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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.


show annotations for term's descendants           Sort by:
 
human immunodeficiency virus infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 treatment
severity
ISO
IAGP
IEP
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 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ABCE1 ATP binding cassette subfamily E member 1 IAGP DNA:mutations:multiple (human) RGD PMID:19657357 RGD:11041871 NCBI chr 4:145,098,311...145,129,524
Ensembl chr 4:145,098,288...145,129,524
JBrowse link
G ADRB2 adrenoceptor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16903978 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALYREF Aly/REF export factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:81,887,835...81,891,587
Ensembl chr17:81,887,835...81,891,586
JBrowse link
G APOA1 apolipoprotein A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12646808 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:141,653,401...141,682,230
Ensembl chr 5:141,653,401...141,682,230
JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:81,867,719...81,871,337
Ensembl chr17:81,867,721...81,871,378
JBrowse link
G ARHGDIB Rho GDP dissociation inhibitor beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:14,942,015...14,961,601
Ensembl chr12:14,942,031...14,961,728
JBrowse link
G ATM ATM serine/threonine kinase IEP protein:decreased expression:T cell (human) RGD PMID:31781094 RGD:126790561 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G BAG3 BAG cochaperone 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17187345 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
JBrowse link
G BAX BCL2 associated X, apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr11:102,317,373...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G BISPR BST2 interferon stimulated positive regulator IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr19:17,405,686...17,415,736
Ensembl chr19:17,405,686...17,419,324
JBrowse link
G BST2 bone marrow stromal cell antigen 2 IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
JBrowse link
G C3 complement C3 IEP RGD PMID:7561187 RGD:11040775 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCL11 C-C motif chemokine ligand 11 susceptibility IAGP
IEP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14571188, PMID:27246604 RGD:14995461 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
IEP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14571188, PMID:27246604 RGD:14995461 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL3 C-C motif chemokine ligand 3 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCL3L1 C-C motif chemokine ligand 3 like 1 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
Ensembl chr17:36,194,869...36,196,758 JBrowse link
G CCL4 C-C motif chemokine ligand 4 susceptibility IEP RGD PMID:16250882 RGD:5683897 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCL4L2 C-C motif chemokine ligand 4 like 2 disease_progression IAGP RGD PMID:19279442 RGD:41404638 NCBI chr17:36,211,063...36,212,873
Ensembl chr17:36,210,924...36,212,878
JBrowse link
G CCL5 C-C motif chemokine ligand 5 IAGP 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 chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCR2 C-C motif chemokine receptor 2 IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:9252328 PMID:9662369 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR3 C-C motif chemokine receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10202824 NCBI chr 3:46,210,699...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IEP
IAGP
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 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 3:46,370,142...46,376,206
Ensembl chr 3:46,370,854...46,376,206
JBrowse link
G CCR5AS CCR5 antisense RNA IAGP 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 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 NCBI chr 3:46,364,660...46,407,059
Ensembl chr 3:46,364,955...46,407,059
JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:156,308,968...156,338,292
Ensembl chr 1:156,308,968...156,367,873
JBrowse link
G CCT5 chaperonin containing TCP1 subunit 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:73,233,425...73,253,008
Ensembl chr 2:73,233,420...73,253,021
JBrowse link
G CD209 CD209 molecule susceptibility IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15564514 PMID:15838506 PMID:16379498 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CD274 CD274 molecule IEP RGD PMID:30161254, PMID:30236481 RGD:41412179, RGD:41412181 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
JBrowse link
G CD28 CD28 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:7492435 NCBI chr 2:203,706,509...203,739,756
