Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310747
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		0.700 Biomarker disease CTD_human
CUI: C4310747
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		0.700 CausalMutation disease CLINVAR
CUI: C4310747
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.100 Biomarker disease HPO
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		0.100 Biomarker phenotype HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.100 Biomarker disease HPO
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		0.010 AlteredExpression disease BEFREE Furthermore, no differences in BAR mRNA expression were observed between myocardium subjected to mitral stenosis as compared to normal myocardium. 1666018 1991
CUI: C0264766
Disease: Rheumatic mitral stenosis
Rheumatic mitral stenosis 		0.010 AlteredExpression disease BEFREE Furthermore, no differences in BAR mRNA expression were observed between myocardium subjected to mitral stenosis as compared to normal myocardium. 1666018 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.020 Biomarker disease BEFREE The FXR proteins are associated with 60S ribosomal subunits even in cells that lack FMR1 and that are derived from a fragile X syndrome patient, indicating that FMR1 is not required for this association. 8668200 1996
CUI: C0028754
Disease: Obesity
Obesity 		0.270 GeneticVariation disease BEFREE We examined the prevalence of the two 3-BAR alleles in Germany and looked for associations between 3-BAR genotype and metabolic disorders (obesity and type 2 diabetes mellitus). 9709965 1998
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 GeneticVariation disease BEFREE We examined the prevalence of the two 3-BAR alleles in Germany and looked for associations between 3-BAR genotype and metabolic disorders (obesity and type 2 diabetes mellitus). 9709965 1998
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.050 GeneticVariation group BEFREE We examined the prevalence of the two 3-BAR alleles in Germany and looked for associations between 3-BAR genotype and metabolic disorders (obesity and type 2 diabetes mellitus). 9709965 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.530 Biomarker disease MGD Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. 11030617 2000
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.520 Biomarker group MGD Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. 11030617 2000
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.520 Biomarker disease MGD Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. 11030617 2000
CUI: C0028754
Disease: Obesity
Obesity 		0.270 GeneticVariation disease BEFREE In conclusion, the present study failed to demonstrate an additive or synergistic effect of the Trp/Arg64 variant of the BAR gene and the -3826 A-->G variant of the UCP1 gene on the development of obesity and insulin resistance among randomly recruited Danish Caucasian subjects. 10999801 2000
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.210 Biomarker disease MGD Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. 11030617 2000
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		0.200 Biomarker disease MGD Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis. 11030617 2000