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: Sexually Transmitted Diseases
Accession: DOID:9004302
browse the term
Definition: Diseases due to or propagated by sexual contact.
Synonyms: exact_synonym: STI; Sexually Transmitted Disease; Sexually Transmitted Infection; Sexually Transmitted Infections; Venereal Disease; Venereal Diseases
primary_id: MESH:D012749
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ABCB1
ATP binding cassette subfamily B member 1
treatment
ISO
DNA:SNP: : rs10276036(human) DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
RGD
PMID:23372834 PMID:24517233
RGD:11098698 RGD:39456119
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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ARHGAP44
Rho GTPase activating protein 44
disease_progression
ISO
DNA:SNP:intron: (rs2072255) (human) DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
RGD
PMID:21107268 PMID:28069446
RGD:401901288 RGD:401901289
NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457
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BST2
bone marrow stromal cell antigen 2
ISO
DNA:SNPs: :
RGD
PMID:26885809
RGD:14398494
NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728
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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 PMID:25741868
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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CD209
CD209 molecule
disease_progression
ISO
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human)
RGD
PMID:17530998
RGD:39939010
NCBI chr19:7,042,033...7,047,350
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CD40LG
CD40 ligand
treatment
ISO
RGD
PMID:9499800
RGD:11344976
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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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 chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
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IFNG
interferon gamma
ISO
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
ClinVar
PMID:12854077
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IGF2
insulin like growth factor 2
ISO
protein:decreased expression:plasma
RGD
PMID:11232005
RGD:5509969
NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
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IL2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9861562
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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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 chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
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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 chr 6:31,249,947...31,281,613
Ensembl chr 6:32,139,981...32,171,525
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TNF
tumor necrosis factor
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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ADRB2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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EPO
erythropoietin
treatment
ISO
RGD
PMID:20818790
RGD:10395393
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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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 chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
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IL1B
interleukin 1 beta
ISO
protein:increased expression:neocortex
RGD
PMID:17678975
RGD:1626641
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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INSR
insulin receptor
severity
ISO
protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22629383
RGD:10403033
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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IRS1
insulin receptor substrate 1
severity
ISO
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte
RGD
PMID:22629383
RGD:10403033
NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
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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:27400930 PMID:30105502
RGD:127284876 RGD:127284885
NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
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NPY
neuropeptide Y
severity
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:8815163
RGD:10431910
NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
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OPRM1
opioid receptor mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251
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PDGFB
platelet derived growth factor subunit B
ISO
RGD
PMID:21368226
RGD:6482787
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
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SLC6A4
solute carrier family 6 member 4
ISO
RGD
PMID:25404050
RGD:38676266
NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:2
RGD:1303381
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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EGF
epidermal growth factor
ISO
RGD
PMID:19357719
RGD:6906909
NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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MTOR
mechanistic target of rapamycin kinase
ISO
RGD
PMID:23678040
RGD:7245474
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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MYH9
myosin heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
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NOTCH4
notch receptor 4
ISO
protein: increased expression: kidney
RGD
PMID:20706108
RGD:6480788
NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
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NPHS1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:17229913 PMID:19188342
RGD:38596324 RGD:38599164
NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
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KLRK1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:23018378
RGD:39018554
NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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IL32
interleukin 32
ISO
mRNA:increased expression:zone of skin, blood serum (human)
RGD
PMID:29037857
RGD:150340744
NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
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CD4
CD4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
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CCL20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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CD8A
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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FOXP3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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IFNA6
interferon alpha 6
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 9:21,211,046...21,211,734
Ensembl chr 9:21,828,719...21,829,288
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IL10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL12B
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
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IL2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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IL4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:40400714 RGD:7829774
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
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IL6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:23,415,922...23,420,767
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KLRK1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
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MAPK8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr10:45,806,748...45,936,362
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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NCR1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
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PDCD1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:130,849,353...130,858,776
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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PTPN6
protein tyrosine phosphatase non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830
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SERPINF1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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TGFB1
transforming growth factor beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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TLR2
toll like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TLR3
toll like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
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TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TLR7
toll like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517
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TLR8
toll like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:5,518,742...5,535,304
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TNF
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
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BIRC2
baculoviral IAP repeat containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
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BIRC3
baculoviral IAP repeat containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16118671
RGD:8549760
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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CD40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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FOXP3
forkhead box P3
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
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ICAM1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:19728926
RGD:4145507
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:30832593 PMID:31249813
RGD:38455984 RGD:39938856
NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL13
interleukin 13
ISO
RGD
PMID:21573182
RGD:5684365
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
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IL17A
interleukin 17A
ISO
associated with Bronchial Hyprractivity; mRNA:increased expression:lung
RGD
PMID:19812198 PMID:20228193
RGD:4888528 RGD:4889101
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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TGFB1
transforming growth factor beta 1
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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CD274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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PDCD1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr12:130,849,353...130,858,776
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633
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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 PMID:25741868 More...
