3,629,303 JBrowse link
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:12876073 RGD:8694470 NCBI chr11:91,226,524...91,240,244 JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:64,839,820...64,844,552 JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:20331838 PMID:15353983 RGD:8655915, RGD:8655934 NCBI chr 8:59,802,072...59,829,275 JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 2:176,237,564...176,265,301 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 8:12,943,453...12,963,966 JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 5:139,912,395...139,945,532 JBrowse link
human immunodeficiency virus infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment
severity
IEP
ISO
mRNA:altered expression:brain, heart, kidney (rat)
DNA:SNPs: :4036A>G, 1236C>T (human)
RGD PMID:24472536 PMID:23133441 PMID:27334660 RGD:11041168, RGD:39456100, RGD:39456096 NCBI chr 4:26,312,403...26,488,456 JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B IDA
IEP
mRNA:decreased expression, increased expression:brain, kidney (rat) RGD PMID:16790532 PMID:24472536 RGD:1598562, RGD:11041168 NCBI chr 4:26,197,706...26,280,156 JBrowse link
G Abce1 ATP binding cassette subfamily E member 1 ISO DNA:mutations:multiple (human) RGD PMID:19657357 RGD:11041871 NCBI chr19:28,205,566...28,230,489 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,912,760...57,914,802 JBrowse link
G Aicda activation-induced cytidine deaminase ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:30219203 RGD:127285639 NCBI chr 4:157,446,120...157,455,958 JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16903978 NCBI chr14:17,891,564...17,907,043 JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:105,871,424...105,875,076 JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12646808 NCBI chr 8:55,423,945...55,425,729 JBrowse link
G Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:29,806,214...29,834,217 JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr  X:151,636,071...151,651,528 JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:106,352,858...106,356,347 JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:171,554,139...171,573,057 JBrowse link
G Atm ATM serine/threonine kinase ISO protein:decreased expression:T cell (human) RGD PMID:31781094 RGD:126790561 NCBI chr 8:62,724,939...62,829,040 JBrowse link
G Bag3 BAG cochaperone 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187345 NCBI chr 1:192,533,460...192,557,281 JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 1:105,076,472...105,081,906 JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:13,253,697...13,273,672 JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:13,285,702...13,313,329 JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr16:18,216,605...18,220,979 JBrowse link
G C3 complement C3 ISO RGD PMID:7561187 RGD:11040775 NCBI chr 9:2,174,412...2,201,339 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 susceptibility ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
ClinVar
OMIM
CTD
RGD
PMID:14571188 PMID:27246604 RGD:14995461 NCBI chr10:67,525,975...67,530,576 JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:14571188 PMID:27246604 RGD:14995461 NCBI chr10:67,503,077...67,504,875 JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:68,948,889...68,950,439 JBrowse link
G Ccl4 C-C motif chemokine ligand 4 susceptibility ISO RGD PMID:16250882 RGD:5683897 NCBI chr10:68,963,893...68,965,728 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10200305 PMID:12114533 PMID:12610055 NCBI chr10:68,820,330...68,824,906 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD
OMIM
ClinVar
PMID:9252328 PMID:9662369 PMID:25741868 NCBI chr 8:132,611,883...132,619,106 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10202824 NCBI chr 8:123,586,100...123,634,178 JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human)
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:4892094 NCBI chr 8:132,629,097...132,660,980 JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:173,765,701...173,790,353 JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:84,302,621...84,313,773 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:119,546,730...119,563,973 JBrowse link
G Cd163 CD163 molecule exacerbates
treatment
ISO protein:increased expression:blood plasma (human) RGD PMID:23916293 PMID:24594990 RGD:127285682, RGD:149735575 NCBI chr 4:157,085,080...157,118,470 JBrowse link
G Cd209d CD209d molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD
OMIM
ClinVar
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 NCBI chr12:1,891,109...1,897,559 JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:30161254 PMID:30236481 RGD:41412179, RGD:41412181 NCBI chr 1:236,526,215...236,549,956 JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7492435 NCBI chr 9:69,660,316...69,689,192 JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasmacytoid dendritic cell RGD PMID:20559432 RGD:5490533 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21177803 RGD:5490598 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Cd68 Cd68 molecule disease_progression ISO associated with opioid use;protein:increased expression:brain (human) RGD PMID:22797933 RGD:41404655 NCBI chr10:54,880,562...54,882,441 JBrowse link
G Cd8a CD8 subunit alpha treatment ISO RGD PMID:29384862 RGD:124715453 NCBI chr 4:104,924,116...104,928,353 JBrowse link
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:154,838,478...154,876,629 JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr20:7,150,820...7,161,373 JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:3,769,522...3,778,367 JBrowse link
G Cops6 COP9 signalosome subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:17,038,979...17,041,818 JBrowse link
