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: Retroviridae Infections
Accession: DOID:9006644
browse the term
Definition: Virus diseases caused by the RETROVIRIDAE.
Synonyms: exact_synonym: Retroviridae Infection; Retrovirus Infection; Retrovirus Infections
primary_id: MESH:D012192
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Aicda
activation-induced cytidine deaminase
exacerbates treatment
ISO
RGD
PMID:16782033 PMID:25378499
RGD:127285628 , RGD:127285643
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15661267
RGD:126781747
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:24872193 PMID:22284121 PMID:28381565
RGD:14398761 , RGD:14398822 , RGD:14398820
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Cd274
CD274 molecule
treatment
ISO
RGD
PMID:24187568
RGD:41410793
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Il10
interleukin 10
ISO
RGD
PMID:11369878
RGD:11049463
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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
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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
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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
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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
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Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to
ClinVar
PMID:9742978 PMID:12610055 PMID:12815099
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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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
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Cd4
Cd4 molecule
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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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
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Cd68
Cd68 molecule
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd8a
CD8 subunit alpha
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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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
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Rhob
ras homolog family member B
IDA
RGD
PMID:1710770
RGD:704375
NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
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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
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs,haplotypes:promoter:multiple (human)
RGD
PMID:19264667
RGD:41410814
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ccr2
C-C motif chemokine receptor 2
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
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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
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Ccr5
C-C motif chemokine receptor 5
susceptibility
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 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:33116287 PMID:16379602 More...
RGD:4892094
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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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
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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
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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
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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
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Cd209d
CD209d molecule
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Il10
interleukin 10
treatment
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 PMID:25741868 PMID:28492532 PMID:10666520 More...
RGD:7365087
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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
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Il17d
interleukin 17D
severity
ISO
Protein:increased expression:blood plasma (human)
RGD
PMID:28592538
RGD:40903074
NCBI chr15:31,671,337...31,688,833
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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
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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 PMID:28492532 More...
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds CTD Direct Evidence: marker/mechanism
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Pomc
proopiomelanocortin
ISO
mRNA:decreased expression:striatum
RGD
PMID:20651230
RGD:407571693
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:28046022 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:33174085 PMID:34813006 More...
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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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
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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
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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
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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
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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
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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
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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
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26937033
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Mir150
microRNA 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26937033
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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Mir190b
microRNA 190b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26937033
NCBI chr 2:175,514,800...175,514,877
Ensembl chr 2:175,514,800...175,514,877
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Apobec3
apolipoprotein B mRNA editing enzyme catalytic subunit 3
disease_progression
ISO
associated with Arterivirus Infections
RGD
PMID:23725696
RGD:40902617
NCBI chr 7:111,433,789...111,453,032
Ensembl chr 7:111,433,764...111,452,922
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Cd40
CD40 molecule
susceptibility
ISO
RGD
PMID:12438641
RGD:11520795
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:8642687
RGD:11520796
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Il10
interleukin 10
ISO
RGD
PMID:23415673
RGD:7364815
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Nfkbia
NFKB inhibitor alpha
ISO
protein:decreased expression:lymph node (mouse)
RGD
PMID:10429205
RGD:127285021
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Rnasel
ribonuclease L
ISO
associated with Arterivirus Infections
RGD
PMID:23725696
RGD:40902617
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
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Ifnl1
interferon, lambda 1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Zeb1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all