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCL5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
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IFNAR1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr21:19,683,496...19,719,034
Ensembl chr21:33,058,396...33,093,824
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IFNG
interferon gamma
ISO
RGD
PMID:10366565
RGD:8158034
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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IL3
interleukin 3
ISO
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
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IRF9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824
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NFE2L2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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RNASEL
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045
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STAT4
signal transducer and activator of transcription 4
treatment severity
ISO
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple
RGD
PMID:22718836
RGD:8661697
NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
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APP
amyloid beta precursor protein
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr21:12,324,455...12,608,594
Ensembl chr21:25,684,355...25,995,072
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BACE1
beta-secretase 1
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812
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CD68
CD68 molecule
ISO
protein:increased expression:brain (human)
RGD
PMID:15488024
RGD:40925943
NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
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CDK5
cyclin dependent kinase 5
ISO
protein:increased tyrosine phosphorylation:hippocampus
RGD
PMID:28107387
RGD:13506927
NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
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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 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
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OLIG2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:15579294
RGD:40902823
NCBI chr21:19,387,860...19,391,291
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ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17209195
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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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 chr15:42,224,593...42,256,202
Ensembl chr15:60,520,031...60,551,599
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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 chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
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LOC100978434
C-type lectin domain family 4 member M
susceptibility
ISO
DNA:repeats:exon 4 DNA:repeat:
RGD
PMID:16453266 PMID:20217198 PMID:25656622
RGD:11520989 RGD:39938979 RGD:39938989
NCBI chr19:7,062,961...7,069,381
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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 chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
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NEFL
neurofilament light chain
treatment
ISO
RGD
PMID:30105502
RGD:127284876
NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
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IL1A
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 7:23,415,922...23,420,767
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:12876073
RGD:8694470
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
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ADRB3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:10930169
RGD:5684895
NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949
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IL18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:15353983 PMID:20331838
RGD:8655915 RGD:8655934
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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LMNA
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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MMP1
matrix metallopeptidase 1
ISO
DNA:SNP
RGD
PMID:20852404
RGD:8549721
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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ZMPSTE24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
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ABCB1
ATP binding cassette subfamily B member 1
severity treatment
ISO
mRNA:altered expression:brain, heart, kidney (rat) DNA:SNPs: :4036A>G, 1236C>T (human)
RGD
PMID:23133441 PMID:24472536 PMID:27334660
RGD:11041168 RGD:39456096 RGD:39456100
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
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ABCE1
ATP binding cassette subfamily E member 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:19657357
RGD:11041871
NCBI chr 4:137,445,210...137,476,309
Ensembl chr 4:149,105,912...149,137,028
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ADRB2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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AICDA
activation induced cytidine deaminase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:30219203
RGD:127285639
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16903978
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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ALYREF
Aly/REF export factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:76,293,410...76,297,171
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APOA1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12646808
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
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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 chr 5:137,014,286...137,042,786
Ensembl chr 5:143,127,414...143,153,318
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ARHGAP4
Rho GTPase activating protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr X:143,462,157...143,481,496
Ensembl chr X:153,349,050...153,367,709
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ARHGDIA
Rho GDP dissociation inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:76,273,196...76,276,942
Ensembl chr17:81,975,340...81,978,447
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ARHGDIB
Rho GDP dissociation inhibitor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:14,944,746...14,964,357
Ensembl chr12:15,341,491...15,361,160
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ATM
ATM serine/threonine kinase
ISO
protein:decreased expression:T cell (human)
RGD
PMID:31781094
RGD:126790561
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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BAG3
BAG cochaperone 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17187345
NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964
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BAX
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BIRC2
baculoviral IAP repeat containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
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BIRC3
baculoviral IAP repeat containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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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 chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728
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C3
complement C3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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CCL2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:14571188
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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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
ClinVar OMIM
PMID:10200305 PMID:12114533 PMID:12610055
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
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CCR2
C-C motif chemokine receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar OMIM
PMID:9252328 PMID:9662369 PMID:25741868
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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CCR3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10202824
NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
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CCR5
C-C motif chemokine receptor 5
ISO
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
ClinVar OMIM
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:25741868 PMID:28492532 PMID:33116287 More...
