Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310727
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 		0.600 GeneticVariation disease UNIPROT Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. 25066056 2014
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 GeneticVariation disease BEFREE Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis. 31656175 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis. 31656175 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Our findings indicate that dosage alteration in particular, of NUS1, EST AI858607, or SLC35F1 are important contributors to the neurodevelopmental phenotype associated with 6q22 deletion, including epilepsy and tremors. 24824130 2015
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.010 GeneticVariation disease BEFREE Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report. 31656175 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 GeneticVariation disease BEFREE These results suggested that NUS1 mutation may not be a common genetic factor for Chinese patients with sporadic PD. 31582230 2020
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 GeneticVariation group BEFREE Reverse transcription quantitative polymerase chain reaction assay and Western blot analysis were carried out for the assessment of NgBR, factors correlated to ICAM-1, including steroid receptor coactivator (SRC) and proline-rich tyrosine kinase2 (PYK2), and factors associated with apoptosis, including B-cell lymphoma-2 (Bcl-2), Bcl-2 associated protein X (Bax), caspase 3 and cleaved-caspase 3. 31442237 2019
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.010 GeneticVariation group 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
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		0.010 GeneticVariation phenotype BEFREE Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis. 31656175 2019
CUI: C4310727
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 		0.600 Biomarker disease CTD_human
CUI: C4310727
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 		0.600 Biomarker disease GENOMICS_ENGLAND Coding mutations in NUS1 contribute to Parkinson's disease. 30348779 2018
CUI: C4310727
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4310727
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 		0.600 Biomarker disease GENOMICS_ENGLAND Coding mutations in NUS1 contribute to Parkinson's disease. 30348779 2018
CUI: C4693371
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES 		0.400 Biomarker disease GENOMICS_ENGLAND Coding mutations in NUS1 contribute to Parkinson's disease. 30348779 2018
CUI: C4693371
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES 		0.400 Biomarker disease GENOMICS_ENGLAND Coding mutations in NUS1 contribute to Parkinson's disease. 30348779 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.300 Biomarker disease CTD_human Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.300 Biomarker phenotype GENOMICS_ENGLAND Coding mutations in NUS1 contribute to Parkinson's disease. 30348779 2018
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.300 Biomarker phenotype GENOMICS_ENGLAND Coding mutations in NUS1 contribute to Parkinson's disease. 30348779 2018
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO