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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:human immunodeficiency virus infectious disease
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Accession:DOID:526 term browser browse the term
Definition:Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).
Synonyms:exact_synonym: HIV Infection;   HIV Infections;   HTLV III Infections;   HTLV III LAV Infections;   HTLV-III Infection;   HTLV-III-LAV Infection;   HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO;   T Lymphotropic Virus Type III Infections, Human
 narrow_synonym: Congenital human immunodeficiency virus;   HIV-1 viremia, susceptibility to;   HIV-1, RESISTANCE TO;   HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO;   HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, DELAYED DISEASE PROGRESSION WITH INFECTION BY;   HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF;   HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID DISEASE PROGRESSION WITH INFECTION BY;   HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS
 related_synonym: CCR5 PROMOTER POLYMORPHISM
 primary_id: MESH:D015658;   RDO:0004716
 alt_id: OMIM:609423
 xref: ICD10CM:B20;   ICD9CM:042-042.99;   NCI:C3108
For additional species annotation, visit the Alliance of Genome Resources.


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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, sub-family B (MDR/TAP), member 1A treatment
severity
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 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Abcb1b ATP-binding cassette, sub-family B (MDR/TAP), member 1B ISO mRNA:decreased expression, increased expression:brain, kidney (rat) RGD PMID:16790532, PMID:24472536 RGD:1598562, RGD:11041168 NCBI chr 5:8,798,147...8,866,314
Ensembl chr 5:8,798,147...8,866,315
JBrowse link
G Abce1 ATP-binding cassette, sub-family E (OABP), member 1 ISO DNA:mutations:multiple (human) RGD PMID:19657357 RGD:11041871 NCBI chr 8:79,683,442...79,711,740
Ensembl chr 8:79,683,462...79,711,740
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16903978 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:120,594,504...120,598,399
Ensembl chr11:120,592,121...120,598,365
JBrowse link
G Apoa1 apolipoprotein A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:12646808 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:37,972,623...37,999,531
Ensembl chr18:37,972,628...37,998,969
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr  X:73,894,352...73,911,345
Ensembl chr  X:73,891,442...73,921,870
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor (GDI) alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:120,578,099...120,581,624
Ensembl chr11:120,578,104...120,581,624
JBrowse link
G Arhgdib Rho, GDP dissociation inhibitor (GDI) beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:136,923,655...136,941,899
Ensembl chr 6:136,923,655...136,941,899
JBrowse link
G Atm ataxia telangiectasia mutated ISO protein:decreased expression:T cell (human) RGD PMID:31781094 RGD:126790561 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Bag3 BCL2-associated athanogene 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187345 NCBI chr 7:128,523,583...128,546,981
Ensembl chr 7:128,523,616...128,546,981
JBrowse link
G Bax BCL2-associated X protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 9:7,818,226...7,837,131
Ensembl chr 9:7,818,227...7,837,064
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 9:7,847,468...7,873,205
Ensembl chr 9:7,848,699...7,873,186
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 chr 8:71,534,255...71,537,472
Ensembl chr 8:71,534,255...71,537,456
JBrowse link
G C3 complement component 3 ISO RGD PMID:7561187 RGD:11040775 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Ccl11 chemokine (C-C motif) 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 chr11:82,057,832...82,062,955
Ensembl chr11:82,057,823...82,062,955
JBrowse link
G Ccl2 chemokine (C-C motif) 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 chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl3 chemokine (C-C motif) ligand 3 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr11:83,647,843...83,649,378
Ensembl chr11:83,647,844...83,649,355
JBrowse link
G Ccl4 chemokine (C-C motif) ligand 4 susceptibility ISO RGD PMID:16250882 RGD:5683897 NCBI chr11:83,648,624...83,664,683
Ensembl chr11:83,662,584...83,664,683
JBrowse link
G Ccl5 chemokine (C-C motif) 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 chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Ccr2 chemokine (C-C motif) receptor 2 ISO ClinVar Annotator: match by synonym: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO ClinVar PMID:9252328 PMID:9662369 NCBI chr 9:124,101,918...124,109,140
