PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840560
Disease: Hidradenitis suppurativa, familial
Hidradenitis suppurativa, familial
0.310 GeneticVariation disease BEFREE PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. 24101600 2014
CUI: C1840560
Disease: Hidradenitis suppurativa, familial
Hidradenitis suppurativa, familial
0.310 Biomarker disease CTD_human Gamma-secretase gene mutations in familial acne inversa. 20929727 2010