vascular skin disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
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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Genes (249)

vascular skin disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

susceptibility
no_association

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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

acquired angioedema

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XII

disease_progression

RGD

NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530

G

coagulation factor II, thrombin

disease_progression

protein:increased expression:plasma:

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor VII

disease_progression

RGD

NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610

G

kininogen 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555

G

serpin family G member 1

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:9734886 PMID:23406939

NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034

G

X-prolyl aminopeptidase 2

susceptibility

ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors

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

angioedema

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

coagulation factor XII

DNA:missense:exon:T309K,T309R
ClinVar Annotator: match by term: Angioedema

PMID:16638441 PMID:25741868 PMID:16638441

NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530

G

plasminogen activator, tissue type

CTD Direct Evidence: marker/mechanism

PMID:16184341 PMID:18453163 PMID:20547619

NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223

G

RT1 class II, locus Bb

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618

G

serpin family G member 1

susceptibility

DNA:mutations:exon
ClinVar Annotator: match by term: Angioedema

PMID:11112899 PMID:14635117 PMID:18758157 PMID:24456027 PMID:25741868 More...

NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034

G

synaptotagmin-like 2

ClinVar Annotator: match by term: Angioedema

NCBI chr 1:144,272,870...144,379,310
Ensembl chr 1:144,273,360...144,379,222

G

X-prolyl aminopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)

RGD

NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709

G

angiotensin I converting enzyme

susceptibility
no_association

DNA:deletion:intron:IVS16+1464-1751del (human)

RGD

PMID:15961928 PMID:15045629

RGD:7829810, RGD:8142349

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497

G

catalase

protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12074830 PMID:17206395

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

susceptibility

DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)

RGD

PMID:19782713 PMID:12712358

RGD:8548882, RGD:8549488

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:132,433,711...132,439,266

G

C-C motif chemokine receptor 5

no_association

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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

CD40 ligand

protein:increased expression:plasma

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634

G

complement factor B

RGD

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

carboxypeptidase B2

RGD

NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

DNA:SNPs: :1661A>G,49C>A(human)

RGD

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 1, subfamily a, polypeptide 1

DNA:SNPs: :4889A>G, 4887C>A (human)

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

7-dehydrocholesterol reductase

associated with uveitis; DNA:SNP:CDS:rs12785878 (human)

RGD

NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447

G

coagulation factor V

no_association

DNA:mutation: :1691G>A (human)

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

RGD

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 3A

susceptibility

DNA:SNP:exon:p.F158V (rs396991)(human)

RGD

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

RGD

NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079

G

intercellular adhesion molecule 1

susceptibility
no_association

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 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:

RGD

PMID:21334264 PMID:2154346

RGD:8142356, RGD:8142377

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

DNA:missense mutation:cds:1217A>T(D406V)(human)

RGD

NCBI chr X:157,358,279...157,397,563
Ensembl chr X:152,216,596...152,239,499

G

interleukin 10

disease_progression
onset
susceptibility
treatment

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 More...

RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 17A

protein:increased expression:plasma (human)

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

susceptibility
no_association

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 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 1 beta

protein:increased expression:serum

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

protein:increased expression:serum

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

DNA:polymorphism:promoter (human)

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21 receptor

RGD

NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522

G

interleukin 23 receptor

susceptibility

DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);

RGD

PMID:22483685 PMID:20375120

RGD:8549550, RGD:8549565

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 4

DNA:polymorphisms:promoter:-33T>C (human)

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

protein:increased secretion:monocyte:

RGD

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 8

susceptibility

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 chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829

G

integrin subunit alpha 2

susceptibility

RGD

NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:46,523,948...46,621,481

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,348,424...191,386,228
Ensembl chr 1:181,918,183...181,955,732

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

RGD

NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600

G

mannose binding lectin 2

severity
susceptibility

protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)

RGD

PMID:15693089 PMID:15730518

RGD:1582155, RGD:1582154

NCBI chr 1:237,429,873...237,465,567

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

microRNA 155

miRNA:increased expression:peripheral blood mononuclear cell

RGD

PMID:30366049 PMID:27156371

RGD:21409751, RGD:25671481

NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718

G

matrix metallopeptidase 2

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

RGD

PMID:22116092 PMID:17949555

RGD:8547820, RGD:8657044

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

RGD

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

nucleotide-binding oligomerization domain containing 2

susceptibility
no_association

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)

PMID:28492532 PMID:19748964 PMID:15515785

RGD:8158059, RGD:13204711

NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 3

susceptibility
no_association

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 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360

