Fever - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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:	Fever	go back to main search page
Accession:	DOID:9000972	browse the term
Definition:	An abnormal elevation of body temperature, usually as a result of a pathologic process.
Synonyms:	exact_synonym:	Fevers; Hyperthermia; Hyperthermias; Pyrexia; Pyrexias
	narrow_synonym:	EPISODIC FEVER
	primary_id:	MESH:D005334

show annotations for term's descendants Sort by:
Rat (434) Mouse (434) Human (12323) Chinchilla (401) Bonobo (443) Dog (429) Squirrel (411) Pig (421) Green Monkey (428) Naked Mole-rat (398) All
Genes (421)

Fever

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

NCBI chr 5:62,406,928...62,483,690
Ensembl chr 5:62,440,810...62,483,678

G

asparaginase

CTD Direct Evidence: marker/mechanism

G

cholecystokinin

CTD Direct Evidence: therapeutic

NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793

G

C-C motif chemokine ligand 5

NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118

G

cellular communication network factor 2

mRNA:increased expression:meninges (rat)

NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691

G

C-C motif chemokine receptor 5

PMID:15066130 PMID:23999490

RGD:2307192 RGD:8552232

NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895

G

cannabinoid receptor 1

NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602

G

corticotropin releasing hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

dopamine receptor D1

mRNA:increased expression:brain meninges, brain vasculature (rat)

NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976

G

EPH receptor A3

mRNA, protein:decreased expression:lung, liver

NCBI chr13:166,592,492...166,942,791
Ensembl chr13:166,592,493...166,942,767

G

epoxide hydrolase 1

CTD Direct Evidence: therapeutic

NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072

G

follicle stimulating hormone subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:30,395,769...30,399,282
Ensembl chr 2:30,395,018...30,399,274

G

glucose-6-phosphate dehydrogenase

associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human)

NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:7,195,556...7,321,071

G

heme oxygenase 1

protein:increased expression:glial cell

G

15-hydroxyprostaglandin dehydrogenase

mRNA:decreased expression:liver, lung

NCBI chr14:15,718,261...15,773,534
Ensembl chr14:15,718,678...15,760,767

G

heat shock transcription factor 1

associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat)

NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473

G

heat shock protein family B (small) member 1

protein:increased expression:glial cell

NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704

G

5-hydroxytryptamine receptor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr16:42,479,812...42,484,365
Ensembl chr16:42,478,923...42,484,304

G

5-hydroxytryptamine receptor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625

G

interferon gamma

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:3091246 PMID:18282668

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121

G

interleukin 1 receptor antagonist

CTD Direct Evidence: therapeutic

PMID:16096327 PMID:16455768

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 6

protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism

PMID:7537110 PMID:11852909 PMID:15384034 PMID:22042912

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

interleukin 6 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282

G

interleukin-1 beta-like

protein:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism

PMID:9952427 PMID:11852909 PMID:15384034 PMID:16455768 PMID:22143887 More...

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Episodic fever

PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More...

NCBI chr 3:38,934,573...38,948,609

G

mevalonate kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Fever

NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944

G

phospholipase A2 group IVA

protein:increased phosphorylation:lung

NCBI chr 9:127,853,581...128,164,825
Ensembl chr 9:127,859,051...128,162,638

G

phospholipase C gamma 2

ClinVar Annotator: match by term: Episodic fever

NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418

G

protein kinase C delta

CTD Direct Evidence: therapeutic

PMID:31422080 PMID:32437895

NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710

G

prostaglandin E receptor 3

NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286

G

prostaglandin E synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

PMID:21741371 PMID:25164664

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

serpin family E member 1

susceptibility

associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human):

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

superoxide dismutase 2

CTD Direct Evidence: therapeutic

NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560

G

steroidogenic acute regulatory protein

protein:decreased expression:testis (rat)

NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

toll like receptor 2

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

toll like receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291

G

toll like receptor 4

treatment

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

PMID:10379864 PMID:11852909 PMID:15384034

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

TNF receptor superfamily member 1A

susceptibility

CTD Direct Evidence: marker/mechanism
autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S

PMID:10902757 PMID:11175303

NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909

G

tryptophan hydroxylase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:35,917,159...36,016,981
Ensembl chr 5:35,918,370...36,017,509

G

TSC complex subunit 2

ClinVar Annotator: match by term: Episodic fever

NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371

G

vimentin

protein:increased expression:glial cell

NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170

Autoinflammation with Arthritis and Dyskeratosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NLR family pyrin domain containing 1

ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis

PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More...

NCBI chr12:51,479,968...51,495,540

AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TANK binding kinase 1

ClinVar Annotator: match by term: Autoinflammation with arthritis and vasculitis

PMID:25803835 PMID:26476236 PMID:32447396 PMID:34363755

NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963

AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SHANK associated RH domain interactor

ClinVar Annotator: match by term: Autoinflammation with episodic fever and immune dysregulation

NCBI chr 4:600,698...605,711
Ensembl chr 4:600,698...605,701

Autoinflammation with Episodic Fever and Lymphadenopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor interacting serine/threonine kinase 1

ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition

PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 More...

NCBI chr 7:1,841,143...1,880,705
Ensembl chr 7:1,841,239...1,880,699

Autoinflammation with Infantile Enterocolitis

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: Autoinflammation with infantile enterocolitis

NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496

G

mediator of cell motility 1

ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis

NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,096...107,658,455

G

NLR family CARD domain containing 4

ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)

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

NCBI chr 3:107,358,117...107,389,557

G

solute carrier family 30 member 6

ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis

NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337

G

spastin

ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis

NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926

G

steroid 5 alpha-reductase 2

ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis

NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis

NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169

Autoinflammation with Pulmonary and Cutaneous Vasculitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HCK proto-oncogene, Src family tyrosine kinase

ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis

NCBI chr17:35,708,549...35,751,590
Ensembl chr17:35,709,349...35,751,582

autoinflammation, antibody deficiency, and immune dysregulation syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phospholipase C gamma 2

ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated

PMID:16199547 PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 More...

NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060

Autoinflammation, Immune Dysregulation, and Eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IX alpha 3 chain

Oculoskeletal dysplasia 1

PMID:830631 PMID:1525714 PMID:3204050 PMID:11024291 PMID:11814684 More...

NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703

G

Janus kinase 1

ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition

PMID:21537335 PMID:24728327 PMID:25352124 PMID:25741868 PMID:28111307 More...

NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182

Autoinflammatory Disease, Familial, Behcet-Like-3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition

PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More...