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD40 CD40 molecule IEP protein:increased expression:plasmacytoid dendritic cell RGD PMID:20559432 RGD:5490533 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand IDA RGD PMID:21177803 RGD:5490598 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD68 CD68 molecule disease_progression IEP associated with opioid use;protein:increased expression:brain (human) RGD PMID:22797933 RGD:41404655 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CD8A CD8a molecule treatment HEP RGD PMID:29384862 RGD:124715453 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CDC42 cell division cycle 42 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,025,511...22,101,360
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CLIC1 chloride intracellular channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763
JBrowse link
G COPS6 COP9 signalosome subunit 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:100,088,969...100,092,187
Ensembl chr 7:100,088,969...100,092,187
JBrowse link
G CRP C-reactive protein disease_progression IDA RGD PMID:22448211 RGD:6482303 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 3:39,263,494...39,281,735
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:plasma RGD PMID:27246604 RGD:14995461 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9430590 NCBI chr10:44,292,088...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IEP associated with pleural tuberculosis; RGD PMID:21303360 RGD:36947878 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 treatment IAGP DNA:haplotype: :CYP2B6*6(human)
DNA:SNPs: :516G>T,983T>C (human)
RGD PMID:21862974, PMID:18281305 RGD:11098366, RGD:11097175 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
JBrowse link
G DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:41,976,427...42,021,371
Ensembl chr17:41,976,421...42,021,376
JBrowse link
G EIF3B eukaryotic translation initiation factor 3 subunit B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:2,354,086...2,380,745
Ensembl chr 7:2,354,086...2,380,745
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:7,572,825...7,579,006
Ensembl chr17:7,572,824...7,579,006
JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:38,030,534...38,060,365
Ensembl chr 8:38,030,534...38,060,365
JBrowse link
G EIF6 eukaryotic translation initiation factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:35,278,906...35,284,772
Ensembl chr20:35,278,907...35,284,985
JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,997,428
JBrowse link
G FAS Fas cell surface death receptor IDA RGD PMID:10200468 RGD:11049451 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FCER2 Fc fragment of IgE receptor II EXP CTD Direct Evidence: marker/mechanism CTD PMID:11500085 NCBI chr19:7,688,759...7,702,755
Ensembl chr19:7,688,758...7,702,146
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility IAGP DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:21187939 RGD:5508390 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G GADD45A growth arrest and DNA damage inducible alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 1:67,685,201...67,688,334
Ensembl chr 1:67,685,201...67,688,334
JBrowse link
G GC GC vitamin D binding protein disease_progression IAGP RGD PMID:2883392 RGD:5509934 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G GRPEL1 GrpE like 1, mitochondrial EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:7,058,895...7,068,064
Ensembl chr 4:7,058,895...7,068,064
JBrowse link
G GTF3A general transcription factor IIIA EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr13:27,424,619...27,435,823
Ensembl chr13:27,424,619...27,435,823
JBrowse link
G HDGF heparin binding growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:156,742,107...156,752,448
Ensembl chr 1:156,742,109...156,766,925
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
CTD PMID:17496894, PMID:28244954 RGD:40903000 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,357,188
JBrowse link
G HLA-C major histocompatibility complex, class I, C susceptibility IAGP
EXP
ClinVar Annotator: match by term: Hiv-1 viremia, susceptibility to
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:19935663, PMID:28244954 RGD:40903000 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms (human) RGD PMID:18427198 RGD:5147817 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)
RGD PMID:20345872, PMID:18427198 RGD:5147659, RGD:5147817 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha IEP RGD PMID:21427211 RGD:5490157 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 disease_progression
susceptibility
IAGP DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
DNA:polymorphisms: :multiple (human)
RGD PMID:21257739, PMID:28244954, PMID:20345872 RGD:5147591, RGD:40903000, RGD:5147659 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G HP haptoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G HSPH1 heat shock protein family H (Hsp110) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr13:31,134,973...31,162,388
Ensembl chr13:31,134,973...31,162,388
JBrowse link
