TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Carbamoyl Phosphate Synthase 1 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085580
Disease: Carbamoyl Phosphate Synthase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency 		0.010 Biomarker disease BEFREE The cause of hyperammonemia in TMEM70 deficiency was previously assumed to be related to carbamoyl phosphate synthase 1 deficiency, but our finding of hypercitrullinemia rules out this possibility. 30950220 2019