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
Accession: DOID:9008809
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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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
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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 PMID:32181283 PMID:36466854 More...
NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
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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 PMID:35412596 PMID:36926348 More...
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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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
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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
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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
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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 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:27976805 PMID:28492532 PMID:31497877 More...
NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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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
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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 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:27976805 PMID:28492532 PMID:31497877 PMID:35699517 More...
NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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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
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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
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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 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31953236 PMID:35670385 PMID:35699517 More...
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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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 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:33060286 PMID:34440395 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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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 PMID:25957469 PMID:27381093 PMID:28492532 PMID:29314551 PMID:29805041 PMID:30008475 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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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
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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
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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 PMID:23261301 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30868735 PMID:31230720 PMID:31354645 PMID:31680349 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 PMID:35904974 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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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 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:30810840 PMID:31353537 PMID:31625129 PMID:31795558 PMID:32441320 PMID:32666380 PMID:33549127 More...
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 More...
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Plcg2
phospholipase C, gamma 2
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:25741868
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Nlrp3
NLR family, pyrin domain containing 3
ISO ISS
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 OMIM:120100
OMIM ClinVar MouseDO
PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12483741 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15231984 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16449034 PMID:16802372 PMID:16871551 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17284928 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18063752 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20131270 PMID:20159265 PMID:20182451 PMID:20472245 PMID:20506209 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21637346 PMID:21702021 PMID:21810457 PMID:22128899 PMID:22146561 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27548431 PMID:27612399 PMID:27650144 PMID:27692610 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28501347 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29152264 PMID:29159471 PMID:29163488 PMID:29322034 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30069026 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30772614 PMID:30808881 PMID:31172726 PMID:31442672 PMID:32082075 PMID:32199921 PMID:32477355 PMID:33020839 PMID:33329557 PMID:34099780 PMID:35668534 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Myadm
myeloid-associated differentiation marker
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035
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Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25064839 PMID:25640679 PMID:25741868 PMID:26508570 PMID:27314497 PMID:27633793 PMID:28166811 PMID:28492532 PMID:29500522 PMID:30783801 PMID:30788684 PMID:30858956 PMID:31155445 PMID:31820221 PMID:32888943 PMID:33042144 PMID:34975878 More...
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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Prkcg
protein kinase C, gamma
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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Rapgefl1
Rap guanine nucleotide exchange factor like 1
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar
NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371
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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
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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
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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
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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
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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
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Plcg2
phospholipase C, gamma 2
ISO
ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 PMID:24869598 PMID:25640679 PMID:25741868 PMID:27577878 PMID:28166811 PMID:28492532 PMID:29590070 PMID:29921932 PMID:30273710 PMID:30344948 PMID:30619256 PMID:31853824 PMID:32047491 PMID:32185379 PMID:32671674 PMID:32894242 PMID:33859323 PMID:33936634 PMID:34329649 PMID:35753512 PMID:38790019 More...
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Dpy30
dpy-30 histone methyltransferase complex regulatory subunit
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
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Memo1
mediator of cell motility 1
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
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Nlrc4
NLR family, CARD domain containing 4
ISO ISS
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 PMID:22406018 PMID:24033266 PMID:25217959 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28492532 PMID:29326099 PMID:29778503 PMID:30783801 PMID:30864118 PMID:31597739 PMID:32081864 PMID:32529290 PMID:33822359 PMID:34248956 More...
NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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Slc30a6
solute carrier family 30 member 6
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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Spast
spastin
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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Srd5a2
steroid 5 alpha-reductase 2
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
ClinVar
PMID:28492532
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:16455768 More...
RGD:1626671
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
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
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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
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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
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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
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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 PMID:10879615 PMID:11464248 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:30171907 PMID:33223529 More...