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic

PMID:25741868 PMID:28492532 PMID:28600438 PMID:36926348

NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566

AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dedicator of cytokinesis 11

ClinVar Annotator: match by term: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | ClinVar Annotator: match by term: DOCK11 deficiency | ClinVar Annotator: match by term: Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia

PMID:25741868 PMID:36952639 PMID:37342957

NCBI chr X:97,068,488...97,267,528
Ensembl chr X:97,068,355...97,267,517

AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

E74 like ETS transcription factor 4

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | ClinVar Annotator: match by term: ELF4-related condition

PMID:25741868 PMID:27932483 PMID:28492532 PMID:34326534 PMID:35266071

NCBI chr X:106,617,747...106,661,340
Ensembl chr X:106,617,753...106,661,108

AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

deoxyribonuclease 2, lysosomal

ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome | ClinVar Annotator: match by term: DNASE2-related condition

PMID:9536098 PMID:17576681 PMID:24242851 PMID:25741868 PMID:28492532 More...

NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B (MDR/TAP), member 1

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

NCBI chr 9:93,049,955...93,146,469

G

angiotensin I converting enzyme

no_association
susceptibility

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

PMID:15045629 PMID:15961928

RGD:7829810 RGD:8142349

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

adenosine deaminase 2

ClinVar Annotator: match by term: Behcet's syndrome

PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619 PMID:35241284

NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200

G

catalase

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

PMID:12074830 PMID:17206395

NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452

G

chemokine (C-C motif) ligand 2

susceptibility

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

PMID:12712358 PMID:19782713

RGD:8548882 RGD:8549488

NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960

G

C-C motif chemokine receptor 5

no_association

DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
protein:increased expression:blood, T cell (human)

PMID:15009175 PMID:15501397 PMID:17067435

RGD:4892106 RGD:8551814 RGD:8551827

NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895

G

CD40 ligand

protein:increased expression:plasma

NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

complement factor B

NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179

G

carboxypeptidase B2

NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241

G

C-reactive protein, pentraxin-related

protein:increased expression:plasma,erythrocyte:

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

G

cytotoxic T-lymphocyte associated protein 4

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

NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861

G

cytochrome P450 family 1 subfamily A member 1

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

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

7-dehydrocholesterol reductase

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

NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,447

G

endothelin 1

protein:increased expression:plasma (human)

NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759

G

coagulation factor V

no_association

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

NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fc fragment of IgG receptor IIIa

susceptibility

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

NCBI chr 4:88,948,357...88,956,513

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

G

intercellular adhesion molecule 1

no_association
susceptibility

DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.K469E (human)

PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331

RGD:8158115 RGD:8158123 RGD:8547575

NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205

G

interferon gamma

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

PMID:2154346 PMID:21334264

RGD:8142356 RGD:8142377

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

NCBI chr X:125,035,575...125,056,445
Ensembl chr X:125,036,508...125,056,453

G

interleukin 10

susceptibility
onset
disease_progression
treatment

DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum

PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 More...

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

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 17A

protein:increased expression:plasma (human)

NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153

G

interleukin 18

no_association
susceptibility

DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)

PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063

RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927

NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr 3:51,803,383...51,844,758
Ensembl chr 3:51,803,175...51,844,684

G

interleukin 1 receptor antagonist

protein:increased expression:serum

G

interleukin 2

DNA:polymorphism:promoter (human)

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 21 receptor

NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152

G

interleukin 23 receptor

susceptibility

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

PMID:20375120 PMID:22483685

RGD:8549550 RGD:8549565

NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510

G

interleukin 4

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

NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365

G

interleukin 6

protein:increased secretion:monocyte:

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

interferon regulatory factor 8

susceptibility

DNA:Hypermethylation
protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)
DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)

PMID:26794091 PMID:28592884 PMID:28881647

RGD:329902077 RGD:329902079 RGD:329955373

NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406

G

integrin subunit alpha 2

susceptibility

NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,012

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107

G

interleukin-1 beta-like

protein:increased expression:serum

G

mannose binding lectin 2

susceptibility
severity

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

PMID:15693089 PMID:15730518

RGD:1582154 RGD:1582155

NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr 3:38,934,573...38,948,609

G

microRNA mir-155

miRNA:increased expression:peripheral blood mononuclear cell

PMID:27156371 PMID:30366049

RGD:21409751 RGD:25671481

NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902

G

matrix metallopeptidase 2

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

PMID:17949555 PMID:22116092

RGD:8547820 RGD:8657044

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

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:15515785 PMID:19748964 PMID:28492532

RGD:13204711 RGD:8158059

NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534

G

nitric oxide synthase 3

susceptibility
no_association

DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)

PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880

RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

paraoxonase 1

protein:decreased activity:serum (human)

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

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 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751

G

protein tyrosine phosphatase non-receptor type 22

no_association

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

PMID:17660222 PMID:22396730

RGD:6484733 RGD:7829745

NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099

G

serpin family E member 1

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

PMID:12074830 PMID:18341631

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

SLA-DM alpha chain

no_association

NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,497...25,137,966

G

MHC class II, DM beta

no_association

NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,119,282...25,128,236

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396

G

superoxide dismutase 1

protein:increased activity:serum (human)

NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729

G

signal transducer and activator of transcription 3

no_association

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

PMID:22205606 PMID:23127549

RGD:6483021 RGD:8694309

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

signal transducer and activator of transcription 4

DNA:SNP: :rs7574865 (human)
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism

PMID:20438790 PMID:23001997 PMID:23291587

RGD:8661713 RGD:8661718

NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472

G

transforming growth factor beta 1

DNA:polymorphism:promoter:exon (human)

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

toll like receptor 2

no_association
susceptibility

protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:polymorphism: :12408G>A(human)
mRNA:increased expression:intestine:
DNA:SNPs: : rs2289318,rs3804099(human)

PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044

RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

toll like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291

G

toll like receptor 4

susceptibility
no_association

mRNA:increased expression:mononulcear cell:
DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)

PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535

RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

G

tumor necrosis factor

no_association

DNA:SNP:promoter
DNA:SNP:promoter:-308G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)

PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 More...

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

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Behcet disease

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

NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909

G

vitamin D receptor

no_association

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

NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475

G

vascular endothelial growth factor A

protein:increased expression:serum

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

vimentin

NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170

G

von Willebrand factor

NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938

Chediak-Higashi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 2

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778

G

adenosine deaminase 2

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:24552284 PMID:24552285 PMID:24737293 PMID:25075844 PMID:25075845 More...

NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:24033266 PMID:25741868 PMID:28132693 PMID:28492532 PMID:31898847 More...

NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,924,333...56,082,209
Ensembl chr14:55,924,367...56,082,198

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:56,087,685...56,108,141
Ensembl chr14:56,085,353...56,108,141

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:25741868 PMID:28492532

NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858

G

caspase recruitment domain family member 14

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More...

