Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4351
Gene Symbol: MPI
MPI 		0.010 Biomarker disease BEFREE Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption. 24508628 2014
Entrez Id: 80270
Gene Symbol: HSD3B7
HSD3B7 		0.010 GeneticVariation disease BEFREE Thus, we found mutations in the HSD3B7 gene accounting for autosomal recessive neonatal cholestasis caused by 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase/isomerase deficiency. 20531254 2010
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.010 Biomarker disease BEFREE Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. 18809924 2008
Entrez Id: 10682
Gene Symbol: EBP
EBP 		0.010 Biomarker disease BEFREE CDPX2 is a cholesterol biosynthetic disorder due to 3-beta-hydroxysteroid-delta8,delta7-isomerase deficiency caused by mutations in the emopamil binding protein (EBP) gene. 12503101 2003