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ptges
prostaglandin E synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25164664
NCBI chr 3:14,177,892...14,189,236
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:1743490 PMID:1774073 PMID:1774074 PMID:1810122 PMID:3356401 PMID:4149045 PMID:7299413 PMID:7511586 PMID:7547049 PMID:7586638 PMID:7633940 PMID:7751854 PMID:7762556 PMID:7889656 PMID:8401544 PMID:8602662 PMID:8661021 PMID:8828983 PMID:9199552 PMID:9334205 PMID:9389851 PMID:9450902 PMID:9497245 PMID:9520251 PMID:9536098 PMID:9873004 PMID:10051009 PMID:10352931 PMID:10484775 PMID:10756965 PMID:10823104 PMID:11448278 PMID:11493496 PMID:11553045 PMID:11575529 PMID:11668625 PMID:11709545 PMID:11741831 PMID:12059893 PMID:12124989 PMID:12151923 PMID:12208234 PMID:12220451 PMID:12237752 PMID:12411788 PMID:12434264 PMID:12642598 PMID:12700608 PMID:12732639 PMID:12937085 PMID:14500992 PMID:14670767 PMID:14732627 PMID:14985404 PMID:15175001 PMID:15210166 PMID:15299003 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16199547 PMID:16244001 PMID:16272262 PMID:16372898 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16732090 PMID:16835904 PMID:16917943 PMID:16940308 PMID:16958617 PMID:17033962 PMID:17081152 PMID:17204937 PMID:17365175 PMID:17483490 PMID:17576681 PMID:17667581 PMID:17710899 PMID:17968765 PMID:18063506 PMID:18171678 PMID:18193641 PMID:18253926 PMID:18414213 PMID:18502356 PMID:18505122 PMID:18564801 PMID:18765655 PMID:18813041 PMID:19191329 PMID:19191333 PMID:19346234 PMID:19513315 PMID:19648156 PMID:19685112 PMID:19807743 PMID:19825159 PMID:19919814 PMID:20080402 PMID:20142353 PMID:20301325 PMID:20566647 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20981092 PMID:21062345 PMID:21118704 PMID:21157159 PMID:21455645 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21878807 PMID:21911697 PMID:21918424 PMID:22030266 PMID:22415532 PMID:22418739 PMID:22473935 PMID:22696611 PMID:22851008 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23204524 PMID:23308296 PMID:23329375 PMID:23394784 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23478172 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24033266 PMID:24055113 PMID:24088041 PMID:24195946 PMID:24215330 PMID:24361844 PMID:24433488 PMID:24627108 PMID:24950660 PMID:24951453 PMID:24961629 PMID:25086907 PMID:25214167 PMID:25268394 PMID:25326635 PMID:25428687 PMID:25476234 PMID:25517095 PMID:25525159 PMID:25558065 PMID:25635128 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25989378 PMID:26019235 PMID:26068069 PMID:26115329 PMID:26332594 PMID:26381711 PMID:26467025 PMID:26578207 PMID:26633545 PMID:26951757 PMID:27058611 PMID:27147545 PMID:27153395 PMID:27159402 PMID:27363342 PMID:27382027 PMID:27431030 PMID:27452334 PMID:27545679 PMID:27558158 PMID:27586648 PMID:27616680 PMID:27646467 PMID:27854218 PMID:27857962 PMID:27918309 PMID:28007021 PMID:28259615 PMID:28269792 PMID:28357410 PMID:28492532 PMID:28687594 PMID:28818389 PMID:29169929 PMID:29172004 PMID:29298851 PMID:29344738 PMID:29382405 PMID:29417091 PMID:29629541 PMID:29635721 PMID:29792937 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30291343 PMID:30325262 PMID:30406384 PMID:30499100 PMID:30609409 PMID:30611313 PMID:30652412 PMID:30788618 PMID:30827497 PMID:30842289 PMID:30864471 PMID:30872186 PMID:31016048 PMID:31055738 PMID:31107960 PMID:31127727 PMID:31165076 PMID:31206373 PMID:31304636 PMID:31407473 PMID:31447099 PMID:31517061 PMID:31559918 PMID:31589614 PMID:31680123 PMID:31680349 PMID:31851124 PMID:31994743 PMID:32054689 PMID:32236737 PMID:32304219 PMID:32403337 PMID:32528171 PMID:32665702 PMID:32978841 PMID:33037202 PMID:33146414 PMID:33333461 PMID:33458582 PMID:33490280 PMID:33564012 PMID:33625594 PMID:33646171 PMID:33767344 PMID:34000440 PMID:34008892 PMID:34316023 PMID:34411415 PMID:34428338 PMID:34440373 PMID:34463354 PMID:34625927 PMID:34645488 PMID:34904211 PMID:35081925 PMID:35285867 PMID:35428369 PMID:35535697 PMID:35548885 PMID:35549722 PMID:35599849 PMID:35627144 PMID:35697689 PMID:36208971 PMID:36283893 PMID:36474027 PMID:36628841 PMID:37273706 PMID:37510298 PMID:37541188 PMID:37937776 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27147545 PMID:28011884 PMID:28492532 PMID:29193480 PMID:29212769 More...
NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
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 PMID:1329581 PMID:1354642 PMID:1510267 PMID:1639409 PMID:1743490 PMID:1774073 PMID:1774074 PMID:1810122 PMID:1862346 PMID:2047609 PMID:2842332 PMID:3356401 PMID:3626847 PMID:4149045 PMID:6917943 PMID:7299413 PMID:7511586 PMID:7547049 PMID:7554356 PMID:7586638 PMID:7633940 PMID:7751854 PMID:7762556 PMID:7829078 PMID:7849712 PMID:7881417 PMID:7889656 PMID:8010475 PMID:8012359 PMID:8220422 PMID:8220423 PMID:8401544 PMID:8592342 PMID:8602662 PMID:8661021 PMID:8825043 PMID:8828983 PMID:9030597 PMID:9066328 PMID:9106529 PMID:9138151 PMID:9199552 PMID:9334205 PMID:9389851 PMID:9450902 PMID:9497245 PMID:9520251 PMID:9536098 PMID:9543323 PMID:9831351 PMID:9873004 PMID:10051009 PMID:10097181 PMID:10352931 PMID:10484775 PMID:10612851 PMID:10700782 PMID:10756965 PMID:10793526 PMID:10823104 PMID:10888602 PMID:11063719 PMID:11135728 PMID:11274444 PMID:11448278 PMID:11493496 PMID:11524458 PMID:11525881 PMID:11553045 PMID:11575529 PMID:11668625 PMID:11673462 PMID:11709545 PMID:11741831 PMID:11873057 PMID:11928716 PMID:12059893 PMID:12066726 PMID:12123492 PMID:12124989 PMID:12136074 PMID:12151923 PMID:12208234 PMID:12220451 PMID:12237752 PMID:12411786 PMID:12411788 PMID:12434264 PMID:12467748 PMID:12565913 PMID:12642598 PMID:12700608 PMID:12709367 PMID:12732639 PMID:12883402 PMID:12937085 PMID:14500992 PMID:14641996 PMID:14670767 PMID:14708096 PMID:14732627 PMID:14985404 PMID:14999498 PMID:15108991 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15281512 PMID:15299003 PMID:15347586 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16199547 PMID:16244001 PMID:16272262 PMID:16284304 PMID:16372898 PMID:16380615 PMID:16521288 PMID:16621918 PMID:16732084 PMID:16732090 PMID:16732128 PMID:16835904 PMID:16917943 PMID:16940308 PMID:16958617 PMID:17033962 PMID:17081125 PMID:17081152 PMID:17122579 PMID:17204054 PMID:17204937 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17538032 PMID:17576681 PMID:17667581 PMID:17667681 PMID:17710899 PMID:17968765 PMID:18063506 PMID:18171678 PMID:18193641 PMID:18212565 PMID:18253926 PMID:18306019 PMID:18414213 PMID:18502356 PMID:18505122 PMID:18564801 PMID:18719443 PMID:18765655 PMID:18813041 PMID:18945287 PMID:19015156 PMID:19020143 PMID:19027160 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19454545 PMID:19513315 PMID:19541610 PMID:19645060 PMID:19648156 PMID:19658156 PMID:19685112 PMID:19797833 PMID:19807743 PMID:19825159 PMID:19919814 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20301325 PMID:20301436 PMID:20301565 PMID:20439600 PMID:20461000 PMID:20566647 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20952238 PMID:20981092 PMID:21062345 PMID:21118704 PMID:21156754 PMID:21157159 PMID:21282829 PMID:21455645 PMID:21503806 