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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:A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. (DO)
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
 alt_id: OMIM:609423
 xref: EFO:0000180;   EFO:0000764;   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 subfamily B member 1A treatment
severity		 IEP
ISO		 mRNA:altered expression:brain, heart, kidney (rat)
DNA:SNPs: :4036A>G, 1236C>T (human)		 RGD PMID:24472536 PMID:23133441 PMID:27334660 RGD:11041168, RGD:39456100, RGD:39456096 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B IDA
IEP		 mRNA:decreased expression, increased expression:brain, kidney (rat) RGD PMID:16790532 PMID:24472536 RGD:1598562, RGD:11041168 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199 		JBrowse link
G Abce1 ATP binding cassette subfamily E member 1 ISO DNA:mutations:multiple (human) RGD PMID:19657357 RGD:11041871 NCBI chr19:28,205,566...28,230,489
Ensembl chr19:28,205,555...28,230,489 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:30219203 RGD:127285639 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16903978 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:105,871,424...105,875,076
Ensembl chr10:105,871,306...105,875,069 		JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12646808 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:29,806,214...29,834,217
Ensembl chr18:29,807,536...29,833,555 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023 		JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658 		JBrowse link
G Atm ATM serine/threonine kinase ISO protein:decreased expression:T cell (human) RGD PMID:31781094 RGD:126790561 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bag3 BAG cochaperone 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187345 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979 		JBrowse link
G C3 complement C3 ISO RGD PMID:7561187 RGD:11040775 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 susceptibility ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma		 ClinVar
OMIM
CTD
RGD		 PMID:14571188 PMID:27246604 RGD:14995461 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:14571188 PMID:27246604 RGD:14995461 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 susceptibility ISO RGD PMID:16250882 RGD:5683897 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10200305 PMID:12114533 PMID:12610055 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to		 CTD
OMIM
ClinVar		 PMID:9252328 PMID:9662369 PMID:25741868 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10202824 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human)
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:4892094 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757 		JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580 		JBrowse link
G Cd163 CD163 molecule exacerbates
treatment		 ISO protein:increased expression:blood plasma (human) RGD PMID:23916293 PMID:24594990 RGD:127285682, RGD:149735575 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd209d CD209d molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to		 CTD
OMIM
ClinVar		 PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171 		JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:30161254 PMID:30236481 RGD:41412179, RGD:41412181 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7492435 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasmacytoid dendritic cell RGD PMID:20559432 RGD:5490533 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21177803 RGD:5490598 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd68 Cd68 molecule disease_progression ISO associated with opioid use;protein:increased expression:brain (human) RGD PMID:22797933 RGD:41404655 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cd8a CD8 subunit alpha treatment ISO RGD PMID:29384862 RGD:124715453 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712 		JBrowse link
G Cops6 COP9 signalosome subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:17,038,979...17,041,818
Ensembl chr12:17,038,979...17,046,371 		JBrowse link
G Cr2 complement C3d receptor 2 ISO protein:decreased expression:B cell RGD PMID:8442917 RGD:127338249 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:22448211 RGD:6482303 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:plasma RGD PMID:27246604 RGD:14995461 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to		 OMIM
CTD
ClinVar		 PMID:9430590 PMID:25741868 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 treatment ISO DNA:haplotype: :CYP2B6*6(human)
DNA:SNPs: :516G>T,983T>C (human)		 RGD PMID:21862974 PMID:18281305 RGD:11098366, RGD:11097175 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143 		JBrowse link
G Ddx1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24183723 NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:24183723 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:85,518,637...85,555,079
Ensembl chr10:85,518,621...85,555,575 		JBrowse link
G Eif3b eukaryotic translation initiation factor 3, subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:14,196,403...14,220,865
Ensembl chr12:14,196,403...14,220,886 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Eif6 eukaryotic translation initiation factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:144,325,038...144,331,396
Ensembl chr 3:144,325,036...144,331,401 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Ephb2 Eph receptor B2 ISO mRNA:decreased expression:Anterior cingulate RGD PMID:23314923 RGD:127285026 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:10200468 RGD:11049451 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcer2 Fc epsilon receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:11500085 NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:21187939 RGD:5508390 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115 		JBrowse link
G Gc GC, vitamin D binding protein disease_progression ISO RGD PMID:2883392 RGD:5509934 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Grpel1 GrpE-like 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:74,292,023...74,298,243
Ensembl chr14:74,292,023...74,298,200 		JBrowse link
G Gtf3a general transcription factor III A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:8,136,746...8,144,690
Ensembl chr12:8,136,747...8,144,690 		JBrowse link
G Hdgf heparin binding growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Hsph1 heat shock protein family H (Hsp110) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:5,390,916...5,410,224
Ensembl chr12:5,390,922...5,410,224 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 PMID:10202824 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 treatment
