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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Body Temperature Changes
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Accession:DOID:9008809 term browser browse the term
Definition:Significant alterations in temperature of the human body, above or below 98.6 degrees F. or 37 degrees C. when taken orally.
Synonyms:exact_synonym: Body Temperature Change
 primary_id: MESH:D001832


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AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Autoinflammation with episodic fever and immune dysregulation ClinVar
OMIM		 PMID:38609546 NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
Autoinflammation with Episodic Fever and Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 More... NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824 		JBrowse link
Autoinflammatory Disease, Familial, Behcet-Like-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More... NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic ClinVar PMID:25741868 PMID:28492532 PMID:28600438 PMID:36926348 NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
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 Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 OMIM
ClinVar		 PMID:25741868 PMID:27932483 PMID:34326534 PMID:35266071 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 More... NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997 		JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar		 PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605 		JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: CHRNG-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Familial Behcet-Like Autoinflammatory Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abracl ABRA C-terminal like ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,654,951...12,665,143
Ensembl chr 1:12,654,838...12,665,207 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family, member A1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:16,183,940...16,203,385
Ensembl chr 1:16,183,940...16,203,385 		JBrowse link
G Arfgef3 ARFGEF family member 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:13,245,578...13,404,319
Ensembl chr 1:13,244,830...13,404,084 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832 		JBrowse link
G Ccdc28a coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,857,668...12,872,944
Ensembl chr 1:12,857,666...12,873,003 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G Ect2l epithelial cell transforming 2 like ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,775,705...12,857,538
Ensembl chr 1:12,778,922...12,855,449 		JBrowse link
G Gje1 gap junction protein, epsilon 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:9,085,789...9,088,204
Ensembl chr 1:9,086,348...9,088,138 		JBrowse link
G Hbs1l HBS1-like translational GTPase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:16,092,529...16,170,082
Ensembl chr 1:16,092,547...16,170,074 		JBrowse link
G Hebp2 heme binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:13,194,982...13,201,777
Ensembl chr 1:13,194,982...13,201,777 		JBrowse link
G Heca hdc homolog, cell cycle regulator ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,525,445...12,575,358
Ensembl chr 1:12,525,135...12,576,427 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602 		JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,910,433...15,037,574
Ensembl chr 1:14,910,551...15,037,574 		JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,123,232...15,138,632
Ensembl chr 1:15,070,894...15,148,832 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Nhsl1 NHS-like 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,956,525...13,188,580
Ensembl chr 1:12,956,021...13,187,547 		JBrowse link
G Nmbr neuromedin B receptor ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:9,115,033...9,146,081
Ensembl chr 1:9,134,889...9,145,462 		JBrowse link
G Olig3 oligodendrocyte transcription factor 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,081,259...14,083,336
Ensembl chr 1:14,081,328...14,082,149 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,174,001...15,493,267
Ensembl chr 1:15,182,704...15,492,900 		JBrowse link
G Perp p53 apoptosis effector related to PMP22 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:13,542,067...13,554,514
Ensembl chr 1:13,542,067...13,554,511 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561 		JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,565,482...14,573,581
Ensembl chr 1:14,569,687...14,573,159 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Txlnb taxilin beta ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,404,845...12,449,977
Ensembl chr 1:12,404,859...12,449,975 		JBrowse link
G Vta1 vesicle trafficking 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:9,032,861...9,080,635
Ensembl chr 1:9,032,335...9,080,635 		JBrowse link
familial Behcet-like autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 | ClinVar Annotator: match by term: TNFAIP3-related condition OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532 PMID:29241730 More... NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
familial cold autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO
ISS		 ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1
OMIM:120100		 OMIM
ClinVar
MouseDO		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myadm myeloid-associated differentiation marker ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Rapgefl1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371 		JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 More... NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO
ISS		 ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
OMIM:616115		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP RGD PMID:2460123 RGD:10046042 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G Cbr1 carbonyl reductase 1 IEP mRNA:decreased expression:liver, lung RGD PMID:12399253 RGD:2316279 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393 		JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:27565679 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IDA RGD PMID:15066130 RGD:2307192 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:meninges (rat) RGD PMID:19582783 RGD:2314489 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IMP
