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.
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Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:12367559
RGD:5683623
NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169
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Cbl
Cbl proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694012
NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
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Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Vasculitis
ClinVar
PMID:25741868
NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:23074996
RGD:8661749
NCBI chrNW_004955420:25,641,184...25,664,413
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Vasculitis
ClinVar
PMID:25741868
NCBI chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079
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Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460
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Il10
interleukin 10
ISO
RGD
PMID:16504995
RGD:1598487
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il18
interleukin 18
ISO
RGD
PMID:19717152
RGD:4889401
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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LOC102021597
alpha-1-antiproteinase S-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1684994
NCBI chrNW_004955438:17,920,200...17,929,105
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Mocos
molybdenum cofactor sulfurase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29935280
NCBI chrNW_004955402:22,754,034...22,808,428
Ensembl chrNW_004955402:22,754,064...22,808,167
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Mpo
myeloperoxidase
ISO
microscopic polyangiitis
RGD
PMID:21071471
RGD:5130969
NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:polymorphism:exon:p.E298D (human)
RGD
PMID:14583572
RGD:7775052
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Senp1
SUMO specific peptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chrNW_004955500:6,924,445...6,978,482
Ensembl chrNW_004955500:6,926,548...6,979,230
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Serpina3
serpin family A member 3
ISO
RGD
PMID:12685871
RGD:1580110
NCBI chrNW_004955438:17,758,763...17,766,113
Ensembl chrNW_004955438:17,758,718...17,766,180
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Csf3
colony stimulating factor 3
treatment
ISO
associated with Severe Congenital Neutropenia;
RGD
PMID:20100783
RGD:11039037
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Csf3
colony stimulating factor 3
ISO
protein:increased expression:serum:
RGD
PMID:23087180
RGD:11039411
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human)
RGD
PMID:19815671
RGD:7204687
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:23873874
RGD:11340221
NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:12148596
RGD:8662455
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Itgam
integrin subunit alpha M
ISO
associated with crescentic glomerulonephritis;protein:increased expression:monocyte (human)
RGD
PMID:18846416
RGD:7241813
NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
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Ltf
lactotransferrin
ISO
RGD
PMID:23201854
RGD:7243106
NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:urine (human)
RGD
PMID:17898039
RGD:7207083
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:urine (human)
RGD
PMID:17898039
RGD:7207083
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Mpo
myeloperoxidase
disease_progression
ISO
RGD
PMID:23085883
RGD:7174703
NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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Ptpn22
protein tyrosine phosphatase non-receptor type 22
susceptibility
ISO
DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD
PMID:22880107
RGD:11533997
NCBI chrNW_004955435:17,082,762...17,139,067
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Tlr2
toll like receptor 2
ISO
RGD
PMID:21190299
RGD:7240543
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tnf
tumor necrosis factor
severity
ISO
protein:increased expression:serum
RGD
PMID:19690440
RGD:7245518
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:serum, granulocyte
RGD
PMID:19690440
RGD:7245518
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:serum, granulocyte
RGD
PMID:19690440
RGD:7245518
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Large vessel vasculitis
ClinVar
NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
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LOC102010850
cytochrome P450 1A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366
NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17139375
NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
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Hck
HCK proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis
OMIM ClinVar
PMID:34536415
NCBI chrNW_004955422:28,934,512...28,986,998
Ensembl chrNW_004955422:28,932,653...28,986,998
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Abcb1
ATP binding cassette subfamily B member 1
ISO
DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)