susceptibility		 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:10202824 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 More... RGD:7365087 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il15 interleukin 15 ISO protein:decreased expression:plasma RGD PMID:20028198 RGD:4892672 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il17d interleukin 17D severity ISO Protein:increased expression:blood plasma (human) RGD PMID:28592538 RGD:40903074 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:serum:
associated with hepatitis C; protein:increased expression:serum:		 RGD PMID:27927859 PMID:27927859 RGD:14696653, RGD:14696653 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21 interleukin 21 ISO associated with hepatitis B;protein:decreased expression:blood serum (human) RGD PMID:22948268 RGD:127285366 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22530560 RGD:6892924 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Il27 interleukin 27 ameliorates ISO protein:increased expression:blood plasma (human)
associated with hepatitis C;protein:increased expression:blood plasma (human)		 RGD PMID:28338007 PMID:24816922 RGD:126790518, RGD:126790553 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il4r interleukin 4 receptor ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337 		JBrowse link
G Ipo7 importin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:164,062,702...164,102,938
Ensembl chr 1:164,062,702...164,102,938 		JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 susceptibility ISO DNA:deletion:cds
CTD Direct Evidence: marker/mechanism		 OMIM
CTD
RGD		 PMID:17496894 PMID:31863692 RGD:38676444 NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050 		JBrowse link
G Kmt2e lysine methyltransferase 2E ISO protein:increased expression:peripheral blood, T cell, CD4+ (human) RGD PMID:16046540 RGD:9588555 NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373 		JBrowse link
G Kpnb1 karyopherin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:82,145,662...82,174,437
Ensembl chr10:82,145,420...82,174,605 		JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase IDA protein:increased tyrosine phosphorylation:T cell RGD PMID:16828835 RGD:1600221 NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794 		JBrowse link
G Lepr leptin receptor ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:12100031 RGD:21079471 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868 		JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:19966940 RGD:6483319 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Maz MYC associated zinc finger protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mbl2 mannose binding lectin 2 no_association
severity		 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:		 CTD
RGD		 PMID:16960176 PMID:26348711 PMID:19796822 RGD:12910931, RGD:12910857 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21576701 RGD:6483531 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mvb12a multivesicular body subunit 12A ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr16:18,252,227...18,257,111
Ensembl chr16:18,252,222...18,257,539 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:30005007 RGD:127285390 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nefm neurofilament medium chain ISO protein:increased serine/threonine phosphorylation:brain RGD PMID:26033855 RGD:40886309 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755 		JBrowse link
G Nup88 nucleoporin 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257 		JBrowse link
G Nutf2 nuclear transport factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591 		JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Oprm1 opioid receptor, mu 1 IEP mRNA:increased expression:macrophage RGD PMID:17553897 RGD:2316609 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:30161254 RGD:41412179 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:18096355 RGD:6482728 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014 		JBrowse link
G Plaur plasminogen activator, urokinase receptor disease_progression ISO protein:increased expression:plasma RGD PMID:21384094 PMID:20229356 RGD:6484120, RGD:6484128 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Ppia peptidylprolyl isomerase A disease_progression ISO DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) RGD PMID:17590083 RGD:150383341 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601 		JBrowse link
G Ppib peptidylprolyl isomerase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Prf1 perforin 1 ISO DNA:SNP: :rs885822 (human) RGD PMID:20523897 PMID:21157294 RGD:6482808, RGD:6482819 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606 		JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890 		JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554 		JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:91,187,763...91,193,697
Ensembl chr10:91,187,743...91,213,135 		JBrowse link
G Psmd13 proteasome 26S subunit, non-ATPase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:195,964,617...195,976,895
Ensembl chr 1:195,964,138...195,976,905 		JBrowse link
G Psmd3 proteasome 26S subunit, non-ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:83,643,473...83,655,620
Ensembl chr10:83,643,647...83,655,618 		JBrowse link
G Psmd6 proteasome 26S subunit, non-ATPase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:11,102,174...11,112,180
Ensembl chr15:11,102,180...11,205,620 		JBrowse link
G Psmd8 proteasome 26S subunit, non-ATPase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:84,474,377...84,481,209
Ensembl chr 1:84,474,378...84,481,209 		JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890 		JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946 		JBrowse link
G Psme3 proteasome activator subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:86,257,672...86,265,458
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Psme4 proteasome activator subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:104,505,716...104,609,410
Ensembl chr14:104,505,716...104,609,408 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP mRNA, protein:increased expression:brain RGD PMID:21846384 RGD:5508195 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rab11b RAB11B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:14,521,448...14,534,589
Ensembl chr 7:14,521,368...14,534,593 		JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934 		JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276 		JBrowse link
G Ranbp1 RAN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms (human) RGD PMID:18427198 RGD:5147817 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)		 RGD PMID:20345872 PMID:18427198 RGD:5147659, RGD:5147817 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:21427211 RGD:5490157 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 disease_progression
