ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: MT-ATP6-related mitochondrial spastic paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4755299
Disease: MT-ATP6-related mitochondrial spastic paraplegia
MT-ATP6-related mitochondrial spastic paraplegia 		0.300 GermlineCausalMutation disease ORPHANET Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. 20656066 2011