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: vascular skin disease
Accession: DOID:9540
browse the term
Definition: Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area.
Synonyms: exact_synonym: vascular skin diseases
primary_id: MESH:D017445
xref: ICD9CM:709.1 ; NCI:C35254
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Ager
advanced glycosylation end product-specific receptor
susceptibility no_association
ISO
associated with Diabetes Mellitus, Type 2;DNA:mutation, SNPs:exon, intron:pG82S, 1704G>T, 2184A>G (human) associated with Diabetes Mellitus, Type 2;DNA:polymorphisms, insertion, deletion:multiple (human)
RGD
PMID:11457670 PMID:11457670
RGD:8695968 , RGD:8695968
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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F2
coagulation factor II, thrombin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17535202
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F12
coagulation factor XII
disease_progression
ISO
RGD
PMID:9129025
RGD:11565081
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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F2
coagulation factor II, thrombin
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:9129025
RGD:11565081
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F7
coagulation factor VII
disease_progression
ISO
RGD
PMID:9129025
RGD:11565081
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors
ClinVar
PMID:1551674 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2253938 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2912069 PMID:3393536 PMID:4974311 PMID:5305539 PMID:5369703 PMID:5641629 PMID:5673160 PMID:6698555 PMID:7203486 PMID:7390473 PMID:7577654 PMID:7590755 PMID:7959686 PMID:8370579 PMID:8447319 PMID:8611726 PMID:9017974 PMID:9233561 PMID:9250351 PMID:9342374 PMID:10782016 PMID:11445808 PMID:12064920 PMID:12497642 PMID:12768444 PMID:14278484 PMID:15315792 PMID:15502081 PMID:15727905 PMID:16119988 PMID:16143877 PMID:18046504 PMID:18226470 PMID:18568599 PMID:19594365 PMID:21507207 PMID:22018328 PMID:22293322 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:23006493 PMID:23479361 PMID:24134566 PMID:24460025 PMID:24586352 PMID:25326637 PMID:25541721 PMID:25741868 PMID:27519946 PMID:27853304 PMID:28492532 PMID:29300386 PMID:31863082 PMID:32425388 PMID:32860008 PMID:33072997 PMID:33636823 PMID:34966093 PMID:35753512 PMID:35840819 PMID:36703223 More...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Kng1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9734886
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Serping1
serpin family G member 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9734886 PMID:23406939
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Xpnpep2
X-prolyl aminopeptidase 2
susceptibility
ISO
ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16175507 PMID:20625347 PMID:21898657 PMID:25741868
NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8458210
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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F12
coagulation factor XII
ISO
DNA:missense:exon:T309K,T309R ClinVar Annotator: match by term: Angioedema
ClinVar RGD
PMID:16638441 PMID:25741868 PMID:16638441
RGD:1601106
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16184341 PMID:18453163 PMID:20547619
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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RT1-Bb
RT1 class II, locus Bb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15784113
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15784113
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15784113
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Serping1
serpin family G member 1
susceptibility
ISO
DNA:mutations:exon ClinVar Annotator: match by term: Angioedema
ClinVar RGD
PMID:12402344
RGD:1600545
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Sytl2
synaptotagmin-like 2
ISO
ClinVar Annotator: match by term: Angioedema
ClinVar
PMID:28327206
NCBI chr 1:144,272,870...144,379,310
Ensembl chr 1:144,273,360...144,379,222
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Xpnpep2
X-prolyl aminopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16175507
NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)
RGD
PMID:22705826
RGD:8657073
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Ace
angiotensin I converting enzyme
susceptibility no_association
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15961928 PMID:15045629
RGD:7829810 , RGD:8142349
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21044750
RGD:8694430
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045206
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Cat
catalase
ISO
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12074830 PMID:17206395
RGD:9068907
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518A>G (human) protein:increased expression:plasma (human)
RGD
PMID:19782713 PMID:12712358
RGD:8548882 , RGD:8549488
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr1
C-C motif chemokine receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 8:123,556,286...123,561,841
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Ccr5
C-C motif chemokine receptor 5
no_association
ISO
protein:increased expression:blood, T cell (human) DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:15501397 PMID:15009175 PMID:17067435
RGD:4892106 , RGD:8551827 , RGD:8551814
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:22116092
RGD:8547820
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdk6
cyclin-dependent kinase 6
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cfb
complement factor B
ISO
RGD
PMID:6900632
RGD:7411737
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Clec2ml1
C-type lectin domain family 2, member M like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 4:162,768,988...162,779,951
Ensembl chr 4:162,768,994...162,779,899