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21804810 PMID:21825032 PMID:21878807 PMID:21911697 PMID:21918424 PMID:21965348 PMID:22030266 PMID:22203976 PMID:22407809 PMID:22415532 PMID:22418739 PMID:22473935 PMID:22526018 PMID:22696611 PMID:22705209 PMID:22734812 PMID:22851008 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23069638 PMID:23127960 PMID:23159934 PMID:23183335 PMID:23204524 PMID:23308296 PMID:23329375 PMID:23394784 PMID:23422674 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23478172 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23736090 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24013571 PMID:24033266 PMID:24053352 PMID:24055113 PMID:24088041 PMID:24091937 PMID:24195946 PMID:24215330 PMID:24319099 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24627108 PMID:24950660 PMID:24951453 PMID:24961629 PMID:25084811 PMID:25086907 PMID:25214167 PMID:25256590 PMID:25268394 PMID:25326635 PMID:25428687 PMID:25461839 PMID:25466363 PMID:25476234 PMID:25517095 PMID:25521991 PMID:25525159 PMID:25558065 PMID:25611019 PMID:25614869 PMID:25635128 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25749300 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25987458 PMID:25989378 PMID:26019235 PMID:26068069 PMID:26115329 PMID:26275793 PMID:26332594 PMID:26381711 PMID:26467025 PMID:26565425 PMID:26578207 PMID:26633545 PMID:26841830 PMID:26951757 PMID:26994242 PMID:27005958 PMID:27058611 PMID:27066551 PMID:27147545 PMID:27153395 PMID:27159402 PMID:27234031 PMID:27353517 PMID:27363342 PMID:27382027 PMID:27431030 PMID:27447704 PMID:27452334 PMID:27545679 PMID:27555149 PMID:27558158 PMID:27586648 PMID:27616680 PMID:27646467 PMID:27663056 PMID:27708273 PMID:27831900 PMID:27854218 PMID:27857962 PMID:27918309 PMID:28003660 PMID:28007021 PMID:28063098 PMID:28078069 PMID:28166811 PMID:28224104 PMID:28259615 PMID:28269792 PMID:28290972 PMID:28325813 PMID:28326467 PMID:28357410 PMID:28403410 PMID:28424332 PMID:28492532 PMID:28496993 PMID:28527222 PMID:28687594 PMID:28750945 PMID:28818389 PMID:29028638 PMID:29096039 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29261186 PMID:29298851 PMID:29344738 PMID:29355282 PMID:29382405 PMID:29417091 PMID:29576327 PMID:29608462 PMID:29629541 PMID:29635721 PMID:29667327 PMID:29701772 PMID:29792937 PMID:29802573 PMID:30115273 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30236258 PMID:30291343 PMID:30325262 PMID:30406384 PMID:30499100 PMID:30609409 PMID:30611313 PMID:30652412 PMID:30724636 PMID:30755392 PMID:30788618 PMID:30827497 PMID:30842289 PMID:30864471 PMID:30872186 PMID:30916033 PMID:31016048 PMID:31055738 PMID:31068157 PMID:31107960 PMID:31127727 PMID:31130284 PMID:31135626 PMID:31165076 PMID:31206373 PMID:31301762 PMID:31304636 PMID:31321302 PMID:31395954 PMID:31407473 PMID:31447099 