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
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CCT3
chaperonin containing TCP1 subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:131,652,058...131,679,802
Ensembl chr 1:135,481,427...135,508,983
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CCT5
chaperonin containing TCP1 subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:10,565,911...10,580,808
Ensembl chr 5:10,424,157...10,440,613
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CCT7
chaperonin containing TCP1 subunit 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr2A:73,287,026...73,305,792
Ensembl chr2A:74,775,781...74,794,515
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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 chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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CD209
CD209 molecule
susceptibility
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar OMIM
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868
NCBI chr19:7,042,033...7,047,350
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CD274
CD274 molecule
ISO
RGD
PMID:30161254 PMID:30236481
RGD:41412179 RGD:41412181
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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CD28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7492435
NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
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CD40
CD40 molecule
ISO
protein:increased expression:plasmacytoid dendritic cell
RGD
PMID:20559432
RGD:5490533
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CD40LG
CD40 ligand
ISO
RGD
PMID:21177803
RGD:5490598
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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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 chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
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CD8A
CD8 subunit alpha
treatment
ISO
RGD
PMID:29384862
RGD:124715453
NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635
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CDC42
cell division cycle 42
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:21,245,970...21,286,210
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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CLIC1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:31,391,958...31,397,920
Ensembl chr 6:32,280,645...32,286,621
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COPS6
COP9 signalosome subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 7:92,124,166...92,127,165
Ensembl chr 7:105,557,778...105,560,998
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CR2
complement C3d receptor 2
ISO
protein:decreased expression:B cell
RGD
PMID:8442917
RGD:127338249
NCBI chr 1:183,052,798...183,088,385
Ensembl chr 1:187,330,483...187,366,069
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CRP
C-reactive protein
disease_progression
ISO
RGD
PMID:22448211
RGD:6482303
NCBI chr 1:135,062,102...135,064,402
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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
OMIM ClinVar
PMID:25741868
NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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CXCL10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma
RGD
PMID:27246604
RGD:14995461
NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
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CXCL12
C-X-C motif chemokine ligand 12
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM ClinVar
PMID:9430590 PMID:25741868
NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
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CXCL8
C-X-C motif chemokine ligand 8
ISO
associated with pleural tuberculosis; protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21303360 PMID:31217522
RGD:150521549 RGD:36947878
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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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
ClinVar OMIM
PMID:25741868
NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890
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CYP2B6
cytochrome P450 family 2 subfamily B member 6
treatment
ISO
DNA:SNPs: :516G>T,983T>C (human) DNA:haplotype: :CYP2B6*6(human)
RGD
PMID:18281305 PMID:21862974
RGD:11097175 RGD:11098366
NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672
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DDX1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr2A:15,582,499...15,619,751
Ensembl chr2A:15,716,044...15,753,623
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DDX3X
DEAD-box helicase 3 X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837
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DNAJC7
DnaJ heat shock protein family (Hsp40) member C7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:15,298,432...15,339,389
Ensembl chr17:15,517,707...15,558,809
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EIF3B
eukaryotic translation initiation factor 3 subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 7:2,619,460...2,646,182
Ensembl chr 7:2,718,582...2,742,695
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EIF4A1
eukaryotic translation initiation factor 4A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:7,604,331...7,610,302
Ensembl chr17:7,590,569...7,596,876
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EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936
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EIF6
eukaryotic translation initiation factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:31,608,264...31,614,225
Ensembl chr20:32,731,097...32,737,136
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EMG1
EMG1 N1-specific pseudouridine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807
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EPHB2
EPH receptor B2
ISO
mRNA:decreased expression:Anterior cingulate
RGD
PMID:23314923
RGD:127285026
NCBI chr 1:21,895,961...22,107,649
Ensembl chr 1:22,912,570...23,047,118
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:10200468