ISO		 RGD PMID:15066130 PMID:23999490 RGD:2307192, RGD:8552232 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19681872 RGD:2314645 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11852909 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9740541 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Drd1 dopamine receptor D1 IEP mRNA:increased expression:brain meninges, brain vasculature (rat) RGD PMID:19582783 RGD:2314489 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Epha3 Eph receptor A3 IEP mRNA, protein:decreased expression:lung, liver RGD PMID:15671251 RGD:1581943 NCBI chr11:1,138,485...1,474,102
Ensembl chr11:1,140,985...1,473,900 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:31422080 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human) RGD PMID:24934404 RGD:10449114 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19265175 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase IEP mRNA:decreased expression:liver, lung RGD PMID:12399253 RGD:2316279 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
G Hsf1 heat shock transcription factor 1 IEP associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat) RGD PMID:22427437 RGD:10402781 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21990073 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19879056 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:3091246 PMID:18282668 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta IEP
ISO		 protein:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:9952427 PMID:11852909 PMID:15384034 PMID:22143887 PMID:25164664 More... RGD:1626671 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist IDA
ISO		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16096327 PMID:16455768 RGD:1626671 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8635092 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 IEP
ISO		 protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7537110 PMID:11852909 PMID:15384034 PMID:22042912 RGD:7241096 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25429137 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Episodic fever ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Fever ClinVar NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9495865 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Pla2g4a phospholipase A2 group 4A IEP protein:increased phosphorylation:lung RGD PMID:16933973 RGD:1642453 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Episodic fever ClinVar NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:31422080 PMID:32437895 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO RGD PMID:9751056 RGD:737727 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434 		JBrowse link
G Ptges prostaglandin E synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25164664 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25164664 PMID:21741371 RGD:5508203 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): RGD PMID:23052617 RGD:13207414 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11165872 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Star steroidogenic acute regulatory protein IEP protein:decreased expression:testis (rat) RGD PMID:20389168 RGD:4845252 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25429137 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:22042912 RGD:7241096 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28726298 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10379864 PMID:11852909 PMID:15384034 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10902757 PMID:11175303 PMID:10902757 RGD:1624177, RGD:1624177 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tph2 tryptophan hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20722968 NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Episodic fever ClinVar PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Vim vimentin IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
Fever of Unknown Origin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein ISO RGD PMID:7506886 RGD:9491382 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
Hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34082047 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
Hypothermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss1 acyl-CoA synthetase short-chain family member 1 ISO RGD PMID:19187775 RGD:13831305 NCBI chr 3:139,450,383...139,500,325
Ensembl chr 3:139,450,383...139,500,325 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:increased expression:prostate gland ventral lobe (rat) RGD PMID:25996932 RGD:10402397 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Btk Bruton tyrosine kinase exacerbates ISO Associated with Endotoxemia; with Itk knockout RGD PMID:26581914 RGD:11533169 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 IEP RGD PMID:16469832 RGD:2311385 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14982698 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Cirbp cold inducible RNA binding protein severity IMP RGD PMID:31271215 RGD:329961299 NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9888857 PMID:27149200 PMID:27535976 PMID:31877572 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IEP RGD PMID:16469832 RGD:2311385 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Fas Fas cell surface death receptor IEP associated with Ischemic Attack, Transient; protein:decreased expression:brain (rat) RGD PMID:18410517 RGD:2311437 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand IEP associated with Brain Ischemia RGD PMID:18410517 RGD:2311437 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:10464538 NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26799708 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
G Hsf1 heat shock transcription factor 1 IEP mRNA:increased expression:prostate gland ventral lobe (rat) RGD PMID:25996932 RGD:10402397 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		JBrowse link
G Mdm2 MDM2 proto-oncogene IEP associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) RGD PMID:15777295 RGD:2317393 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:30366073 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24675228 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Oprd1 opioid receptor, delta 1 IEP mRNA:increased expression:hypothalamus RGD PMID:21377399 RGD:401901086 NCBI chr 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960 		JBrowse link