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:15668188
RGD:1598474
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Crp
C-reactive protein
ISO
protein:increased expression:plasma,erythrocyte:
RGD
PMID:12180795
RGD:9491757
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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 chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:SNPs: :4889A>G, 4887C>A (human)
RGD
PMID:15088300
RGD:8552789
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dhcr7
7-dehydrocholesterol reductase
ISO
associated with uveitis; DNA:SNP:CDS:rs12785878 (human)
RGD
PMID:24184224
RGD:401901083
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9132327
RGD:8661801
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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F5
coagulation factor V
no_association
ISO
DNA:mutation: :1691G>A (human)
RGD
PMID:15077257
RGD:7394769
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:9836498
RGD:8662438
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fcgr3a
Fc gamma receptor 3A
susceptibility
ISO
DNA:SNP:exon:p.F158V (rs396991)(human)
RGD
PMID:19026120
RGD:5508432
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Hmox1
heme oxygenase 1
ISO
mRNA:decreased expression:mononulcear cell:
RGD
PMID:18234118
RGD:7777175
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1
intercellular adhesion molecule 1
susceptibility no_association
ISO
DNA:polymorphism: :p.K469E (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:p.R241G (human)
CTD RGD
PMID:8712863 PMID:12074830 PMID:12808331 PMID:11409120 PMID:10792421
RGD:8158115 , RGD:8547575 , RGD:8158123
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
associated with Uveitis; protein:increased expression:aqueous humor: protein:increased expression:serum:
RGD
PMID:21334264 PMID:2154346
RGD:8142356 , RGD:8142377
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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 chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Il10
interleukin 10
disease_progression onset susceptibility treatment
ISO
DNA, protein:hypermethylation, decreased expression:promoter, serum DNA:SNP:promoter:-592A>C (rs1800872) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 PMID:29294320 PMID:21506890 More...
RGD:1598628 , RGD:14975256 , RGD:14975149 , RGD:14975131 , RGD:7364843
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human)
RGD
PMID:21455110
RGD:8698672
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
susceptibility no_association
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:21532063 PMID:16273766 PMID:17055358
RGD:4889844 , RGD:8655927 , RGD:8655926 , RGD:8655910 , RGD:8655897
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18r1
interleukin 18 receptor 1
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
DNA:polymorphism:promoter (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21724243
RGD:6892926
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP: :rs1884444(human) DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD
PMID:22483685 PMID:20375120
RGD:8549550 , RGD:8549565
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il4
interleukin 4
ISO
DNA:polymorphisms:promoter:-33T>C (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
protein:increased secretion:monocyte:
RGD
PMID:8164212
RGD:7829752
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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:329955373 , RGD:329902079
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:12412731
RGD:1582300
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
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Itgam
integrin subunit alpha M
ISO
protein:increased expression:neutrophil (human)
RGD
PMID:21719422
RGD:329901843
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Mbl2
mannose binding lectin 2
severity susceptibility
ISO
protein:decreased secretion:serum (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:15693089 PMID:15730518
RGD:1582155 , RGD:1582154
NCBI chr 1:228,016,439...228,024,736
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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 chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mir155
microRNA 155
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:30366049 PMID:27156371
RGD:21409751 , RGD:25671481
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17949555
RGD:8657044
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:plasma, platelets
RGD
PMID:22116092 PMID:17949555
RGD:8547820 , RGD:8657044
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:15663505
RGD:8552650
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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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)
ClinVar RGD
PMID:28492532 PMID:19748964 PMID:15515785
RGD:8158059 , RGD:13204711
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos3
nitric oxide synthase 3
susceptibility no_association
ISO
DNA:snp:cds:p.E298D (human) DNA:duplication:intron:g.IVS4?-?+27 (human) DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD
PMID:11908569 PMID:21957880 PMID:15705632 PMID:16463158
RGD:7771576 , RGD:7775050 , RGD:7775048 , RGD:7771577
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:15377545
RGD:8547573
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Proz
protein Z, vitamin K-dependent plasma glycoprotein
ISO
RGD
PMID:14507116
RGD:1580692
NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
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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 chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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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 chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human)
RGD
PMID:23396137
RGD:7483565
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13
RT1 class I, locus CE13
no_association disease_progression