susceptibility		 ISO DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
DNA:polymorphisms: :multiple (human)		 RGD PMID:28244954 PMID:21257739 PMID:20345872 RGD:40903000, RGD:5147591, RGD:5147659 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Selp selectin P ISO RGD PMID:22156911 RGD:6218986 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Serpina1 serpin family A member 1 susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphism:cds:p.Glu264Val(human)		 CTD
RGD		 PMID:17448989 PMID:24122823 RGD:14695057 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:136,967,713...136,987,345
Ensembl chr 5:136,967,691...136,987,361 		JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:139,338,034...139,353,476
Ensembl chr 5:139,338,075...139,353,472 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16204638 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19720090 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:13,130,112...13,145,947
Ensembl chr20:13,130,119...13,145,978 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787 		JBrowse link
G Srf serum response factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733 		JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336 		JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:41,278,225...41,284,502
Ensembl chr12:41,275,687...41,284,499 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO mRNA:increased expression:multiple tissues (human) RGD PMID:24367701 RGD:39128218 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Taf9 TATA-box binding protein associated factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:31,794,316...31,798,324
Ensembl chr 2:31,794,142...31,798,769 		JBrowse link
G Tlr3 toll-like receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to		 CTD
OMIM
ClinVar		 PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 More... NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8811349 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma RGD PMID:31260499 RGD:126925971 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
G Trim5 tripartite motif-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:15249687 NCBI chr 1:158,720,407...158,737,393
Ensembl chr 1:158,720,410...158,814,012 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747 		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 subfamily B member 1A treatment ISO DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)		 RGD PMID:23372834 PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Arhgap44 Rho GTPase activating protein 44 disease_progression ISO DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)		 RGD PMID:28069446 PMID:21107268 RGD:401901288, RGD:401901289 NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd209d CD209d molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9612607 NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to		 CTD
ClinVar		 PMID:9612607 PMID:12854077 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558 		JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799 		JBrowse link
G RT1-CE15 RT1 class I, locus CE15 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563
Ensembl chr20:3,264,172...3,279,563 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Gc GC, vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Nefl neurofilament light chain ISO associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)		 RGD PMID:30105502 PMID:27400930 RGD:127284876, RGD:127284885 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:2 RGD:1303381 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040 PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Notch4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342 PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
AIDS-Related Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klrk1 killer cell lectin like receptor K1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
Coronary Artery Disease, Development of, in HIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
HIV Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO RGD PMID:29632166 RGD:13782045 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Bace1 beta-secretase 1 ISO RGD PMID:29632166 RGD:13782045 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Cd68 Cd68 molecule ISO protein:increased expression:brain (human) RGD PMID:15488024 RGD:40925943 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 IDA protein:increased tyrosine phosphorylation:hippocampus RGD PMID:28107387 RGD:13506927 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G Mfn1 mitofusin 1 ISO associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) RGD PMID:26611103 RGD:12910851 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO RGD PMID:15579294 RGD:40902823 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152 		JBrowse link
HIV Seropositivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17209195 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit susceptibility ISO DNA:SNP:CDS:p.F217L (rs1047552) (human) RGD PMID:19774691 RGD:13703126 NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243 		JBrowse link
G Clec4m C-type lectin domain family 4 member M susceptibility ISO DNA:repeats:exon 4
DNA:repeat: 		RGD PMID:25656622 PMID:20217198 PMID:16453266 RGD:11520989, RGD:39938989, RGD:39938979 NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27091211 RGD:40818300 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 treatment ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:18724804 PMID:27091211 RGD:40818277, RGD:40818300 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558 		JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:30105502 RGD:127284876 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20224785 RGD:5147578 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
HIV Wasting Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:12876073 RGD:8694470 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:20331838 PMID:15353983 RGD:8655915, RGD:8655934 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        human immunodeficiency virus infectious disease 203
          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 6
          acquired immunodeficiency syndrome + 45
          diffuse infiltrative lymphocytosis syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              Sexually Transmitted Diseases 235
                Viral Sexually Transmitted Diseases 226
                  human immunodeficiency virus infectious disease 203
                    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 6
                    acquired immunodeficiency syndrome + 45
                    diffuse infiltrative lymphocytosis syndrome 0
paths to the root