G IFNG interferon gamma susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10202824 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL10 interleukin 10 treatment
susceptibility
IEP
IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM
CTD
ClinVar
PMID:10202824 PMID:11121048 PMID:14657422 PMID:14657427, PMID:10666520 RGD:7365087 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL15 interleukin 15 IEP protein:decreased expression:plasma RGD PMID:20028198 RGD:4892672 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
JBrowse link
G IL17D interleukin 17D severity HEP Protein:increased expression:blood plasma (human) RGD PMID:28592538 RGD:40903074 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
JBrowse link
G IL18 interleukin 18 treatment IEP associated with hepatitis C; protein:increased expression:serum: RGD PMID:27927859, PMID:27927859 RGD:14696653, RGD:14696653 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:11121048 PMID:14657422 PMID:14657427 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,979
JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21R interleukin 21 receptor IDA RGD PMID:22530560 RGD:6892924 NCBI chr16:27,402,162...27,452,043
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL27 interleukin 27 ameliorates IEP 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 chr16:28,499,362...28,526,730
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL4R interleukin 4 receptor susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr16:27,313,668...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ILF2 interleukin enhancer binding factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:153,661,788...153,670,993
Ensembl chr 1:153,661,788...153,671,028
JBrowse link
G IPO7 importin 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:9,384,652...9,448,127
Ensembl chr11:9,384,652...9,448,127
JBrowse link
G KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds
CTD
OMIM
PMID:17496894, PMID:31863692 RGD:38676444 NCBI chr19:54,816,438...54,830,778
Ensembl chr19:54,816,468...54,830,778
JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IEP protein:increased expression:peripheral blood, T cell, CD4+ (human) RGD PMID:16046540 RGD:9588555 NCBI chr 7:104,940,949...105,115,019
Ensembl chr 7:105,014,190...105,115,019
JBrowse link
G KPNB1 karyopherin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:47,649,919...47,685,505
Ensembl chr17:47,649,476...47,685,505
JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase ISO protein:increased tyrosine phosphorylation:T cell RGD PMID:16828835 RGD:1600221 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,239...32,286,165
JBrowse link
G LEPR leptin receptor IEP protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:12100031 RGD:21079471 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:55,876,041...56,014,169
Ensembl chr 8:55,879,835...56,014,169
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:19966940 RGD:6483319 NCBI chr 2:209,424,047...209,734,118
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G MAZ MYC associated zinc finger protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:29,806,081...29,811,171
Ensembl chr16:29,806,106...29,811,164
JBrowse link
G MBL2 mannose binding lectin 2 severity
no_association
IAGP
EXP
DNA:polymorphism:exon:
CTD Direct Evidence: marker/mechanism
CTD PMID:16960176, PMID:19796822, PMID:26348711 RGD:12910857, RGD:12910931 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MDM2 MDM2 proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MKI67 marker of proliferation Ki-67 IDA RGD PMID:21576701 RGD:6483531 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MVB12A multivesicular body subunit 12A IAGP ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr19:17,405,741...17,425,332
Ensembl chr19:17,405,722...17,433,724
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,387,967
JBrowse link
G NEFM neurofilament medium chain IDA protein:increased serine/threonine phosphorylation:brain RGD PMID:26033855 RGD:40886309 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
JBrowse link
G NUP88 nucleoporin 88 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,360,963...5,419,676
JBrowse link
G NUTF2 nuclear transport factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:67,846,933...67,872,567
Ensembl chr16:67,846,923...67,872,567
JBrowse link
G ODC1 ornithine decarboxylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G OPRM1 opioid receptor mu 1 ISO mRNA:increased expression:macrophage RGD PMID:17553897 RGD:2316609 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
JBrowse link
G PDCD1 programmed cell death 1 IEP RGD PMID:30161254 RGD:41412179 NCBI chr 2:241,849,881...241,858,908
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PLA2G2A phospholipase A2 group IIA IAGP RGD PMID:18096355 RGD:6482728 NCBI chr 1:19,975,431...19,980,434
Ensembl chr 1:19,975,431...19,980,416
JBrowse link