RGD:11049451
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FCER2
Fc epsilon receptor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11500085
NCBI chr19:6,978,116...6,989,986
Ensembl chr19:7,834,106...7,844,924
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FCGR3A
Fc gamma receptor IIIa
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:21187939
RGD:5508390
NCBI chr 1:137,027,943...137,036,738
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GADD45A
growth arrest and DNA damage inducible alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 1:66,925,063...66,928,222
Ensembl chr 1:68,880,912...68,884,188
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GC
GC vitamin D binding protein
disease_progression
ISO
RGD
PMID:2883392
RGD:5509934
NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
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GRPEL1
GrpE like 1, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
Ensembl chr 4:7,126,043...7,135,388
G
GTF3A
general transcription factor IIIA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr13:8,713,701...8,724,829
Ensembl chr13:27,059,069...27,070,100
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HDGF
heparin binding growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:132,085,446...132,110,214
Ensembl chr 1:135,907,119...135,917,607
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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 chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723
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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 6:43,842,796...43,849,637
Ensembl chr 6:45,125,773...45,133,872
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HSPA9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551
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HSPB1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
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HSPH1
heat shock protein family H (Hsp110) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr13:12,412,826...12,438,563
Ensembl chr13:30,846,631...30,871,161
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IFNG
interferon gamma
ISO
OMIM
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL10
interleukin 10
treatment susceptibility
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
RGD OMIM ClinVar
PMID:10666520 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
RGD:7365087
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL15
interleukin 15
ISO
protein:decreased expression:plasma
RGD
PMID:20028198
RGD:4892672
NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622
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IL17D
interleukin 17D
severity
ISO
Protein:increased expression:blood plasma (human)
RGD
PMID:28592538
RGD:40903074
NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535
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IL18
interleukin 18
treatment
ISO
associated with hepatitis C; protein:increased expression:serum:
RGD
PMID:27927859
RGD:14696653
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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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 chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748
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IL2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
G
IL21
interleukin 21
ISO
associated with hepatitis B;protein:decreased expression:blood serum (human)
RGD
PMID:22948268
RGD:127285366
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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IL21R
interleukin 21 receptor
ISO
RGD
PMID:22530560
RGD:6892924
Ensembl chr16:27,774,864...27,821,769
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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:24816922 PMID:28338007
RGD:126790518 RGD:126790553
G
IL2RA
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr10:6,053,549...6,103,863
G
IL32
interleukin 32
ISO
protein:increased expression:blood serum (human)
RGD
PMID:18329725
RGD:150340725
NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
G
IL4R
interleukin 4 receptor
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
Ensembl chr16:27,642,702...27,737,445
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IL6
interleukin 6
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr 7:23,415,922...23,420,767
G
ILF2
interleukin enhancer binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:129,018,622...129,027,550
Ensembl chr 1:132,647,296...132,656,361
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IPO7
importin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:9,521,055...9,583,638
Ensembl chr11:9,256,060...9,318,333
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KMT2E
lysine methyltransferase 2E (inactive)
ISO
protein:increased expression:peripheral blood, T cell, CD4+ (human)
RGD
PMID:16046540
RGD:9588555
NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851
G
KPNB1
karyopherin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:9,852,424...9,887,111
Ensembl chr17:10,035,732...10,068,913
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LCK
LCK proto-oncogene, Src family tyrosine kinase
ISO
protein:increased tyrosine phosphorylation:T cell
RGD
PMID:16828835
RGD:1600221
NCBI chr 1:31,560,229...31,572,391
Ensembl chr 1:32,565,739...32,579,923
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LEPR
leptin receptor
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:12100031
RGD:21079471
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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LOC100972383
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:111,776,428...111,803,827
Ensembl chr 1:111,015,365...111,031,944
G
LOC100972994
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:18427198 PMID:20345872
RGD:5147659 RGD:5147817
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
G
LOC100980531
eotaxin
susceptibility
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar OMIM
PMID:14571188
NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345 Ensembl chr17:22,806,076...22,808,345
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LOC100982294
