rs1799963, F2

N. diseases: 25
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice. 23429074 2013
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability. 21349849 2011
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells. 21243428 2011
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR HFE polymorphisms affect cellular glutamate regulation. 19560233 2011
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 19554541 2009
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. 19159930 2009
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? 11904676 2002
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. 11874997 2002
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? 11358905 2001
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium. 9462220 1997
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. 9106528 1997
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Haemochromatosis and HLA-H. 8896550 1996
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 8696333 1996
THROMBOPHILIA DUE TO THROMBIN DEFECT
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 CausalMutation CLINVAR Can maximum ouabain-sensitive 86Rb+ uptake rate be obtained by increasing Na+ influx? 2429850 1986