ISO
DNA:polymorphisms:cds:HLA-B*51 (human) severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) DNA:polymorphisms:cds:HLA-B*15 (human)
RGD
PMID:16101830 PMID:11426025 PMID:12622781
RGD:7364873 , RGD:7364939 , RGD:7364918
NCBI chr20:3,314,830...3,318,106
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :DRB1*0802(human)
RGD
PMID:1358857
RGD:7365104
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-DMa
RT1 class II, locus DMa
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
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RT1-DMb
RT1 class II, locus DMb
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
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RT1-M5
RT1 class Ib, locus M5
ISO
DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
RGD
PMID:11426025
RGD:7364939
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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Serpine1
serpin family E member 1
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12074830 PMID:18341631
RGD:8547693
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:polymorphism:intron (human)
RGD
PMID:18998137
RGD:5684936
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:serum (human)
RGD
PMID:12458889
RGD:1580846
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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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)
CTD RGD
PMID:23291587 PMID:20438790 PMID:23001997
RGD:8661713 , RGD:8661718
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tgfb1
transforming growth factor, beta 1
ISO
DNA:polymorphism:promoter:exon (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
no_association susceptibility
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:intestine: DNA:polymorphism: :12408G>A(human) DNA:SNPs: : rs2289318,rs3804099(human)
RGD
PMID:23908180 PMID:18336589 PMID:19796535 PMID:24255044
RGD:8552883 , RGD:8552915 , RGD:8552888 , RGD:8552885
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:23908180
RGD:8552883
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
no_association susceptibility
ISO
mRNA:increased expression:mononulcear cell: mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) DNA:SNP:3'UTR: rs7037117(human)
RGD
PMID:18234118 PMID:18336589 PMID:19796535 PMID:18408113
RGD:7777175 , RGD:8552915 , RGD:8552888 , RGD:7777176
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (human) DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) associated with Uveitis;protein:increased expression:aqueous humor: protein:increased expression:serum
RGD
PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 PMID:14600787 More...
RGD:7394759 , RGD:12904048 , RGD:12904040 , RGD:12904036 , RGD:8142356 , RGD:7401213
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum ClinVar Annotator: match by term: Behcet disease
ClinVar RGD
PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787
RGD:7401213
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934 PMID:21820934
RGD:8158077 , RGD:8158077
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum
RGD
PMID:15257411
RGD:8655578
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vwf
von Willebrand factor
ISO
RGD
PMID:15849757
RGD:1580642
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature
CTD OMIM ClinVar
PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 PMID:21157497 PMID:23230001 PMID:23263490 PMID:23636398 PMID:24033266 PMID:24501277 PMID:25079317 PMID:25370038 PMID:25529843 PMID:25559809 PMID:25642631 PMID:25741868 PMID:25860647 PMID:25948378 PMID:26302956 PMID:26467025 PMID:26822575 PMID:27153395 PMID:27379089 PMID:27683556 PMID:28050010 PMID:28492532 PMID:29120461 PMID:29212164 PMID:29641532 PMID:29755653 PMID:29758562 PMID:29987844 PMID:30049826 PMID:30194485 PMID:30362666 PMID:30503519 PMID:30827058 PMID:32424176 PMID:32546565 PMID:32792570 PMID:34326862 PMID:35264596 More...
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 More...
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Plcg2
phospholipase C, gamma 2
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:25741868
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Nlrp3
NLR family, pyrin domain containing 3
ISO ISS
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 OMIM:120100
OMIM ClinVar MouseDO
PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12483741 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15231984 PMID:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16449034 PMID:16646042 PMID:16802372 PMID:16871551 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17284928 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18063752 PMID:18080732 PMID:18174231 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20131270 PMID:20159265 PMID:20182451 PMID:20472245 PMID:20506209 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21637346 PMID:21702021 PMID:21810457 PMID:22128899 PMID:22146561 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27548431 PMID:27612399 PMID:27650144 PMID:27692610 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28501347 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29152264 PMID:29159471 PMID:29163488 PMID:29322034 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30069026 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30772614 PMID:30808881 PMID:31172726 PMID:31442672 PMID:32082075 PMID:32199921 PMID:32477355 PMID:33020839 PMID:33329557 PMID:34099780 PMID:35668534 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Myadm
myeloid-associated differentiation marker
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035
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Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25064839 PMID:25640679 PMID:25741868 PMID:26508570 PMID:27314497 PMID:27633793 PMID:28166811 PMID:28492532 PMID:29500522 PMID:30783801 PMID:30788684 PMID:30858956 PMID:31155445 PMID:31820221 PMID:32888943 PMID:33042144 PMID:34975878 More...
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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Prkcg
protein kinase C, gamma
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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Rapgefl1
Rap guanine nucleotide exchange factor like 1
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371
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Plcg2
phospholipase C, gamma 2
ISO
ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 PMID:24869598 PMID:25640679 PMID:25741868 PMID:27577878 PMID:28166811 PMID:28492532 PMID:29590070 PMID:29921932 PMID:30273710 PMID:30344948 PMID:30619256 PMID:31853824 PMID:32047491 PMID:32185379 PMID:32671674 PMID:33859323 PMID:33936634 PMID:34329649 PMID:35753512 More...
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Dpy30
dpy-30 histone methyltransferase complex regulatory subunit
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
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Memo1
mediator of cell motility 1
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
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Nlrc4
NLR family, CARD domain containing 4
ISO ISS
OMIM:616115 ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
OMIM MouseDO ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24033266 PMID:25217959 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28492532 PMID:29326099 PMID:29778503 PMID:30783801 PMID:30864118 PMID:32081864 PMID:32529290 PMID:33822359 PMID:34248956 More...
NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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Slc30a6
solute carrier family 30 member 6
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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Spast
spastin
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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Srd5a2
steroid 5 alpha-reductase 2
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:16199547 PMID:17576681 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22001912 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22753406 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23041370 PMID:23099432 PMID:23142374 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25504618 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27146836 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:27611364 PMID:28074886 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28848449 PMID:28855619 PMID:29202781 PMID:29300374 PMID:29543232 PMID:29687370 PMID:29867215 PMID:29907982 PMID:30056620 PMID:30341550 PMID:30739908 PMID:30975232 PMID:31731876 PMID:31911919 PMID:32093627 PMID:32464348 PMID:32544455 PMID:33513575 PMID:33824467 PMID:34422331 PMID:35567597 PMID:35754816 PMID:36053285 PMID:36440024 PMID:37042257 More...
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Ch25h
cholesterol 25-hydroxylase
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:28492532
NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:28492532
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:28492532
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar
PMID:25741868
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
PMID:25741868 PMID:27879313 PMID:28492532
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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F12
coagulation factor XII
disease_progression
ISO
DNA:deletion mutations:exon,intron: ClinVar Annotator: match by term: Hereditary angioneurotic edema CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:19477491 PMID:20490261 PMID:22920075 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:27130860 PMID:28492532 PMID:30943683 PMID:21849258 PMID:9129025 More...
RGD:11041802 , RGD:11565081
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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F2
coagulation factor II, thrombin
disease_progression
ISO
protein:increased expression:plasma:
RGD
PMID:9129025
RGD:11565081
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F7
coagulation factor VII
disease_progression
ISO
RGD
PMID:9129025
RGD:11565081
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Kng1
kininogen 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9734886
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar Annotator: match by term: Hereditary angioedema with normal C1Inh | ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar
PMID:25741868 PMID:28492532 PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33114181 PMID:33799813 PMID:35100351 More...
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Serping1
serpin family G member 1
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Hereditary angioneurotic edema
CTD ClinVar RGD
PMID:9734886 PMID:19477491 PMID:23406939 PMID:23634741 PMID:23844784 PMID:23866957 PMID:15356570 PMID:22800873 More...
RGD:8661260 , RGD:8661265
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar
PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:22920075 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:27130860 PMID:28492532 PMID:30943683 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Angioedema, hereditary, 4 | ClinVar Annotator: match by term: PLG-related condition
OMIM ClinVar
PMID:9858247 PMID:16849641 PMID:25741868 PMID:27976734 PMID:28492532 PMID:28795768 PMID:29548426 PMID:29952006 PMID:29987869 PMID:33114181 PMID:33799813 PMID:34355501 PMID:35100351 More...