class I histocompatibility antigen, Gogo-C*0202 alpha chain
susceptibility
ISO
ClinVar Annotator: match by term: HIV-1 viremia, susceptibility to
ClinVar OMIM
PMID:19935663
NCBI chr 6:31,020,373...31,024,959
Ensembl chr 6:31,910,788...31,914,286
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LOC100982859
class I histocompatibility antigen, Gogo-B*0101 alpha chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
CTD RGD
PMID:17496894 PMID:28244954
RGD:40903000
NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
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LOC100987081
HLA class II histocompatibility antigen, DR alpha chain
ISO
RGD
PMID:21427211
RGD:5490157
NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417
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LOC117974322
C-C motif chemokine 4
disease_progression
ISO
RGD
PMID:19279442
RGD:41404638
NCBI chr17:20,689,341...20,691,921
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LYN
LYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:52,318,497...52,455,741
Ensembl chr 8:49,755,708...49,825,287
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MAP2
microtubule associated protein 2
ISO
RGD
PMID:19966940
RGD:6483319
NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728
G
MAZ
MYC associated zinc finger protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
Ensembl chr16:30,049,806...30,070,469
G
MBL2
mannose binding lectin 2
severity no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:
CTD RGD
PMID:16960176 PMID:19796822 PMID:26348711
RGD:12910857 RGD:12910931
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
MDM2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
G
MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:21576701
RGD:6483531
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
G
MVB12A
multivesicular body subunit 12A
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr19:16,906,449...16,911,717
Ensembl chr19:17,880,073...17,894,044
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MYH9
myosin heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
G
NEFL
neurofilament light chain
treatment
ISO
RGD
PMID:30005007
RGD:127285390
NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
G
NEFM
neurofilament medium chain
ISO
protein:increased serine/threonine phosphorylation:brain
RGD
PMID:26033855
RGD:40886309
NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468
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NUP88
nucleoporin 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:5,434,448...5,468,004
Ensembl chr17:5,426,379...5,460,375
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NUTF2
nuclear transport factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr16:48,188,533...48,214,205
Ensembl chr16:67,575,842...67,601,053
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ODC1
ornithine decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr2A:10,443,308...10,451,412
Ensembl chr2A:10,598,125...10,607,152
G
OGG1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29709520
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
G
OPRM1
opioid receptor mu 1
ISO
mRNA:increased expression:macrophage
RGD
PMID:17553897
RGD:2316609
NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251
G
PDCD1
programmed cell death 1
ISO
RGD
PMID:30161254
RGD:41412179
NCBI chr12:130,849,353...130,858,776
G
PLA2G2A
phospholipase A2 group IIA
ISO
RGD
PMID:18096355
RGD:6482728
NCBI chr 1:18,930,294...18,934,563
Ensembl chr 1:19,971,084...19,977,627
G
PLAUR
plasminogen activator, urokinase receptor
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:20229356 PMID:21384094
RGD:6484120 RGD:6484128
NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561 Ensembl chr19:49,197,341...49,222,561
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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 chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545
G
PPIB
peptidylprolyl isomerase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:43,108,139...43,115,470
Ensembl chr15:61,400,272...61,406,758
G
PRF1
perforin 1
ISO
DNA:SNP: :rs885822 (human)
RGD
PMID:20523897 PMID:21157294
RGD:6482808 RGD:6482819
NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
G
PRPF8
pre-mRNA processing factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:1,635,991...1,669,703
Ensembl chr17:1,532,579...1,565,254
G
PSMA4
proteasome 20S subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:57,468,590...57,477,390
Ensembl chr15:76,431,890...76,440,655
G
PSMA6
proteasome 20S subunit alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347
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PSMB10
proteasome 20S subunit beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr16:48,275,764...48,278,108
Ensembl chr16:67,663,344...67,666,359
G
PSMB4
proteasome 20S subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:126,758,604...126,760,989
Ensembl chr 1:130,404,234...130,406,638
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PSMC3
proteasome 26S subunit, ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:47,366,986...47,374,677
Ensembl chr11:47,920,295...47,927,654
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PSMC5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:57,906,934...57,911,551
Ensembl chr17:63,051,050...63,055,907
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PSMD13
proteasome 26S subunit, non-ATPase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:233,691...250,184
Ensembl chr11:275,304...294,685
G
PSMD3
proteasome 26S subunit, non-ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:17,291,020...17,308,202
Ensembl chr17:17,511,189...17,528,382
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PSMD6
proteasome 26S subunit, non-ATPase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 3:63,912,457...63,925,443
Ensembl chr 3:65,291,696...65,304,861
G
PSMD8
proteasome 26S subunit, non-ATPase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:35,468,519...35,477,802
Ensembl chr19:44,040,252...44,049,265
G
PSME1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405
G
PSME2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296
