| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | Biomarker | disease | BEFREE | TMEM70 absence causes severe ATP-synthase deficiency and leads to a neonatal mitochondrial encephalocardiomyopathy in humans. | 31652072 | 2019 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. | 26550569 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in the TMEM70 are the most common cause of nuclear ATP synthase deficiency resulting in a distinctive phenotype characterized by severe neonatal hypotonia, hypertrophic cardiomyopathy (HCMP), facial dysmorphism, severe lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria (3-MGA). | 24485043 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in the TMEM70 gene are the most common cause of nuclear encoded ATP synthase deficiency resulting in a syndrome characterized by neonatal lactic acidosis, cardiomyopathy, and encephalomyopathy. | 23235116 | 2013 | ||||
|
0.080 | Biomarker | disease | BEFREE | TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. | 22986587 | 2012 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The study identifies TMEM70 gene defect as a pan-ethnic disorder and further redefines it as the most common cause of nuclear-origin ATP synthase deficiency. | 21147908 | 2011 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. | 20335238 | 2010 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. | 18953340 | 2008 |