PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: CONSTRICTING BANDS, CONGENITAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		0.010 GeneticVariation disease BEFREE WT enzyme was green, due to air-stable FMN semiquinone (blue) and oxidized FAD (yellow).The ABS mutant V492E was blue-gray. 16998238 2006