G

protein Z, vitamin K-dependent plasma glycoprotein

RGD

NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480

G

proline-serine-threonine phosphatase-interacting protein 1

ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580

G

protein tyrosine phosphatase, non-receptor type 22

no_association

DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)

RGD

PMID:17660222 PMID:22396730

RGD:6484733, RGD:7829745

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:multiple (human)

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class I, locus CE13

no_association
disease_progression

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 chr20:3,314,491...3,322,815

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism: :DRB1*0802(human)

RGD

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus DMa

no_association

RGD

NCBI chr20:4,708,932...4,712,335
Ensembl chr20:4,707,028...4,710,432

G

RT1 class II, locus DMb

no_association

RGD

NCBI chr20:4,695,009...4,702,560
Ensembl chr20:4,693,103...4,700,340

G

RT1 class Ib, locus M5

DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)

RGD

NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775

G

serpin family E member 1

protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12074830 PMID:18341631

NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

RGD

NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101

G

superoxide dismutase 1

protein:increased activity:serum (human)

RGD

NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249

G

signal transducer and activator of transcription 3

no_association

DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)

RGD

PMID:22205606 PMID:23127549

RGD:6483021, RGD:8694309

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 4

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 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta 1

DNA:polymorphism:promoter:exon (human)

RGD

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

no_association
susceptibility

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 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr16:53,554,916...53,572,321
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

no_association
susceptibility

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 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

no_association

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 More...

RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease

PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

vitamin D receptor

no_association

DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)

RGD

PMID:21820934 PMID:21820934

RGD:8158077, RGD:8158077

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

protein:increased expression:serum

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

vimentin

RGD

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

G

von Willebrand factor

RGD

NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539

Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase epsilon, catalytic subunit

susceptibility

ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature

PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More...

NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939

familial cold autoinflammatory syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NLR family, pyrin domain containing 12

ClinVar Annotator: match by term: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome

PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 More...

NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934

G

NLR family, pyrin domain containing 3

ClinVar Annotator: match by term: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome

PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More...

NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811

G

phospholipase C, gamma 2

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome

NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930

familial cold autoinflammatory syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NLR family, pyrin domain containing 3

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 More...

NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811

familial cold autoinflammatory syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myeloid-associated differentiation marker

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2

NCBI chr 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035

G

NLR family, pyrin domain containing 12

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 More...

NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934

G

protein kinase C, gamma

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2

NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384

G

Rap guanine nucleotide exchange factor like 1

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2

NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371

familial cold autoinflammatory syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-carotene oxygenase 1

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3

NCBI chr19:62,058,061...62,094,923
Ensembl chr19:45,149,265...45,186,101

G

c-Maf-inducing protein

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3

NCBI chr19:62,213,402...62,419,443
Ensembl chr19:45,304,031...45,508,709

G

gigaxonin

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3

NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107

G

glycine cleavage system protein H

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3

NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792

G

polycystin 1 like 2

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3

NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532

G

phospholipase C, gamma 2

ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 More...

NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930

familial cold autoinflammatory syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dpy-30 histone methyltransferase complex regulatory subunit

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4

NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432

G

mediator of cell motility 1

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4

NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561

G

NLR family, CARD domain containing 4

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
OMIM:616115

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More...

NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248

G

solute carrier family 30 member 6

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4

NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785

G

spastin

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4

NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954

G

steroid 5 alpha-reductase 2

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4

NCBI chr 6:27,178,089...27,217,588
Ensembl chr 6:21,426,215...21,462,112

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4

NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268

Familial Thoracic Aortic Aneurysm 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

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 More...

NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554

G

cholesterol 25-hydroxylase

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chr 1:241,428,048...241,429,366
Ensembl chr 1:232,014,880...232,016,195

G

Fas cell surface death receptor

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

fibrillin 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25741868 PMID:36946977

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889

G

lipase A, lysosomal acid type

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chr 1:241,437,524...241,470,936
Ensembl chr 1:232,024,356...232,057,633

G

myosin heavy chain 11

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459

G

myosin light chain kinase

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532

NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25741868 PMID:28492532

NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690

G

SMAD family member 3

ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6

NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960

G

transforming growth factor, beta receptor 1

ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

PMID:25741868 PMID:27879313 PMID:28492532

NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777

hereditary angioedema

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XII

disease_progression

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 More...

