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
ISO
RGD
PMID:2460123
RGD:10046042
NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
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ASPG
asparaginase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:2187653
NCBI chr14:104,085,700...104,115,582
Ensembl chr14:104,085,686...104,115,582
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CBR1
carbonyl reductase 1
ISO
mRNA:decreased expression:liver, lung
RGD
PMID:12399253
RGD:2316279
NCBI chr21:36,070,024...36,073,164
Ensembl chr21:36,069,941...36,073,166
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CCK
cholecystokinin
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:27565679
NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
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CCL5
C-C motif chemokine ligand 5
ISO
RGD
PMID:15066130
RGD:2307192
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCN2
cellular communication network factor 2
ISO
mRNA:increased expression:meninges (rat)
RGD
PMID:19582783
RGD:2314489
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:15066130 PMID:23999490
RGD:2307192 , RGD:8552232
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CNR1
cannabinoid receptor 1
ISO
RGD
PMID:19681872
RGD:2314645
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
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CRH
corticotropin releasing hormone
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11852909
NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
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CSF3
colony stimulating factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9740541
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11852909
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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DRD1
dopamine receptor D1
ISO
mRNA:increased expression:brain meninges, brain vasculature (rat)
RGD
PMID:19582783
RGD:2314489
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
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EPHA3
EPH receptor A3
ISO
mRNA, protein:decreased expression:lung, liver
RGD
PMID:15671251
RGD:1581943
NCBI chr 3:89,107,621...89,482,134
Ensembl chr 3:89,107,621...89,482,134
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EPHX1
epoxide hydrolase 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:31422080
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
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FSHB
follicle stimulating hormone subunit beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
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G6PD
glucose-6-phosphate dehydrogenase
IAGP
associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human)
RGD
PMID:24934404
RGD:10449114
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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GSTT1
glutathione S-transferase theta 1
treatment
IAGP
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD
PMID:20303013
RGD:10450835
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HMGB1
high mobility group box 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19265175
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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HMOX1
heme oxygenase 1
ISO
protein:increased expression:glial cell
RGD
PMID:12834255
RGD:1304397
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HPGD
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:liver, lung
RGD
PMID:12399253
RGD:2316279
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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HSF1
heat shock transcription factor 1
ISO
associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat)
RGD
PMID:22427437
RGD:10402781
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
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HSPB1
heat shock protein family B (small) member 1
ISO
protein:increased expression:glial cell
RGD
PMID:12834255
RGD:1304397
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
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HTR1A
5-hydroxytryptamine receptor 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21990073
NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
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HTR2A
5-hydroxytryptamine receptor 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19879056
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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IFNA2
interferon alpha 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8026229 PMID:8759893
NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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IFNG
interferon gamma
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:3091246 PMID:18282668
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL1A
interleukin 1 alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15384034
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B
interleukin 1 beta
ISO EXP
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 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
ISO EXP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16096327 PMID:16455768
RGD:1626671
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2
interleukin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8635092
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL6
interleukin 6
ISO EXP
protein:increased expression:plasma (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7537110 PMID:11852909 PMID:15384034 PMID:22042912
RGD:7241096
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6R
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25429137
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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LOC126862264
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521
IAGP
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 chr16:3,243,322...3,244,521
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MEFV
MEFV innate immunity regulator, pyrin
IAGP
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 chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MVK
mevalonate kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10369261
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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NLRP3
NLR family pyrin domain containing 3
IAGP
ClinVar Annotator: match by term: Fever
ClinVar
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108
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NOS1
nitric oxide synthase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9495865
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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PLA2G4A
phospholipase A2 group IVA
ISO
protein:increased phosphorylation:lung
RGD
PMID:16933973
RGD:1642453
NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981
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PLCG2
phospholipase C gamma 2
IAGP
ClinVar Annotator: match by term: Episodic fever
ClinVar
NCBI chr16:81,779,291...81,962,685
Ensembl chr16:81,779,279...81,962,685
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POMC
proopiomelanocortin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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PRKCD
protein kinase C delta
