Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3569
Gene Symbol: IL6
IL6 		interleukin 6 0.248 0.962 0.32
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.700 None 0.966 0 0 1995 2020
Entrez Id: 6774
Gene Symbol: STAT3
STAT3 		signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.410 None 1.000 0 0 2014 2018
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A 		5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.410 None 1.000 0 0 2012 2012
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.200 None 1.000 0 0 2000 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10 		interleukin 10 0.281 0.923 5.9E-03
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.200 None 1.000 0 0 2009 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.200 None 0.957 0 0 1998 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.190 None 1.000 0 0 2008 2019
Entrez Id: 596
Gene Symbol: BCL2
BCL2 		BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.180 None 0.875 0 0 1999 2018
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.160 None 1.000 0 0 2000 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.160 None 1.000 0 0 2009 2019
Entrez Id: 7099
Gene Symbol: TLR4
TLR4 		toll like receptor 4 0.321 0.962 4.6E-09
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.130 None 1.000 0 0 2014 2019
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1 		major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.130 None 0.667 0 0 2005 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.130 None 0.667 0 0 2003 2019
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B 		major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2009 2019
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4 		cytotoxic T-lymphocyte associated protein 4 0.369 0.923 0.94
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2019 2019
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2005 2014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		prion protein 0.445 0.923 6.3E-04
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2018 2018
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2016 2018
Entrez Id: 1896
Gene Symbol: EDA
EDA 		ectodysplasin A 0.553 0.808 0.97
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2018 2019
Entrez Id: 551
Gene Symbol: AVP
AVP 		arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2018 2019
Entrez Id: 331
Gene Symbol: XIAP
XIAP 		X-linked inhibitor of apoptosis 0.447 0.808 0.92
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2005 2011
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13 		ADAM metallopeptidase with thrombospondin type 1 motif 13 0.496 0.769 5.1E-15
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2004 2014
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2016 2018
Entrez Id: 3075
Gene Symbol: CFH
CFH 		complement factor H 0.441 0.885 0.86
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.120 None 1.000 0 0 2008 2011
Entrez Id: 613
Gene Symbol: BCR
BCR 		BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.110 None 1.000 0 0 2017 2017