RGD:11041802, RGD:11565081

NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530

G

coagulation factor II, thrombin

disease_progression

protein:increased expression:plasma:

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor VII

disease_progression

RGD

NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610

G

kininogen 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555

G

plasminogen

ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar Annotator: match by term: Hereditary angioedema with normal C1Inh

PMID:25741868 PMID:28492532 PMID:28795768 PMID:29548426 PMID:29952006 More...

NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:48,325,185...48,367,786

G

serpin family G member 1

treatment

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 More...

RGD:8661260, RGD:8661265

NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Hereditary angioneurotic edema

PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

Hereditary Angioedema 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen

ClinVar Annotator: match by term: Angioedema, hereditary, 4 | ClinVar Annotator: match by term: PLG-related condition

PMID:9858247 PMID:16849641 PMID:25741868 PMID:27976734 PMID:28492532 More...

NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:48,325,185...48,367,786

Hereditary Angioedema 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 1

ClinVar Annotator: match by term: ANGPT1-related condition | ClinVar Annotator: match by term: Angioedema, hereditary, 5

PMID:25741868 PMID:28492532 PMID:28601681 PMID:30689269

NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067

Hereditary Angioedema 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kininogen 1

ClinVar Annotator: match by term: Angioedema, hereditary, 6

PMID:25741868 PMID:31087670 PMID:33114181 PMID:37992228

NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555

Hereditary Angioedema 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myoferlin

ClinVar Annotator: match by term: Angioedema, hereditary, 7 | ClinVar Annotator: match by term: MYOF-related condition

PMID:25741868 PMID:28492532 PMID:32542751

NCBI chr 1:235,673,666...235,822,413
Ensembl chr 1:235,673,666...235,822,334

Hereditary Angioedema 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate-glucosamine 3-sulfotransferase 6

ClinVar Annotator: match by term: Angioedema, hereditary, 8

NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133

hereditary angioedema type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1s

CTD Direct Evidence: marker/mechanism

NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:157,430,117...157,442,303

G

coagulation factor XII

ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I

PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 More...

NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530

G

plasminogen

ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I

PMID:25741868 PMID:28492532 PMID:28795768 PMID:29548426 PMID:29952006 More...

NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:48,325,185...48,367,786

G

serpin family G member 1

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 | ClinVar Annotator: match by term: SERPING1-related condition

CTD
ClinVar
OMIM

PMID:1339401 PMID:1363816 PMID:1451784 PMID:1644161 PMID:1684567 More...

NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

hereditary angioedema type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin 1

ClinVar Annotator: match by term: Hereditary angioedema, type III

PMID:25741868 PMID:28492532

NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067

G

coagulation factor XII

ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: F12-related condition | ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION | ClinVar Annotator: match by term: Hereditary angioedema, type III
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8528215 PMID:9354665 PMID:9490684 PMID:9536098 PMID:10361128 More...

NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Hereditary angioedema, type III

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

Kawasaki disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:decreased expression:plasma

RGD

NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

advanced glycosylation end product-specific receptor

severity

RGD

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

BLK proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,802,701...41,841,004
Ensembl chr15:37,627,039...37,665,031

G

butyrophilin-like 2

susceptibility

DNA:SNP: :rs 1555115(human)

RGD

NCBI chr20:4,492,100...4,505,932
Ensembl chr20:4,489,517...4,503,341

G

C-C motif chemokine receptor 2

susceptibility

DNA:polymorphism,haplotype:cds:p.V64I(human)

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 5

susceptibility
treatment

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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

CD40 molecule

susceptibility

DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22446961 PMID:22446962 PMID:22645426

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

clusterin

treatment

RGD

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

C-reactive protein

susceptibility

DNA:SNP: :1444 C-->T(human)

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

Fc gamma receptor 2A

CTD Direct Evidence: marker/mechanism

PMID:22081228 PMID:22446962

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

Fms related receptor tyrosine kinase 1

RGD

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626

G

high mobility group box 1

protein:increased expression:serum

RGD

NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565

G

heme oxygenase 1

no_association

RGD

NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079

G

haptoglobin

RGD

NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523

G

heat shock protein family A (Hsp70) member 1A

DNA:polymorphism:5' utr:190G>C (rs1043618) (human)

RGD

NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227

G

heat shock protein family A (Hsp70) member 1 like

DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human)

RGD

NCBI chr20:3,853,496...3,860,223
Ensembl chr20:3,848,843...3,855,571

G

interleukin 13

RGD

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 18

susceptibility
disease_progression

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 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

