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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: STDs;   STI;   STIs;   Sexually Transmitted Disease;   Sexually Transmitted Infection;   Sexually Transmitted Infections;   Venereal Disease;   Venereal Diseases
 primary_id: MESH:D012749;   RDO:0006556
For additional species annotation, visit the Alliance of Genome Resources.


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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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd209 CD209 molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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 chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4r interleukin 4 receptor ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to ClinVar PMID:2278997, PMID:2307934, PMID:9620765, PMID:15712015, PMID:16189667 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
JBrowse link
G LOC100364500 RT1 class I, locus CE11-like susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
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 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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 chr20:5,170,169...5,175,773
Ensembl chr20:5,170,215...5,175,773
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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 chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040, PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Notch4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342, PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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 chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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 chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 null ClinVar PMID:11500196, PMID:15466648, PMID:16352737, PMID:16596675, PMID:18940815 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:vaginal secretion: RGD PMID:10366565 RGD:8158034 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il3 interleukin 3 ISO RNA: increased expression RGD PMID:21175248 RGD:5686876 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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 chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Bace1 beta-secretase 1 ISO RGD PMID:29632166 RGD:13782045 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Cdk5 cyclin-dependent kinase 5 IDA protein:increased tyrosine phosphorylation:hippocampus RGD PMID:28107387 RGD:13506927 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
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 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
JBrowse link
G Clec4m C-type lectin domain family 4 member M susceptibility ISO DNA:repeats:exon 4 RGD PMID:25656622, PMID:16453266 RGD:11520989, RGD:39938979 NCBI chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
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 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20224785 RGD:5147578 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA
IEP
mRNA:decreased expression, increased expression:brain, kidney (rat) RGD PMID:16790532, PMID:24472536 RGD:1598562, RGD:11041168 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abce1 ATP binding cassette subfamily E member 1 ISO DNA:mutations:multiple (human) RGD PMID:19657357 RGD:11041871 NCBI chr19:31,867,960...31,892,863
Ensembl chr19:31,867,981...31,892,863
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16903978 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:109,768,593...109,774,639
Ensembl chr10:109,770,876...109,774,639
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12646808 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:31,112,083...31,138,142
Ensembl chr18:31,112,623...31,136,200
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:170,913,920...170,932,789
Ensembl chr 4:170,913,923...170,932,618
JBrowse link
G Bag3 BAG cochaperone 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187345 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:6,014,014...6,036,668
Ensembl chr 8:6,013,207...6,034,142
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:6,048,590...6,076,828
Ensembl chr 8:6,048,969...6,076,598
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 chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G C3 complement C3 ISO RGD PMID:7561187 RGD:11040775 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 susceptibility ISO ClinVar Annotator: match by OMIM:609423
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14571188, PMID:27246604 RGD:14995461 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO ClinVar Annotator: match by OMIM:609423
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14571188, PMID:27246604 RGD:14995461 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 susceptibility ISO RGD PMID:16250882 RGD:5683897 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by
ClinVar PMID:10200305, PMID:12114533, PMID:12610055 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by synonym: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO ClinVar PMID:9252328, PMID:9662369
G Ccr3 C-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10202824 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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, susceptibility to
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of
ClinVar Annotator: match by synonym: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
ClinVar PMID:8639485, PMID:8751444, PMID:8756719, PMID:9055842, PMID:9132277, PMID:9140404, PMID:9207783, PMID:9399903, PMID:9433423, PMID:9466996, PMID:9511755, PMID:9585595, PMID:9600249, PMID:9742978, PMID:9768627, PMID:10520641, PMID:10559343, PMID:10615909, PMID:10803840, PMID:11081537, PMID:11369664, PMID:11403804, PMID:11403814, PMID:11517319, PMID:11781692, PMID:12610055, PMID:12815099, PMID:12874407, PMID:15744032, PMID:15863470, PMID:16216086, PMID:16248677, PMID:16418398, PMID:19017985, PMID:19073967, PMID:28492532, PMID:16379602 RGD:4892094 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:187,669,051...187,693,610
