TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Severe intellectual disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052056
rs796052056
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C0036857
Disease:
Severe intellectual disability 		CGT 0.700 CausalMutation CLINVAR Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. 24485043 2014
dbSNP: rs796052056
rs796052056
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C0036857
Disease:
Severe intellectual disability 		CGT 0.700 CausalMutation CLINVAR TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908 2011
dbSNP: rs796052056
rs796052056
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C0036857
Disease:
Severe intellectual disability 		CGT 0.700 CausalMutation CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008