P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.010 GeneticVariation disease BEFREE Tumor necrosis factor receptor 1-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited autoinflammatory disorder resulting from mutations in the TNFRSF1A gene, which encodes the p55 receptor for tumor necrosis factor alpha. 19029521 2008