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 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 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 GeneticVariation disease UNIPROT Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. 25066056 2014
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
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: C4693371
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES 		0.400 CausalMutation disease CLINVAR
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: 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: 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: 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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO