SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: AICARDI-GOUTIERES SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.010 Biomarker disease BEFREE Notch expression was altered in disease, with distinct differences in AGS from extrahepatic biliary atresia (EHBA) and alpha1-anti-trypsin deficiency (alpha1AT). 15307138 2004