RGD
PMID:22705826
RGD:8657073
NCBI chrNW_004955432:4,911,774...5,085,349
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Ada2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619
NCBI chrNW_004955454:5,341,822...5,355,383
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21044750
RGD:8694430
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045206
NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism protein:decreased activity:erythrocyte:
CTD RGD
PMID:12074830 PMID:17206395
RGD:9068907
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:22116092
RGD:8547820
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Cdk6
cyclin dependent kinase 6
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
NCBI chrNW_004955432:9,521,794...9,727,772
Ensembl chrNW_004955432:9,521,794...9,726,417
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Cfb
complement factor B
ISO
RGD
PMID:6900632
RGD:7411737
NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:15668188
RGD:1598474
NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:SNPs: :1661A>G,49C>A(human)
RGD
PMID:19563524
RGD:7411682
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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Dhcr7
7-dehydrocholesterol reductase
ISO
associated with uveitis; DNA:SNP:CDS:rs12785878 (human)
RGD
PMID:24184224
RGD:401901083
NCBI chrNW_004955422:15,119,155...15,136,771
Ensembl chrNW_004955422:15,119,173...15,136,771
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9132327
RGD:8661801
NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chrNW_004955418:15,827,560...15,859,720
Ensembl chrNW_004955418:15,830,371...15,859,720
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F5
coagulation factor V
no_association
ISO
DNA:mutation: :1691G>A (human)
RGD
PMID:15077257
RGD:7394769
NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
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Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:9836498
RGD:8662438
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Hmox1
heme oxygenase 1
ISO
mRNA:decreased expression:mononulcear cell:
RGD
PMID:18234118
RGD:7777175
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Icam1
intercellular adhesion molecule 1
no_association susceptibility
ISO
DNA:SNP:exon:p.R241G (human) DNA:polymorphism: :p.K469E (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331
RGD:8158115 RGD:8158123 RGD:8547575
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ifng
interferon gamma
ISO
associated with Uveitis; protein:increased expression:aqueous humor: protein:increased expression:serum:
RGD
PMID:2154346 PMID:21334264
RGD:8142356 RGD:8142377
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
DNA:missense mutation:cds:1217A>T(D406V)(human)
RGD
PMID:20412081
RGD:12791269
NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
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Il10
interleukin 10
susceptibility treatment onset disease_progression
ISO
DNA:SNP:promoter:-592A>C (rs1800872) (human) CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, serum
RGD CTD
PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 PMID:29294320 PMID:29719061 More...
RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human)
RGD
PMID:21455110
RGD:8698672
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il18
interleukin 18
no_association susceptibility
ISO
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063
RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il18r1
interleukin 18 receptor 1
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868
NCBI chrNW_004955470:7,854,995...7,887,810
Ensembl chrNW_004955470:7,854,988...7,887,883
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il2
interleukin 2
ISO
DNA:polymorphism:promoter (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21724243
RGD:6892926
NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNPs,haplotype::rs17375018, rs11209032(human); DNA:SNP: :rs1884444(human)
RGD
PMID:20375120 PMID:22483685
RGD:8549550 RGD:8549565
NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904
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Il4
interleukin 4
ISO
DNA:polymorphisms:promoter:-33T>C (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004955408:4,058,052...4,065,999
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Il6
interleukin 6
ISO
protein:increased secretion:monocyte:
RGD
PMID:8164212
RGD:7829752
NCBI chrNW_004955410:25,079,835...25,084,390
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Irf8
interferon regulatory factor 8
susceptibility
ISO
DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human) protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human) DNA:Hypermethylation
RGD
PMID:26794091 PMID:28592884 PMID:28881647
RGD:329902077 RGD:329902079 RGD:329955373
NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:12412731
RGD:1582300
NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004955493:7,397,813...7,435,420
Ensembl chrNW_004955493:7,397,991...7,439,070
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Itgam
integrin subunit alpha M
ISO
protein:increased expression:neutrophil (human)
RGD
PMID:21719422