PMID:31517061 PMID:31559918 PMID:31589614 PMID:31618753 PMID:31680123 PMID:31680349 PMID:31742715 PMID:31841587 PMID:31851124 PMID:31903994 PMID:31994743 PMID:32054689 PMID:32098966 PMID:32236737 PMID:32304219 PMID:32371413 PMID:32403337 PMID:32461654 PMID:32528171 PMID:32600061 PMID:32665702 PMID:32861507 PMID:32899693 PMID:32978841 PMID:33037202 PMID:33060286 PMID:33146414 PMID:33176865 PMID:33190635 PMID:33258288 PMID:33259453 PMID:33333461 PMID:33458582 PMID:33490280 PMID:33564012 PMID:33625594 PMID:33646171 PMID:33726816 PMID:33758288 PMID:33767344 PMID:34000440 PMID:34008892 PMID:34106991 PMID:34127251 PMID:34316023 PMID:34411415 PMID:34426522 PMID:34428338 PMID:34440373 PMID:34463354 PMID:34535181 PMID:34595679 PMID:34625927 PMID:34645488 PMID:34809703 PMID:34904211 PMID:35081925 PMID:35285867 PMID:35361824 PMID:35387801 PMID:35428369 PMID:35535697 PMID:35548885 PMID:35549722 PMID:35599849 PMID:35627144 PMID:35666680 PMID:35693006 PMID:35697689 PMID:35846108 PMID:35849058 PMID:36100962 PMID:36208971 PMID:36283893 PMID:36474027 PMID:36628841 PMID:37273706 PMID:37510298 PMID:37541188 PMID:37712079 PMID:37937776 PMID:39033378 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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
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 PMID:7987325 PMID:8004673 PMID:8605978 PMID:9066893 PMID:9132138 PMID:9199552 PMID:9512357 PMID:9536098 PMID:9852570 PMID:10074484 PMID:10523403 PMID:10590402 PMID:10639629 PMID:11034874 PMID:11260227 PMID:11328898 PMID:11353725 PMID:11555352 PMID:11591859 PMID:11808349 PMID:11940049 PMID:12411788 PMID:15098604 PMID:15201141 PMID:15711422 PMID:15716625 PMID:15726306 PMID:16163667 PMID:16199547 PMID:17418573 PMID:17576681 PMID:17587224 PMID:18162704 PMID:18229654 PMID:18325191 PMID:18835861 PMID:19118277 PMID:19225109 PMID:19822448 PMID:19825159 PMID:20213496 PMID:20301512 PMID:20431982 PMID:20861472 PMID:21841462 PMID:22547813 PMID:22901280 PMID:22992668 PMID:23019082 PMID:23187123 PMID:23662824 PMID:23663834 PMID:24013571 PMID:24033266 PMID:24055113 PMID:24195946 PMID:24433488 PMID:24784157 PMID:25132214 PMID:25213595 PMID:25430699 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26188342 PMID:26247046 PMID:26252573 PMID:26332594 PMID:26467025 PMID:26994242 PMID:27147545 PMID:28008999 PMID:28011884 PMID:28012042 PMID:28166811 PMID:28259615 PMID:28325641 PMID:28326467 PMID:28492532 PMID:28686619 PMID:28779239 PMID:28857175 PMID:28972032 PMID:29193480 PMID:29212769 PMID:29572832 PMID:29792937 PMID:30090141 PMID:30236257 PMID:30325262 PMID:31068157 PMID:31227654 PMID:31380823 PMID:31447099 PMID:31567646 PMID:31851124 PMID:33042247 PMID:33060286 PMID:33184660 PMID:33564012 PMID:33667896 PMID:34008892 PMID:34440373 PMID:34608571 PMID:34777470 PMID:34804722 PMID:35509735 PMID:9199552 More...
