TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 CausalMutation disease CLINVAR Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. 24485043 2014
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 CausalMutation disease CLINVAR TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 CausalMutation disease CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008