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: Fever
Accession: DOID:9000972
browse the term
Definition: An abnormal elevation of body temperature, usually as a result of a pathologic process.
Synonyms: exact_synonym: Fevers; Hyperthermia; Hyperthermias; Pyrexia; Pyrexias
narrow_synonym: EPISODIC FEVER
primary_id: MESH:D005334
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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
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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 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
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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
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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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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:31827280 PMID:31827281
NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
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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
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 PMID:9585614 PMID:10199409 PMID:10902757 PMID:11175303 PMID:11239851 PMID:11443543 PMID:11700162 PMID:11722598 PMID:11817598 PMID:12209523 PMID:12352631 PMID:12520003 PMID:12905494 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:18086728 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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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
CTD ClinVar
PMID:20186812 PMID:25741868
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:24488861 PMID:25326637 PMID:25741868 PMID:25741914 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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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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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
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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
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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
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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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