G Cr2 complement C3d receptor 2 ISO protein:decreased expression:B cell RGD PMID:8442917 RGD:127338249 NCBI chr13:109,207,034...109,244,980 JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:22448211 RGD:6482303 NCBI chr13:87,694,062...87,695,978 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 8:128,661,294...128,679,048 JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:plasma RGD PMID:27246604 RGD:14995461 NCBI chr14:15,989,066...15,991,263 JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CXCL12-related condition | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM
CTD
ClinVar
PMID:9430590 PMID:25741868 NCBI chr 4:152,060,781...152,073,628 JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: CXCR1-related condition | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18550579 PMID:25741868 PMID:28492532 NCBI chr 9:83,216,040...83,220,225 JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 treatment ISO DNA:haplotype: :CYP2B6*6(human)
DNA:SNPs: :516G>T,983T>C (human)
RGD PMID:21862974 PMID:18281305 RGD:11098366, RGD:11097175 NCBI chr 1:90,780,468...90,859,852 JBrowse link
G Ddx1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24183723 NCBI chr 6:35,996,469...36,027,340 JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:24183723 NCBI chr  X:9,479,532...9,493,169 JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:86,018,977...86,055,419 JBrowse link
G Eif3b eukaryotic translation initiation factor 3, subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:19,310,308...19,334,768 JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:54,883,093...54,888,602 JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:71,495,457...71,508,845 JBrowse link
G Eif6 eukaryotic translation initiation factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:144,325,038...144,331,396 JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:157,509,258...157,517,540 JBrowse link
G Ephb2 Eph receptor B2 ISO mRNA:decreased expression:Anterior cingulate RGD PMID:23314923 RGD:127285026 NCBI chr 5:154,179,065...154,360,459 JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:10200468 RGD:11049451 NCBI chr 1:241,212,155...241,245,774 JBrowse link
G Fcer2 Fc epsilon receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:11500085 NCBI chr12:1,742,809...1,754,476 JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:21187939 RGD:5508390 NCBI chr13:85,782,636...85,792,656 JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 4:97,484,497...97,486,799 JBrowse link
G Gc GC, vitamin D binding protein disease_progression ISO RGD PMID:2883392 RGD:5509934 NCBI chr14:18,632,146...18,667,563 JBrowse link
G Grpel1 GrpE-like 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:74,292,023...74,298,243 JBrowse link
G Gtf3a general transcription factor III A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:13,250,643...13,258,587 JBrowse link
G Hdgf heparin binding growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:173,370,147...173,379,756 JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:54,449,151...54,453,701 JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:135,523,604...135,529,687 JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:22,930,249...22,935,929 JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:26,536,131...26,554,294 JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:26,430,640...26,432,301 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:64,073,610...64,084,332 JBrowse link
G Hsph1 heat shock protein family H (Hsp110) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:5,390,916...5,410,224 JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10202824 NCBI chr 7:55,789,180...55,793,216 JBrowse link
G Il10 interleukin 10 treatment
susceptibility
ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:10202824 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 More... RGD:7365087 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Il15 interleukin 15 ISO protein:decreased expression:plasma RGD PMID:20028198 RGD:4892672 NCBI chr19:42,536,160...42,611,349 JBrowse link
G Il17d interleukin 17D severity ISO Protein:increased expression:blood plasma (human) RGD PMID:28592538 RGD:40903074 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:serum:
associated with hepatitis C; protein:increased expression:serum:
RGD PMID:27927859 PMID:27927859 RGD:14696653, RGD:14696653 NCBI chr 8:59,802,072...59,829,275 JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr13:42,397,715...42,411,637 JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 2:121,932,968...121,937,672 JBrowse link
G Il21 interleukin 21 ISO associated with hepatitis B;protein:decreased expression:blood serum (human) RGD PMID:22948268 RGD:127285366 NCBI chr 2:120,117,105...120,127,012 JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22530560 RGD:6892924 NCBI chr 1:180,168,028...180,195,690 JBrowse link
G Il27 interleukin 27 ameliorates ISO protein:increased expression:blood plasma (human)
associated with hepatitis C;protein:increased expression:blood plasma (human)
RGD PMID:28338007 PMID:24816922 RGD:126790518, RGD:126790553 NCBI chr 1:181,173,108...181,178,720 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:66,849,974...66,898,665 JBrowse link
G Il4r interleukin 4 receptor ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:180,115,061...180,139,981 JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:178,256,927...178,268,773 JBrowse link
G Ipo7 importin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:173,497,472...173,537,707 JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 susceptibility ISO DNA:deletion:cds
