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: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		disease 0.800 strong 0.977 36 7 2000 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria 		disease 0.800 None 1.000 28 2 2001 2017
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		disease 0.500 None 0.989 76 7 2001 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease 0.400 None 1.000 20 4 2002 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease 0.400 None 1.000 17 1 2010 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease 0.400 strong 1.000 17 0 2004 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		disease 0.330 None 1.000 3 0 2016 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		group 0.330 strong 1.000 3 0 2004 2009
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		disease 0.310 None 1.000 1 1 2016 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0702166
Disease: Acne
Acne 		disease 0.310 None 1.000 1 1 2016 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group 0.200 None 1.000 17 0 2010 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		disease 0.200 None 1.000 13 0 2006 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0003864
Disease: Arthritis
Arthritis 		disease 0.200 None 1.000 11 0 2007 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 9 2 2008 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0042109
Disease: Urticaria
Urticaria 		disease 0.160 None 1.000 4 0 2002 2016
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.130 None 1.000 3 0 2018 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.130 None 1.000 3 1 2017 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype 0.120 None 1.000 2 0 2002 2004
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype 0.120 None 1.000 2 0 2016 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		disease 0.120 None 0.500 2 2 2016 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease 0.120 None 1.000 2 0 2018 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None < 0.001 1 1 2019 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0042164
Disease: Uveitis
Uveitis 		disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.110 None 1.000 1 0 2017 2017