RGD:1300373
NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
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
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
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 PMID:1329581 PMID:1354642 PMID:1510267 PMID:1639409 PMID:1743490 PMID:1774073 PMID:1774074 PMID:1810122 PMID:1862346 PMID:2047609 PMID:2842332 PMID:3356401 PMID:3626847 PMID:4149045 PMID:6917943 PMID:7299413 PMID:7511586 PMID:7547049 PMID:7554356 PMID:7586638 PMID:7633940 PMID:7751854 PMID:7762556 PMID:7829078 PMID:7849712 PMID:7881417 PMID:7889656 PMID:8010475 PMID:8012359 PMID:8220422 PMID:8220423 PMID:8401544 PMID:8592342 PMID:8602662 PMID:8661021 PMID:8825043 PMID:8828983 PMID:9030597 PMID:9066328 PMID:9106529 PMID:9138151 PMID:9199552 PMID:9334205 PMID:9389851 PMID:9450902 PMID:9497245 PMID:9520251 PMID:9536098 PMID:9543323 PMID:9831351 PMID:9873004 PMID:10051009 PMID:10097181 PMID:10352931 PMID:10484775 PMID:10612851 PMID:10700782 PMID:10756965 PMID:10793526 PMID:10823104 PMID:10888602 PMID:11063719 PMID:11113224 PMID:11135728 PMID:11274444 PMID:11448278 PMID:11493496 PMID:11524458 PMID:11525881 PMID:11553045 PMID:11575529 PMID:11668625 PMID:11673462 PMID:11695996 PMID:11709545 PMID:11741831 PMID:11873057 PMID:11928716 PMID:12059893 PMID:12066726 PMID:12123492 PMID:12124989 PMID:12136074 PMID:12151923 PMID:12161072 PMID:12208234 PMID:12220451 PMID:12237752 PMID:12411786 PMID:12411788 PMID:12434264 PMID:12467748 PMID:12565913 PMID:12642598 PMID:12700608 PMID:12709367 PMID:12732639 PMID:12883402 PMID:12937085 PMID:14500992 PMID:14570802 PMID:14641996 PMID:14670767 PMID:14708096 PMID:14732627 PMID:14985404 PMID:14999498 PMID:15108991 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15281512 PMID:15299003 PMID:15347586 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16199547 PMID:16244001 PMID:16244682 PMID:16272262 PMID:16284304 PMID:16372898 PMID:16380615 PMID:16521288 PMID:16621918 PMID:16732080 PMID:16732084 PMID:16732090 PMID:16732128 PMID:16835904 PMID:16917943 PMID:16940308 PMID:16958617 PMID:17033962 PMID:17081125 PMID:17081152 PMID:17122579 PMID:17204054 PMID:17204937 PMID:17226826 PMID:17293538 PMID:17365175 PMID:17483490 PMID:17538032 PMID:17576681 PMID:17667581 PMID:17667681 PMID:17707769 PMID:17710899 PMID:17968765 PMID:18063506 PMID:18171678 PMID:18193641 PMID:18212565 PMID:18253926 PMID:18306019 PMID:18414213 PMID:18502356 PMID:18505122 PMID:18564801 PMID:18719443 PMID:18765655 PMID:18813041 PMID:18945287 PMID:19015156 PMID:19020143 PMID:19027160 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19442771 PMID:19454545 PMID:19513315 PMID:19541610 PMID:19645060 PMID:19648156 PMID:19658156 PMID:19685112 PMID:19797833 PMID:19807743 PMID:19825159 PMID:19919814 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20301325 PMID:20301436 PMID:20301565 PMID:20439600 PMID:20461000 PMID:20566647 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20952238 PMID:20981092 PMID:21062345 PMID:21088110 PMID:21118704 PMID:21156754 PMID:21157159 PMID:21282829 PMID:21455645 PMID:21485675 PMID:21503806 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21804810 PMID:21825032 PMID:21878807 PMID:21911697 PMID:21918424 PMID:21965348 PMID:22030266 PMID:22203976 PMID:22407809 PMID:22415532 PMID:22418739 PMID:22473935 PMID:22526018 PMID:22550088 PMID:22696611 PMID:22705209 PMID:22734812 PMID:22851008 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23069638 PMID:23127960 PMID:23159934 PMID:23183335 PMID:23204524 PMID:23308296 PMID:23329375 PMID:23394784 PMID:23422674 PMID:23456818 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23478172 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23736090 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24013571 PMID:24033266 PMID:24053352 PMID:24055113 PMID:24088041 PMID:24091937 PMID:24195946 PMID:24215330 PMID:24319099 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24627108 PMID:24706162 PMID:24950660 PMID:24951453 PMID:24961629 PMID:25084811 PMID:25086907 