Ensembl chr 9:124,101,950...124,113,557
JBrowse link
G Ccr3 chemokine (C-C motif) receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10202824 NCBI chr 9:124,017,825...124,031,692
Ensembl chr 9:124,021,972...124,031,689
JBrowse link
G Ccr5 chemokine (C-C motif) 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 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cct3 chaperonin containing Tcp1, subunit 3 (gamma) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:88,297,135...88,321,766
Ensembl chr 3:88,297,116...88,321,767
JBrowse link
G Cct5 chaperonin containing Tcp1, subunit 5 (epsilon) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:31,590,800...31,601,846
Ensembl chr15:31,590,800...31,601,804
JBrowse link
G Cct7 chaperonin containing Tcp1, subunit 7 (eta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:85,451,505...85,468,477
Ensembl chr 6:85,451,514...85,468,475
JBrowse link
G Cd274 CD274 antigen ISO RGD PMID:30161254, PMID:30236481 RGD:41412179, RGD:41412181 NCBI chr19:29,362,107...29,388,095
Ensembl chr19:29,367,455...29,388,095
JBrowse link
G Cd28 CD28 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:7492435 NCBI chr 1:60,746,388...60,773,359
Ensembl chr 1:60,716,800...60,773,359
JBrowse link
G Cd40 CD40 antigen ISO protein:increased expression:plasmacytoid dendritic cell RGD PMID:20559432 RGD:5490533 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21177803 RGD:5490598 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd68 CD68 antigen disease_progression ISO associated with opioid use;protein:increased expression:brain (human) RGD PMID:22797933 RGD:41404655 NCBI chr11:69,664,213...69,666,170
Ensembl chr11:69,664,213...69,666,153
JBrowse link
G Cd8a CD8 antigen, alpha chain treatment ISO RGD PMID:29384862 RGD:124715453 NCBI chr 6:71,373,427...71,379,171
Ensembl chr 6:71,373,427...71,379,173
JBrowse link
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:137,319,696...137,357,759
Ensembl chr 4:137,319,696...137,357,720
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:35,050,243...35,058,719
Ensembl chr17:35,049,966...35,058,749
JBrowse link
G Cops6 COP9 signalosome subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:138,161,102...138,163,984
Ensembl chr 5:138,161,071...138,164,646
JBrowse link
G Crp C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:22448211 RGD:6482303 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 susceptibility 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 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link
G Cxcl10 chemokine (C-X-C motif) ligand 10 ISO protein:increased expression:plasma RGD PMID:27246604 RGD:14995461 NCBI chr 5:92,346,638...92,348,889
Ensembl chr 5:92,346,638...92,348,889
JBrowse link
G Cxcl12 chemokine (C-X-C motif) ligand 12 susceptibility ISO ClinVar Annotator: match by OMIM:609423
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9430590 NCBI chr 6:117,168,535...117,181,368
Ensembl chr 6:117,168,535...117,181,367
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO associated with pleural tuberculosis; RGD PMID:21303360 RGD:36947878 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Cxcr1 chemokine (C-X-C motif) receptor 1 susceptibility 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 1:74,191,785...74,194,708
Ensembl chr 1:74,191,785...74,194,631
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 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 7:25,897,658...25,926,624
Ensembl chr 7:25,897,620...25,926,624
JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:100,582,818...100,620,292
Ensembl chr11:100,582,818...100,620,168
Ensembl chr11:100,582,818...100,620,168
JBrowse link
G Eif3b eukaryotic translation initiation factor 3, subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:140,419,305...140,443,358
Ensembl chr 5:140,419,328...140,443,360
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:69,666,936...69,672,423
Ensembl chr11:69,666,936...69,672,423
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:27,260,327...27,275,656
Ensembl chr 8:27,260,329...27,276,674
JBrowse link
G Eif6 eukaryotic translation initiation factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:155,819,837...155,826,925
Ensembl chr 2:155,819,832...155,826,925
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:124,704,370...124,712,186
Ensembl chr 6:124,704,085...124,712,178
JBrowse link
G Ephb2 Eph receptor B2 ISO mRNA:decreased expression:Anterior cingulate RGD PMID:23314923 RGD:127285026 NCBI chr 4:136,647,536...136,836,326