RGD

PMID:22361326 PMID:8777922

RGD:6482661, RGD:7401221

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 4

treatment

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

inositol-trisphosphate 3-kinase C

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779

G

mannose binding lectin 1

RGD

NCBI chr16:17,063,232...17,069,271
Ensembl chr16:17,029,118...17,035,174

G

mannose binding lectin 2

susceptibility

DNA:polymorphism:cds:

RGD

PMID:24721319 PMID:15144709

RGD:8693744, RGD:8693748

NCBI chr 1:237,429,873...237,465,567

G

matrix metallopeptidase 9

protein:increased expression:blood

RGD

PMID:12626459 PMID:18311803

RGD:1580170, RGD:8547899

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

natriuretic peptide B

protein:increased expression:plasma

RGD

NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168

G

selectin P

RGD

NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845

G

TIMP metallopeptidase inhibitor 1

protein:increased expression:blood

RGD

NCBI chr X:3,766,509...3,772,578
Ensembl chr X:1,212,972...1,217,664

G

toll-like receptor 4

mRNA:increased expression:monocyte:

RGD

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

susceptibility
treatment

DNA:SNP: :-308G>A (human)

RGD

PMID:14703611 PMID:18710885 PMID:8777922 PMID:14744383

RGD:1580318, RGD:9495921, RGD:7401221, RGD:7401183

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

vascular endothelial growth factor A

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

Megalencephaly - Cutis Marmorata Telangiectatica Congenita

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome

PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757

NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

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

PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:16353168 More...

NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: Vascular Malformations and Overgrowth

PMID:25741868 PMID:34040190

NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita

PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More...

NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,665,457...18,674,065

G

Ras-like without CAAX 1

ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION

PMID:24469055 PMID:25741868 PMID:28492532

NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455

Melkersson-Rosenthal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class I, locus CE16

protein:increased expression:peripheral blood (human)

NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563

Muckle-Wells syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 receptor antagonist

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

NLR family, pyrin domain containing 3

ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome

PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More...

NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811

PAPA syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 3B

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318

G

similar to human chromosome 15 open reading frame 39

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941

G

coiled-coil domain containing 33

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370

G

ciliary microtubule associated protein 1C

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004

G

CDC-like kinase 3

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181

G

COMM domain containing 4

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760

G

cytochrome c oxidase subunit 5A

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:66,818,284...66,829,691
Ensembl chr 8:57,922,290...57,933,781

G

complexin 3

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297

G

C-terminal Src kinase

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292

G

chondroitin sulfate proteoglycan 4

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010

G

cytochrome P450, family 11, subfamily a, polypeptide 1

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 1, subfamily a, polypeptide 1

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily a, polypeptide 2

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312

G

enhancer of mRNA decapping 3

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671

G

electron transfer flavoprotein subunit alpha

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:55,835,134...55,891,969

G

family with sequence similarity 219, member B

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906

G

F-box protein 22

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

IMP U3 small nucleolar ribonucleoprotein 3

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414

G

ISL LIM homeobox 2

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790

G

immunoglobulin superfamily containing leucine-rich repeat

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130

G

immunoglobulin superfamily containing leucine-rich repeat 2

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650

G

lectin, mannose-binding, 1 like

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681

G

lysyl oxidase-like 1

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356

G

mannosidase, alpha, class 2C, member 1

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690

G

mannose phosphate isomerase

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:66,843,802...66,852,108
Ensembl chr 8:57,947,893...57,956,150

G

nei-like DNA glycosylase 1

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

neuregulin 4

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483

G

PML nuclear body scaffold

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971

G

phosphopantothenoylcysteine decarboxylase

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570

G

proline-serine-threonine phosphatase-interacting protein 1

ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: PAPA SYNDROME
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9262226 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 More...

NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580

G

protein tyrosine phosphatase, non-receptor type 9

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952

G

reticulocalbin 2

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251

G

ribonuclease P and MRP subunit p25

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732

G

secretory carrier membrane protein 2

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646

G

secretory carrier membrane protein 5

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027

G

S-phase cyclin A-associated protein in the ER

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122

G

semaphorin 7A (John Milton Hagen blood group)

