Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.100 Biomarker disease HPO
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1855106
Disease: Neonatal onset
Neonatal onset 		0.100 Biomarker phenotype HPO
CUI: C1859162
Disease: Neonatal cholestatic liver disease
Neonatal cholestatic liver disease 		0.100 Biomarker phenotype HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2675627
Disease: Acholic stool
Acholic stool 		0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.100 Biomarker group HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C2931067
Disease: Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic 4 		0.300 Biomarker disease CTD_human
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. 12679481 2003
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 GeneticVariation disease UNIPROT Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. 12679481 2003
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 GermlineCausalMutation disease ORPHANET Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. 12679481 2003
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 GeneticVariation disease UNIPROT The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. 11067870 2000