Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54995
Gene Symbol: OXSM
OXSM
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. 27388694

2017
Entrez Id: 54995
Gene Symbol: OXSM
OXSM
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 24651605

2014
Entrez Id: 54995
Gene Symbol: OXSM
OXSM
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2012
Entrez Id: 54995
Gene Symbol: OXSM
OXSM
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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