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Angpt1
angiopoietin 1
ISO
ClinVar Annotator: match by term: Angioedema, hereditary, 5
OMIM ClinVar
PMID:28492532 PMID:28601681 PMID:30689269
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Kng1
kininogen 1
ISO
ClinVar Annotator: match by term: Angioedema, hereditary, 6
OMIM ClinVar
PMID:25741868 PMID:31087670 PMID:33114181
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Myof
myoferlin
ISO
ClinVar Annotator: match by term: Angioedema, hereditary, 7 | ClinVar Annotator: match by term: MYOF-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32542751
NCBI chr 1:235,673,666...235,822,413
Ensembl chr 1:235,673,666...235,822,334
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Hs3st6
heparan sulfate-glucosamine 3-sulfotransferase 6
ISO
ClinVar Annotator: match by term: Angioedema, hereditary, 8
OMIM ClinVar
PMID:33508266
NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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C1s
complement C1s
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3184114
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I
ClinVar
PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:22920075 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:27130860 PMID:28492532 More...
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Serping1
serpin family G member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency
CTD ClinVar OMIM
PMID:1339401 PMID:1363816 PMID:1451784 PMID:1644161 PMID:1684567 PMID:1885769 PMID:2296585 PMID:2365061 PMID:2563376 PMID:2723063 PMID:2890659 PMID:3178731 PMID:3587308 PMID:8396558 PMID:8755917 PMID:9536098 PMID:11112899 PMID:12402344 PMID:15806011 PMID:16813612 PMID:17137866 PMID:17576681 PMID:18387221 PMID:18535392 PMID:18586324 PMID:18758157 PMID:20804470 PMID:20864152 PMID:21832835 PMID:22129507 PMID:22994404 PMID:23437219 PMID:24033266 PMID:24456027 PMID:25258140 PMID:25369003 PMID:25741868 PMID:26812872 PMID:28194776 PMID:28359783 PMID:28492532 PMID:29343682 PMID:29753808 PMID:30398465 PMID:30508583 PMID:30556912 PMID:30847342 PMID:31959500 PMID:31982983 PMID:32065705 PMID:33034800 PMID:35821062 More...
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I
ClinVar
PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:22920075 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:27130860 PMID:28492532 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Angpt1
angiopoietin 1
ISO
ClinVar Annotator: match by term: Hereditary angioedema, type III
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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F12
coagulation factor XII
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION | ClinVar Annotator: match by term: Hereditary angioedema, type III
OMIM CTD ClinVar
PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21690105 PMID:22920075 PMID:23188048 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:27130860 PMID:28492532 More...
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hereditary angioedema, type III
ClinVar
PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:22920075 PMID:24033266 PMID:25741868 PMID:25744496 PMID:25790805 PMID:27130860 PMID:28492532 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16982510
RGD:5686751
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:22337222
RGD:8695960
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446961
NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
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Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNP: :rs 1555115(human)
RGD
PMID:19882345
RGD:9685030
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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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 chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
susceptibility treatment
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human) DNA:polymorphisms, haplotype:multiple
RGD
PMID:17672867 PMID:15962231 PMID:20628649
RGD:8551811 , RGD:8551815 , RGD:8551812
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22446961 PMID:22446962 PMID:22645426
RGD:8547776
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:12563087
RGD:11352236
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Clu
clusterin
treatment
ISO
RGD
PMID:23956692
RGD:8975365
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Crp
C-reactive protein
susceptibility
ISO
DNA:SNP: :1444 C-->T(human)
RGD
PMID:18710885
RGD:9495921
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Eln
elastin
ISO
RGD
PMID:21356372
RGD:9585741
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fcgr2a
Fc gamma receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22081228 PMID:22446962
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:11839635
RGD:1582494
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18720262
RGD:8695977
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmox1
heme oxygenase 1
no_association
ISO
RGD
PMID:14521259
RGD:1598409
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
RGD
PMID:20957478
RGD:5147383
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:polymorphism:5' utr:190G>C (rs1043618) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Il13
interleukin 13
ISO
RGD
PMID:21958311
RGD:5684363
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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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:18484687 PMID:15345916 PMID:19288449
RGD:8655874 , RGD:8655924 , RGD:8655898
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
RGD
PMID:22361326 PMID:8777922
RGD:6482661 , RGD:7401221
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il4
interleukin 4
treatment
ISO
RGD
PMID:22367425
RGD:7829825
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Itpkc
inositol-trisphosphate 3-kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18084290
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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Mbl1
mannose binding lectin 1
ISO
RGD
PMID:24721319
RGD:8693744
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:24721319 PMID:15144709
RGD:8693744 , RGD:8693748
NCBI chr 1:228,016,439...228,024,736
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:blood
RGD
PMID:12626459 PMID:18311803
RGD:1580170 , RGD:8547899
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma
RGD
PMID:21410593
RGD:5685654
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Selp
selectin P
ISO
RGD
PMID:20079717
RGD:6478695
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:blood
RGD
PMID:12626459
RGD:1580170
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:monocyte:
RGD
PMID:18353240
RGD:7777156
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
susceptibility treatment
ISO
DNA:SNP: :-308G>A (human)
RGD
PMID:14703611 PMID:18710885 PMID:8777922 PMID:14744383
RGD:1580318 , RGD:9495921 , RGD:7401221 , RGD:7401183
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15470196
RGD:1580572
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome
ClinVar
PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum
OMIM ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:18829572 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21266528 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22228622 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23754335 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24459181 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26749308 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27191687 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28191889 PMID:28425981 PMID:28492532 PMID:28502725 PMID:28566443 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30231930 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32595695 PMID:32733937 PMID:32778138 PMID:33077954 PMID:34008892 PMID:34170046 PMID:34402524 PMID:34496175 PMID:34733958 PMID:34854542 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Vascular Malformations and Overgrowth
ClinVar
PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 PMID:34040190
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita
ClinVar
PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 More...
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION
ClinVar
PMID:24469055 PMID:25741868 PMID:28492532
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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RT1-CE16
RT1 class I, locus CE16
ISO
protein:increased expression:peripheral blood (human)
RGD
PMID:32045706
RGD:329961316
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:22146561
RGD:6906895
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15593220 PMID:16100350 PMID:16255047 PMID:16646042 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21702021 PMID:21810457 PMID:22128899 PMID:22146561 PMID:22193915 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27191192 PMID:27612399 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29322034 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30407166 PMID:30431487 PMID:30808881 PMID:32082075 PMID:32199921 PMID:33329557 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 PMID:16527883 PMID:17576681 PMID:19673875 PMID:19934105 PMID:20506269 PMID:22161697 PMID:22513199 PMID:23571383 PMID:24139496 PMID:25683018 PMID:25741868 PMID:25845478 PMID:26025129 PMID:26386126 PMID:27106250 PMID:27577878 PMID:28492532 PMID:28628471 PMID:28960754 PMID:29150835 PMID:29432774 PMID:30198636 PMID:30290665 PMID:30783801 PMID:31119601 PMID:31789267 PMID:32054657 PMID:32441320 PMID:32888943 PMID:33597285 PMID:34273117 PMID:34399798 PMID:34620178 PMID:35152348 PMID:35482138 More...
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:23470165
RGD:9068463
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Eln
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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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 chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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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 chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584
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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 chr 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985
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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 chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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C11h22orf39
similar to human chromosome 22 open reading frame 39
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 chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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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 chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cecr2
CECR2, histone acetyl-lysine reader
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 chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451
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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 chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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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 chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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Dgcr6
DiGeorge syndrome critical region gene 6
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 chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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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 chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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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 chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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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 chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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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 chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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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 chr 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277
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Hira
histone cell cycle regulator
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 chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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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 chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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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 chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
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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 chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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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 chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Prodh
proline dehydrogenase
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 chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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Septin5
septin 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 chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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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 chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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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 chr 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372
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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 chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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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 chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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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 chr 4:153,695,191...153,700,104
Ensembl chr 4:153,698,194...153,699,912
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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 chr11:83,086,578...83,087,933