PMID:25214167 PMID:25256590 PMID:25268394 PMID:25326635 PMID:25356970 PMID:25428687 PMID:25461839 PMID:25466363 PMID:25476234 PMID:25517095 PMID:25521991 PMID:25525159 PMID:25558065 PMID:25611019 PMID:25614869 PMID:25628744 PMID:25635128 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25741909 PMID:25747005 PMID:25749300 PMID:25882082 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25987458 PMID:25989378 PMID:26019235 PMID:26068069 PMID:26115329 PMID:26275793 PMID:26332594 PMID:26381711 PMID:26467025 PMID:26565425 PMID:26578207 PMID:26631338 PMID:26633545 PMID:26684984 PMID:26833332 PMID:26841830 PMID:26951757 PMID:26994242 PMID:27005958 PMID:27058611 PMID:27066551 PMID:27147545 PMID:27153395 PMID:27159402 PMID:27234031 PMID:27353517 PMID:27363342 PMID:27382027 PMID:27431030 PMID:27447704 PMID:27452334 PMID:27545679 PMID:27555149 PMID:27558158 PMID:27586648 PMID:27616680 PMID:27646467 PMID:27663056 PMID:27708273 PMID:27831900 PMID:27854218 PMID:27857962 PMID:27918309 PMID:28003660 PMID:28007021 PMID:28063098 PMID:28078069 PMID:28166811 PMID:28224104 PMID:28259615 PMID:28269792 PMID:28290972 PMID:28325813 PMID:28326467 PMID:28357410 PMID:28403410 PMID:28424332 PMID:28492532 PMID:28496993 PMID:28527222 PMID:28584051 PMID:28687594 PMID:28750945 PMID:28818389 PMID:29028638 PMID:29096039 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29261186 PMID:29298851 PMID:29344738 PMID:29355282 PMID:29382405 PMID:29417091 PMID:29556213 PMID:29576327 PMID:29608462 PMID:29629541 PMID:29635721 PMID:29667327 PMID:29669168 PMID:29701772 PMID:29792937 PMID:29802573 PMID:30115273 PMID:30122538 PMID:30155320 PMID:30155738 PMID:30236257 PMID:30236258 PMID:30291343 PMID:30325262 PMID:30329129 PMID:30406384 PMID:30499100 PMID:30609409 PMID:30611313 PMID:30652412 PMID:30724636 PMID:30755392 PMID:30788618 PMID:30827497 PMID:30842289 PMID:30864471 PMID:30872186 PMID:30916033 PMID:31016048 PMID:31055738 PMID:31068157 PMID:31107960 PMID:31127727 PMID:31130284 PMID:31135626 PMID:31165076 PMID:31206373 PMID:31301762 PMID:31304636 PMID:31321302 PMID:31395954 PMID:31407473 PMID:31447099 PMID:31517061 PMID:31559918 PMID:31589614 PMID:31618753 PMID:31680123 PMID:31680349 PMID:31742715 PMID:31841587 PMID:31851124 PMID:31903994 PMID:31994743 PMID:32054689 PMID:32098966 PMID:32165824 PMID:32236737 PMID:32304219 PMID:32337335 PMID:32371413 PMID:32403337 PMID:32461654 PMID:32528171 PMID:32600061 PMID:32665702 PMID:32861507 PMID:32899693 PMID:32919876 PMID:32978841 PMID:33037202 PMID:33060286 PMID:33146414 PMID:33176865 PMID:33190635 PMID:33258288 PMID:33259453 PMID:33333461 PMID:33458582 PMID:33490280 PMID:33564012 PMID:33625594 PMID:33646171 PMID:33726816 PMID:33758288 PMID:33767344 PMID:34000440 PMID:34008892 PMID:34106991 PMID:34127251 PMID:34316023 PMID:34411415 PMID:34426522 PMID:34428338 PMID:34440373 PMID:34463354 PMID:34535181 PMID:34595679 PMID:34625927 PMID:34645488 PMID:34809703 PMID:34904211 PMID:35081925 PMID:35178478 PMID:35285867 PMID:35361824 PMID:35387801 PMID:35428369 PMID:35535697 PMID:35548885 PMID:35549722 PMID:35599849 PMID:35627144 PMID:35666680 PMID:35693006 PMID:35697689 PMID:35846108 PMID:35849058 PMID:36100962 PMID:36208971 PMID:36283893 PMID:36474027 PMID:36628841 PMID:37273706 PMID:37510298 PMID:37541188 PMID:37712079 PMID:37937776 PMID:39033378 PMID:214555645 PMID:34257294 PMID:34980804 PMID:30236258 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
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
G
Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Malignant hypothermia
ClinVar
PMID:14732627 PMID:16163667 PMID:16732084 PMID:16917943 PMID:18253926 PMID:18414213 PMID:19191329 PMID:19191333 PMID:20839240 PMID:20981092 PMID:21455645 PMID:21503806 PMID:21674524 PMID:22913516 PMID:22995991 PMID:23183335 PMID:23204524 PMID:23329375 PMID:23558838 PMID:23628358 PMID:24195946 PMID:25735680 PMID:25741868 PMID:25957634 PMID:26467025 PMID:26994242 PMID:27153395 PMID:28003660 PMID:28492532 PMID:30122538 PMID:30611313 PMID:30724636 PMID:32236737 PMID:33333461 PMID:33458582 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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
