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 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
CUI: C1843116
Disease: Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 1 		0.700 Biomarker disease GENOMICS_ENGLAND The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. 11067870 2000
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: 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: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
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