Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.010 GeneticVariation disease BEFREE A PTG variant contributes to a milder phenotype in Lafora disease. 21738631 2011
CUI: C0339084
Disease: Floppy lid syndrome
Floppy lid syndrome 		0.010 AlteredExpression disease BEFREE Gene expression array and RT-PCR analysis identified V-CAM1 and PPP1R3C as being upregulated in FES TFs. 20220050 2010
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 GeneticVariation disease BEFREE His 44-year-old brother (deep venous thrombosis [DVT]) and 46-year-old sister (DVT, pulmonary embolus [PE]) were compound FVL-PTG gene heterozygotes. 18796459 2009
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.010 GeneticVariation disease BEFREE His 44-year-old brother (deep venous thrombosis [DVT]) and 46-year-old sister (DVT, pulmonary embolus [PE]) were compound FVL-PTG gene heterozygotes. 18796459 2009
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 GeneticVariation disease BEFREE In a consecutive case series, cross-sectional study of 401 women referred for hyperlipidemia therapy, (110 [27%] on estrogen replacement therapy [ERT]), we assessed whether ERT-mediated thrombophilia and heritable thrombophilia (20210 G-->A prothrombin gene [PTG], Factor V Leiden gene mutation [FV]) interacted as risk factors for atherothrombotic cardiovascular disease (ATCVD). 12037725 2002