Ensembl chr 2:187,668,796...187,693,610
JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:84,667,578...84,678,730
Ensembl chr 2:84,667,633...84,678,790
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:117,235,023...117,252,265
Ensembl chr 4:117,235,023...117,252,265
JBrowse link
G Cd209 CD209 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 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7492435 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasmacytoid dendritic cell RGD PMID:20559432 RGD:5490533 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21177803 RGD:5490598 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166
JBrowse link
G Cops6 COP9 signalosome subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:19,303,387...19,306,226
Ensembl chr12:19,303,387...19,306,226
JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:22448211 RGD:6482303 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:plasma RGD PMID:27246604 RGD:14995461 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 susceptibility ISO ClinVar Annotator: match by OMIM:609423
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9430590 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 9:81,466,430...81,469,299
Ensembl chr 9:81,466,332...81,469,274
JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:88,498,271...88,533,730
Ensembl chr10:88,498,238...88,533,829
JBrowse link
G Eif3b eukaryotic translation initiation factor 3, subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:16,285,730...16,310,190
Ensembl chr12:16,285,733...16,310,190
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:56,271,257...56,276,764
Ensembl chr10:56,271,257...56,276,764
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
JBrowse link
G Eif6 eukaryotic translation initiation factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:151,356,867...151,363,201
Ensembl chr 3:151,356,868...151,363,115
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:10200468 RGD:11049451 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:11500085 NCBI chr12:2,233,772...2,245,324
Ensembl chr12:2,233,778...2,245,324
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:21187939 RGD:5508390 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 4:97,782,512...97,784,814
Ensembl chr 4:97,782,512...97,784,842
JBrowse link
G Gc GC, vitamin D binding protein disease_progression ISO RGD PMID:2883392 RGD:5509934 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Grpel1 GrpE-like 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:79,458,951...79,464,782
Ensembl chr14:79,458,963...79,464,770
JBrowse link
G Gtf3a general transcription factor III A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:9,856,841...9,864,791
Ensembl chr12:9,856,842...9,864,791
JBrowse link
G Hdgf heparin binding growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:187,274,898...187,284,670
Ensembl chr 2:187,275,120...187,284,281
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
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 9:17,817,791...17,823,163
Ensembl chr 9:17,817,721...17,823,243
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Hsph1 heat shock protein family H (Hsp110) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:6,322,685...6,341,898
Ensembl chr12:6,322,668...6,341,902
JBrowse link
G Ifng interferon gamma susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10202824 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609423
OMIM
CTD
ClinVar
PMID:10202824, PMID:11121048, PMID:14657422, PMID:14657427, PMID:10666520 RGD:7365087 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il15 interleukin 15 ISO protein:decreased expression:plasma RGD PMID:20028198 RGD:4892672 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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 NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22530560 RGD:6892924 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:189,857,587...189,877,777
Ensembl chr 2:189,857,587...189,877,743
JBrowse link
G Ipo7 importin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:174,655,939...174,696,173
Ensembl chr 1:174,655,939...174,696,173
JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 susceptibility ISO DNA:deletion:cds RGD PMID:31863692 RGD:38676444 NCBI chr 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
JBrowse link
G Kmt2e lysine methyltransferase 2E ISO protein:increased expression:peripheral blood, T cell, CD4+ (human) RGD PMID:16046540 RGD:9588555 NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514
JBrowse link
G Kpnb1 karyopherin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:85,096,517...85,124,641
Ensembl chr10:85,093,841...85,124,644
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 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
JBrowse link
G Lepr leptin receptor ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:12100031 RGD:21079471 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:16,526,058...16,642,648
Ensembl chr 5:16,526,058...16,642,648
JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:19966940 RGD:6483319 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Maz MYC associated zinc finger protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
JBrowse link
G Mbl2 mannose binding lectin 2 no_association
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:
CTD PMID:16960176, PMID:26348711, PMID:19796822 RGD:12910931, RGD:12910857 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21576701 RGD:6483531 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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 chr16:19,973,611...19,978,479
Ensembl chr16:19,973,636...19,978,478
JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nup88 nucleoporin 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
JBrowse link
G Nutf2 nuclear transport factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:37,830,917...37,852,192
Ensembl chr19:37,830,917...37,852,189
JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Oprm1 opioid receptor, mu 1 IEP mRNA:increased expression:macrophage RGD PMID:17553897 RGD:2316609 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:18096355 RGD:6482728 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Ppib peptidylprolyl isomerase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:71,719,681...71,725,538
Ensembl chr 8:71,719,563...71,725,562
JBrowse link
G Prf1 perforin 1 ISO DNA:SNP: :rs885822 (human) RGD PMID:20523897, PMID:21157294 RGD:6482808, RGD:6482819 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:59,532,456...59,539,916
Ensembl chr 8:59,532,389...59,539,920
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:211,050,344...211,073,706
Ensembl chr 2:211,050,360...211,073,714
JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:76,174,460...76,205,429
Ensembl chr 6:76,174,452...76,205,426
JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:37,909,543...37,912,027
Ensembl chr19:37,909,546...37,912,027
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:94,445,877...94,451,811
Ensembl chr10:94,445,877...94,451,811
JBrowse link
G Psmd13 proteasome 26S subunit, non-ATPase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:213,636,159...213,648,499
Ensembl chr 1:213,636,093...213,648,488
JBrowse link
G Psmd3 proteasome 26S subunit, non-ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:86,599,007...86,611,180
Ensembl chr10:86,599,220...86,611,188
JBrowse link
G Psmd6 proteasome 26S subunit, non-ATPase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:12,407,557...12,416,153
Ensembl chr15:12,407,524...12,416,105
JBrowse link
G Psmd8 proteasome 26S subunit, non-ATPase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:88,116,811...88,123,643
Ensembl chr 1:88,116,812...88,123,643
JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:34,256,071...34,258,947
Ensembl chr15:34,256,071...34,258,947
JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:34,265,552...34,269,851
Ensembl chr15:34,265,557...34,269,851
JBrowse link
G Psme3 proteasome activator subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:89,236,256...89,244,041
Ensembl chr10:89,236,256...89,244,041
JBrowse link
G Psme4 proteasome activator subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:115,166,165...115,269,041
Ensembl chr14:115,166,416...115,269,056
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP mRNA, protein:increased expression:brain RGD PMID:21846384 RGD:5508195 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rab11b RAB11B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:18,598,991...18,612,132
Ensembl chr 7:18,598,880...18,612,147
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:31,319,556...31,324,105
Ensembl chr12:31,320,624...31,323,810
JBrowse link
G Ranbp1 RAN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms (human) RGD PMID:18427198 RGD:5147817 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:21427211 RGD:5490157 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 disease_progression ISO DNA:polymorphism (human)
DNA:polymorphisms: :multiple (human)
RGD PMID:21257739, PMID:20345872 RGD:5147591, RGD:5147659 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Selp selectin P ISO RGD PMID:22156911 RGD:6218986 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpina1 serpin family A member 1 susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphism:cds:p.Glu264Val(human)
CTD PMID:17448989, PMID:24122823 RGD:14695057 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:142,702,721...142,722,350
Ensembl chr 5:142,702,685...142,722,341
JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:145,079,803...145,088,517
Ensembl chr 5:145,079,803...145,088,498
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16204638 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19720090 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:14,080,562...14,095,644
Ensembl chr20:14,080,565...14,095,181
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
G Srf serum response factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:75,334,200...75,341,197
Ensembl chr10:75,335,146...75,341,197
JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:47,039,714...47,046,022
Ensembl chr12:47,039,716...47,046,022
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO mRNA:increased expression:multiple tissues (human) RGD PMID:24367701 RGD:39128218 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
G Taf9 TATA-box binding protein associated factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:30,664,407...30,668,414
Ensembl chr 2:30,664,639...30,668,414
JBrowse link
G Tlr3 toll-like receptor 3 susceptibility ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:21911422, PMID:22174453, PMID:24033266 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8811349 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Trim5 tripartite motif-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:15249687 NCBI chr 1:169,446,774...169,463,760
Ensembl chr 1:169,446,805...169,534,896
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554
JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:27284313 RGD:38456006 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A ISO mRNA:increased expression:conjunctiva (human) RGD PMID:21911461 RGD:9068420 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian) RGD PMID:18824733 RGD:7364877
G Tnf tumor necrosis factor ISO DNA:SNP, haplotypes:promoter:−308G>A (human) RGD PMID:17330135 RGD:8548830 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease by infectious agent 1774
      viral infectious disease 1466
        Sexually Transmitted Diseases 205
          Bacterial Sexually Transmitted Diseases + 13
          Viral Sexually Transmitted Diseases + 200
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              Sexually Transmitted Diseases 205
                Bacterial Sexually Transmitted Diseases + 13
                Viral Sexually Transmitted Diseases + 200
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.