Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR Neurology of the cryopyrin-associated periodic fever syndrome. 26931528

2016
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance. 25730877

2015
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study. 26245507

2015
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR Early detection of sensorineural hearing loss in Muckle-Wells-syndrome. 26531310

2015
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. 23442610

2013
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS). 21356079

2011
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra. 20472245

2010
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR A cryopyrin-associated periodic syndrome with joint destruction. 17178739

2007
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome. 16100350

2005
dbSNP: rs151344629
rs151344629
NLRP3
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		T 0.700 CausalMutation CLINVAR New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 11992256

2002