Ensembl chr 4:136,647,539...136,835,988
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO RGD PMID:10200468 RGD:11049451 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fcer2a Fc receptor, IgE, low affinity II, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:11500085 NCBI chr 8:3,680,280...3,694,174
Ensembl chr 8:3,681,737...3,694,175
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:21187939 RGD:5508390 NCBI chr 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible 45 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:67,035,096...67,037,407
Ensembl chr 6:67,035,096...67,037,457
JBrowse link
G Gc vitamin D binding protein disease_progression ISO RGD PMID:2883392 RGD:5509934 NCBI chr 5:89,417,511...89,457,898
Ensembl chr 5:89,417,522...89,457,898
JBrowse link
G Grpel1 GrpE-like 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:36,465,185...36,474,077
Ensembl chr 5:36,464,998...36,474,080
JBrowse link
G Gtf3a general transcription factor III A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:146,948,657...146,955,614
Ensembl chr 5:146,948,657...146,955,614
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO DNA:polymorphisms (human) RGD PMID:18427198 RGD:5147817 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)
RGD PMID:20345872, PMID:18427198 RGD:5147659, RGD:5147817 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Ea histocompatibility 2, class II antigen E alpha ISO RGD PMID:21427211 RGD:5490157 NCBI chr17:34,341,952...34,344,645
Ensembl chr17:34,341,959...34,344,645
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta 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 chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
CTD
RGD
PMID:17496894 PMID:28244954 RGD:40903000 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G Hdgf heparin binding growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:87,906,090...87,916,132
Ensembl chr 3:87,906,321...87,916,132
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Hsp90aa1 heat shock protein 90, alpha (cytosolic), class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:110,691,036...110,696,395
Ensembl chr12:110,690,605...110,702,728
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha (cytosolic), class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:45,567,778...45,573,261
Ensembl chr17:45,567,775...45,573,271
JBrowse link
G Hspa9 heat shock protein 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:34,937,414...34,954,351
Ensembl chr18:34,937,414...34,954,357
JBrowse link
G Hspb1 heat shock protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 5:135,887,919...135,889,563
Ensembl chr 5:135,887,919...135,889,563
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Hsph1 heat shock 105kDa/110kDa protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:149,616,843...149,636,498
Ensembl chr 5:149,614,287...149,636,376
JBrowse link
G Ifng interferon gamma susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10202824 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
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 chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il15 interleukin 15 ISO protein:decreased expression:plasma RGD PMID:20028198 RGD:4892672 NCBI chr 8:82,331,624...82,403,252
Ensembl chr 8:82,331,632...82,403,222
JBrowse link
G Il17d interleukin 17D severity ISO Protein:increased expression:blood plasma (human) RGD PMID:28592538 RGD:40903074 NCBI chr14:57,524,829...57,543,166
Ensembl chr14:57,524,777...57,543,166
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 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
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 chr 1:130,932,656...130,945,457
Ensembl chr 1:130,932,656...130,940,115
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il21 interleukin 21 ISO associated with hepatitis B;protein:decreased expression:blood serum (human) RGD PMID:22948268 RGD:127285366 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22530560 RGD:6892924 NCBI chr 7:125,603,252...125,634,397
Ensembl chr 7:125,603,429...125,633,570
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 7:126,589,009...126,595,035
Ensembl chr 7:126,589,010...126,594,941
JBrowse link
G Il2ra interleukin 2 receptor, alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 2:11,642,792...11,693,194
Ensembl chr 2:11,642,807...11,693,193
JBrowse link
G Il4ra interleukin 4 receptor, alpha susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 7:125,552,271...125,579,474
Ensembl chr 7:125,552,120...125,579,474