G Pf4 platelet factor 4 ISO protein:increased expression:plasma RGD PMID:31237986 RGD:401794437 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Ppbp pro-platelet basic protein ISO protein:increased expression:plasma RGD PMID:31237986 RGD:401794437 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130 		JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:30366073 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Selp selectin P ISO protein:increased expression: red pulp of spleen RGD PMID:31237986 RGD:401794437 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11731100 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 PMID:34942311 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
G Ttr transthyretin IEP mRNA:decreased expression:frontal cortex RGD PMID:21377399 RGD:401901086 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G Vwf von Willebrand factor ISO mRNA,protein:increased expression:spleen RGD PMID:31237986 RGD:401794437 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
G Zfp91 zinc finger protein 91 ISO CTD Direct Evidence: therapeutic CTD PMID:34942311 NCBI chr 1:209,891,344...209,928,890
Ensembl chr 1:209,891,344...209,927,762 		JBrowse link
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM
ClinVar		 PMID:4831644 PMID:25741868 PMID:28492532 PMID:31201888 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
King Denborough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome ClinVar
OMIM		 PMID:16940 PMID:18253 PMID:18564 PMID:1510267 PMID:1639409 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
Malignant Fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Pharmacogenic myopathy ClinVar PMID:20861472 PMID:24033266 PMID:24055113 PMID:24195946 PMID:24784157 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pharmacogenic myopathy
ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy		 ClinVar PMID:12434 PMID:16940 PMID:18253 PMID:18564 PMID:1256913 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
malignant hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia ClinVar NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO DNA,protein:missense mutation:cds:p.R1086H (human)
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5		 OMIM
ClinVar
CTD
RGD		 PMID:1982519 PMID:3037387 PMID:7650604 PMID:7847370 PMID:7897626 More... RGD:1300373 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 ISO RGD PMID:8395940 RGD:734675 NCBI chr10:92,652,924...92,665,612
Ensembl chr10:92,652,614...92,665,783 		JBrowse link
G Casq1 calsequestrin 1 ISO RGD PMID:19237502 RGD:329813080 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339 		JBrowse link
G Ryr1 ryanodine receptor 1 treatment ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:12434 PMID:16940 PMID:18253 PMID:18564 PMID:1256913 More... RGD:329812001, RGD:329812000, RGD:329811997 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia ClinVar PMID:25741868 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
Malignant Hypothermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Malignant hypothermia ClinVar PMID:14732627 PMID:16163667 PMID:16732084 PMID:16917943 PMID:18253926 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpg alkaline phosphatase, germ cell ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877 		JBrowse link
G Alpp alkaline phosphatase, placental ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589 		JBrowse link
Periodic Fever, Menstrual Cycle-Dependent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htr1a 5-hydroxytryptamine receptor 1A ISO ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever OMIM
ClinVar		 PMID:21990073 PMID:25741868 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
PFAPA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:mutations:cds RGD PMID:21914217 RGD:13204855 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
proteasome-associated autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Anks1a ankyrin repeat and sterile alpha motif domain containing 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,963,658...6,117,139
Ensembl chr20:5,963,678...6,117,148 		JBrowse link
G Apom apolipoprotein M ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550 		JBrowse link
G Armc12 armadillo repeat containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,587,859...6,598,355
Ensembl chr20:6,587,859...6,598,352 		JBrowse link
G Atf6b activating transcription factor 6 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,090,921...4,098,920
Ensembl chr20:4,090,921...4,098,894 		JBrowse link
G Atp6v1g2 ATPase H+ transporting V1 subunit G2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,587,681...3,591,309
Ensembl chr20:3,587,686...3,590,481 		JBrowse link
G B3galt4 Beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,936,089...4,937,664
Ensembl chr20:4,931,768...4,938,315 		JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Bltp3a bridge-like lipid transfer protein family member 3A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,910,261...5,954,641
Ensembl chr20:5,910,260...5,952,404 		JBrowse link
G Bnip5 BCL2 interacting protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,957,736...6,975,062
Ensembl chr20:6,956,201...6,975,091 		JBrowse link
G Brd2 bromodomain containing 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Brpf3 bromodomain and PHD finger containing, 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,864,684...6,902,760
Ensembl chr20:6,865,985...6,902,690 		JBrowse link
G Btnl2 butyrophilin-like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C20h6orf15 similar to human chromosome 6 open reading frame 15 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886 		JBrowse link
G C20h6orf89 similar to human chromosome 6 open reading frame 89 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,322,483...7,362,054
Ensembl chr20:7,322,442...7,357,612 		JBrowse link
G C4a complement C4A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080 		JBrowse link
G C4b complement C4B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681 		JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdsn corneodesmosin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712 		JBrowse link
G Clps colipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689 		JBrowse link
G Clpsl2 colipase-like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,608,128...6,610,951
Ensembl chr20:6,608,128...6,610,951 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Cpne5 copine 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,206,742...7,289,309
Ensembl chr20:7,206,742...7,288,883 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,022,956...5,024,552 		JBrowse link