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536

G

SIN3 transcription regulator family member A

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:57,481,573...57,536,192

G

snurportin 1

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912

G

sorting nexin 33

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538

G

stomatin like 1

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860

G

signaling receptor and transporter of retinol STRA6

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:58,549,736...58,568,860

G

transmembrane protein 266

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692

G

ubiquitin conjugating enzyme E2 Q2

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212

G

ubiquitin-like 7

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344

G

unc-51 like kinase 3

ClinVar Annotator: match by term: PAPA SYNDROME

NCBI chr 8:66,888,820...66,895,380
Ensembl chr 8:57,992,723...57,999,467

polyarteritis nodosa

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X3-C motif chemokine ligand 1

protein:increased expression:serum

RGD

NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

fibroblast growth factor 2

RGD

NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221

G

glial cell derived neurotrophic factor

RGD

NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209

G

GDNF family receptor alpha 1

RGD

NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473

G

vascular endothelial growth factor A

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

Polyarteritis Nodosa, Childhood-Onset

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARVCF, delta catenin family member

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

ATPase H+ transporting V1 subunit E1

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr 4:155,694,534...155,716,660
Ensembl chr 4:154,022,358...154,044,584

G

Bcl2-like 13

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr 4:155,728,284...155,785,058
Ensembl chr 4:154,056,127...154,108,985

G

BH3 interacting domain death agonist

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr 4:155,785,366...155,808,775
Ensembl chr 4:154,113,198...154,134,720

G

similar to human chromosome 22 open reading frame 39

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

cell division cycle 45

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

CECR2, histone acetyl-lysine reader

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

claudin 5

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:95,717,172...95,718,598
Ensembl chr11:82,211,475...82,214,992

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642

G

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

DiGeorge syndrome critical region gene 6

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

ess-2 splicing factor homolog

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

G protein subunit beta 1 like

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392

G

goosecoid homeobox 2

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

haloacid dehalogenase like hydrolase domain containing 5

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

histone cell cycle regulator

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

interleukin 17 receptor A

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

microtubule associated monooxygenase, calponin and LIM domain containing 3

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

mitochondrial ribosomal protein L40

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

peroxisomal biogenesis factor 26

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

proline dehydrogenase

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:96,414,275...96,431,604
Ensembl chr11:82,910,137...82,927,305

G

septin 5

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:95,877,946...95,883,738
Ensembl chr11:82,369,754...82,379,393

G

solute carrier family 25 member 1

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:96,560,054...96,563,071
Ensembl chr11:83,055,748...83,058,781

G

solute carrier family 25 member 18

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr 4:155,672,939...155,693,549
Ensembl chr 4:154,000,990...154,021,372

G

transport and golgi organization 2 homolog

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

T-box transcription factor 1

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

transmembrane protein 121B

ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

testis-specific serine kinase 2

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:83,086,578...83,087,933

G

tubulin, alpha 8

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

G

thioredoxin reductase 2

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:96,024,321...96,072,475
Ensembl chr11:82,519,999...82,568,156

G

ubiquitin recognition factor in ER associated degradation 1

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532

NCBI chr11:95,665,971...95,689,423
Ensembl chr11:82,161,619...82,185,087

G

ubiquitin specific peptidase 18

ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

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

pyoderma gangrenosum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MEFV innate immunity regulator, pyrin

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

matrix metallopeptidase 2

protein:increased expression:skin

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:skin

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

NLR family, pyrin domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811

G

nucleotide-binding oligomerization domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177

G

proline-serine-threonine phosphatase-interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580

Sneddon syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement

PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025

Takayasu's arteritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

protein:decreased expression:serum

RGD

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

interleukin 2

susceptibility
disease_progression

DNA:polymorphism::-300G>T(human)

RGD

PMID:17002904 PMID:2574087

RGD:8663467, RGD:8693331

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

MAX dimerization protein MLX

susceptibility

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

G

matrix metallopeptidase 3

treatment

RGD

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

disease_progression

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210

G

RT1 class I, locus CE16

susceptibility

DNA:polymorphism,haplotypes::HLA-A*3001 (human)

NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism,haplotype::DRB1*0802 (human)

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

temporal arteritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

RGD

NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226

G

chitinase 3 like 1

protein:increased secretion:serum (human)

RGD

NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787

G

corticotropin releasing hormone

no_association

DNA:polymorphism:promoter

RGD

NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919

G

C-reactive protein

protein:increased expression:blood:

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 2

RGD

NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199

G

delta like canonical Notch ligand 1

mRNA:increased expression:temporal artery

RGD

NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:56,312,066...56,320,179

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

Fc gamma receptor 2A

DNA:polymorphism: :p.H131R (human)

RGD

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 3A

DNA:polymorphism (human)

RGD

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

interferon gamma

severity

DNA:repeats:intron:

