Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.010 GeneticVariation disease BEFREE However, RRF and lactic acidosis are absent in Leber hereditary optic neuropathy (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, seizures, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene). 8338207 1993