G PLAUR plasminogen activator, urokinase receptor disease_progression IEP protein:increased expression:plasma RGD PMID:21384094, PMID:20229356 RGD:6484120, RGD:6484128 NCBI chr19:43,646,095...43,670,197
Ensembl chr19:43,646,095...43,670,547
JBrowse link
G PPIB peptidylprolyl isomerase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
JBrowse link
G PRF1 perforin 1 IEP
IAGP
DNA:SNP: :rs885822 (human) RGD PMID:20523897, PMID:21157294 RGD:6482808, RGD:6482819 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRPF8 pre-mRNA processing factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:1,650,629...1,684,880
Ensembl chr17:1,650,629...1,684,867
JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:78,540,405...78,552,417
Ensembl chr15:78,540,405...78,552,417
JBrowse link
G PSMA5 proteasome 20S subunit alpha 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:109,399,042...109,426,448
Ensembl chr 1:109,399,042...109,426,448
JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493
JBrowse link
G PSMB10 proteasome 20S subunit beta 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937
JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:47,418,775...47,426,473
Ensembl chr11:47,418,769...47,426,473
JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:63,827,431...63,832,019
Ensembl chr17:63,827,152...63,832,026
JBrowse link
G PSMD13 proteasome 26S subunit, non-ATPase 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:236,972...252,984
Ensembl chr11:236,966...252,984
JBrowse link
G PSMD3 proteasome 26S subunit, non-ATPase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:39,980,807...39,997,959
Ensembl chr17:39,980,807...39,997,959
JBrowse link
G PSMD6 proteasome 26S subunit, non-ATPase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:64,010,551...64,024,007
Ensembl chr 3:64,010,550...64,024,010
JBrowse link
G PSMD8 proteasome 26S subunit, non-ATPase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:38,374,571...38,383,824
Ensembl chr19:38,374,550...38,383,824
JBrowse link
G PSME1 proteasome activator subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967
JBrowse link
G PSME2 proteasome activator subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:24,143,365...24,146,646
Ensembl chr14:24,143,362...24,147,570
JBrowse link
G PSME3 proteasome activator subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:42,833,397...42,843,760
Ensembl chr17:42,824,385...42,843,760
JBrowse link
G PSME4 proteasome activator subunit 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:53,864,069...53,970,993
Ensembl chr 2:53,864,069...53,970,993
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:brain RGD PMID:21846384 RGD:5508195 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RAB11B RAB11B, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
JBrowse link
G RAB32 RAB32, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:146,543,833...146,554,953
Ensembl chr 6:146,543,833...146,554,953
JBrowse link
G RAN RAN, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:130,871,879...130,877,678
Ensembl chr12:130,872,037...130,877,678
JBrowse link
G RANBP1 RAN binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355
JBrowse link
G SELP selectin P IEP RGD PMID:22156911 RGD:6218986 NCBI chr 1:169,588,849...169,630,125
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SERPINA1 serpin family A member 1 susceptibility EXP
IAGP
CTD Direct Evidence: therapeutic
DNA:polymorphism:cds:p.Glu264Val(human)
CTD PMID:17448989, PMID:24122823 RGD:14695057 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SF3A3 splicing factor 3a subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:37,956,975...37,990,022
Ensembl chr 1:37,956,975...37,990,075
JBrowse link
G SFPQ splicing factor proline and glutamine rich EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:35,176,380...35,193,174
Ensembl chr 1:35,176,378...35,193,145
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16204638 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19720090 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC11A1 solute carrier family 11 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 2:218,381,766...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SNRPD3 small nuclear ribonucleoprotein D3 polypeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr22:24,555,650...24,574,971
Ensembl chr22:24,555,958...24,582,052
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IEP mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 IEP mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SRF serum response factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr17:58,000,919...58,007,273
Ensembl chr17:58,000,919...58,007,346
JBrowse link
G SRSF9 serine and arginine rich splicing factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:120,461,672...120,469,748
Ensembl chr12:120,461,672...120,469,748
