SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Holt-Oram syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.010 Biomarker disease BEFREE Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). 6335371 1984