Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.160 GeneticVariation disease BEFREE In summary, these findings provide important supplementary information about the association between NR1H3 variants and MS risk. 29801879 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.160 GeneticVariation disease BEFREE A recent study by Wang et al.(2016a) claims that the low-frequency variant NR1H3 p.Arg415Gln is sufficient to cause multiple sclerosis in certain individuals and determines a patient's likelihood of primary progressive disease. 27764667 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.160 GeneticVariation disease BEFREE A mutation in a nuclear receptor (NR1H3) gene was detected in a familial, progressive form of multiple sclerosis (PPMS). 27253441 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.160 AlteredExpression disease BEFREE Our study indicates that pharmacological activation of LXRA or its targets may lead to effective treatments for the highly debilitating and currently untreatable progressive phase of MS. 27253448 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.160 GeneticVariation disease BEFREE Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis. 27764668 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.160 CausalMutation disease CLINVAR Nuclear Receptor NR1H3 in Familial Multiple Sclerosis. 27253448 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.160 GeneticVariation disease BEFREE We recently published a study proposing a rare variant in the NR1H3 gene (rs61731956" genes_norm="10062">p.R415Q, rs61731956) as responsible for the onset of multiple sclerosis (MS) in two multi-incident families (Wang et al., 2016). 27764669 2016