RGD:329901843
NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201
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LOC102010850
cytochrome P450 1A1
ISO
DNA:SNPs: :4889A>G, 4887C>A (human)
RGD
PMID:15088300
RGD:8552789
NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
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LOC102023521
HLA class II histocompatibility antigen, DM beta chain
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chrNW_004955437:1,544,906...1,551,412
Ensembl chrNW_004955437:1,541,491...1,551,159
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LOC102023843
HLA class II histocompatibility antigen, DM alpha chain
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chrNW_004955437:1,558,806...1,562,294
Ensembl chrNW_004955437:1,558,911...1,562,162
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Mbl2
mannose binding lectin 2
susceptibility severity
ISO
DNA:polymorphisms:5' utr, exon:multiple (human) protein:decreased secretion:serum (human)
RGD
PMID:15693089 PMID:15730518
RGD:1582154 RGD:1582155
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330
NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17949555
RGD:8657044
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:plasma, platelets
RGD
PMID:17949555 PMID:22116092
RGD:8547820 RGD:8657044
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Nod2
nucleotide binding oligomerization domain containing 2
susceptibility no_association
ISO
DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) ClinVar Annotator: match by term: Behcet disease DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
RGD ClinVar
PMID:15515785 PMID:19748964 PMID:28492532
RGD:13204711 RGD:8158059
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
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Nos3
nitric oxide synthase 3
susceptibility no_association
ISO
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) DNA:duplication:intron:g.IVS4?-?+27 (human) DNA:snp:cds:p.E298D (human)
RGD
PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880
RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:15377545
RGD:8547573
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Proz
protein Z, vitamin K dependent plasma glycoprotein
ISO
RGD
PMID:14507116
RGD:1580692
NCBI chrNW_004955404:647,217...657,256
Ensembl chrNW_004955404:646,841...657,262
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Pstpip1
proline-serine-threonine phosphatase interacting protein 1
ISO
ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955450:1,876,553...1,908,269
Ensembl chrNW_004955450:1,876,409...1,908,185
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Ptpn22
protein tyrosine phosphatase non-receptor type 22
no_association
ISO
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)
RGD
PMID:17660222 PMID:22396730
RGD:6484733 RGD:7829745
NCBI chrNW_004955435:17,082,762...17,139,067
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Serpine1
serpin family E member 1
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12074830 PMID:18341631
RGD:8547693
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:polymorphism:intron (human)
RGD
PMID:18998137
RGD:5684936
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:serum (human)
RGD
PMID:12458889
RGD:1580846
NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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Stat3
signal transducer and activator of transcription 3
no_association
ISO
DNA:SNP: :rs2293152 (human) DNA:SNP: :rs744166, rs2293152 (human)
RGD
PMID:22205606 PMID:23127549
RGD:6483021 RGD:8694309
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
RGD CTD
PMID:20438790 PMID:23001997 PMID:23291587
RGD:8661713 RGD:8661718
NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
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Tgfb1
transforming growth factor beta 1
ISO
DNA:polymorphism:promoter:exon (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tlr2
toll like receptor 2
no_association susceptibility
ISO
DNA:polymorphism: :12408G>A(human) mRNA:increased expression:intestine: protein,mRNA:increased expression:peripheral blood mononuclear cell DNA:SNPs: : rs2289318,rs3804099(human)
RGD
PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044
RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tlr3
toll like receptor 3
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:23908180
RGD:8552883
NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
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Tlr4
toll like receptor 4
susceptibility no_association
ISO
DNA:SNP:3'UTR: rs7037117(human) mRNA:increased expression:intestine: mRNA:increased expression:mononulcear cell: DNA:polymorphism: :1896A>G,11196C>T(human)
RGD
PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535
RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tnf
tumor necrosis factor
no_association
ISO
associated with Uveitis;protein:increased expression:aqueous humor: DNA:SNP:promoter protein:increased expression:serum DNA:SNP:promoter:-308G>A (human) DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
RGD
PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 PMID:21334264 More...
RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934
RGD:8158077
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum
RGD
PMID:15257411
RGD:8655578
NCBI chrNW_004955437:9,527,445...9,541,908
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Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
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Vwf
von Willebrand factor
ISO
RGD
PMID:15849757
RGD:1580642
NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:serum (human)
RGD
PMID:21266446
RGD:11081158
NCBI chrNW_004955456:14,554,583...14,558,967
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
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Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853
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Il5
interleukin 5
severity
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Vtn
vitronectin
ISO
RGD
PMID:12126637
RGD:1580817
NCBI chrNW_004955481:4,765,078...4,768,027
Ensembl chrNW_004955481:4,765,193...4,771,019
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Tslp
thymic stromal lymphopoietin
ISO
associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human)
RGD
PMID:25889007
RGD:38596329
NCBI chrNW_004955418:4,041,529...4,045,534
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Il10
interleukin 10
ISO
DNA:SNP, haplotype:promoter
RGD
PMID:20720222
RGD:7364860
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il1b
interleukin 1 beta
ISO
RGD
PMID:19585364
RGD:7401211
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il6
interleukin 6
susceptibility
ISO
DNA:polymorphism:promoter:-174G>C(human) protein:increased expression:serum:
RGD
PMID:22025890
RGD:7829790
NCBI chrNW_004955410:25,079,835...25,084,390
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Tnf
tumor necrosis factor
disease_progression severity
ISO
protein:increased expression:serum: DNA:SNP, haplotype:promoter protein:increased expression:vitreous fluid:
RGD
PMID:19585364 PMID:20720222 PMID:21139707 PMID:21394064 PMID:21849807
RGD:7364860 RGD:7387275 RGD:7387277 RGD:7394772 RGD:7401211
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tgfbi
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Epithelial basement membrane dystrophy
OMIM ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532
NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:nasal cavity epithelium protein:increased expression:blood, T cell
RGD
PMID:11529927 PMID:12716450
RGD:4145634 RGD:6893409
NCBI chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353
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Cd36
CD36 molecule (CD36 blood group)
ISO
RGD
PMID:21412229
RGD:6893495
NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
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Cd40lg
CD40 ligand
ISO
RGD
PMID:21411717
RGD:5490596
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human)
RGD
PMID:12022356
RGD:7204724
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Igf1
insulin like growth factor 1
ISO
protein:increased expression:nasal cavity mucosa, blood vessel:
RGD
PMID:2772560
RGD:8548880
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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Il10
interleukin 10
ISO
RGD
PMID:11838849
RGD:1580480
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Thbd
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:20156770
RGD:5684985
NCBI chrNW_004955415:30,222,830...30,226,406
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Vtn
vitronectin
ISO
RGD
PMID:12126637
RGD:1580817
NCBI chrNW_004955481:4,765,078...4,768,027
Ensembl chrNW_004955481:4,765,193...4,771,019
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Agt
angiotensinogen
severity
ISO
DNA:missense mutation:cds:p.M235T (human) DNA:missense mutation:cds:p.T174M (human)
RGD
PMID:16521052 PMID:20702504
RGD:11039045 RGD:11039055
NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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Cd86
CD86 molecule
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Igf1
insulin like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il27
interleukin 27
ISO
mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"
RGD
PMID:33280050
RGD:126790550
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
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Kng1
kininogen 1
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chrNW_004955420:20,989,197...21,016,084
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:mutations:cds: DNA:mutation:exon:p. E148Q (human) DNA:mutations:exons:
RGD
PMID:20602240 PMID:22451026 PMID:25232290
RGD:11531116 RGD:7349346 RGD:7349347
NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
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Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:19967651
RGD:11552576
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16982510
RGD:5686751
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Ager
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:22337222
RGD:8695960
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446961
NCBI chrNW_004955403:52,825,397...52,874,007
Ensembl chrNW_004955403:52,832,604...52,874,264
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Btnl2
butyrophilin like 2
susceptibility
ISO
DNA:SNP: :rs 1555115(human)
RGD
PMID:19882345
RGD:9685030
NCBI chrNW_004955437:1,084,330...1,101,751
Ensembl chrNW_004955437:1,083,745...1,101,730
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:17672867
RGD:8551811
NCBI chrNW_004955420:25,641,184...25,664,413
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Cd40
