CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Coding mutations in NUS1 contribute to Parkinson's disease.
|
30348779 |
2018 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Coding mutations in NUS1 contribute to Parkinson's disease.
|
30348779 |
2018 |
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 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Coding mutations in NUS1 contribute to Parkinson's disease.
|
30348779 |
2018 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Coding mutations in NUS1 contribute to Parkinson's disease.
|
30348779 |
2018 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
Extrapyramidal sign
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Coding mutations in NUS1 contribute to Parkinson's disease.
|
30348779 |
2018 |
Extrapyramidal sign
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Coding mutations in NUS1 contribute to Parkinson's disease.
|
30348779 |
2018 |
melanoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation.
|
22535842 |
2012 |
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 |
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 |
Scoliosis, unspecified
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Epileptic encephalopathy
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Autistic Disorder
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Blepharoptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dyskinetic syndrome
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fetal Growth Retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Gastroesophageal reflux disease
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|