NCBI chr12:2,248,337...2,275,015
Ensembl chr12:2,248,408...2,271,588

G

CD27 molecule

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:25741868 PMID:28492532

NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613

G

EDAR associated death domain

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848

G

elastase, neutrophil expressed

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More...

NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027

G

endoplasmic reticulum oxidoreductase 1 beta

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,056,756...55,122,182
Ensembl chr14:55,057,059...55,122,171

G

geranylgeranyl diphosphate synthase 1

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,908,674...55,923,988

G

G protein subunit gamma 4

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,652,743...55,725,085
Ensembl chr14:55,653,034...55,726,373

G

G protein-coupled receptor 137B

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,125,405...55,181,688
Ensembl chr14:55,125,409...55,181,670

G

HEAT repeat containing 1

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:54,821,073...54,870,873
Ensembl chr14:54,821,171...54,869,857

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More...

G

IL2 inducible T cell kinase

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532

NCBI chr16:66,010,766...66,082,263
Ensembl chr16:66,010,772...66,082,185

G

galectin 8

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:54,867,014...54,892,188
Ensembl chr14:54,867,021...54,892,049

G

lipin 2

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More...

NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition

PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More...

NCBI chr14:55,433,163...55,634,011
Ensembl chr14:55,433,597...55,633,484

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More...

NCBI chr 3:38,934,573...38,948,609

G

metabolism of cobalamin associated B

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205

G

mevalonate kinase

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More...

NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368

G

nidogen 1

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,239,327...55,346,948
Ensembl chr14:55,239,577...55,390,782

G

NLR family CARD domain containing 4

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32707200 PMID:34783940

NCBI chr 3:107,358,117...107,389,557

G

NLR family pyrin domain containing 12

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More...

NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More...

NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

G

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More...

NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534

G

perforin 1

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More...

NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202

G

proteasome 20S subunit beta 8

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532

NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,461...25,062,245

G

proline-serine-threonine phosphatase interacting protein 1

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138

NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751

G

RAB27A, member RAS oncogene family

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More...

NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Autoinflammatory syndrome

NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612

G

N-sulfoglucosamine sulfohydrolase

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More...

NCBI chr12:2,241,824...2,248,388
Ensembl chr12:2,241,840...2,248,376

G

SH2 domain containing 1A

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More...

NCBI chr X:101,824,602...101,847,265
Ensembl chr X:101,824,367...101,849,671

G

solute carrier family 7 member 7

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More...

NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402

G

structural maintenance of chromosomes flexible hinge domain containing 1

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335

G

stimulator of interferon response cGAMP interactor 1

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More...

NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198

G

syntaxin 11

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:24524345 PMID:25741868 PMID:28492532

NCBI chr 1:21,127,871...21,170,321
Ensembl chr 1:21,127,564...21,159,694

G

syntaxin binding protein 2

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More...

NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422

G

tubulin folding cofactor E

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More...

NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909

G

translocase of outer mitochondrial membrane 20

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr14:56,113,087...56,127,686
Ensembl chr14:56,113,192...56,127,677

G

unc-13 homolog D

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More...

NCBI chr12:5,573,428...5,598,914
Ensembl chr12:5,573,668...5,589,085

G

X-linked inhibitor of apoptosis

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More...

NCBI chr X:101,399,374...101,440,021
Ensembl chr X:101,399,812...101,440,013

Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis

PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More...

G

NFKB inhibitor alpha

ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis

NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277

CINCA syndrome

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 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome

PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 More...

NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

Cold Hypersensitivity

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel subfamily A member 1

associated with Peripheral Nerve Injuries;

NCBI chr 4:63,493,374...63,558,486
Ensembl chr 4:63,508,104...63,558,484

cold-induced sweating syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cardiotrophin like cytokine factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692

G

cytokine receptor like factor 1

ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 More...

NCBI chr 2:59,222,551...59,233,723
Ensembl chr 2:59,222,367...59,233,720

G

kelch like family member 7

CTD Direct Evidence: marker/mechanism

NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695

cold-induced sweating syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytokine receptor like factor 1

ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1

PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More...

NCBI chr 2:59,222,551...59,233,723
Ensembl chr 2:59,222,367...59,233,720

G

kelch like family member 7

ClinVar Annotator: match by term: Cold-induced sweating syndrome 1

PMID:21828050 PMID:25741868 PMID:27392078 PMID:30300710 PMID:31230720 More...

NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695

cold-induced sweating syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cardiotrophin like cytokine factor 1

ClinVar Annotator: match by term: Cold-induced sweating syndrome 2

PMID:16782820 PMID:20400119 PMID:25741868

NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692

cold-induced sweating syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kelch like family member 7

ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome

PMID:9536098 PMID:17576681 PMID:18414213 PMID:21828050 PMID:25741868 More...

NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695

Cryopyrin-Associated Periodic Syndromes

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

germinal center associated signaling and motility like

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:56,690,853...56,744,757
Ensembl chr 2:56,687,503...56,744,674

G

interleukin 17A

treatment

NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153

G

interleukin 1 receptor antagonist

G

olfactory receptor 6F1

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:56,347,655...56,348,578

G

olfactory receptor 2B11

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

PMID:28492532 PMID:29611406

NCBI chr 2:56,862,025...56,862,981
Ensembl chr 2:56,862,025...56,862,978

G

olfactory receptor 2G3

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:56,615,126...56,616,070
Ensembl chr 2:56,615,141...56,616,070

G

olfactory receptor 14A16-like

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:56,149,329...56,150,261

G

olfactory receptor 2W3

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:55,810,043...55,810,972
Ensembl chr 2:55,810,043...55,810,972

G

olfactory receptor 13G1

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:56,402,657...56,403,580
Ensembl chr 2:56,402,657...56,403,580

G

olfactory receptor 2C3-like

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:56,767,973...56,768,920
Ensembl chr 2:56,760,602...56,769,511

G

olfactory receptor 2G2-like

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:56,631,761...56,632,714
Ensembl chr 2:56,631,761...56,632,714

G

olfactory receptor 11L1

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:55,853,519...55,854,490
Ensembl chr 2:55,853,477...55,854,490

G

membrane metalloendopeptidase

CTD Direct Evidence: marker/mechanism

NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045

G

NLR family CARD domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:107,358,117...107,389,557

G

NLR family pyrin domain containing 12

ClinVar Annotator: match by term: Familial cold urticaria

PMID:25741868 PMID:28492532

NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria

PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 More...

NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

G

phospholipase C gamma 2

ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

PMID:16199547 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 More...

NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060

G

solute carrier family 6 member 5

Hyperekplexia (Startle disease), SLC6A5-related

PMID:6524730 PMID:21420493 PMID:30847549 PMID:33769611 PMID:38003185

NCBI chr 2:38,767,447...38,826,891
Ensembl chr 2:38,767,501...38,826,783

G

tripartite motif containing 58

ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome

NCBI chr 2:55,822,361...55,843,923
Ensembl chr 2:55,821,915...55,860,382

Familial Autoinflammatory Syndrome, with or without Immunodeficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY

PMID:25741868 PMID:32499645 PMID:32853638 PMID:33087723

NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967

Familial Behcet-Like Autoinflammatory Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABRA C-terminal like

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,432,314...25,447,016
Ensembl chr 1:25,367,112...25,447,594

G

Abelson helper integration site 1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:28,566,279...28,760,471
Ensembl chr 1:28,566,397...28,760,467

G

aldehyde dehydrogenase 8 family member A1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:29,060,682...29,083,815
Ensembl chr 1:29,060,701...29,083,143

G

ARFGEF family member 3

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:26,069,337...26,256,871
Ensembl chr 1:26,076,302...26,255,421

G

BCL2 associated transcription factor 1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,183...27,902,974

G

coiled-coil domain containing 28A

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,646,997...25,663,277
Ensembl chr 1:25,647,000...25,663,273

G

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279

G

epithelial cell transforming 2 like

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,566,955...25,644,289
Ensembl chr 1:25,566,954...25,644,277

G

gap junction protein epsilon 1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:22,933,885...22,936,167
Ensembl chr 1:22,933,885...22,935,121

G

HBS1 like translational GTPase

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:28,968,778...29,052,427
Ensembl chr 1:29,018,351...29,052,423

G

heme binding protein 2

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:26,001,650...26,011,381

G

hdc homolog, cell cycle regulator

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,316,448...25,364,083
Ensembl chr 1:25,316,456...25,364,297

G

interferon gamma receptor 1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093

G

interleukin 20 receptor subunit alpha

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720

G

interleukin 22 receptor subunit alpha 2

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,073,481...27,090,635
Ensembl chr 1:27,073,610...27,091,236

G

mitogen-activated protein kinase kinase kinase 5

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493

G

microtubule associated protein 7

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,606,021...27,782,754
Ensembl chr 1:27,606,036...27,782,747

G

mitochondrial fission regulator 2

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,906,162...27,998,861
Ensembl chr 1:27,908,824...28,015,101

G

MYB proto-oncogene, transcription factor

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

NHS like 1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,663,554...25,988,106
Ensembl chr 1:25,852,032...25,987,833

G

neuromedin B receptor

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:22,972,049...22,989,188
Ensembl chr 1:22,972,885...22,988,179

G

oligodendrocyte transcription factor 3

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:26,800,671...26,801,489
Ensembl chr 1:26,800,671...26,801,489

G

phosphodiesterase 7B

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,958,261...28,425,754
Ensembl chr 1:27,958,270...28,302,666

G

p53 apoptosis effector related to PMP22

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:26,301,254...26,317,046
Ensembl chr 1:26,301,252...26,317,868

G

peroxisomal biogenesis factor 7

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,257,872...27,346,529
Ensembl chr 1:27,257,011...27,346,515

G

RALBP1 associated Eps domain containing 1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,481,283...25,565,284
Ensembl chr 1:25,481,343...25,565,277

G

solute carrier family 35 member D3

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:27,246,742...27,250,476
Ensembl chr 1:27,246,752...27,250,254

G

TNF alpha induced protein 3

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532

NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822

G

taxilin beta

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:25,228,602...25,285,303
Ensembl chr 1:25,228,615...25,285,301

G

vesicle trafficking 1

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like

NCBI chr 1:22,862,628...22,923,861
Ensembl chr 1:22,859,390...22,923,838

familial Behcet-like autoinflammatory syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF alpha induced protein 3

ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 | ClinVar Annotator: match by term: TNFAIP3-related condition

PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532 PMID:29241730 More...

NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822

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 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101

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 chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

G

phospholipase C gamma 2

ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome

NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060

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

PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More...

NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

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 6:56,236,306...56,278,577
Ensembl chr 6:56,236,311...56,244,185

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

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More...

NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101

G

protein kinase C gamma

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

NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210

G

Rap guanine nucleotide exchange factor like 1

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

NCBI chr12:22,180,928...22,195,841
Ensembl chr12:22,181,849...22,195,840

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 chr 6:7,008,330...7,054,089
Ensembl chr 6:7,012,332...7,055,305

G

c-Maf inducing protein

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

NCBI chr 6:6,653,237...6,881,874
Ensembl chr 6:6,654,411...6,881,813

G

gigaxonin

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

NCBI chr 6:6,921,446...6,989,670
Ensembl chr 6:6,933,503...6,989,653

G

glycine cleavage system protein H

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

NCBI chr 6:7,171,186...7,184,732
Ensembl chr 6:7,171,192...7,184,729

G

polycystin 1 like 2

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

NCBI chr 6:7,065,143...7,166,620
Ensembl chr 6:7,066,912...7,166,458

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 chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060

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 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496

G

mediator of cell motility 1

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

NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,096...107,658,455

G

NLR family CARD domain containing 4

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

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

NCBI chr 3:107,358,117...107,389,557

G

solute carrier family 30 member 6

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

NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337

G

spastin

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

NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926

G

steroid 5 alpha-reductase 2

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

NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350

G

xanthine dehydrogenase

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

NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169

familial Mediterranean fever

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B (MDR/TAP), member 1

treatment
susceptibility
no_association

DNA:SNP: :3435C>T(human)
DNA:SNP,haplotype:exon:3435C>T(human)

PMID:17610314 PMID:23408444 PMID:24773260

RGD:39456094 RGD:39456095 RGD:39456097

NCBI chr 9:93,049,955...93,146,469

G

angiotensin I converting enzyme

susceptibility

DNA:insertion/deletion:intron 16:

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646

G

catalase

disease_progression

NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452

G

coagulation factor II, thrombin

protein:increased expression:blood plasma (human)

NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137

G

insulin like growth factor 1

disease_progression

NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033

G

interleukin 18

protein:increased expression:serum

NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219

G

interleukin 6

protein:increased expression:serum

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

interleukin-1 beta-like

protein:increased expression:serum

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease
ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar Annotator: match by term: Periodic disease

PMID:2703059 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 More...

NCBI chr 3:38,934,573...38,948,609

G

methylenetetrahydrofolate reductase

susceptibility

DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human)

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

NLR family pyrin domain containing 12

ClinVar Annotator: match by term: Periodic fever syndrome

PMID:25741868 PMID:28492532

NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101

G

nucleotide binding oligomerization domain containing 2

severity

DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)

NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534

G

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ClinVar Annotator: match by term: Periodic disease

PMID:15805161 PMID:16876319 PMID:21228398 PMID:25326637 PMID:26673778 More...

NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149

G

proopiomelanocortin

protein: decreassed expression: plasma: ACTH

NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Familial Periodic Fever

NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612

G

serpin family E member 1

susceptibility

DNA:polymorphism:promoter:rs1799768 (human)

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

G

hyaluronan synthase 2

Periodic Fever Syndrome

PMID:1606750 PMID:8270767 PMID:20080661 PMID:20178474 PMID:21437276 More...

NCBI chr 4:17,583,154...17,613,524
Ensembl chr 4:17,596,492...17,615,480

G

thrombomodulin

protein:increased expression:blood

NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099

G

toll like receptor 4

susceptibility

DNA:polymorphism:exon:p.D299G(human)

NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Familial Periodic Fever

NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909

Familial Mediterranean Fever, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: FMF, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant

PMID:2703059 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 More...

NCBI chr 3:38,934,573...38,948,609

Fever of Unknown Origin

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-reactive protein, pentraxin-related

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

Hereditary Autoinflammatory Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NLR family CARD domain containing 4

CTD Direct Evidence: marker/mechanism

PMID:25217959 PMID:25217960

NCBI chr 3:107,358,117...107,389,557

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822

IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phospholipase C gamma 1

ClinVar Annotator: match by term: Immune dysregulation, autoimmunity, and autoinflammation

PMID:25741868 PMID:37422272

NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554

G

syntaxin binding protein 3

ClinVar Annotator: match by term: Immune dysregulation, autoimmunity, and autoinflammation

NCBI chr 4:111,234,154...111,294,067
Ensembl chr 4:111,233,991...111,293,964

IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCAAT enhancer binding protein epsilon

ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain

PMID:4831644 PMID:25741868 PMID:26104880 PMID:28492532 PMID:31201888

NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,769

Immunodeficiency 113

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex subunit 5

ClinVar Annotator: match by term: Immunodeficiency 133 with autoimmunity and autoinflammation

NCBI chr 9:124,839,062...124,847,906
Ensembl chr 9:124,837,765...124,848,105

Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies

PMID:19020503 PMID:25741868 PMID:33517393

NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220

Immunodeficiency 97 with Autoinflammation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation

PMID:25741868 PMID:31554793 PMID:33054089

NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099

Immunodeficiency 98 with Autoinflammation, X-Linked

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas ligand

ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

G

toll like receptor 8

ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked | ClinVar Annotator: match by term: TLR8-related condition

PMID:25741868 PMID:28492532 PMID:33512449 PMID:34981838

NCBI chr X:9,551,284...9,616,762
Ensembl chr X:9,597,604...9,616,757

mevalonic aciduria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-reactive protein, pentraxin-related

disease_progression

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

G

3-hydroxy-3-methylglutaryl-CoA reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957

G

metabolism of cobalamin associated B

ClinVar Annotator: match by term: Mevalonic aciduria

PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205

G

mevalonate kinase

ClinVar Annotator: match by term: Mevalonate kinase deficiency | ClinVar Annotator: match by term: Mevalonic aciduria

PMID:1377680 PMID:3158961 PMID:8386351 PMID:9334262 PMID:9536098 More...

NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368

G

tumor necrosis factor

protein:increased expression:plasma

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

ubiquitin protein ligase E3B

ClinVar Annotator: match by term: Mevalonic aciduria

NCBI chr14:41,383,238...41,442,752
Ensembl chr14:41,383,239...41,442,476

Muckle-Wells syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 receptor antagonist

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 chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228

otulipenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OTU deubiquitinase with linear linkage specificity

ClinVar Annotator: match by term: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Infantile-onset periodic fever-panniculitis-dermatosis syndrome

PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More...

NCBI chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198

Periodic Fever, Menstrual Cycle-Dependent

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5-hydroxytryptamine receptor 1A

ClinVar Annotator: match by term: HTR1A-related condition | ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever

PMID:21990073 PMID:25741868 PMID:28492532

NCBI chr16:42,479,812...42,484,365
Ensembl chr16:42,478,923...42,484,304

PFAPA syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleotide binding oligomerization domain containing 2

DNA:mutations:cds

NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534

proteasome-associated autoinflammatory syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 16A, phospholipase

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,800,932...23,814,920
Ensembl chr 7:23,800,932...23,814,947

G

advanced glycosylation end-product specific receptor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162

G

1-acylglycerol-3-phosphate O-acyltransferase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,205,930...24,208,430
Ensembl chr 7:24,204,905...24,215,108

G

allograft inflammatory factor 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,728,726...23,731,675

G

ankyrin repeat and sterile alpha motif domain containing 1A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,812,925...30,995,369
Ensembl chr 7:30,812,920...30,995,360

G

apolipoprotein M

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,768,974...23,773,324
Ensembl chr 7:23,768,984...23,773,324

G

armadillo repeat containing 12

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,583,544...31,601,790
Ensembl chr 7:31,586,797...31,603,600

G

activating transcription factor 6 beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,153,551...24,171,743
Ensembl chr 7:24,153,574...24,171,718

G

ATPase H+ transporting V1 subunit G2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,670,970...23,673,860
Ensembl chr 7:23,670,972...23,673,837

G

beta-1,3-galactosyltransferase 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,643,049...29,644,847
Ensembl chr 7:29,643,182...29,648,604

G

BAG cochaperone 6

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,756,897...23,768,659
Ensembl chr 7:23,756,897...23,768,666

G

BCL2 antagonist/killer 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,808,849...29,815,345
Ensembl chr 7:29,808,849...29,815,318

G

bridge-like lipid transfer protein family member 3A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,731,466...30,799,958
Ensembl chr 7:30,731,461...30,802,735

G

BCL2 interacting protein 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,034,424...32,054,644
Ensembl chr 7:32,035,342...32,054,632

G

bromodomain containing 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,564...25,162,584

G

bromodomain and PHD finger containing 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,926,313...31,966,006
Ensembl chr 7:31,926,308...31,966,001

G

butyrophilin like 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,789,888...24,810,132

G

complement C2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:24,020,290...24,034,039

G

complement C4A (Rodgers blood group)

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,013...24,083,065

G

chromosome 7 C6orf15 homolog

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,515,637...23,516,912
Ensembl chr 7:23,515,589...23,516,912

G

chromosome 7 C6orf47 homolog

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,773,897...23,775,346
Ensembl chr 7:23,773,451...23,775,938

G

chromosome 7 C6orf89 homolog

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,544,569...32,584,320
Ensembl chr 7:32,544,346...32,584,310

G

coiled-coil alpha-helical rod protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,543,919...23,558,150
Ensembl chr 7:23,543,752...23,558,052