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 17A

severity
susceptibility

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 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

no_association

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 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 21 receptor

RGD

NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522

G

interleukin 4

DNA:SNP, haplotype: :rs2227284 (human)

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

jagged canonical Notch ligand 1

mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear

RGD

NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209

G

mannose binding lectin 2

DNA:polymorphism:cds:

RGD

NCBI chr 1:237,429,873...237,465,567

G

milk fat globule EGF and factor V/VIII domain containing

RGD

NCBI chr 1:142,474,027...142,489,431
Ensembl chr 1:133,064,665...133,080,073

G

matrix metallopeptidase 2

protein:increased activity:temporal artery

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

no_association

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 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

protein tyrosine phosphatase, non-receptor type 22

no_association

DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)

RGD

PMID:23946333 PMID:16078327

RGD:7829739, RGD:7829744

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Db1

onset

associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)

RGD

PMID:20064872 PMID:16846526

RGD:5147583, RGD:5147974

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

toll-like receptor 4

susceptibility
no_association

DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)

RGD

PMID:19531762 PMID:21586524

RGD:7777158, RGD:7777159

NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

urticaria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 2

susceptibility

DNA:polymorphism: :46A>G(human)

RGD

NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 5-lipoxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743

G

brain-derived neurotrophic factor

protein:increased expression:serum,skin:

RGD

NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615

G

C-C motif chemokine receptor 2

susceptibility

DNA:polymorphism,haplotype::190G>A(human)

RGD

NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 3

RGD

NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 5

DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human)

RGD

NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

C-reactive protein

protein:increased expression:serum

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

coagulation factor XII

ClinVar Annotator: match by term: Urticaria

PMID:16638441 PMID:25741868

NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530

G

coagulation factor II, thrombin

protein:increased expression:plasma

RGD

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

Fc epsilon receptor Ia

CTD Direct Evidence: marker/mechanism

PMID:16502481 PMID:20485159

NCBI chr13:88,218,427...88,224,723
Ensembl chr13:85,686,092...85,692,351

G

glutathione S-transferase mu 1

DNA:deletion: :
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16433794 PMID:16433794

NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411

G

histamine N-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:26,978,274...27,010,291
Ensembl chr 3:6,591,463...6,624,012

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 18

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 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Urticaria

PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More...

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

myeloperoxidase

CTD Direct Evidence: marker/mechanism

NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819

G

nerve growth factor receptor

protein:decreased expression:skin (human)

RGD

NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518

G

NLR family, pyrin domain containing 3

susceptibility

familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple

RGD

NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811

G

protein tyrosine phosphatase, non-receptor type 22

DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human)

RGD

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Bb

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20485159 PMID:20559009

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618

G

selectin E

CTD Direct Evidence: marker/mechanism

NCBI chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741

G

superoxide dismutase 2

protein:increased expression:skin

RGD

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

PMID:12121561 PMID:19250144 PMID:20485159

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958

Term paths to the root

Path 1
Term	Annotations
disease	19134
sensory system disease	7375
skin disease	4319
vascular skin disease	249
Behcet's disease	76
Cutis Marmorata Telangiectatica Congenita	0
Gardner-Diamond Syndrome	0
Kawasaki disease	32
Livedo Reticularis +	12
Malignant Atrophic Papulosis	0
Megalencephaly - Cutis Marmorata Telangiectatica Congenita	5
Sneddon syndrome	1
Takayasu's arteritis	8
angioedema +	18
angioma serpiginosum +	0
bacillary angiomatosis	0
livedoid vasculitis	0
polyarteritis nodosa +	39
pyoderma gangrenosum +	52
temporal arteritis	22
urticaria +	48
Path 2
Term	Annotations
disease	19134
disease of anatomical entity	18447
nervous system disease	14354
Neurologic Manifestations	10440
sensory system disease	7375
skin disease	4319
vascular skin disease	249
Behcet's disease	76
Cutis Marmorata Telangiectatica Congenita	0
Gardner-Diamond Syndrome	0
Kawasaki disease	32
Livedo Reticularis +	12
Malignant Atrophic Papulosis	0
Megalencephaly - Cutis Marmorata Telangiectatica Congenita	5
Sneddon syndrome	1
Takayasu's arteritis	8
angioedema +	18
angioma serpiginosum +	0
bacillary angiomatosis	0
livedoid vasculitis	0
polyarteritis nodosa +	39
pyoderma gangrenosum +	52
temporal arteritis	22
urticaria +	48

paths to the root