CD40 molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)
CTD RGD
PMID:22446961 PMID:22446962 PMID:22645426
RGD:8547776
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:12563087
RGD:11352236
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Clu
clusterin
treatment
ISO
RGD
PMID:23956692
RGD:8975365
NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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Eln
elastin
ISO
RGD
PMID:21356372
RGD:9585741
NCBI chrNW_004955456:13,788,992...13,818,836
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Flt1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:11839635
RGD:1582494
NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18720262
RGD:8695977
NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
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Hmox1
heme oxygenase 1
no_association
ISO
RGD
PMID:14521259
RGD:1598409
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Il13
interleukin 13
ISO
RGD
PMID:21958311
RGD:5684363
NCBI chrNW_004955408:4,046,406...4,049,795
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Il18
interleukin 18
susceptibility disease_progression
ISO
DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human)
RGD
PMID:15345916 PMID:18484687 PMID:19288449
RGD:8655874 RGD:8655898 RGD:8655924
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il1b
interleukin 1 beta
ISO
RGD
PMID:8777922 PMID:22361326
RGD:6482661 RGD:7401221
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il4
interleukin 4
treatment
ISO
RGD
PMID:22367425
RGD:7829825
NCBI chrNW_004955408:4,058,052...4,065,999
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Itpkc
inositol-trisphosphate 3-kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18084290
NCBI chrNW_004955578:597,105...614,081
Ensembl chrNW_004955578:598,351...614,081
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:15144709 PMID:24721319
RGD:8693744 RGD:8693748
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:blood
RGD
PMID:12626459 PMID:18311803
RGD:1580170 RGD:8547899
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma
RGD
PMID:21410593
RGD:5685654
NCBI chrNW_004955486:2,054,775...2,056,130
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Selp
selectin P
ISO
RGD
PMID:20079717
RGD:6478695
NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:blood
RGD
PMID:12626459
RGD:1580170
NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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Tlr4
toll like receptor 4
ISO
mRNA:increased expression:monocyte:
RGD
PMID:18353240
RGD:7777156
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Tnf
tumor necrosis factor
susceptibility treatment
ISO
DNA:SNP: :-308G>A (human)
RGD
PMID:8777922 PMID:14703611 PMID:14744383 PMID:18710885
RGD:1580318 RGD:7401183 RGD:7401221 RGD:9495921
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15470196
RGD:1580572
NCBI chrNW_004955437:9,527,445...9,541,908
G
Ina
internexin neuronal intermediate filament protein alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chrNW_004955485:7,238,723...7,266,995
G
Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
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Selp
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
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Cx3cl1
C-X3-C motif chemokine ligand 1
severity
ISO
protein:increased expression:serum
RGD
PMID:19327232
RGD:9491765
NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:blood, T cell
RGD
PMID:19327232
RGD:9491765
NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
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Adm2
adrenomedullin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34434487
NCBI chrNW_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953
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Ada2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa
ClinVar
PMID:25741868
NCBI chrNW_004955454:5,341,822...5,355,383
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:23470165
RGD:9068463
NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
G
Eln
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chrNW_004955456:13,788,992...13,818,836
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
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Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853
G
Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chrNW_004955437:9,527,445...9,541,908
G
Ada2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
OMIM ClinVar
PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:22929023 PMID:24033266 PMID:24552284 PMID:24552285 PMID:24737293 PMID:25075844 PMID:25075845 PMID:25075846 PMID:25075847 PMID:25083540 PMID:25278816 PMID:25457153 PMID:25741868 PMID:25741905 PMID:25888558 PMID:26131734 PMID:26607704 PMID:26867732 PMID:26914925 PMID:26922074 PMID:27059682 PMID:27252897 PMID:27514238 PMID:27930337 PMID:28492532 PMID:28493328 PMID:28522451 PMID:28665179 PMID:28750028 PMID:28805790 PMID:28814775 PMID:28830446 PMID:28974505 PMID:28983775 PMID:28993957 PMID:29271561 PMID:29391253 PMID:29391272 PMID:29564582 PMID:29600946 PMID:29681619 PMID:29951947 PMID:29963054 PMID:30165497 PMID:30503522 PMID:30647181 PMID:30692987 PMID:30783801 PMID:31008556 PMID:31015188 PMID:31031743 PMID:31043544 PMID:31291964 PMID:31393689 PMID:31584751 PMID:31617030 PMID:31652311 PMID:31686313 PMID:31856934 PMID:31945408 PMID:32353633 PMID:32531373 PMID:32638197 PMID:32643137 PMID:32659374 PMID:32888943 PMID:32892503 PMID:33529688 PMID:33757531 PMID:34004258 PMID:34324127 PMID:34577178 PMID:36472692 PMID:37277582 More...