G Daxx death-domain associated protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843 		JBrowse link
G Ddah2 DDAH family member 2, ADMA-independent ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996 		JBrowse link
G Def6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,268,579...6,290,030
Ensembl chr20:6,268,601...6,289,961 		JBrowse link
G Dxo decapping exoribonuclease ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,993,322...3,995,484
Ensembl chr20:3,993,327...3,995,494 		JBrowse link
G Egfl8 EGF-like-domain, multiple 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,132,930...4,136,024
Ensembl chr20:4,133,629...4,136,018 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674 		JBrowse link
G Fkbpl FKBP prolyl isomerase like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,099,845...4,101,315
Ensembl chr20:4,099,806...4,101,368 		JBrowse link
G Flot1 flotillin 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978 		JBrowse link
G G4 G4 protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,693,691...3,696,194
Ensembl chr20:3,693,649...3,696,088 		JBrowse link
G Gpank1 G patch domain and ankyrin repeats 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,697,641...3,700,814
Ensembl chr20:3,697,641...3,700,858 		JBrowse link
G Gpsm3 G-protein signaling modulator 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,157,123...4,158,984
Ensembl chr20:4,157,123...4,159,035 		JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821 		JBrowse link
G Gtf2h4 general transcription factor 2H subunit 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,071,328...3,076,990
Ensembl chr20:3,071,328...3,076,984 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752 		JBrowse link
G Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,826,725...4,828,742
Ensembl chr20:4,822,026...4,828,742 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Ier3 immediate early response 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583 		JBrowse link
G Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,809,931...5,876,197
Ensembl chr20:5,809,936...5,876,012 		JBrowse link
G Ip6k3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,223,863...5,245,443
Ensembl chr20:5,224,120...5,245,428 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
G Kctd20 potassium channel tetramerization domain containing 20 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,015,828...7,032,766
Ensembl chr20:7,015,833...7,032,761 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,998,832...5,017,107
Ensembl chr20:4,999,047...5,017,105 		JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532 		JBrowse link
G Lsm2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,843,467...3,847,217
Ensembl chr20:3,843,466...3,847,266 		JBrowse link
G Lst1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,634,680...3,639,731
Ensembl chr20:3,634,749...3,637,997 		JBrowse link
G Lta lymphotoxin alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Ltb lymphotoxin beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381 		JBrowse link
G Ly6g5b lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,705,464...3,707,830
Ensembl chr20:3,706,124...3,707,133 		JBrowse link
G Ly6g5c lymphocyte antigen 6 family member G5C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,709,426...3,713,940
Ensembl chr20:3,709,529...3,713,608 		JBrowse link
G Ly6g6c lymphocyte antigen 6 family member G6C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,753,632...3,757,205
Ensembl chr20:3,753,632...3,758,867 		JBrowse link
G Ly6g6d lymphocyte antigen 6 family member G6D ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,741,973...3,752,378
Ensembl chr20:3,737,459...3,752,248 		JBrowse link
G Ly6g6f lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,737,459...3,742,327
Ensembl chr20:3,737,459...3,752,248 		JBrowse link
G Mapk13 mitogen activated protein kinase 13 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Micb MHC class I polypeptide-related sequence B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 1:78,495,779...78,513,030
Ensembl chr 1:78,495,779...78,512,827 		JBrowse link
G Mill1 MHC I like leukocyte 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 1:78,372,798...78,398,932
Ensembl chr 1:78,372,802...78,398,930 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Mln motilin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,304,249...5,308,948
Ensembl chr20:5,304,249...5,308,948 		JBrowse link
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336 		JBrowse link
G Mtch1 mitochondrial carrier 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,389,942...7,413,426
Ensembl chr20:7,389,949...7,413,426 		JBrowse link
G Mucl3 mucin like 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569 		JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799 		JBrowse link
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nudt3 nudix hydrolase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,634,345...5,686,950
Ensembl chr20:5,634,349...5,686,874 		JBrowse link
G Pacsin1 protein kinase C and casein kinase substrate in neurons 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,718,134...5,768,064
Ensembl chr20:5,719,857...5,765,313 		JBrowse link
G Pbx2 PBX homeobox 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,151,500...4,156,425
Ensembl chr20:4,151,500...4,156,425 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,945,959...4,947,433 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871 		JBrowse link
G Pi16 peptidase inhibitor 16 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,376,073...7,385,386
Ensembl chr20:7,376,126...7,385,383 		JBrowse link
G Pnpla1 patatin-like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354 		JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774 		JBrowse link
G Prrc2a proline-rich coiled-coil 2A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130 		JBrowse link
G Prrt1 proline-rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,117,957...4,121,643
Ensembl chr20:4,117,957...4,121,600 		JBrowse link
G Psma3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599 		JBrowse link
G Pxt1 peroxisomal testis enriched protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,002,270...7,005,296
Ensembl chr20:7,002,271...7,006,780 		JBrowse link
G Rab44 RAB44, member RAS oncogene family ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,164,576...7,198,473
Ensembl chr20:7,164,720...7,198,468 		JBrowse link
