Source: BEFREE

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: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 1.000 None 1.000 38 5 2002 2019
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4 		NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.510 None 1.000 1 0 2017 2017
Entrez Id: 4311
Gene Symbol: MME
MME 		membrane metalloendopeptidase 0.407 0.808 1.5E-18
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.310 None 1.000 1 0 2003 2003
Entrez Id: 3553
Gene Symbol: IL1B
IL1B 		interleukin 1 beta 0.276 0.962 0.13
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.100 None 1.000 17 0 2002 2018
Entrez Id: 3552
Gene Symbol: IL1A
IL1A 		interleukin 1 alpha 0.333 0.962 1.6E-04
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.100 None 1.000 13 0 2002 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.030 None 1.000 3 0 2002 2003
Entrez Id: 834
Gene Symbol: CASP1
CASP1 		caspase 1 0.413 0.885 3.5E-05
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.030 None 1.000 3 0 2004 2011
Entrez Id: 3606
Gene Symbol: IL18
IL18 		interleukin 18 0.365 0.923 3.1E-02
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.020 None 1.000 2 0 2004 2018
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN 		interleukin 1 receptor antagonist 0.373 0.923 3.1E-02
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.020 None 1.000 2 0 2007 2011
Entrez Id: 6120
Gene Symbol: RPE
RPE 		ribulose-5-phosphate-3-epimerase 0.575 0.538 2.5E-04
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 780
Gene Symbol: DDR1
DDR1 		discoidin domain receptor tyrosine kinase 1 0.497 0.808 4.6E-06
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 79792
Gene Symbol: GSDMD
GSDMD 		gasdermin D 0.641 0.692 1.1E-13
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 929
Gene Symbol: CD14
CD14 		CD14 molecule 0.392 0.885 4.9E-05
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 9308
Gene Symbol: CD83
CD83 		CD83 molecule 0.566 0.731 5.2E-03
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7124
Gene Symbol: TNF
TNF 		tumor necrosis factor 0.231 0.962 0.80
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1 		activator of HSP90 ATPase activity 1 0.396 0.923 1.00
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1385
Gene Symbol: CREB1
CREB1 		cAMP responsive element binding protein 1 0.463 0.885 1.00
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1398
Gene Symbol: CRK
CRK 		CRK proto-oncogene, adaptor protein 0.394 0.923 0.96
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1432
Gene Symbol: MAPK14
MAPK14 		mitogen-activated protein kinase 14 0.379 0.923 0.37
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		atrophin 1 0.409 0.885 1.00
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2214
Gene Symbol: FCGR3A
FCGR3A 		Fc fragment of IgG receptor IIIa 0.432 0.962 3.7E-06
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2215
Gene Symbol: FCGR3B
FCGR3B 		Fc fragment of IgG receptor IIIb 0.452 0.962 3.0E-07
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 25897
Gene Symbol: RNF19A
RNF19A 		ring finger protein 19A, RBR E3 ubiquitin protein ligase 0.397 0.923 2.5E-02
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		disease 0.010 None 1.000 1 0 2005 2005