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IEP mRNA:increased expression:multiple tissues (human) RGD PMID:24367701 RGD:39128218 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TAF9 TATA-box binding protein associated factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:69,364,743...69,369,824
Ensembl chr 5:69,364,743...69,370,013
JBrowse link
G TLR3 toll like receptor 3 susceptibility IAGP
EXP
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 4:186,069,156...186,088,073
Ensembl chr 4:186,069,155...186,088,073
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8811349 NCBI chr 1:12,063,303...12,144,213
Ensembl chr 1:12,063,303...12,144,207
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 IEP mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma RGD PMID:31260499 RGD:126925971 NCBI chr 6:41,267,385...41,286,692
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
G TRIM5 tripartite motif containing 5 EXP CTD Direct Evidence: therapeutic CTD PMID:15249687 NCBI chr11:5,590,906...5,685,108
Ensembl chr11:5,663,195...5,938,619
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr21:43,092,956...43,108,291
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G VDR vitamin D receptor IAGP DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G YY1 YY1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 treatment IAGP DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)
RGD PMID:23372834, PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G BST2 bone marrow stromal cell antigen 2 IAGP DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
JBrowse link
G CCL4 C-C motif chemokine ligand 4 IAGP DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
JBrowse link
G CCR5 C-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,854...46,376,206
JBrowse link
G CCR5AS CCR5 antisense RNA IAGP ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 NCBI chr 3:46,364,660...46,407,059
Ensembl chr 3:46,364,955...46,407,059
JBrowse link
G CD209 CD209 molecule disease_progression IAGP associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility IAGP DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,945,884
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 IEP associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
JBrowse link
G IFNA1 interferon alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
JBrowse link
G IFNG interferon gamma IAGP
EXP
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9612607 PMID:12854077 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) susceptibility IAGP DNA: (ss469415590) (human) RGD PMID:25658540 RGD:40886300 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856
JBrowse link
G IGF2 insulin like growth factor 2 IEP protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL4R interleukin 4 receptor IAGP ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to ClinVar PMID:2278997 PMID:2307934 PMID:9620765 PMID:15712015 PMID:16189667 NCBI chr16:27,313,668...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 severity IAGP DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr19:54,769,208...54,784,326
Ensembl chr19:54,769,793...54,784,322
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IEP protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr19:54,906,063...54,938,211
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 IEP protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 6:31,588,895...31,593,024
Ensembl chr 6:31,588,895...31,593,006
JBrowse link
G TNF tumor necrosis factor IEP RGD PMID:8548330 RGD:12904035 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP RGD PMID:8548330 RGD:12904035 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP RGD PMID:8548330 RGD:12904035 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G EPO erythropoietin treatment IDA RGD PMID:20818790 RGD:10395393 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G GC GC vitamin D binding protein IEP associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G INSR insulin receptor severity IEP protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IRS1 insulin receptor substrate 1 severity IDA protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
JBrowse link
G NPY neuropeptide Y severity IEP protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G OPRM1 opioid receptor mu 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
JBrowse link
G PDGFB platelet derived growth factor subunit B IEP RGD PMID:21368226 RGD:6482787 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:2 RGD:1303381 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G EGF epidermal growth factor IEP RGD PMID:19357719 RGD:6906909 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G HP haptoglobin IEP protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO
IMP
RGD PMID:23678040, PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MYH9 myosin heavy chain 9 IEP protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,387,967
JBrowse link
G NOTCH4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342, PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr19:35,862,915...35,869,287