G Ralgdsl2 ral guanine nucleotide dissociation stimulator like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,948,497...4,969,911 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620 		JBrowse link
G Rnf5 ring finger protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,145,539...4,147,985
Ensembl chr20:4,145,507...4,147,985 		JBrowse link
G Rpl10a ribosomal protein L10A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,388,800...6,391,358
Ensembl chr20:6,385,823...6,391,357
Ensembl chr 9:6,385,823...6,391,357 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,931,427...4,935,538
Ensembl chr20:4,931,768...4,938,315 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-DMa RT1 class II, locus DMa ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432 		JBrowse link
G RT1-DMb RT1 class II, locus DMb ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340 		JBrowse link
G RT1-DOa RT1 class II, locus DOa ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,753,587...4,756,590
Ensembl chr20:4,753,598...4,756,577 		JBrowse link
G RT1-DOb RT1 class II, locus DOb ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,619,418...4,625,627
Ensembl chr20:4,619,816...4,625,667 		JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773 		JBrowse link
G Sapcd1 suppressor APC domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,793,980...3,795,767
Ensembl chr20:3,793,967...3,795,790 		JBrowse link
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584 		JBrowse link
G Sfta2 surfactant associated 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,093,569...3,094,299
Ensembl chr20:3,093,565...3,094,299 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261 		JBrowse link
G Slc26a8 solute carrier family 26 member 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478 		JBrowse link
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		JBrowse link
G Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215 		JBrowse link
G Smim29 small integral membrane protein 29 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,618,845...5,620,856
Ensembl chr20:5,618,845...5,620,813 		JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
Ensembl chr10:5,888,453...5,906,638 		JBrowse link
G Spdef SAM pointed domain containing ets transcription factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,771,440...5,785,893
Ensembl chr20:5,771,441...5,785,893 		JBrowse link
G Srpk1 SRSF protein kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,645,809...6,682,448
Ensembl chr20:6,645,809...6,682,134 		JBrowse link
G Srsf3 serine and arginine rich splicing factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,091,928...7,101,860
Ensembl chr20:7,091,910...7,101,078 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116 		JBrowse link
G Stk38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,034,245...7,067,803
Ensembl chr20:7,034,242...7,068,198 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Taf11 TATA-box binding protein associated factor 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,955,774...5,963,593
Ensembl chr20:5,955,777...5,961,905 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271 		JBrowse link
G Tcp11 t-complex 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,126,267...6,138,408
Ensembl chr20:6,126,269...6,136,055 		JBrowse link
G Tead3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,392,053...6,411,446
Ensembl chr20:6,392,053...6,411,446 		JBrowse link
G Tnf tumor necrosis factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G Tsbp1 testis expressed basic protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,410,002...4,467,284
Ensembl chr20:4,410,004...4,457,053 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073 		JBrowse link
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,202,837...5,214,541
Ensembl chr20:5,202,837...5,214,164
Ensembl chr17:5,202,837...5,214,164 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,860,843...4,931,665 		JBrowse link
G Vwa7 von Willebrand factor A domain containing 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,794,991...3,805,646
Ensembl chr20:3,794,991...3,805,525 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535 		JBrowse link
G Zbtb12 zinc finger and BTB domain containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,937,668...3,940,514 JBrowse link
G Zbtb22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,966,271...4,969,498 		JBrowse link
G Zbtb9 zinc finger and BTB domain containing 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,057,433...5,060,459
Ensembl chr20:5,057,434...5,062,819 		JBrowse link
G Zfp523 zinc finger protein 523 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,234,884...6,266,512
Ensembl chr20:6,243,582...6,266,511 		JBrowse link
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 6 ClinVar
OMIM		 PMID:33727065 PMID:34819510 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
proteosome-associated autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome ClinVar PMID:7517574 PMID:11529920 PMID:12067308 PMID:16199547 PMID:20159315 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome ClinVar PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:28492532 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
proteosome-associated autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomp proteasome maturation protein ISO ClinVar Annotator: match by term: POMP-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715 		JBrowse link
proteosome-associated autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb4 proteasome 20S subunit beta 4 ISO OMIM NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
proteosome-associated autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30664889 NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816 		JBrowse link
proteosome-associated autoinflammatory syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:31783057 PMID:37600812 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
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 Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar		 PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
TNF receptor-associated periodic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
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
OMIM:142680		 CTD
OMIM
ClinVar
MouseDO		 PMID:1144354 PMID:1402641 PMID:7156325 PMID:9529351 PMID:9536098 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Body Temperature Changes 324
          Fever + 274
          Hyperthermia + 20
          Hypothermia + 33
paths to the root