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17496894 PMID:31863692 RGD:38676444 NCBI chr 1:69,715,529...69,754,050 JBrowse link
G Kmt2e lysine methyltransferase 2E ISO protein:increased expression:peripheral blood, T cell, CD4+ (human) RGD PMID:16046540 RGD:9588555 NCBI chr 4:12,550,570...12,655,329 JBrowse link
G Kpnb1 karyopherin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:82,145,662...82,174,437 JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase IDA protein:increased tyrosine phosphorylation:T cell RGD PMID:16828835 RGD:1600221 NCBI chr 5:147,172,642...147,201,267 JBrowse link
G Lepr leptin receptor ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:12100031 RGD:21079471 NCBI chr 5:121,409,735...121,593,201 JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:21,437,127...21,553,097 JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:19966940 RGD:6483319 NCBI chr 9:75,173,038...75,431,606 JBrowse link
G Maz MYC associated zinc finger protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:181,629,742...181,635,193 JBrowse link
G Mbl2 mannose binding lectin 2 no_association
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:
CTD
RGD
PMID:16960176 PMID:26348711 PMID:19796822 RGD:12910931, RGD:12910857 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 7:55,176,558...55,201,757 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21576701 RGD:6483531 NCBI chr 1:199,926,150...199,952,847 JBrowse link
G Mvb12a multivesicular body subunit 12A ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr16:18,252,227...18,257,111 JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:111,224,291...111,304,963 JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:30005007 RGD:127285390 NCBI chr15:46,477,330...46,481,203 JBrowse link
G Nefm neurofilament medium chain ISO protein:increased serine/threonine phosphorylation:brain RGD PMID:26033855 RGD:40886309 NCBI chr15:46,535,857...46,541,161 JBrowse link
G Nup88 nucleoporin 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:55,667,903...55,692,249 JBrowse link
G Nutf2 nuclear transport factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:33,752,319...33,773,595 JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:46,058,439...46,065,148 JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 4:148,030,237...148,037,599 JBrowse link
G Oprm1 opioid receptor, mu 1 IEP mRNA:increased expression:macrophage RGD PMID:17553897 RGD:2316609 NCBI chr 1:45,565,371...45,818,722 JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:30161254 RGD:41412179 NCBI chr 9:101,866,124...101,879,278 JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:18096355 RGD:6482728 NCBI chr 5:156,359,725...156,362,302 JBrowse link
G Plaur plasminogen activator, urokinase receptor disease_progression ISO protein:increased expression:plasma RGD PMID:21384094 PMID:20229356 RGD:6484120, RGD:6484128 NCBI chr 1:89,181,363...89,196,308 JBrowse link
G Pomc proopiomelanocortin ISO mRNA:decreased expression:striatum RGD PMID:20651230 RGD:407571693 NCBI chr 6:32,659,137...32,665,175 JBrowse link
G Ppia peptidylprolyl isomerase A disease_progression ISO DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) RGD PMID:17590083 RGD:150383341 NCBI chr14:81,279,292...81,282,960 JBrowse link
G Ppib peptidylprolyl isomerase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:66,603,877...66,609,734 JBrowse link
G Prf1 perforin 1 ISO DNA:SNP: :rs885822 (human) RGD PMID:20523897 PMID:21157294 RGD:6482808, RGD:6482819 NCBI chr20:29,246,202...29,251,712 JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:60,331,494...60,354,606 JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:64,236,520...64,243,980 JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:195,896,369...195,919,733 JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:78,500,676...78,531,693 JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:33,830,958...33,833,442 JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:182,442,757...182,445,532 JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:77,031,825...77,037,207 JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:91,187,763...91,193,697 JBrowse link
G Psmd13 proteasome 26S subunit, non-ATPase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:195,964,617...195,976,895 JBrowse link
G Psmd3 proteasome 26S subunit, non-ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:84,139,249...84,151,879 JBrowse link
G Psmd6 proteasome 26S subunit, non-ATPase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:11,102,174...11,112,180 JBrowse link
G Psmd8 proteasome 26S subunit, non-ATPase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:93,601,857...93,608,689 JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:29,069,012...29,071,888 JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:29,078,495...29,082,794 JBrowse link
G Psme3 proteasome activator subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:86,757,933...86,765,719 JBrowse link
G Psme4 proteasome activator subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:108,706,643...108,810,330 JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:1,548,449...1,613,461 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP mRNA, protein:increased expression:brain RGD PMID:21846384 RGD:5508195 NCBI chr13:64,714,063...64,722,320 JBrowse link
G Rab11b RAB11B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:15,223,613...15,236,754 JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:4,946,193...4,961,003 JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:27,674,049...27,678,598 JBrowse link
