Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 CausalMutation disease CLINVAR
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 Biomarker disease CTD_human
CUI: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.300 Biomarker disease CTD_human
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.100 Biomarker group HPO
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.100 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.100 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0027613
Disease: Neonatal hepatitis
Neonatal hepatitis 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.100 Biomarker disease HPO
CUI: C0033774
Disease: Pruritus
Pruritus 		0.100 Biomarker phenotype HPO
CUI: C0035579
Disease: Rickets
Rickets 		0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		0.100 Biomarker phenotype HPO
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.100 Biomarker disease HPO
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.100 Biomarker disease HPO
CUI: C0232720
Disease: Pale feces (finding)
Pale feces (finding) 		0.100 Biomarker phenotype HPO
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality 		0.100 Biomarker phenotype HPO