G
PSME3
proteasome activator subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:14,474,604...14,484,522
Ensembl chr17:14,700,660...14,711,735
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PSME4
proteasome activator subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr2A:54,007,224...54,113,557
Ensembl chr2A:54,919,094...55,024,551
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PTCH1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:21846384
RGD:5508195
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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RAB11B
RAB11B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:7,676,095...7,690,177
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RAB32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:144,339,323...144,354,885
G
RAN
RAN, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:128,497,407...128,503,049
Ensembl chr12:132,694,498...132,699,668
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RANBP1
RAN binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr22:2,877,954...2,888,035
Ensembl chr22:18,549,055...18,560,573
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SELP
selectin P
ISO
RGD
PMID:22156911
RGD:6218986
NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
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 chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
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SF3A3
splicing factor 3a subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:37,230,553...37,264,167
Ensembl chr 1:38,575,122...38,612,009
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SFPQ
splicing factor proline and glutamine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:34,444,105...34,461,012
Ensembl chr 1:35,632,917...35,641,551
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SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16204638
NCBI chr 9:34,471,362...34,474,459
G
SIRT1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19720090
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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SLC11A1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
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SNRPD3
small nuclear ribonucleoprotein D3 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr22:5,361,886...5,378,465
Ensembl chr22:22,227,328...22,246,676
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SOCS1
suppressor of cytokine signaling 1
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr16:10,196,432...10,198,205
G
SOCS3
suppressor of cytokine signaling 3
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
G
SRF
serum response factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768
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SRSF1
serine and arginine rich splicing factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425
G
SRSF9
serine and arginine rich splicing factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:118,043,325...118,052,107
Ensembl chr12:121,417,557...121,425,708
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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 chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
G
TAF9
TATA-box binding protein associated factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:44,630,503...44,635,760
G
TLR3
toll like receptor 3
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar OMIM
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 chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8811349
NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
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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 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
G
TRIM5
tripartite motif containing 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15249687
NCBI chr11:5,798,336...5,819,876
Ensembl chr11:5,479,033...5,500,758
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U2AF1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086
G
VDR
vitamin D receptor
ISO
DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
G
YY1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:80,859,491...80,903,651
G
CXCL8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:27650493
RGD:39939071
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
NEFL
neurofilament light chain
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
G
TREM2
triggering receptor expressed on myeloid cells 2
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 6:40,735,483...40,740,208
Ensembl chr 6:42,043,900...42,048,578
G
CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18008231
RGD:8551830
NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
G
FOXP3
forkhead box P3
treatment
ISO
RGD
PMID:27284313
RGD:38456006
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
G
NEFL
neurofilament light chain
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
G
TREM2
triggering receptor expressed on myeloid cells 2
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 6:40,735,483...40,740,208
Ensembl chr 6:42,043,900...42,048,578
G
CXCL8
C-X-C motif chemokine ligand 8
susceptibility
ISO
DNA:SNP:promoter:g.-251A>T (rs4073) (human)
RGD
PMID:20015396
RGD:150520200
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
G
IL10
interleukin 10
no_association severity
ISO
DNA:SNP:promoter:−819T>C, −592A>C (human) DNA:haplotype: : DNA:SNP, haplotype:promoter:−1082G>A (human) protein:increased expression:tear DNA:SNP:promoter:−1082G>A (human)
RGD
PMID:11023480 PMID:15789056 PMID:17947295 PMID:18628987
RGD:7365037 RGD:7365053 RGD:7365072 RGD:7365085
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
G
IL17A
interleukin 17A
ISO
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
G
LOC100982859
class I histocompatibility antigen, Gogo-B*0101 alpha chain
ISO
DNA:polymorphism:cds:HLA-B*14 (human, Tanzanian)
RGD
PMID:18824733
RGD:7364877
NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
G
TNF
tumor necrosis factor
ISO
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
COL1A1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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