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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;   RDO:0005028
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Body Temperature Changes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Body temperature changes ClinVar PMID:25741868 PMID:33217309 NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
JBrowse link
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY ClinVar
OMIM
PMID:31827280 PMID:31827281 NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
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 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
ClinVar Annotator: match by OMIM:142680
OMIM
ClinVar
PMID:1402641 PMID:6635178 PMID:7156325 PMID:9529351 PMID:9536098 PMID:9585614 PMID:10199409 PMID:10902757 PMID:11175303 PMID:11443543 PMID:11722598 PMID:11817598 PMID:12209523 PMID:12352631 PMID:12520003 PMID:12905494 PMID:13130484 PMID:14610673 PMID:15216558 PMID:15280569 PMID:15492850 PMID:16508982 PMID:16635178 PMID:16684962 PMID:17576681 PMID:18180277 PMID:18408954 PMID:18512793 PMID:19917181 PMID:20576331 PMID:21029567 PMID:21420073 PMID:22311714 PMID:22801493 PMID:22918594 PMID:23117241 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24064022 PMID:24393624 PMID:25326637 PMID:25387410 PMID:25640679 PMID:25741868 PMID:25936627 PMID:26598380 PMID:27332769 PMID:28166811 PMID:28427379 PMID:28492532 PMID:28814775 PMID:29047407 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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 1:219,468,866...219,472,445
Ensembl chr 1:219,468,675...219,472,654
JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:20,675,042...20,686,365
Ensembl chr16:20,675,042...20,686,317
JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
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:17436251 PMID:17436252 PMID:19012339 PMID:25326637 PMID:25741868 PMID:26752647 NCBI chr16:20,675,042...20,686,365
Ensembl chr16:20,675,042...20,686,317
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 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
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 1:219,468,866...219,472,445
Ensembl chr 1:219,468,675...219,472,654
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
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:27392078 PMID:29074562 PMID:30300710 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 8
ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
ClinVar
OMIM
PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:29314551 PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B OMIM
ClinVar
PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
JBrowse link
G Cbr1 carbonyl reductase 1 IEP mRNA:decreased expression:liver, lung RGD PMID:12399253 RGD:2316279 NCBI chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:27565679 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IDA RGD PMID:15066130 RGD:2307192 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:meninges (rat) RGD PMID:19582783 RGD:2314489 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IMP
ISO
RGD PMID:15066130, PMID:23999490 RGD:2307192, RGD:8552232 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP RGD PMID:19681872 RGD:2314645 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11852909 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9740541 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Drd1 dopamine receptor D1 IEP mRNA:increased expression:brain meninges, brain vasculature (rat) RGD PMID:19582783 RGD:2314489 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Epha3 Eph receptor A3 IEP mRNA, protein:decreased expression:lung, liver RGD PMID:15671251 RGD:1581943 NCBI chr11:421,253...783,037
Ensembl chr11:421,135...782,954
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:31422080 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
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:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19265175 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase IEP mRNA:decreased expression:liver, lung RGD PMID:12399253 RGD:2316279 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
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 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21990073 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19879056 NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:3091246 PMID:18282668 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
protein:increased expression:hypothalamus
CTD Direct Evidence: marker/mechanism
CTD PMID:9952427 PMID:11852909 PMID:15384034 PMID:22143887 PMID:25164664, PMID:16455768 RGD:1626671 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist IDA
ISO
