Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9051
Gene Symbol: PSTPIP1
PSTPIP1
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.340 Biomarker GENOMICS_ENGLAND Mutations resulting in charge reversal in the y-domain of PSTPIP1 (E→K) and increased interaction with pyrin cause a distinct autoinflammatory disorder defined by clinical and biochemical features not found in patients with PAPA syndrome, indicating a unique genotype-phenotype correlation for mutations in the PSTPIP1 gene. 26025129

2015