Gene: ND1
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: TRNV
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs199476144 in
ND1;TRNV gene and
Leigh Disease
PMID 11799391 2002 Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
PMID 9270602 1997 A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.
rs199476143 in
ND1;TRNV gene and
MELAS Syndrome
PMID 9450773 1998 A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
PMID 12056939 2002 Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
PMID 20064630 2010 Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
PMID 11799391 2002 Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
PMID 17886296 2008 Prevalence of mitochondrial DNA disease in adults.
PMID 18400783 2008 Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.
PMID 25652200 2015 Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.