Ensembl chr19:35,825,964...35,869,287
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 IEP RGD PMID:23018378 RGD:39018554 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 1:12,063,303...12,144,213
Ensembl chr 1:12,063,303...12,144,207
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 IAGP ClinVar Annotator: match by term: Coronary artery disease, development of, in hiv ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
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 IEP RGD PMID:29632166 RGD:13782045 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G BACE1 beta-secretase 1 IEP RGD PMID:29632166 RGD:13782045 NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259
JBrowse link
G CD68 CD68 molecule IEP protein:increased expression:brain (human) RGD PMID:15488024 RGD:40925943 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO protein:increased tyrosine phosphorylation:hippocampus RGD PMID:28107387 RGD:13506927 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
G MFN1 mitofusin 1 IEP associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) RGD PMID:26611103 RGD:12910851 NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
JBrowse link
G OLIG2 oligodendrocyte transcription factor 2 HEP RGD PMID:15579294 RGD:40902823 NCBI chr21:33,025,935...33,029,196
Ensembl chr21:33,025,935...33,029,196
JBrowse link
HIV Seropositivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17209195 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit susceptibility IAGP DNA:SNP:CDS:p.F217L (rs1047552) (human) RGD PMID:19774691 RGD:13703126 NCBI chr15:63,277,550...63,309,126
Ensembl chr15:63,276,018...63,309,126
JBrowse link
G CLEC4M C-type lectin domain family 4 member M susceptibility IAGP DNA:repeats:exon 4
DNA:repeat:
RGD PMID:25656622, PMID:20217198, PMID:16453266 RGD:11520989, RGD:39938989, RGD:39938979 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:20224785 RGD:5147578 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IFNL4 interferon lambda 4 (gene/pseudogene) susceptibility IAGP DNA:frameshift mutation:5'utr: (rs368234815) (human) RGD PMID:30289470, PMID:26372394 RGD:40886284, RGD:11344677 NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856
JBrowse link
G KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 treatment IEP RGD PMID:18724804 RGD:40818277 NCBI chr19:54,769,208...54,784,326
Ensembl chr19:54,769,793...54,784,322
JBrowse link
G KIR2DS4 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 treatment IEP RGD PMID:18724804 RGD:40818277 NCBI chr19:54,832,707...54,848,575
Ensembl chr19:54,832,676...54,848,569
JBrowse link
G KLRK1 killer cell lectin like receptor K1 IEP protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27091211 RGD:40818300 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 treatment IEP protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:18724804, PMID:27091211 RGD:40818277, RGD:40818300 NCBI chr19:54,906,063...54,938,211
Ensembl chr19:54,906,148...54,916,140
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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 IEP RGD PMID:12876073 RGD:8694470 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G IL18 interleukin 18 susceptibility IAGP
IEP
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:20331838, PMID:15353983 RGD:8655915, RGD:8655934 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G LMNA lamin A/C EXP CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20158
    syndrome 8992
      primary immunodeficiency disease 2631
        human immunodeficiency virus infectious disease 201
          Acute Retroviral Syndrome 0
          Coronary Artery Disease, Development of, in HIV 1
          HIV Encephalitis 6
          HIV Enteropathy 0
          HIV Seropositivity 9
          HIV Wasting Syndrome 4
          HIV-Associated Lipodystrophy Syndrome 6
          acquired immunodeficiency syndrome + 45
          diffuse infiltrative lymphocytosis syndrome 0
Path 2
Term Annotations click to browse term
  disease 20158
    disease of anatomical entity 18756
      Urogenital Diseases 4801
        Female Urogenital Diseases and Pregnancy Complications 2189
          Female Urogenital Diseases 1873
            female reproductive system disease 1869
              Sexually Transmitted Diseases 230
                Viral Sexually Transmitted Diseases 224
                  human immunodeficiency virus infectious disease 201
                    Acute Retroviral Syndrome 0
                    Coronary Artery Disease, Development of, in HIV 1
                    HIV Encephalitis 6
                    HIV Enteropathy 0
                    HIV Seropositivity 9
                    HIV Wasting Syndrome 4
                    HIV-Associated Lipodystrophy Syndrome 6
                    acquired immunodeficiency syndrome + 45
                    diffuse infiltrative lymphocytosis syndrome 0
paths to the root