MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Pyoderma Gangrenosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		0.320 GeneticVariation disease BEFREE Cases of PG and PASH showed mutations in the autoinflammatory genes MEFV, NLRP3, NLRP12, NOD2, LPIN2 and PSTPIP1. 27943240 2017
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		0.320 Biomarker disease CTD_human Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 27106250 2016
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		0.320 Biomarker disease BEFREE PSTPIP1, mutated in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne, interacts both with pyrin and a protein tyrosine phosphatase to regulate innate and adaptive immune responses. 16724804 2006