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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 chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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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 chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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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 chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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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 chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Mefv
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:skin
RGD
PMID:21658319
RGD:8657060
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:decreased expression:serum
RGD
PMID:20579752
RGD:8695992
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Il2
interleukin 2
susceptibility disease_progression
ISO
DNA:polymorphism::-300G>T(human)
RGD
PMID:17002904 PMID:2574087
RGD:8663467 , RGD:8693331
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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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:30354298 PMID:23830516
RGD:401794441 , RGD:401824641
NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Mmp3
matrix metallopeptidase 3
treatment
ISO
RGD
PMID:23100088
RGD:8693315
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
disease_progression
ISO
RGD
PMID:23100088
RGD:8693315
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism,haplotypes::HLA-A*3001 (human)
RGD
PMID:17428358
RGD:401827100
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism,haplotype::DRB1*0802 (human)
RGD
PMID:17428358
RGD:401827100
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:15742444
RGD:1581162
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10616010
RGD:5024918
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crh
corticotropin releasing hormone
no_association
ISO
DNA:polymorphism:promoter
RGD
PMID:12051390
RGD:1581301
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Crp
C-reactive protein
ISO
protein:increased expression:blood:
RGD
PMID:15206651
RGD:9491785
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
ISO
RGD
PMID:9844760
RGD:11059502
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Dll1
delta like canonical Notch ligand 1
ISO
mRNA:increased expression:temporal artery
RGD
PMID:21220737
RGD:6482238
NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
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Eln
elastin
ISO
RGD
PMID:9101501
RGD:9585754
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :p.H131R (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
ISO
DNA:polymorphism (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Ifng
interferon gamma
severity
ISO
DNA:repeats:intron:
RGD
PMID:15675129
RGD:8157621
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
severity susceptibility
ISO
mRNA, protein:increased expression:temporal artery (human) DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD
PMID:22993227 PMID:24919468
RGD:8698666 , RGD:9068454
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
no_association
ISO
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD
PMID:20331879 PMID:20331879
RGD:8655865 , RGD:8655865
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:22147555
RGD:6892962
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il4
interleukin 4
ISO
DNA:SNP, haplotype: :rs2227284 (human)
RGD
PMID:15570643
RGD:7829811
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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 chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphism:cds:
RGD
PMID:12375325
RGD:8693752
NCBI chr 1:228,016,439...228,024,736
G
Mfge8
milk fat globule EGF and factor V/VIII domain containing
ISO
RGD
PMID:11748647
RGD:1582497
NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:temporal artery
RGD
PMID:17502363
RGD:8657040
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
no_association
ISO
protein:increased expression:temporal artery (human) protein:increased activity:temporal artery DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) DNA:SNP:CDS:rs2250889 (human) protein:increased expression:serum
RGD
PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867
RGD:1580575 , RGD:8657040 , RGD:8547902 , RGD:8547902 , RGD:8547826
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:polymorphism: :p.R620W (rs2476601) (human) DNA:polymorphism: :1858C>T (human)
RGD
PMID:23946333 PMID:16078327
RGD:7829739 , RGD:7829744
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Db1
RT1 class II, locus Db1
onset
ISO
associated with Polymyalgia Rheumatica;DNA:polymorphisms (human) DNA:polymorphism (human)
RGD
PMID:20064872 PMID:16846526
RGD:5147583 , RGD:5147974
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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 chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism: :46A>G(human)
RGD
PMID:18159608
RGD:8548486
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8458210
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Bdnf
brain-derived neurotrophic factor
ISO
protein:increased expression:serum,skin:
RGD
PMID:21676041
RGD:8657027
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype::190G>A(human)
RGD
PMID:23727176
RGD:8551831
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:15721839
RGD:6893392
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human)
RGD
PMID:23727176
RGD:8551831
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:22348297
RGD:6482310
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Urticaria
ClinVar
PMID:16638441 PMID:25741868
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:plasma
RGD
PMID:21488867
RGD:5147756
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fcer1a
Fc epsilon receptor Ia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:20485159
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16433794 PMID:16433794
RGD:5490559
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Hnmt
histamine N-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
CTD RGD
PMID:18204966 PMID:24490166 PMID:21692767
RGD:8655890 , RGD:8655894
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18204966
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Ngfr
nerve growth factor receptor
ISO
protein:decreased expression:skin (human)
RGD
PMID:12653731
RGD:5508479
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nlrp3
NLR family, pyrin domain containing 3
susceptibility
ISO
familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple
RGD
PMID:11687797
RGD:1600862
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human)
RGD
PMID:22722472
RGD:7829761
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Bb
RT1 class II, locus Bb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:20559009
RGD:5147574
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Sele
selectin E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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Sod2
superoxide dismutase 2
ISO
protein:increased expression:skin
RGD
PMID:12780723
RGD:8547524
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138248
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561 PMID:19250144 PMID:20485159
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vcam1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12121561
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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