G

cyclin dependent kinase inhibitor 1A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

corneodesmosin

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,520,142...23,524,372
Ensembl chr 7:23,520,142...23,524,372

G

complement factor B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179

G

chloride intracellular channel 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,842,829...23,851,162

G

colipase

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,618,920...31,621,132
Ensembl chr 7:31,618,920...31,621,132

G

colipase like 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,612,223...31,617,407

G

colipase like 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,605,362...31,607,931
Ensembl chr 7:31,605,336...31,608,102

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888

G

copine 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,396,735...32,510,242
Ensembl chr 7:32,409,688...32,508,380

G

casein kinase 2 beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,210...23,792,502
Ensembl chr 7:23,780,210...23,792,502

G

cutA divalent cation tolerance homolog

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,720,094...29,721,713
Ensembl chr 7:29,720,094...29,721,769

G

cytochrome P450 family 21 subfamily A member 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370

G

death domain associated protein

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110

G

DDAH family member 2, ADMA-independent

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,838,993...23,842,514
Ensembl chr 7:23,838,993...23,842,516

G

discoidin domain receptor tyrosine kinase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,777...23,391,585

G

DExD-box helicase 39B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,658,089...23,669,095
Ensembl chr 7:23,658,086...23,669,046

G

DEF6 guanine nucleotide exchange factor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,191,788...31,216,436
Ensembl chr 7:31,193,858...31,216,414

G

decapping exoribonuclease

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,057,670...24,060,108
Ensembl chr 7:24,056,525...24,060,011

G

EGF like domain multiple 8

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,201,129...24,205,133
Ensembl chr 7:24,201,632...24,204,972

G

euchromatic histone lysine methyltransferase 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,992,697

G

ETS variant transcription factor 7

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,087,422...32,109,966
Ensembl chr 7:32,087,430...32,108,187

G

FKBP prolyl isomerase 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,441,764...31,550,704
Ensembl chr 7:31,440,842...31,567,487

G

FKBP prolyl isomerase like

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,172,227...24,174,553
Ensembl chr 7:24,172,238...24,173,853

G

flotillin 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,253,157...23,265,165
Ensembl chr 7:23,252,326...23,265,145

G

G-patch domain and ankyrin repeats 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,777,104...23,780,835
Ensembl chr 7:23,777,118...23,780,851

G

G protein signaling modulator 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,227,572...24,229,785
Ensembl chr 7:24,227,575...24,229,797

G

glutamate metabotropic receptor 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,179,723...30,278,579
Ensembl chr 7:30,179,002...30,279,119

G

general transcription factor IIH subunit 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,398,414...23,404,268
Ensembl chr 7:23,398,449...23,404,260

G

high mobility group AT-hook 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,320,090...30,329,413
Ensembl chr 7:30,320,410...30,329,408

G

hydroxysteroid 17-beta dehydrogenase 8

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,247,577...25,249,786
Ensembl chr 7:25,247,608...25,249,785

G

heat shock protein family A (Hsp70) member 1 like

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,910,079...23,914,517

G

immediate early response 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,265,560...23,266,905
Ensembl chr 7:23,265,556...23,266,827

G

inflammation and lipid regulator with UBA-like and NBR1-like domains

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,561,744...30,667,115
Ensembl chr 7:30,562,987...30,667,146

G

inositol hexakisphosphate kinase 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,938,779...29,961,520
Ensembl chr 7:29,931,925...29,961,466

G

inositol 1,4,5-trisphosphate receptor type 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,835,922...29,901,305
Ensembl chr 7:29,835,922...29,901,309

G

potassium channel tetramerization domain containing 20

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,146,044...32,195,075
Ensembl chr 7:32,146,106...32,195,072

G

kinesin family member C1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,692,775...29,713,716
Ensembl chr 7:29,694,778...29,713,712

G

LEM domain nuclear envelope protein 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,980,394...29,997,077
Ensembl chr 7:29,980,401...29,997,115

G

LHFPL tetraspan subfamily member 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268

G

MHC class I polypeptide-related sequence B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,596,900...23,610,431

G

uncharacterized LOC100156657

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,329,547...30,332,166
Ensembl chr 7:30,329,550...30,332,126

G

LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,900,385...23,908,523
Ensembl chr 7:23,900,388...23,908,526

G

leukocyte specific transcript 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,705,491...23,712,987

G

lymphotoxin alpha

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299

G

lymphotoxin beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,704,842...23,707,036
Ensembl chr 7:23,704,841...23,706,745

G

lymphocyte antigen 6 family member G5C

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,791,160...23,795,967
Ensembl chr 7:23,791,241...23,795,734

G

lymphocyte antigen 6 family member G6C

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,829,790...23,833,610
Ensembl chr 7:23,829,791...23,833,196

G

lymphocyte antigen 6 family member G6F

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,815,682...23,823,306
Ensembl chr 7:23,817,640...23,822,382

G

mitogen-activated protein kinase 13

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,880,643...31,889,586
Ensembl chr 7:31,880,638...31,889,455

G

mitogen-activated protein kinase 14

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031

G

mitochondrial coiled-coil domain 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,656,623...23,658,099
Ensembl chr 7:23,656,618...23,658,099

G

motilin

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,003,501...30,013,064
Ensembl chr 7:30,003,526...30,013,064

G

megakaryocyte and platelet inhibitory receptor G6b

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,834,650...23,836,784
Ensembl chr 7:23,834,930...23,838,593

G

mutS homolog 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,852,864...23,872,760
Ensembl chr 7:23,852,918...23,872,760

G

mitochondrial carrier 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,617,426...32,635,575
Ensembl chr 7:32,617,426...32,635,575

G

mucin 21, cell surface associated

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,452,510...23,456,682

G

mucin like 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,429,415...23,440,523

G

natural cytotoxicity triggering receptor 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,713,333...23,716,988

G

negative elongation factor complex member E

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,040,525...24,046,932
Ensembl chr 7:24,040,525...24,047,025

G

neuraminidase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,953,499...23,958,638

G

NFKB inhibitor like 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,673,002...23,685,089
Ensembl chr 7:23,673,297...23,685,088

G

notch receptor 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281

G

nudix hydrolase 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,343,253...30,422,019
Ensembl chr 7:30,343,256...30,422,080

G

protein kinase C and casein kinase substrate in neurons 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,459,851...30,512,736
Ensembl chr 7:30,492,589...30,512,739

G

PBX homeobox 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,221,565...24,226,940
Ensembl chr 7:24,221,565...24,226,940

G

prefoldin subunit 6

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,653,569...29,654,957
Ensembl chr 7:29,653,679...29,654,945

G

PHD finger protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,714,295...29,719,996
Ensembl chr 7:29,714,293...29,719,987

G

peptidase inhibitor 16

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,600,952...32,613,505
Ensembl chr 7:32,600,770...32,614,924

