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: acquired immunodeficiency syndrome
Accession: DOID:635
browse the term
Definition: A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening 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. Opportunistic infections are common in people with AIDS. (DO)
Synonyms: exact_synonym: AIDS; Acquired Immune Deficiency Syndrome; Acquired Immuno Deficiency Syndrome; Acquired Immunodeficiency Syndromes; acquired immune deficiency; acquired immuno-deficiency syndromes; acquired immunologic deficiency syndrome
narrow_synonym: AIDS-related disease; acquired immunodeficiency syndrome, delayed progression to; acquired immunodeficiency syndrome, rapid progression to; acquired immunodeficiency syndrome, slow progression to
primary_id: MESH:D000163
xref: EFO:0000765 ; EFO:0009528 ; NCI:C2851
For additional species annotation, visit the
Alliance of Genome Resources .
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
G
ARHGAP44
Rho GTPase activating protein 44
disease_progression
IAGP
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human)
RGD
PMID:28069446 PMID:21107268
RGD:401901288 , RGD:401901289
NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
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
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
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 PMID:25741868
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CCR5AS
CCR5 antisense RNA
IAGP
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to
ClinVar
PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868
NCBI chr 3:46,363,984...46,407,066
Ensembl chr 3:46,364,391...46,407,117
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
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
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...45,370,573
Ensembl chr19:45,349,837...45,370,918
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...29,949,572
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
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
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
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
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...2,158,391
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
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 chr19:54,769,793...54,784,322
Ensembl chr19:54,769,793...54,784,322
G
KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
disease_progression
IGI
DNA:CNV: (human)
RGD
PMID:12134147
RGD:150340564
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 chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
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...31,593,006
Ensembl chr 6:31,588,895...31,593,006
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
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
G
TNFRSF1B
TNF receptor superfamily member 1B
IEP
RGD
PMID:8548330
RGD:12904035
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
G
VDR
vitamin D receptor
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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
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
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
G
IL1B
interleukin 1 beta
ISO
protein:increased expression:neocortex
RGD
PMID:17678975
RGD:1626641
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
INSR
insulin receptor
severity
IEP
protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22629383
RGD:10403033
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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
G
NEFL
neurofilament light chain
IEP
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 chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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
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
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
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
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
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
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
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
G
MTOR
mechanistic target of rapamycin kinase
ISO IMP
RGD
PMID:23678040 PMID:23678040
RGD:7245474 , RGD:7245474
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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...36,388,010
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
G
NPHS1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:19188342 PMID:17229913
RGD:38596324 , RGD:38599164
NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
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
G
BCL2
BCL2 apoptosis regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
G
IL32
interleukin 32
IEP
mRNA:increased expression:zone of skin, blood serum (human)
RGD
PMID:29037857
RGD:150340744
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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
G
TNFRSF8
TNF receptor superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all