KEAP1, kelch like ECH associated protein 1, 9817

N. diseases: 251; N. variants: 4
Disease: Osteitis Deformans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.020 GeneticVariation disease BEFREE The PDB-associated S349T mutation maps to the Keap1-interacting region (KIR) of SQSTM1, however the effects of PDB mutant SQSTM1 on Keap1 function have not been investigated. 23117207 2013
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.020 Biomarker disease BEFREE Additional roles for SQSTM1/p62 in the oxidative stress-induced Keap1/Nrf2 pathway and in caspase-mediated apoptosis that were recently reported are potentially relevant to the pathogenesis of PDB. 23612225 2013