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:31422080 PMID:32437895
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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PRL
prolactin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6350720
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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PTGER3
prostaglandin E receptor 3
ISO
RGD
PMID:9751056
RGD:737727
NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816
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PTGES
prostaglandin E synthase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25164664
NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25164664 PMID:21741371
RGD:5508203
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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SERPINE1
serpin family E member 1
susceptibility
IAGP
associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human):
RGD
PMID:23052617
RGD:13207414
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11165872
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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STAR
steroidogenic acute regulatory protein
ISO
protein:decreased expression:testis (rat)
RGD
PMID:20389168
RGD:4845252
NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992
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STAT3
signal transducer and activator of transcription 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25429137
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TLR2
toll like receptor 2
ISO
RGD
PMID:22042912
RGD:7241096
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
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TLR3
toll like receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28726298
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10379864 PMID:11852909 PMID:15384034
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
susceptibility
IAGP EXP
autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11175303 PMID:10902757
RGD:1624177
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TPH2
tryptophan hydroxylase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20722968
NCBI chr12:71,938,845...72,032,440
Ensembl chr12:71,938,845...72,186,618
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TSC2
TSC complex subunit 2
IAGP
ClinVar Annotator: match by term: Episodic fever
ClinVar
PMID:28492532
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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VIM
vimentin
ISO
protein:increased expression:glial cell
RGD
PMID:12834255
RGD:1304397
NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
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RIPK1
receptor interacting serine/threonine kinase 1
IAGP
ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:31827280 PMID:31827281
NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
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LOC130007232
ATAC-STARR-seq lymphoblastoid active region 5847
IAGP
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:6,330,238...6,330,367
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LOC130007233
ATAC-STARR-seq lymphoblastoid active region 5850
IAGP
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
ClinVar
PMID:25741868
NCBI chr12:6,341,879...6,341,978
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SCNN1A
sodium channel epithelial 1 subunit alpha
IAGP
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
ClinVar
PMID:25741868
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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TNFRSF1A
TNF receptor superfamily member 1A
IAGP ISS EXP
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) 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 Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD
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 chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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CLCF1
cardiotrophin like cytokine factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
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CRLF1
cytokine receptor like factor 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome
CTD ClinVar
PMID:20186812 PMID:25741868
NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
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KLHL7
kelch like family member 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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CRLF1
cytokine receptor like factor 1
IAGP
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 chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
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KLHL7
kelch like family member 7
IAGP
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
ClinVar
PMID:25741868 PMID:27392078
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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LOC112543470
Sharpr-MPRA regulatory region 11645
IAGP
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
ClinVar
PMID:19012339 PMID:24488861 PMID:25741868
NCBI chr19:18,596,719...18,597,013
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LOC130064021
ATAC-STARR-seq lymphoblastoid silent region 10411
IAGP
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
ClinVar
PMID:12509788 PMID:17436252 PMID:21370513
NCBI chr19:18,594,301...18,594,690
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CLCF1
cardiotrophin like cytokine factor 1
IAGP
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2
OMIM ClinVar
PMID:16782820 PMID:20400119 PMID:25741868
NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
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LOC100130987
uncharacterized LOC100130987
IAGP
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2
ClinVar
PMID:16782820 PMID:20400119 PMID:25741868
NCBI chr11:67,317,839...67,391,687
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KLHL7
kelch like family member 7
IAGP
ClinVar Annotator: match by term: KLHL7-related condition ClinVar Annotator: match by term: PERCHING syndrome ClinVar Annotator: match by term: Cold-induced sweating syndrome 3
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 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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CRP
C-reactive protein
IEP
RGD
PMID:7506886
RGD:9491382
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CEBPE
CCAAT enhancer binding protein epsilon
IAGP
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 chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
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HTR1A
5-hydroxytryptamine receptor 1A
IAGP EXP
ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:21990073 PMID:25741868
NCBI chr 5:63,957,874...63,962,445
Ensembl chr 5:63,957,874...63,962,507
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NOD2
nucleotide binding oligomerization domain containing 2
IAGP
DNA:mutations:cds
RGD
PMID:21914217
RGD:13204855
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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TRNT1
tRNA nucleotidyl transferase 1
IAGP
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 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435
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