APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.010 AlteredExpression disease BEFREE Included in these measurements were tyrosinase and microphthalmia transcription factor (MITF) protein levels, cyclic AMP levels, protein kinase A (PKA) activation, and reduced glutathione (GSH) and oxidized glutathione (GSSG) levels. 16394501 2006