CASP3, caspase 3, 836

N. diseases: 819; N. variants: 26
Disease: Chronic mountain sickness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		0.010 AlteredExpression disease BEFREE Immunoblot analysis showed an accumulation of the short isoform of OPA1 (S-OPA1) in CMS neurons, which have reduced ATP levels under normoxia and increased lactate dehydrogenase (LDH) release and caspase 3 activation after hypoxia. 29357502 2018