Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.010 GeneticVariation disease BEFREE Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. 29238877 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE By eluting peptides from human glioblastoma multiforme (GBM) tumor cell surfaces and subjecting them to tandem mass spectrometry, we identified a novel peptide (KLWGLTPKVTPS) corresponding to a frameshift in the 3' beta-hydroxysteroid dehydrogenase type 7 (HSD3B7) gene. 21626031 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 GeneticVariation disease BEFREE By eluting peptides from human glioblastoma multiforme (GBM) tumor cell surfaces and subjecting them to tandem mass spectrometry, we identified a novel peptide (KLWGLTPKVTPS) corresponding to a frameshift in the 3' beta-hydroxysteroid dehydrogenase type 7 (HSD3B7) gene. 21626031 2011
CUI: C1291601
Disease: Deficiency of isomerase
Deficiency of isomerase 		0.010 GeneticVariation disease BEFREE Thus, we found mutations in the HSD3B7 gene accounting for autosomal recessive neonatal cholestasis caused by 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase/isomerase deficiency. 20531254 2010
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 GeneticVariation group BEFREE The possibility that liver disease presenting in the adult may be due to a mutation in the HSD3B7 gene should be considered, especially in cases with familial occurrence of liver disease and earlier periods of liver dysfunction. 17645593 2007
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		0.010 GeneticVariation disease BEFREE We conclude that a diverse spectrum of mutations in the HSD3B7 gene underlies this rare form of neonatal cholestasis. 12679481 2003
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.020 GeneticVariation disease BEFREE Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. 29238877 2018
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		0.020 Biomarker disease BEFREE 3β-Hydroxy-Δ(5)-C27-steroid oxidoreductase (HSD3B7) deficiency, a progressive cholestatic liver disease, is the most common genetic defect in bile acid synthesis. 25931455 2015
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		0.020 Biomarker disease BEFREE The failure of 3β-hydroxy-Δ(5)-cholenoic acids to function as FXR, PXR and CAR agonists and to exert hepatoprotective actions explains the mechanism for progressive cholestatic liver disease in patients with HSD3B7 deficiency. 24954360 2014
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.020 Biomarker disease BEFREE These findings establish the central role of C(27) 3beta-HSD in the biosynthesis of bile acids and provide molecular tools for the diagnosis of a third type of neonatal progressive intrahepatic cholestasis associated with impaired bile acid synthesis. 11067870 2000
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 GeneticVariation disease BEFREE Studies at the genomewide level of Parkinson's disease (PD) suggested a significant association between the Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta isomerase 7 (<i>HSD3B7</i>) gene rs9938550 variant and a decreased risk for PD. 29670816 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease BEFREE Four of the host genes, CTSB, STX1B, IGSF9B, and HSD3B7, had not previously been reported to be associated with PD. 26670097 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 Biomarker disease BEFREE By applying the ICSNPathway analysis to PD GWAS meta-analysis data, three candidate SNPs, two genes (MAPT and HSD3B7), and 21 pathways involving protein domain specific binding and neurogenesis were identified, which may contribute to PD susceptibility. 23238920 2013
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