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:90,476,201...90,488,379
Ensembl chr 3:90,476,126...90,488,379
JBrowse link
G Ipo7 importin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:110,018,315...110,056,609
Ensembl chr 7:110,018,274...110,056,609
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  X:136,517,999...136,534,306
Ensembl chr  X:136,517,999...136,534,309
JBrowse link
G Kmt2e lysine (K)-specific methyltransferase 2E ISO protein:increased expression:peripheral blood, T cell, CD4+ (human) RGD PMID:16046540 RGD:9588555 NCBI chr 5:23,433,036...23,504,235
Ensembl chr 5:23,434,441...23,504,235
JBrowse link
G Kpnb1 karyopherin (importin) beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:97,159,710...97,187,892
Ensembl chr11:97,159,714...97,187,881
JBrowse link
G Lck lymphocyte protein tyrosine kinase ISO protein:increased tyrosine phosphorylation:T cell RGD PMID:16828835 RGD:1600221 NCBI chr 4:129,548,344...129,573,641
Ensembl chr 4:129,548,344...129,573,641
JBrowse link
G Lepr leptin receptor ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:12100031 RGD:21079471 NCBI chr 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:3,678,068...3,791,612
Ensembl chr 4:3,678,115...3,813,122
JBrowse link
G Map2 microtubule-associated protein 2 IDA RGD PMID:19966940 RGD:6483319 NCBI chr 1:66,175,202...66,442,583
Ensembl chr 1:66,175,273...66,442,583
JBrowse link
G Maz MYC-associated zinc finger protein (purine-binding transcription factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:127,021,450...127,027,188
Ensembl chr 7:127,022,130...127,027,037
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 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 chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr10:117,688,875...117,710,758
Ensembl chr10:117,688,875...117,710,758
JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO RGD PMID:21576701 RGD:6483531 NCBI chr 7:135,689,784...135,716,450
Ensembl chr 7:135,689,784...135,716,361
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 chr 8:71,542,907...71,548,026
Ensembl chr 8:71,542,922...71,548,085
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle IEP protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Nefl neurofilament, light polypeptide treatment ISO RGD PMID:30005007 RGD:127285390 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Nefm neurofilament, medium polypeptide ISO protein:increased serine/threonine phosphorylation:brain RGD PMID:26033855 RGD:40886309 NCBI chr14:68,119,545...68,125,004
Ensembl chr14:68,082,590...68,124,846
JBrowse link
G Nup88 nucleoporin 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:70,943,058...70,969,973
Ensembl chr11:70,943,058...70,969,973
JBrowse link
G Nutf2 nuclear transport factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:105,860,533...105,880,402
Ensembl chr 8:105,860,580...105,879,330
Ensembl chr19:105,860,580...105,879,330
JBrowse link
G Odc1 ornithine decarboxylase, structural 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:17,544,808...17,551,502
Ensembl chr12:17,544,794...17,551,505
JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 6:113,326,972...113,334,877
Ensembl chr 6:113,326,972...113,335,068
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO mRNA:increased expression:macrophage RGD PMID:17553897 RGD:2316609 NCBI chr10:6,758,593...7,038,209
Ensembl chr10:6,758,506...7,038,198
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:30161254 RGD:41412179 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
G Pla2g2a phospholipase A2, group IIA (platelets, synovial fluid) ISO RGD PMID:18096355 RGD:6482728 NCBI chr 4:138,831,857...138,835,189
Ensembl chr 4:138,831,857...138,835,186
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 7:24,460,937...24,475,970
Ensembl chr 7:24,462,484...24,475,968
JBrowse link
G Ppib peptidylprolyl isomerase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:66,060,169...66,066,629
Ensembl chr 9:66,060,222...66,066,623
JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO DNA:SNP: :rs885822 (human) RGD PMID:20523897, PMID:21157294 RGD:6482808, RGD:6482819 NCBI chr10:61,297,751...61,304,684
Ensembl chr10:61,297,833...61,304,680
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:75,486,777...75,509,447
Ensembl chr11:75,486,816...75,509,449
JBrowse link
G Psma4 proteasome subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:54,950,781...54,958,034
Ensembl chr 9:54,950,790...54,958,030
JBrowse link
G Psma5 proteasome subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:108,256,926...108,279,952
Ensembl chr 3:108,256,926...108,279,974
JBrowse link
G Psma6 proteasome subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:55,384,222...55,418,459
Ensembl chr12:55,384,222...55,418,454
JBrowse link
G Psmb10 proteasome (prosome, macropain) subunit, beta type 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:105,935,728...105,938,392
Ensembl chr 8:105,935,735...105,938,444
JBrowse link
G Psmb4 proteasome (prosome, macropain) subunit, beta type 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:94,884,324...94,886,958
Ensembl chr 3:94,884,093...94,886,961
JBrowse link
G Psmc3 proteasome (prosome, macropain) 26S subunit, ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:91,054,016...91,059,438
Ensembl chr 2:91,054,009...91,066,369
JBrowse link
G Psmc5 protease (prosome, macropain) 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:106,256,185...106,263,112
Ensembl chr11:106,256,154...106,263,120
JBrowse link
G Psmd13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:140,882,394...140,898,642
Ensembl chr 7:140,881,968...140,898,643
JBrowse link
G Psmd3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:98,682,554...98,695,978
Ensembl chr11:98,682,554...98,695,979
JBrowse link
G Psmd6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:14,112,185...14,120,945
Ensembl chr14:14,112,174...14,120,984
JBrowse link
G Psmd8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:29,174,187...29,180,673
Ensembl chr 7:29,174,188...29,180,701
JBrowse link
G Psme1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:55,578,494...55,581,527
Ensembl chr14:55,578,123...55,581,529
JBrowse link
G Psme2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:55,587,440...55,591,101
Ensembl chr14:55,587,441...55,591,113
JBrowse link
G Psme3 proteaseome (prosome, macropain) activator subunit 3 (PA28 gamma, Ki) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:101,316,213...101,323,537
Ensembl chr11:101,316,213...101,323,537
JBrowse link
G Psme4 proteasome (prosome, macropain) activator subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:30,771,775...30,881,150
Ensembl chr11:30,771,726...30,880,361
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:brain RGD PMID:21846384 RGD:5508195 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Rab11b RAB11B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:33,742,484...33,760,486
Ensembl chr17:33,742,484...33,760,530
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:10,545,039...10,558,207
Ensembl chr10:10,545,002...10,558,265
JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:129,020,156...129,024,322
Ensembl chr 5:129,020,069...129,024,323
JBrowse link
G Ranbp1 RAN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:18,239,979...18,248,694
Ensembl chr16:18,239,784...18,248,732
JBrowse link
G Selp selectin, platelet ISO RGD PMID:22156911 RGD:6218986 NCBI chr 1:164,115,264...164,150,026
Ensembl chr 1:164,115,264...164,150,026
JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:124,714,861...124,732,423
Ensembl chr 4:124,714,776...124,732,460
JBrowse link
G Sfpq splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:127,020,716...127,051,101
Ensembl chr 4:127,021,324...127,037,013
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16204638 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19720090 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 1:74,375,014...74,386,057
Ensembl chr 1:74,375,195...74,386,062
JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:75,518,042...75,535,440
Ensembl chr10:75,517,551...75,537,381
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr16:10,783,808...10,785,536
Ensembl chr16:10,782,240...10,785,536
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr11:117,966,079...117,970,336
Ensembl chr11:117,966,079...117,970,047
JBrowse link
G Srf serum response factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:46,546,838...46,558,267
Ensembl chr17:46,548,329...46,556,175
JBrowse link
G Srsf1 serine and arginine-rich splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:88,046,499...88,053,757
Ensembl chr11:88,047,373...88,053,755
JBrowse link
G Srsf9 serine and arginine-rich splicing factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:115,327,163...115,333,843
Ensembl chr 5:115,327,177...115,333,080
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO mRNA:increased expression:multiple tissues (human) RGD PMID:24367701 RGD:39128218 NCBI chr18:35,733,678...35,740,554
Ensembl chr18:35,733,679...35,740,554
JBrowse link
G Taf9 TATA-box binding protein associated factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr13:100,651,343...100,656,060
Ensembl chr13:100,651,579...100,656,060
Ensembl chr13:100,651,579...100,656,060
