SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Complete Trisomy 21 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 Biomarker disease BEFREE Alpha-1-antitrypsin protease inhibitor (Pi) phenotypes in Down's syndrome patients and their parents. 6461441 1982
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 Biomarker disease BEFREE Assessment of the alpha 1-antitrypsin/alpha 1-protease inhibitor (PI) types in these DS children revealed a significantly higher value of non-M PI variants (P less than 0.05). 6460570 1981
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 Biomarker disease BEFREE alpha 1-Antitrypsin quantitative and qualitative (Pi phenotyping) characterization in Down syndrome subjects and in their parents. 6446238 1980
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.040 Biomarker disease BEFREE Since the majority of the patients had a normal alpha-1-antitrypsin phenotype, the results of this study indicate that a deficiency in alpha-1-antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome. 135662 1976