G

patatin like phospholipase domain containing 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,197...32,025,245

G

POU class 5 homeobox 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,564,654...23,570,691

G

peroxisome proliferator activated receptor delta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,585...31,295,211

G

peptidylprolyl isomerase like 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,522,736...32,547,874
Ensembl chr 7:32,522,733...32,547,839

G

palmitoyl-protein thioesterase 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,188,335...24,200,707
Ensembl chr 7:24,188,352...24,200,707

G

proline rich coiled-coil 2A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,742,302...23,755,950
Ensembl chr 7:23,740,255...23,756,080

G

proline rich transmembrane protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,183,557...24,186,892
Ensembl chr 7:24,180,637...24,186,908

G

proteasome 20S subunit alpha 3

ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC

PMID:21953331 PMID:26524591

NCBI chr 1:187,342,231...187,371,149
Ensembl chr 1:187,343,507...187,372,193

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921

G

proteasome 20S subunit beta 8

ClinVar Annotator: match by term: PSMB8-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More...

NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,461...25,062,245

G

proteasome 20S subunit beta 9

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,072,323...25,078,322

G

psoriasis susceptibility 1 candidate 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,540,341...23,543,136
Ensembl chr 7:23,540,344...23,542,930

G

peroxisomal testis enriched protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,110,388...32,125,833
Ensembl chr 7:32,109,962...32,125,098

G

RAB44, member RAS oncogene family

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,372,606...32,402,282
Ensembl chr 7:32,372,600...32,402,736

G

ral guanine nucleotide dissociation stimulator like 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,655,530...29,662,375
Ensembl chr 7:29,655,743...29,662,375

G

ring finger protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,251,507...25,255,526
Ensembl chr 7:25,251,486...25,255,522

G

ring finger protein 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,215,493...24,217,983
Ensembl chr 7:24,215,704...24,217,971

G

ribosomal protein L10a

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,327,763...31,330,624
Ensembl chr 7:31,327,440...31,333,638

G

ribosomal protein S10

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,435,146...30,442,791
Ensembl chr 7:30,435,150...30,442,886

G

ribosomal protein S18

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,638,856...29,642,912
Ensembl chr 7:29,638,833...29,642,912

G

retinoid X receptor beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,236,005...25,242,842
Ensembl chr 7:25,236,004...25,242,875

G

signal peptide, CUB domain and EGF like domain containing 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,113,596...31,153,095
Ensembl chr 7:31,114,082...31,150,000

G

surfactant associated 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,420,430...23,421,469
Ensembl chr 7:23,420,433...23,421,417

G

SKI2 subunit of superkiller complex

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,016...24,057,621

G

MHC class I antigen 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:22,938,211...22,942,735

G

SLA-DM alpha chain

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,497...25,137,966

G

MHC class II, DM beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,119,282...25,128,236

G

major histocompatibility complex, class II, DO alpha

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,178,866...25,182,665
Ensembl chr 7:25,178,881...25,182,707

G

MHC class II, DO beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,030,435...25,038,196
Ensembl chr 7:25,030,438...25,037,962

G

MHC class II histocompatibility antigen SLA-DQA

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,953,472...24,959,313

G

SLA-DQ beta1 domain

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,969,034...24,977,238
Ensembl chr 7:24,967,113...24,977,240

G

MHC class II DR-alpha

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,052...24,835,158

G

MHC class II histocompatibility antigen SLA-DRB1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,901,386...24,914,016
Ensembl chr 7:24,881,775...24,914,053

G

solute carrier family 26 member 8

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,722,409...31,791,620
Ensembl chr 7:31,722,103...31,791,802

G

solute carrier family 39 member 7

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,242,862...25,247,407
Ensembl chr 7:25,242,604...25,247,408

G

solute carrier family 44 member 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,958,935...23,977,466
Ensembl chr 7:23,958,942...23,977,482

G

small nuclear ribonucleoprotein polypeptide C

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,708,243...30,723,480
Ensembl chr 7:30,708,332...30,724,045

G

SAM pointed domain containing ETS transcription factor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,515,925...30,538,095
Ensembl chr 7:30,515,925...30,524,470

G

SRSF protein kinase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,645,753...31,701,305
Ensembl chr 7:31,645,755...31,701,087

G

serine and arginine rich splicing factor 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,289,464...32,298,652
Ensembl chr 7:32,289,480...32,298,580

G

serine/threonine kinase 19

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,060,226...24,067,398
Ensembl chr 7:24,059,452...24,067,384

G

serine/threonine kinase 38

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:32,206,532...32,253,673
Ensembl chr 7:32,206,541...32,253,624

G

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,723,745...29,752,351
Ensembl chr 7:29,723,588...29,753,933

G

TATA-box binding protein associated factor 11

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:30,799,992...30,811,771
Ensembl chr 7:30,799,965...30,811,768

G

transporter 1, ATP binding cassette subfamily B member

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843

G

transporter 2, ATP binding cassette subfamily B member

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922

G

TAP binding protein

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,663,491...29,673,453
Ensembl chr 7:29,663,495...29,673,634

G

transcription factor 19

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,558,326...23,562,074
Ensembl chr 7:23,558,353...23,562,072

G

t-complex 11

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,007,460...31,161,082
Ensembl chr 7:31,007,474...31,114,734

G

TEA domain transcription factor 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,337,890...31,351,452
Ensembl chr 7:31,336,560...31,361,835

G

tumor necrosis factor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

tenascin XB

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,881...24,150,596

G

testis expressed basic protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:24,406,241...24,409,937

G

TUB like protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,362,670...31,379,948
Ensembl chr 7:31,361,873...31,379,204

G

ubiquinol-cytochrome c reductase complex assembly factor 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,902,089...29,929,802
Ensembl chr 7:29,899,043...29,929,795

G

valyl-tRNA synthetase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,886,132...23,899,265
Ensembl chr 7:23,886,130...23,899,738

G

valyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,404,400...23,416,442
Ensembl chr 7:23,404,429...23,416,442

G

VPS52 subunit of GARP complex

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,624,224...29,639,168
Ensembl chr 7:29,624,230...29,639,140

G

von Willebrand factor A domain containing 7

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,874,900...23,885,551
Ensembl chr 7:23,874,899...23,885,994

G

WD repeat domain 46

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,645,128...29,653,567
Ensembl chr 7:29,645,130...29,653,579

G

zinc finger and BTB domain containing 12

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:23,993,849...23,999,134
Ensembl chr 7:23,994,530...23,996,980

G

zinc finger and BTB domain containing 22

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,673,006...29,676,614
Ensembl chr 7:29,673,027...29,675,593

G

zinc finger and BTB domain containing 9

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:29,754,729...29,757,568
Ensembl chr 7:29,754,725...29,757,565

G

zinc finger protein 76

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 7:31,161,130...31,192,321
Ensembl chr 7:31,161,320...31,192,575

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome 20S subunit beta 9

ClinVar Annotator: match by term: PSMB9-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 6

PMID:25741868 PMID:33727065 PMID:34819510

NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,072,323...25,078,322

proteosome-associated autoinflammatory syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome 20S subunit beta 8

ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome

PMID:7517574 PMID:11529920 PMID:12067308 PMID:16199547 PMID:20159315 More...

NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,461...25,062,245

G

transporter 2, ATP binding cassette subfamily B member

ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome

PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:28492532

NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922

proteosome-associated autoinflammatory syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome maturation protein

ClinVar Annotator: match by term: POMP-related condition

PMID:25741868 PMID:28492532

NCBI chr11:5,953,691...5,968,447
Ensembl chr11:5,953,743...5,974,060

proteosome-associated autoinflammatory syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: PSMB4-related condition

PMID:25741868 PMID:26524591 PMID:28492532

NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921

proteosome-associated autoinflammatory syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome assembly chaperone 2

ClinVar Annotator: match by term: PSMG2-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More...

NCBI chr 6:96,879,009...96,893,551
Ensembl chr 6:96,878,139...96,893,474

proteosome-associated autoinflammatory syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome 20S subunit beta 10

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5

PMID:25741868 PMID:31783057 PMID:37600812

NCBI chr 6:28,544,910...28,547,609
Ensembl chr 6:28,543,972...28,548,152

sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr13:59,647,835...59,736,054
Ensembl chr13:59,710,995...59,735,400

STING-associated vasculopathy with onset in infancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain containing 8

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,182,195...140,202,247
Ensembl chr 2:140,168,636...140,202,247

G

cell division cycle 23

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,211,334...140,245,728
Ensembl chr 2:140,211,331...140,230,789

G

cell division cycle 25C

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,289,156...140,323,696
Ensembl chr 2:140,289,115...140,324,425

G

catenin alpha 1

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334

G

DnaJ heat shock protein family (Hsp40) member C18

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,297,914...141,337,438
Ensembl chr 2:141,295,610...141,337,407

G

endothelial cell surface expressed chemotaxis and apoptosis regulator

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,343,818...141,352,618
Ensembl chr 2:141,343,803...141,352,603

G

early growth response 1

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296

G

eukaryotic translation termination factor 1

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,471,931...140,504,381
Ensembl chr 2:140,469,306...140,504,287

G

family with sequence similarity 13 member B

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:139,958,488...140,073,709
Ensembl chr 2:139,958,490...140,073,663

G

GDNF family receptor alpha 3

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,263,297...140,283,227
Ensembl chr 2:140,263,301...140,283,066

G

heterogeneous nuclear ribonucleoprotein A0

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:139,779,865...139,783,016
Ensembl chr 2:139,779,867...139,783,159

G

heat shock protein family A (Hsp70) member 9

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,253...140,531,857

G

lysine demethylase 3B

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,346,145...140,418,556
Ensembl chr 2:140,346,223...140,418,527

G

kinesin family member 20A

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,202,316...140,213,144
Ensembl chr 2:140,202,015...140,211,155

G

kelch like family member 3

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:139,632,868...139,890,079
Ensembl chr 2:139,632,869...139,920,497

G

leucine rich repeat transmembrane neuronal 2

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,803,624...140,810,013
Ensembl chr 2:140,803,626...140,809,493

G

matrin 3

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015

G

myotilin

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089

G

marginal zone B and B1 cell specific protein

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,277,541...141,279,652
Ensembl chr 2:141,277,544...141,279,641

G

NME/NM23 family member 5

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,132,871...140,168,655
Ensembl chr 2:140,131,991...140,167,934

G

poly(A) binding protein interacting protein 2

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,237,417...141,260,207
Ensembl chr 2:141,237,438...141,261,125

G

polycystin 2 like 2, transient receptor potential cation channel

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:139,920,552...139,956,509
Ensembl chr 2:139,920,583...139,956,432

G

proline rich basic protein 1

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,280,252...141,286,618
Ensembl chr 2:141,282,086...141,285,145

G

receptor accessory protein 2

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,420,422...140,427,160
Ensembl chr 2:140,420,516...140,427,160

G

SIL1 nucleotide exchange factor

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,884,170...141,118,201
Ensembl chr 2:140,878,070...141,118,059

G

solute carrier family 23 member 1

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,258,318...141,277,555
Ensembl chr 2:141,258,323...141,276,442

G

spermatogenesis associated 24

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:141,286,870...141,293,232
Ensembl chr 2:141,286,880...141,293,227

G

stimulator of interferon response cGAMP interactor 1

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25029335 More...

NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198

G

Wnt family member 8A

ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy

NCBI chr 2:140,103,322...140,113,682
Ensembl chr 2:140,103,830...140,109,862

Systemic Autoinflammatory Disease with Vasculitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LYN proto-oncogene, Src family tyrosine kinase

ClinVar Annotator: match by term: Autoinflammatory disease, systemic, with vasculitis | ClinVar Annotator: match by term: LAVLI SYNDROME | ClinVar Annotator: match by term: LYN-related condition

PMID:25741868 PMID:28492532 PMID:36122175 PMID:36932076

NCBI chr 4:75,793,273...75,903,710
Ensembl chr 4:75,793,492...75,903,496

Systemic Autoinflammatory Disease, X-Linked

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED

PMID:25741868 PMID:31874111 PMID:35289316

NCBI chr X:125,035,575...125,056,445
Ensembl chr X:125,036,508...125,056,453

TNF receptor-associated periodic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)

NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612

G

TNF receptor superfamily member 1A

susceptibility

ClinVar Annotator: match by term: Autosomal Dominant Familial Periodic Fever | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) | ClinVar Annotator: match by term: TNF receptor-associated periodic syndrome

PMID:1144354 PMID:1402641 PMID:7156325 PMID:9529351 PMID:9536098 More...

NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909

YAO SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Susceptibility to Yao syndrome | ClinVar Annotator: match by term: Yao syndrome

PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 More...

NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534

Term paths to the root

Path 1
Term	Annotations
disease	15425
Pathological Conditions, Signs and Symptoms	12088
Signs and Symptoms	10142
Body Temperature Changes	463
Fever	421
AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION	1
Autoinflammation with Episodic Fever and Lymphadenopathy	1
Fever of Unknown Origin +	1
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION	1
PFAPA syndrome	1
Periodic Fever, Menstrual Cycle-Dependent	1
autoinflammatory disease +	385
cold-induced sweating syndrome +	3
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	1

paths to the root