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 chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8811349 NCBI chr 4:145,267,132...145,315,164
Ensembl chr 4:145,267,137...145,315,164
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 chr17:48,232,713...48,246,927
Ensembl chr17:48,232,768...48,246,924
JBrowse link
G Trim5 tripartite motif-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:15249687 NCBI chr 7:104,263,386...104,288,254
Ensembl chr 7:104,263,386...104,288,094
JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:31,647,081...31,659,148
Ensembl chr17:31,647,081...31,658,892
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:108,792,945...108,820,148
Ensembl chr12:108,792,973...108,820,148
JBrowse link
acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), 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 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr 8:71,534,255...71,537,472
Ensembl chr 8:71,534,255...71,537,456
JBrowse link
G Ccl4 chemokine (C-C motif) ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr11:83,648,624...83,664,683
Ensembl chr11:83,662,584...83,664,683
JBrowse link
G Ccr5 chemokine (C-C motif) receptor 5 ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 NCBI chr 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cd209d CD209d antigen disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr 8:3,871,824...3,878,548
Ensembl chr 8:3,871,824...3,878,555
JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:9499800 RGD:11344976 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr17:35,320,525...35,328,142
Ensembl chr17:35,320,405...35,325,099
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 chr 8:24,584,133...24,596,952
Ensembl chr 8:24,584,136...24,597,009
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 chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il4ra interleukin 4 receptor, alpha 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 7:125,552,271...125,579,474
Ensembl chr 7:125,552,120...125,579,474
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  X:136,517,999...136,534,306
Ensembl chr  X:136,517,999...136,534,309
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 7:4,337,715...4,345,184
Ensembl chr 7:4,337,724...4,345,164
JBrowse link
G Ncr3-ps natural cytotoxicity triggering receptor 3, pseudogene ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr17:35,180,536...35,184,809
Ensembl chr17:35,180,535...35,184,662
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO RGD PMID:8548330 RGD:12904035 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenergic receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Gc vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr 5:89,417,511...89,457,898
Ensembl chr 5:89,417,522...89,457,898
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 1:82,233,105...82,291,439
Ensembl chr 1:82,233,112...82,235,933
Ensembl chr 1:82,233,112...82,235,933
JBrowse link
G Nefl neurofilament, light polypeptide 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 chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 6:49,822,710...49,829,507
Ensembl chr 6:49,822,710...49,829,507
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr10:6,758,593...7,038,209
Ensembl chr10:6,758,506...7,038,198
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO RGD PMID:21368226 RGD:6482787 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 IMP RGD PMID:25404050 RGD:38676266 NCBI chr11:76,998,597...77,032,343
Ensembl chr11:76,998,603...77,032,340
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 IMP RGD PMID:2 RGD:1303381 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IDA RGD PMID:2 RGD:1303381 NCBI chr  X:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 3:129,677,574...129,755,322
Ensembl chr 3:129,677,565...129,755,316
JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP
ISO
RGD PMID:23678040, PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Notch4 notch 4 ISO protein: increased expression: kidney RGD PMID:20706108, PMID:20706108 RGD:6480788, RGD:6480788 NCBI chr17:34,564,286...34,588,543
Ensembl chr17:34,564,268...34,588,503
JBrowse link
G Nphs1 nephrosis 1, nephrin treatment IEP RGD PMID:19188342, PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 7:30,458,207...30,488,623
Ensembl chr 7:30,458,315...30,487,223
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 subfamily K, member 1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr 6:129,610,323...129,623,903
Ensembl chr 6:129,610,323...129,623,864
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
