TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Penile hypospadias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 GeneticVariation disease BEFREE ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria. 20335238 2010