G Ranbp1 RAN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:96,246,912...96,255,145 JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms (human) RGD PMID:18427198 RGD:5147817 NCBI chr20:4,575,134...4,579,727 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)
RGD PMID:20345872 PMID:18427198 RGD:5147659, RGD:5147817 NCBI chr20:4,598,475...4,604,118 JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:21427211 RGD:5490157 NCBI chr20:4,513,464...4,518,457 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 disease_progression
susceptibility
ISO DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
DNA:polymorphisms: :multiple (human)
RGD PMID:28244954 PMID:21257739 PMID:20345872 RGD:40903000, RGD:5147591, RGD:5147659 NCBI chr20:4,548,664...4,558,237 JBrowse link
G Selp selectin P ISO RGD PMID:22156911 RGD:6218986 NCBI chr13:76,476,229...76,511,846 JBrowse link
G Serpina1 serpin family A member 1 susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphism:cds:p.Glu264Val(human)
CTD
RGD
PMID:17448989 PMID:24122823 RGD:14695057 NCBI chr 6:128,631,101...128,653,125 JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:136,967,713...136,987,345 JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:139,338,034...139,353,476 JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16204638 NCBI chr 5:56,904,155...56,907,012 JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19720090 NCBI chr20:25,305,953...25,328,000 JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:75,957,193...75,968,115 JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:13,130,112...13,145,947 JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:5,389,574...5,391,265 JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:103,692,579...103,695,975 JBrowse link
G Srf serum response factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:21,924,050...21,933,338 JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:73,335,519...73,342,549 JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:41,278,225...41,284,502 JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO mRNA:increased expression:multiple tissues (human) RGD PMID:24367701 RGD:39128218 NCBI chr18:27,606,196...27,612,544 JBrowse link
G Taf9 TATA-box binding protein associated factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:33,528,388...33,532,395 JBrowse link
G Tlr3 toll-like receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD
OMIM
ClinVar
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 More... NCBI chr16:53,554,916...53,572,321 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8811349 NCBI chr 5:157,123,183...157,168,421 JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma RGD PMID:31260499 RGD:126925971 NCBI chr 9:20,259,227...20,276,879 JBrowse link
G Trim5 tripartite motif-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:15249687 NCBI chr 1:158,720,407...158,737,393 JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:9,742,904...9,753,840 JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr 7:130,864,764...130,916,757 JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:133,471,615...133,500,875 JBrowse link
Neurosyphilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain disease_progression ISO protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr15:46,477,330...46,481,203 JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 disease_progression ISO protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr 9:12,647,605...12,654,190 JBrowse link
syphilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:18008231 RGD:8551830 NCBI chr 8:132,629,097...132,660,980 JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:27284313 RGD:38456006 NCBI chr  X:17,580,380...17,601,181 JBrowse link
G Nefl neurofilament light chain ISO associated with age;protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr15:46,477,330...46,481,203 JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO associated with age;protein:increased expression:CSF (human) RGD PMID:32117023 RGD:127285386 NCBI chr 9:12,647,605...12,654,190 JBrowse link
trachoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 no_association
severity
ISO protein:increased expression:tear
DNA:SNP:promoter:−1082G>A (human)
DNA:SNP:promoter:−819T>C, −592A>C (human)
DNA:SNP, haplotype:promoter:−1082G>A (human)
DNA:haplotype: :
RGD PMID:18628987 PMID:11023480 PMID:11023480 PMID:15789056 PMID:17947295 RGD:7365037, RGD:7365085, RGD:7365085, RGD:7365072, RGD:7365053 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:conjunctiva (human) RGD PMID:21911461 RGD:9068420 NCBI chr 9:30,640,844...30,644,331 JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian) RGD PMID:18824733 RGD:7364877 NCBI chr20:3,314,491...3,322,815 JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP, haplotypes:promoter:−308G>A (human) RGD PMID:17330135 RGD:8548830 NCBI chr20:3,626,685...3,629,303 JBrowse link
Trachomatous Trichiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO mRNA:decreased expression:tarsal conjunctiva (human) RGD PMID:20375326 RGD:8552676 NCBI chr10:80,380,458...80,397,461 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease by infectious agent 2254
      viral infectious disease 1718
        Sexually Transmitted Diseases 236
          Bacterial Sexually Transmitted Diseases + 20
          Viral Sexually Transmitted Diseases + 227
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Urogenital Diseases 5391
        Female Urogenital Diseases and Pregnancy Complications 2668
          Female Urogenital Diseases 2191
            female reproductive system disease 2188
              Sexually Transmitted Diseases 236
                Bacterial Sexually Transmitted Diseases + 20
                Viral Sexually Transmitted Diseases + 227
paths to the root