Gene: OXSM ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		0.100 CausalMutation disease CLINVAR Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. 27388694 2017
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		0.100 CausalMutation disease CLINVAR Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 24651605 2014
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		0.100 CausalMutation disease CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936 2012
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		0.100 CausalMutation disease CLINVAR Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module. 17088551 2006
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		0.100 CausalMutation disease CLINVAR Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping. 12711318 2003
Entrez Id: 54995
Gene Symbol: OXSM
OXSM 		0.100 CausalMutation disease CLINVAR Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation. 11562482 2001