CTD Direct Evidence: therapeutic CTD PMID:16096327, PMID:16455768 RGD:1626671 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8635092 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 IEP
ISO
protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:7537110 PMID:11852909 PMID:15384034, PMID:22042912 RGD:7241096 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25429137 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Fever ClinVar NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9495865 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Pla2g4a phospholipase A2 group IVA IEP protein:increased phosphorylation:lung RGD PMID:16933973 RGD:1642453 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:31422080 PMID:32437895 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO RGD PMID:9751056 RGD:737727 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
JBrowse link
G Ptges prostaglandin E synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25164664 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:25164664, PMID:21741371 RGD:5508203 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11165872 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Star steroidogenic acute regulatory protein IEP protein:decreased expression:testis (rat) RGD PMID:20389168 RGD:4845252 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25429137 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:22042912 RGD:7241096 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28726298 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10379864 PMID:11852909 PMID:15384034 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tph2 tryptophan hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20722968 NCBI chr 7:58,042,279...58,149,220
Ensembl chr 7:58,042,281...58,149,061
JBrowse link
G Vim vimentin IEP protein:increased expression:glial cell RGD PMID:12834255 RGD:1304397 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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 chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 3:146,420,346...146,470,293
Ensembl chr 3:146,420,346...146,470,293
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:increased expression:prostate gland ventral lobe (rat) RGD PMID:25996932 RGD:10402397 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Btk Bruton tyrosine kinase exacerbates ISO Associated with Endotoxemia; with Itk knockout RGD PMID:26581914 RGD:11533169 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 IEP RGD PMID:16469832 RGD:2311385 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14982698 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
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 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IEP RGD PMID:16469832 RGD:2311385 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand IEP associated with Brain Ischemia RGD PMID:18410517 RGD:2311437 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:10464538 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26799708 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
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 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Mdm2 MDM2 proto-oncogene IEP associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) RGD PMID:15777295 RGD:2317393 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:30366073 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24675228 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Prkcd protein kinase C, delta ISO CTD Direct Evidence: therapeutic CTD PMID:30366073 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11731100 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16369138 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
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:16084090 PMID:16917943 PMID:18253926 PMID:18765655 PMID:19191329 PMID:19191333 PMID:20839240 PMID:21062345 PMID:22992668 PMID:23553484 PMID:25741868 PMID:26578207 PMID:27646467 PMID:28492532 PMID:30155738 PMID:30236257 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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 PMID:18564 PMID:1329581 PMID:1354642 PMID:1510267 PMID:1639409 PMID:1743490 PMID:1774073 PMID:1774074 PMID:1862346 PMID:7511586 PMID:7547049 PMID:7554356 PMID:7586638 PMID:7633940 PMID:7751854 PMID:7762556 PMID:7829078 PMID:7849712 PMID:7881417 PMID:7889656 PMID:8012359 PMID:8220423 PMID:8401544 PMID:8592342 PMID:8602662 PMID:8661021 PMID:8825043 PMID:8828983 PMID:8902717 PMID:9030597 PMID:9106529 PMID:9138151 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:10793526 PMID:10888602 PMID:11063719 PMID:11274444 PMID:11448278 PMID:11493496 PMID:11524458 PMID:11525881 PMID:11553045 PMID:11575529 PMID:11668625 PMID:11709545 PMID:11741831 PMID:12059893 PMID:12123492 PMID:12124989 PMID:12136074 PMID:12151923 PMID:12208234 PMID:12220451 