Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80196932
rs80196932
Entrez Id: 116150;101927919
Gene Symbol: NUS1;LOC101927919
NUS1;LOC101927919
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.700 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
dbSNP: rs2498589
rs2498589
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs886037858
rs886037858
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
CUI: C4310727
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 		0.700 GeneticVariation UNIPROT Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. 25066056 2014
dbSNP: rs1554200722
rs1554200722
Entrez Id: 116150;101927919
Gene Symbol: NUS1;LOC101927919
NUS1;LOC101927919
CUI: C4693371
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES 		GCTGCCGCGCCGCCT 0.700 CausalMutation CLINVAR
dbSNP: rs1554202698
rs1554202698
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
CUI: C4693371
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES 		G 0.700 CausalMutation CLINVAR
dbSNP: rs886037858
rs886037858
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
CUI: C0282577
Disease:
Congenital Disorders of Glycosylation 		0.010 GeneticVariation BEFREE Moreover, we describe a family with a congenital disorder of glycosylation caused by a loss of function mutation in the conserved C terminus of NgBR-R290H and show that fibroblasts isolated from patients exhibit reduced dolichol profiles and enhanced accumulation of free cholesterol identically to fibroblasts from mice lacking NgBR. 25066056 2014
dbSNP: rs1052237
rs1052237
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
CUI: C0004364
Disease:
Autoimmune Diseases 		0.010 GeneticVariation BEFREE Given the role of CD247 in the response of the T cells, its entailment in autoimmune diseases and in order to better clarify the role of this gene in RA susceptibility, we aimed to analyze CD247 gene variants previously associated with other autoimmune diseases (rs1052237, rs2056626 and rs864537) in a large independent European Caucasian population. 23861880 2013