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 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr 6:124,864,693...124,888,247
Ensembl chr 6:124,864,692...124,888,221
JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 4:145,267,132...145,315,164
Ensembl chr 4:145,267,137...145,315,164
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 chemokine (C-C motif) ligand 2 ISO ClinVar Annotator: match by null ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
HIV Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta (A4) precursor protein ISO RGD PMID:29632166 RGD:13782045 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
JBrowse link
G Bace1 beta-site APP cleaving enzyme 1 ISO RGD PMID:29632166 RGD:13782045 NCBI chr 9:45,838,545...45,862,484
Ensembl chr 9:45,838,580...45,864,399
JBrowse link
G Cd68 CD68 antigen ISO protein:increased expression:brain (human) RGD PMID:15488024 RGD:40925943 NCBI chr11:69,664,213...69,666,170
Ensembl chr11:69,664,213...69,666,153
JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO protein:increased tyrosine phosphorylation:hippocampus RGD PMID:28107387 RGD:13506927 NCBI chr 5:24,407,597...24,423,587
Ensembl chr 5:24,418,241...24,423,530
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 3:32,529,443...32,579,225
Ensembl chr 3:32,529,465...32,579,239
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO RGD PMID:15579294 RGD:40902823 NCBI chr16:91,225,550...91,228,677
Ensembl chr16:91,225,457...91,228,677
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 chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Aph1b aph1 homolog B, gamma secretase subunit susceptibility ISO DNA:SNP:CDS:p.F217L (rs1047552) (human) RGD PMID:19774691 RGD:13703126 NCBI chr 9:66,775,202...66,797,345
Ensembl chr 9:66,775,202...66,795,490
JBrowse link
G Cd209b CD209b antigen susceptibility ISO DNA:repeats:exon 4
DNA:repeat:
RGD PMID:25656622, PMID:20217198, PMID:16453266 RGD:11520989, RGD:39938989, RGD:39938979 NCBI chr 8:3,917,655...3,926,841
Ensembl chr 8:3,917,655...3,926,844
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:20224785 RGD:5147578 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 ISO protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27091211 RGD:40818300 NCBI chr 6:129,610,323...129,623,903
Ensembl chr 6:129,610,323...129,623,864
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 7:4,337,715...4,345,184
Ensembl chr 7:4,337,724...4,345,164
JBrowse link
G Nefl neurofilament, light polypeptide treatment ISO RGD PMID:30105502 RGD:127284876 NCBI chr14:68,083,863...68,089,095
Ensembl chr14:68,083,863...68,089,095
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
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 chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Adrb3 adrenergic receptor, beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr 8:27,225,776...27,230,845
Ensembl chr 8:27,225,776...27,250,616
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 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Lmna lamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 4:121,059,237...121,098,249
Ensembl chr 4:121,059,237...121,098,241
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14439
    syndrome 7535
      primary immunodeficiency disease 2398
        human immunodeficiency virus infectious disease 196
          Acute Retroviral Syndrome 0
          Coronary Artery Disease, Development of, in HIV 1
          HIV Encephalitis 6
          HIV Enteropathy 0
          HIV Seropositivity 7
          HIV Wasting Syndrome 4
          HIV-Associated Lipodystrophy Syndrome 7
          acquired immunodeficiency syndrome + 43
          diffuse infiltrative lymphocytosis syndrome 0
Path 2
Term Annotations click to browse term
  disease 14439
    disease of anatomical entity 14033
      Urogenital Diseases 3996
        Female Urogenital Diseases and Pregnancy Complications 2009
          Female Urogenital Diseases 1714
            female reproductive system disease 1710
              Sexually Transmitted Diseases 227
                Viral Sexually Transmitted Diseases 219
                  human immunodeficiency virus infectious disease 196
                    Acute Retroviral Syndrome 0
                    Coronary Artery Disease, Development of, in HIV 1
                    HIV Encephalitis 6
                    HIV Enteropathy 0
                    HIV Seropositivity 7
                    HIV Wasting Syndrome 4
                    HIV-Associated Lipodystrophy Syndrome 7
                    acquired immunodeficiency syndrome + 43
                    diffuse infiltrative lymphocytosis syndrome 0
paths to the root