ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Congenital Disorders of Glycosylation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.010 AlteredExpression group BEFREE Further investigation revealed low levels of the glycoproteins AT III and clotting factor XI, leading to a diagnosis of congenital disorder of glycosylation (CDG) type II. 19067230 2008