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 		0.100 GeneticVariation group CLINVAR Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model. 23828044 2013
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477 2013
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477 2013
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model. 23828044 2013
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. 22826544 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. 22826544 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Complex I deficiency: clinical features, biochemistry and molecular genetics. 22972949 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. 22072591 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Complex I deficiency: clinical features, biochemistry and molecular genetics. 22972949 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. 22072591 2012
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR The molecular basis of human complex I deficiency. 21766414 2011
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR The molecular basis of human complex I deficiency. 21766414 2011
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. 19336460 2009
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. 19752196 2009
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. 19336460 2009
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. 19752196 2009
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR The iron-sulphur protein Ind1 is required for effective complex I assembly. 18497740 2008
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR The iron-sulphur protein Ind1 is required for effective complex I assembly. 18497740 2008
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation group CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 GeneticVariation group CLINVAR Minimum birth prevalence of mitochondrial respiratory chain disorders in children. 12805096 2003