PMID:12237752 PMID:12411786 PMID:12411788 PMID:12434264 PMID:12565913 PMID:12642598 PMID:12700608 PMID:12709367 PMID:12732639 PMID:12937085 PMID:14500992 PMID:14732627 PMID:14985404 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15281512 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 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:17081152 PMID:17122579 PMID:17204937 PMID:17226826 PMID:17483490 PMID:17538032 PMID:17576681 PMID:17667581 PMID:17710899 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18502356 PMID:18564801 PMID:18719443 PMID:18813041 PMID:18945287 PMID:19015156 PMID:19020143 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19513315 PMID:19645060 PMID:19648156 PMID:19807743 PMID:19825159 PMID:19919814 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20301325 PMID:20439600 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20981092 PMID:21062345 PMID:21156754 PMID:21157159 PMID:21455645 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21804810 PMID:21825032 PMID:21878807 PMID:21911697 PMID:21918424 PMID:21965348 PMID:22203976 PMID:22415532 PMID:22473935 PMID:22526018 PMID:22705209 PMID:22734812 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23069638 PMID:23127960 PMID:23159934 PMID:23183335 PMID:23204524 PMID:23329375 PMID:23394784 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24013571 PMID:24033266 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:25084811 PMID:25214167 PMID:25256590 PMID:25268394 PMID:25326635 PMID:25461839 PMID:25466363 PMID:25476234 PMID:25521991 PMID:25558065 PMID:25611019 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26019235 PMID:26068069 PMID:26332594 PMID:26467025 PMID:26578207 PMID:26633545 PMID:26951757 PMID:26994242 PMID:27005958 PMID:27058611 PMID:27147545 PMID:27153395 PMID:27382027 PMID:27555149 PMID:27586648 PMID:27646467 PMID:27663056 PMID:27854218 PMID:27857962 PMID:28063098 PMID:28166811 PMID:28224104 PMID:28259615 PMID:28326467 PMID:28403410 PMID:28492532 PMID:28527222 PMID:28687594 PMID:28818389 PMID:29101530 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29382405 PMID:29608462 PMID:29635721 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30325262 PMID:30499100 PMID:30611313 PMID:30724636 PMID:30788618 PMID:31016048 PMID:31055738 PMID:31135626 PMID:31559918 PMID:31680349 PMID:32054689 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
malignant hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO DNA,protein:missense mutation:cds:p.R1086H (human)
ClinVar Annotator: match by term: Malignant hyperpyrexia
ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5
ClinVar Annotator: match by term: Malignant hyperthermia susceptibility
ClinVar Annotator: match by term: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1982519 PMID:9536098 PMID:11260227 PMID:17576681 PMID:19825159 PMID:20861472 PMID:22547813 PMID:22992668 PMID:23662824 PMID:24033266 PMID:24055113 PMID:24195946 PMID:24784157 PMID:25132214 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27147545 PMID:28011884 PMID:28012042 PMID:28166811 PMID:28326467 PMID:28492532 PMID:29193480 PMID:29212769, PMID:9199552 RGD:1300373 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 ISO RGD PMID:8395940 RGD:734675 NCBI chr10:95,921,479...95,934,170
Ensembl chr10:95,921,174...95,934,345
JBrowse link
G Ryr1 ryanodine receptor 1 susceptibility ISO ClinVar Annotator: match by term: Malignant hyperthermia
ClinVar Annotator: match by term: Malignant hyperpyrexia
ClinVar Annotator: match by term: Hyperpyrexia, malignant
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: HYPERTHERMIA OF ANESTHESIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant hyperthermia and exertional rhabdomyolosis
ClinVar
CTD
OMIM
PMID:18564 PMID:1329581 PMID:1354642 PMID:1510267 PMID:1639409 PMID:1743490 PMID:1774073 PMID:1774074 PMID:1862346 PMID:7511586 PMID:7547049 PMID:7554356 PMID:7586638 PMID:7633940 PMID:7751854 PMID:7762556 PMID:7829078 PMID:7849712 PMID:7881417 PMID:7889656 PMID:8012359 PMID:8220423 PMID:8401544 PMID:8592342 PMID:8602662 PMID:8661021 PMID:8825043 PMID:8828983 PMID:8902717 PMID:9030597 PMID:9106529 PMID:9138151 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:10793526 PMID:10888602 PMID:11063719 PMID:11274444 PMID:11448278 PMID:11493496 PMID:11524458 PMID:11525881 PMID:11553045 PMID:11575529 PMID:11668625 PMID:11695996 PMID:11709545 PMID:11741831 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:12565913 PMID:12642598 PMID:12700608 PMID:12709367 PMID:12732639 PMID:12937085 PMID:14500992 PMID:14570802 PMID:14708096 PMID:14732627 PMID:14985404 PMID:14999498 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15281512 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 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:17081152 PMID:17122579 PMID:17204937 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17538032 PMID:17576681 PMID:17667581 PMID:17707769 PMID:17710899 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18502356 PMID:18564801 PMID:18719443 PMID:18813041 PMID:18945287 PMID:19015156 PMID:19020143 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19513315 PMID:19645060 PMID:19648156 PMID:19807743 PMID:19825159 PMID:19919814 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20301325 PMID:20439600 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20981092 PMID:21062345 PMID:21156754 PMID:21157159 PMID:21455645 PMID:21485675 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21804810 PMID:21825032 PMID:21878807 PMID:21911697 PMID:21918424 PMID:21965348 PMID:22203976 PMID:22415532 PMID:22473935 PMID:22526018 PMID:22705209 PMID:22734812 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23069638 PMID:23127960 PMID:23159934 PMID:23183335 PMID:23204524 PMID:23329375 PMID:23394784 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24013571 PMID:24033266 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:25084811 PMID:25214167 PMID:25256590 PMID:25268394 PMID:25326635 PMID:25356970 PMID:25461839 PMID:25466363 PMID:25476234 PMID:25521991 PMID:25558065 PMID:25611019 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25989378 PMID:26019235 PMID:26068069 PMID:26332594 PMID:26467025 PMID:26578207 PMID:26633545 PMID:26951757 PMID:26994242 PMID:27005958 PMID:27058611 PMID:27147545 PMID:27153395 PMID:27382027 PMID:27555149 PMID:27586648 PMID:27646467 PMID:27663056 PMID:27854218 PMID:27857962 PMID:28063098 PMID:28166811 PMID:28224104 PMID:28259615 PMID:28326467 PMID:28403410 PMID:28492532 PMID:28527222 PMID:28687594 PMID:28818389 PMID:29101530 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29382405 PMID:29608462 PMID:29635721 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30325262 PMID:30329129 PMID:30499100 PMID:30611313 PMID:30724636 PMID:30788618 PMID:31016048 PMID:31055738 PMID:31135626 PMID:31559918 PMID:31680349 PMID:32054689 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
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:16084090 PMID:16163667 PMID:16732084 PMID:16917943 PMID:18253926 PMID:18414213 PMID:19191329 PMID:20839240 PMID:20981092 PMID:21455645 PMID:22913516 PMID:22995991 PMID:23204524 PMID:23329375 PMID:23558838 PMID:24195946 PMID:25735680 PMID:25741868 PMID:25957634 PMID:26467025 PMID:27153395 PMID:28492532 PMID:30611313 PMID:30724636 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
multiple pterygium syndrome 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
ISS
ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150
ClinVar
MouseDO
PMID:25741868 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO
ISS
ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150
ClinVar
MouseDO
PMID:25741868 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Pterygium universale
ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
ClinVar Annotator: match by term: Multiple pterygium syndrome Escobar type
ClinVar Annotator: match by OMIM:265000
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15704180 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:25326635 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:31680349 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Myh3 myosin heavy chain 3 ISS OMIM:178110 | OMIM:253290 | OMIM:265000 | OMIM:312150 MouseDO NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 PMID:9158151 PMID:9536098 PMID:14719537 PMID:15907919 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22728938 PMID:24121633 PMID:25450229 PMID:25741868 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:29395675 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:25787132 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:29382405 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26752647 PMID:27245440 PMID:28492532 PMID:31680349 NCBI chr 9:94,302,218...94,308,591 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: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266 PMID:25741868 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
ClinVar Annotator: match by term: Native American myopathy
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23736855 PMID:25741868 PMID:28411587 PMID:28492532 PMID:28777491 PMID:30168660 PMID:31219695 NCBI chr 7:70,807,427...70,815,271
Ensembl chr 7:70,807,867...70,815,270
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 OMIM:614674 OMIM
ClinVar
PMID:21990073 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Pathological Conditions, Signs and Symptoms 9933
      Signs and Symptoms 6382
        Body Temperature Changes 92
          Fever + 58
          Hyperthermia + 11
          Hypothermia + 25
paths to the root