Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
MT-ND5 gene
|
gptkbp:associatedWith |
gptkb:Leigh_syndrome
gptkb:MELAS_syndrome mitochondrial complex I deficiency mitochondrial diseases |
gptkbp:canBe |
missense mutation
nonsense mutation deletion mutation |
gptkbp:cause |
muscle weakness
neurological symptoms lactic acidosis |
https://www.w3.org/2000/01/rdf-schema#label |
MT-ND5 gene mutation
|
gptkbp:impact |
NADH dehydrogenase 5 protein
|
gptkbp:inheritance |
maternal
|
gptkbp:location |
gptkb:mitochondrial_DNA
|
gptkbp:bfsParent |
gptkb:MELAS_syndrome
|
gptkbp:bfsLayer |
7
|