Gene: NUBPL ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 Biomarker disease GENOMICS_ENGLAND NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477 2013
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 GermlineCausalMutation disease ORPHANET NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477 2013
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 GermlineCausalMutation disease ORPHANET Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 GeneticVariation disease BEFREE Using NGS, we recently identified an apparently homozygous missense mutation in NUBPL in a patient with mitochondrial complex I deficiency. 22072591 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 GermlineCausalMutation disease ORPHANET High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 Biomarker disease GENOMICS_ENGLAND