NCBI chrNW_004955454:5,341,822...5,355,383
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Arvcf
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971
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Atp6v1e1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,669,883...5,688,623
Ensembl chrNW_004955454:5,666,921...5,688,645
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Bcl2l13
BCL2 like 13
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,692,027...5,770,897
Ensembl chrNW_004955454:5,715,991...5,769,443
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Bid
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,776,656...5,785,500
Ensembl chrNW_004955454:5,777,667...5,783,118
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805
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Cecr2
cat eye syndrome chromosome region, candidate 2
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,581,985...5,643,685
Ensembl chrNW_004955454:5,581,981...5,640,712
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332
G
Cltcl1
clathrin heavy chain like 1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
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CUNH22orf39
chromosome unknown C22orf39 homolog
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,224,081...18,281,558
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979
G
Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760
G
Hdhd5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,284,936...5,294,969
Ensembl chrNW_004955454:5,285,365...5,301,045
G
Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,230,384...5,252,769
Ensembl chrNW_004955454:5,230,522...5,254,394
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LOC102009660
protein HIRA
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761
G
Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,820,291...5,983,262
Ensembl chrNW_004955454:5,820,299...5,983,101
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517
G
Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:6,097,251...6,115,430
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
G
Slc25a18
solute carrier family 25 member 18
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,648,255...5,668,754
Ensembl chrNW_004955454:5,648,255...5,668,754
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
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Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:5,260,179...5,268,675
G
Tssk2
testis specific serine kinase 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,846,491...18,847,485
G
Tuba8
tubulin alpha 8
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366
G
Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091
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Agt
angiotensinogen
ISO
RGD
PMID:19834028
RGD:11039401
NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human)
RGD
PMID:16799040
RGD:9491394
NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
G
Il6
interleukin 6
ISO
RGD
PMID:19834028
RGD:11039401
NCBI chrNW_004955410:25,079,835...25,084,390
G
Il10
interleukin 10
ISO
RGD
PMID:7593621
RGD:11049456
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il6
interleukin 6
treatment
ISO
RGD
PMID:1381315
RGD:11060272
NCBI chrNW_004955410:25,079,835...25,084,390
G
Lyn
LYN proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Autoinflammatory disease, systemic, with vasculitis | ClinVar Annotator: match by term: LAVLI SYNDROME | ClinVar Annotator: match by term: LYN-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:36122175 PMID:36932076
NCBI chrNW_004955454:15,025,967...15,111,142
Ensembl chrNW_004955454:15,035,979...15,111,142
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Csf3
colony stimulating factor 3
ISO
RGD
PMID:23087180
RGD:11039411
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23146691
NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
G
Ager
advanced glycosylation end-product specific receptor
ISO
protein:decreased expression:serum
RGD
PMID:20579752
RGD:8695992
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Il2
interleukin 2
disease_progression susceptibility
ISO
DNA:polymorphism::-300G>T(human)
RGD
PMID:2574087 PMID:17002904
RGD:8663467 RGD:8693331
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Mlx
MAX dimerization protein MLX
susceptibility
ISO
DNA:SNP:cd: p.Q139R A>G (rs665268) (human) DNA:missense mutation:cd: p.Q139R(rs665268) (human)
RGD
PMID:23830516 PMID:30354298
RGD:401794441 RGD:401824641
NCBI chrNW_004955451:16,460,737...16,464,529
Ensembl chrNW_004955451:16,459,879...16,464,529
G
Mmp9
matrix metallopeptidase 9
disease_progression
ISO
RGD
PMID:23100088
RGD:8693315
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10616010
RGD:5024918
NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
G
Crh
corticotropin releasing hormone
no_association
ISO
DNA:polymorphism:promoter
RGD
PMID:12051390
RGD:1581301
NCBI chrNW_004955444:12,989,210...12,991,300
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Csf2
colony stimulating factor 2
ISO
RGD
PMID:9844760
RGD:11059502
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Dll1
delta like canonical Notch ligand 1
ISO
mRNA:increased expression:temporal artery
RGD
PMID:21220737
RGD:6482238
NCBI chrNW_004955411:3,478,943...3,486,541
Ensembl chrNW_004955411:3,478,033...3,486,604
G
Eln
elastin
ISO
RGD
PMID:9101501
RGD:9585754
NCBI chrNW_004955456:13,788,992...13,818,836
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Ifng
interferon gamma
severity
ISO
DNA:repeats:intron:
RGD
PMID:15675129
RGD:8157621
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il17a
interleukin 17A
susceptibility severity
ISO
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human) mRNA, protein:increased expression:temporal artery (human)
RGD
PMID:22993227 PMID:24919468
RGD:8698666 RGD:9068454
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il18
interleukin 18
no_association
ISO
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
RGD
PMID:20331879
RGD:8655865
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:22147555
RGD:6892962
NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
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Il4
interleukin 4
ISO
DNA:SNP, haplotype: :rs2227284 (human)
RGD
PMID:15570643
RGD:7829811
NCBI chrNW_004955408:4,058,052...4,065,999
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Jag1
jagged canonical Notch ligand 1
ISO
mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear
RGD
PMID:21220737
RGD:6482238
NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphism:cds:
RGD
PMID:12375325
RGD:8693752
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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Mfge8
milk fat globule EGF and factor V/VIII domain containing
ISO
RGD
PMID:11748647
RGD:1582497
NCBI chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:temporal artery
RGD
PMID:17502363
RGD:8657040
NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp9
matrix metallopeptidase 9
no_association
ISO
protein:increased expression:serum protein:increased expression:temporal artery (human) DNA:SNP:CDS:rs2250889 (human) DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) protein:increased activity:temporal artery
RGD
PMID:8843867 PMID:15998676 PMID:17502363 PMID:18512818
RGD:1580575 RGD:8547826 RGD:8547902 RGD:8657040
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Ptpn22
protein tyrosine phosphatase non-receptor type 22
no_association
ISO
DNA:polymorphism: :1858C>T (human) DNA:polymorphism: :p.R620W (rs2476601) (human)
RGD
PMID:16078327 PMID:23946333
RGD:7829739 RGD:7829744
NCBI chrNW_004955435:17,082,762...17,139,067
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Tlr4
toll like receptor 4
susceptibility no_association
ISO
DNA:polymorphism: :896A>G(rs4986790)(human) DNA:polymorphism: :896A>G,1196C>T(human)
RGD
PMID:19531762 PMID:21586524
RGD:7777158 RGD:7777159
NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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Ager
advanced glycosylation end-product specific receptor
treatment
ISO
mRNA, protein:increased expression:femoral artery (rat)
RGD
PMID:23069071
RGD:7207785
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Crhr1
corticotropin releasing hormone receptor 1
ISO
mRNA:increased expression:femoral artery (rat)
RGD
PMID:19572944
RGD:5508315
NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825
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Eln
elastin
ISO
protein:increased expression:blood:
RGD
PMID:8763587
RGD:9585753
NCBI chrNW_004955456:13,788,992...13,818,836
G
Ucn
urocortin
ISO
mRNA:increased expression:femoral artery (rat)
RGD
PMID:19572944
RGD:5508315
NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641
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Vcam1
vascular cell adhesion molecule 1
ISO
protein:increased expression:femoral artery:
RGD
PMID:12086338 PMID:23069071
RGD:1580352 RGD:7207785
NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
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