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
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
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 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:30177536 PMID:31680349 PMID:33216040 PMID:36634413 More...
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18398509 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:28518170 PMID:29382405 PMID:29390429 PMID:29399782 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32403337 PMID:32528171 PMID:34791078 More...
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30868735 PMID:31230720 PMID:31680349 PMID:32536119 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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
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
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
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
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 PMID:25741868 PMID:27896077 PMID:28492532 More...
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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 PMID:28411587 PMID:28492532 PMID:28777491 PMID:30168660 PMID:31219695 PMID:32492370 More...
NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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 PMID:21953331 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 PMID:37600812 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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 PMID:20534754 PMID:21129723 PMID:21953331 PMID:23662797 PMID:23768303 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 PMID:28895430 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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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
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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
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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
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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
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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
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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 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 PMID:29610179 PMID:30758723 PMID:31019026 PMID:31338833 PMID:31664448 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33646446 PMID:33936027 PMID:34510712 More...
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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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
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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 PMID:9585614 PMID:10199409 PMID:10902757 PMID:11175303 PMID:11239851 PMID:11443543 PMID:11700162 PMID:11722598 PMID:11817598 PMID:12352631 PMID:12520003 PMID:13130484 PMID:14610673 PMID:15216558 PMID:15228183 PMID:15280569 PMID:15312137 PMID:15492850 PMID:16199547 PMID:16508982 PMID:16635178 PMID:16684962 PMID:16707534 PMID:17576681 PMID:18180277 PMID:18408954 PMID:18512793 PMID:19541728 PMID:19917181 PMID:20457915 PMID:20532935 PMID:20576331 PMID:21029567 PMID:21113948 PMID:21420073 PMID:22311714 PMID:22343913 PMID:22566169 PMID:22801493 PMID:22918594 PMID:23117241 PMID:23322460 PMID:23745996 PMID:23894535 PMID:23965844 PMID:24033266 PMID:24064022 PMID:24251727 PMID:24295430 PMID:24393624 PMID:25326637 PMID:25387410 PMID:25640679 PMID:25741868 PMID:25936627 PMID:26078218 PMID:26598380 PMID:27264265 PMID:27332769 PMID:28492532 PMID:28814775 PMID:29047407 PMID:31216807 PMID:31429073 PMID:31562507 PMID:32248184 PMID:32380704 PMID:32831641 PMID:35753512 More...
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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