| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | 29478781 | 2018 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. | 28412374 | 2017 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. | 23599390 | 2013 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. | 20566710 | 2010 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. | 21686774 | 2009 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. | 14757859 | 2004 | ||||
|
0.300 | GeneticVariation | disease | ORPHANET | |||||||
|
0.110 | CausalMutation | disease | CLINVAR | TMEM70 deficiency: long-term outcome of 48 patients. | 25326274 | 2015 | ||||
|
0.110 | CausalMutation | disease | CLINVAR | Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. | 20920610 | 2011 | ||||
|
0.110 | CausalMutation | disease | CLINVAR | Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. | 20335238 | 2010 | ||||
|
0.110 | GeneticVariation | disease | BEFREE | TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. | 18953340 | 2008 | ||||
|
0.110 | CausalMutation | disease | CLINVAR | TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. | 18953340 | 2008 |