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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Body Temperature Changes
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Accession:DOID:9008809 term browser browse the term
Definition:Significant alterations in temperature of the human body, above or below 98.6 degrees F. or 37 degrees C. when taken orally.
Synonyms:exact_synonym: Body Temperature Change
 primary_id: MESH:D001832



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Autoinflammation with Episodic Fever and Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31827280 PMID:31827281 NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
JBrowse link
autosomal dominant familial periodic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal Dominant Familial Periodic Fever | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
OMIM:142680
CTD
OMIM
ClinVar
MouseDO
PMID:1144354 PMID:1402641 PMID:7156325 PMID:9529351 PMID:9536098 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cold-induced sweating syndrome
CTD
ClinVar
PMID:20186812 PMID:25741868 NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar
PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Pterygium universale
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: PTERYGIUM SYNDROME, MULTIPLE ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO CTD Direct Evidence: marker/mechanism
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
OMIM
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16826520 PMID:16826531 PMID:22167768 PMID:23261301 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP RGD PMID:2460123 RGD:10046042 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
JBrowse link
G Cbr1 carbonyl reductase 1 IEP mRNA:decreased expression:liver, lung RGD PMID:12399253 RGD:2316279 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:27565679 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IDA RGD PMID:15066130 RGD:2307192 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:meninges (rat) RGD PMID:19582783 RGD:2314489 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IMP
ISO
RGD PMID:15066130 PMID:23999490 RGD:2307192, RGD:8552232 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19681872 RGD:2314645 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11852909 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9740541 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Drd1 dopamine receptor D1 IEP mRNA:increased expression:brain meninges, brain vasculature (rat) RGD PMID:19582783 RGD:2314489 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
JBrowse link
G Epha3 Eph receptor A3 IEP mRNA, protein:decreased expression:lung, liver RGD PMID:15671251 RGD:1581943 NCBI chr11:1,138,485...1,474,102
Ensembl chr11:1,140,985...1,473,900
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:31422080 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human) RGD PMID:24934404 RGD:10449114 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19265175 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565
JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase IEP mRNA:decreased expression:liver, lung RGD PMID:12399253 RGD:2316279 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
JBrowse link
G Hsf1 heat shock transcription factor 1 IEP associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat) RGD PMID:22427437 RGD:10402781 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21990073 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19879056 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:3091246 PMID:18282668 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
protein:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9952427 PMID:11852909 PMID:15384034 PMID:22143887 PMID:25164664 More... RGD:1626671 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist IDA
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:16096327 PMID:16455768 RGD:1626671 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8635092 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il6 interleukin 6 IEP
ISO
protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7537110 PMID:11852909 PMID:15384034 PMID:22042912 RGD:7241096 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25429137 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Episodic fever ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Fever ClinVar NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9495865 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Pla2g4a phospholipase A2 group IVA IEP protein:increased phosphorylation:lung RGD PMID:16933973 RGD:1642453 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Episodic fever ClinVar NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:31422080 PMID:32437895 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO RGD PMID:9751056 RGD:737727 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
JBrowse link
G Ptges prostaglandin E synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25164664 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25164664 PMID:21741371 RGD:5508203 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): RGD PMID:23052617 RGD:13207414 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11165872 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Star steroidogenic acute regulatory protein IEP protein:decreased expression:testis (rat) RGD PMID:20389168 RGD:4845252 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25429137 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:22042912 RGD:7241096 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28726298 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10379864 PMID:11852909 PMID:15384034 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10902757 PMID:11175303 PMID:10902757 RGD:1624177, RGD:1624177 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tph2 tryptophan hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20722968 NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:50,685,694...50,789,424
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Episodic fever ClinVar PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Vim vimentin IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
Fever of Unknown Origin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein ISO RGD PMID:7506886 RGD:9491382 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
Hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34082047 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
Hypothermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss1 acyl-CoA synthetase short-chain family member 1 ISO RGD PMID:19187775 RGD:13831305 NCBI chr 3:139,450,383...139,500,325
Ensembl chr 3:139,450,383...139,500,325
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:increased expression:prostate gland ventral lobe (rat) RGD PMID:25996932 RGD:10402397 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Btk Bruton tyrosine kinase exacerbates ISO Associated with Endotoxemia; with Itk knockout RGD PMID:26581914 RGD:11533169 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 IEP RGD PMID:16469832 RGD:2311385 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14982698 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Cirbp cold inducible RNA binding protein severity IMP RGD PMID:31271215 RGD:329961299 NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9888857 PMID:27149200 PMID:27535976 PMID:31877572 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IEP RGD PMID:16469832 RGD:2311385 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Fas Fas cell surface death receptor IEP associated with Ischemic Attack, Transient; protein:decreased expression:brain (rat) RGD PMID:18410517 RGD:2311437 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand IEP associated with Brain Ischemia RGD PMID:18410517 RGD:2311437 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:10464538 NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26799708 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210
JBrowse link
G Hsf1 heat shock transcription factor 1 IEP mRNA:increased expression:prostate gland ventral lobe (rat) RGD PMID:25996932 RGD:10402397 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Mdm2 MDM2 proto-oncogene IEP associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) RGD PMID:15777295 RGD:2317393 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:30366073 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24675228 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Oprd1 opioid receptor, delta 1 IEP mRNA:increased expression:hypothalamus RGD PMID:21377399 RGD:401901086 NCBI chr 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960
JBrowse link
G Pf4 platelet factor 4 ISO protein:increased expression:plasma RGD PMID:31237986 RGD:401794437 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
JBrowse link
G Ppbp pro-platelet basic protein ISO protein:increased expression:plasma RGD PMID:31237986 RGD:401794437 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:30366073 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Selp selectin P ISO protein:increased expression: red pulp of spleen RGD PMID:31237986 RGD:401794437 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11731100 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 PMID:34942311 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
JBrowse link
G Ttr transthyretin IEP mRNA:decreased expression:frontal cortex RGD PMID:21377399 RGD:401901086 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Vwf von Willebrand factor ISO mRNA,protein:increased expression:spleen RGD PMID:31237986 RGD:401794437 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
G Zfp91 zinc finger protein 91 ISO CTD Direct Evidence: therapeutic CTD PMID:34942311 NCBI chr 1:209,891,344...209,928,890
Ensembl chr 1:209,891,344...209,927,762
JBrowse link
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM
ClinVar
PMID:4831644 PMID:31201888 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
JBrowse link
King Denborough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome ClinVar PMID:16940 PMID:18253 PMID:18564 PMID:1329581 PMID:1510267 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
Malignant Fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pharmacogenic myopathy
ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy
ClinVar PMID:12434 PMID:16940 PMID:18253 PMID:18564 PMID:1256913 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
malignant hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia ClinVar NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO DNA,protein:missense mutation:cds:p.R1086H (human)
ClinVar Annotator: match by term: 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, 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:7847370 PMID:7987325 PMID:8004673 More... RGD:1300373 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 ISO RGD PMID:8395940 RGD:734675 NCBI chr10:92,652,924...92,665,612
Ensembl chr10:92,652,614...92,665,783
JBrowse link
G Casq1 calsequestrin 1 ISO RGD PMID:19237502 RGD:329813080 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
JBrowse link
G Ryr1 ryanodine receptor 1 treatment ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant 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
ClinVar
OMIM
MouseDO
RGD
PMID:12434 PMID:16940 PMID:18253 PMID:18564 PMID:1256913 More... RGD:329812001, RGD:329812000, RGD:329811997 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia ClinVar PMID:25741868 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
JBrowse link
Malignant Hypothermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Malignant hypothermia ClinVar PMID:14732627 PMID:16163667 PMID:16732084 PMID:16917943 PMID:18253926 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM
CTD
ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 PMID:9158151 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM
CTD
ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM
CTD
ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
JBrowse link
Periodic Fever, Menstrual Cycle-Dependent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htr1a 5-hydroxytryptamine receptor 1A ISO ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21990073 PMID:25741868 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442
JBrowse link
PFAPA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:mutations:cds RGD PMID:21914217 RGD:13204855 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    Pathological Conditions, Signs and Symptoms 13286
      Signs and Symptoms 10764
        Body Temperature Changes 107
          Fever + 62
          Hyperthermia + 15
          Hypothermia + 33
paths to the root