HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)

Gene

• Entrez ID: 80270
• Gene name: Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
• Gene symbol: HSD3B7
• Synonyms (NCBI Gene): CBAS1, PFIC4, SDR11E3
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894518	G>A	Pathogenic	Coding sequence variant, missense variant
rs139152685	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs143699328	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906288	G>T	Pathogenic	Splice donor variant
rs397514442	CT>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs397514443	->C	Pathogenic	Frameshift variant, coding sequence variant
rs530793570	G>A,C	Pathogenic	Splice donor variant
rs746926891	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 3 prime UTR variant
rs786200876	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205627	T>-	Likely-pathogenic	Splice donor variant, intron variant
rs886043511	T>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1555492659	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567370784	GTAGACGTGTTTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567371518	C>-	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018942	hsa-miR-335-5p	Microarray	18185580
MIRT024008	hsa-miR-1-3p	Microarray	18668037
MIRT457348	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT457347	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT457346	hsa-miR-940	PAR-CLIP	23592263
MIRT457345	hsa-miR-4459	PAR-CLIP	23592263
MIRT457344	hsa-miR-665	PAR-CLIP	23592263
MIRT457343	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT457342	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT457341	hsa-miR-1827	PAR-CLIP	23592263
MIRT457340	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT457339	hsa-miR-6086	PAR-CLIP	23592263
MIRT457338	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457337	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT457336	hsa-miR-1273e	PAR-CLIP	23592263
MIRT457348	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT457347	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT457346	hsa-miR-940	PAR-CLIP	23592263
MIRT457345	hsa-miR-4459	PAR-CLIP	23592263
MIRT457344	hsa-miR-665	PAR-CLIP	23592263
MIRT457343	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT457342	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT457341	hsa-miR-1827	PAR-CLIP	23592263
MIRT457340	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT457339	hsa-miR-6086	PAR-CLIP	23592263
MIRT457338	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457337	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT457336	hsa-miR-1273e	PAR-CLIP	23592263
MIRT1055499	hsa-miR-1	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT1055502	hsa-miR-1225-3p	CLIP-seq
MIRT1055503	hsa-miR-1233	CLIP-seq
MIRT1055504	hsa-miR-1299	CLIP-seq
MIRT1055505	hsa-miR-1301	CLIP-seq
MIRT1055506	hsa-miR-1976	CLIP-seq
MIRT1055507	hsa-miR-206	CLIP-seq
MIRT1055508	hsa-miR-3130-3p	CLIP-seq
MIRT1055509	hsa-miR-3135b	CLIP-seq
MIRT1055510	hsa-miR-3173-5p	CLIP-seq
MIRT1055511	hsa-miR-3174	CLIP-seq
MIRT1055512	hsa-miR-3176	CLIP-seq
MIRT1055513	hsa-miR-3194-3p	CLIP-seq
MIRT1055514	hsa-miR-3199	CLIP-seq
MIRT1055515	hsa-miR-3614-5p	CLIP-seq
MIRT1055516	hsa-miR-3652	CLIP-seq
MIRT1055517	hsa-miR-3673	CLIP-seq
MIRT1055518	hsa-miR-370	CLIP-seq
MIRT1055519	hsa-miR-3914	CLIP-seq
MIRT1055520	hsa-miR-3922-3p	CLIP-seq
MIRT1055521	hsa-miR-3928	CLIP-seq
MIRT1055522	hsa-miR-3934	CLIP-seq
MIRT1055523	hsa-miR-3942-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT1055525	hsa-miR-4293	CLIP-seq
MIRT1055526	hsa-miR-4430	CLIP-seq
MIRT1055527	hsa-miR-4433	CLIP-seq
MIRT1055528	hsa-miR-4505	CLIP-seq
MIRT1055529	hsa-miR-4660	CLIP-seq
MIRT1055530	hsa-miR-4703-5p	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055532	hsa-miR-4740-5p	CLIP-seq
MIRT1055533	hsa-miR-4747-5p	CLIP-seq
MIRT1055534	hsa-miR-4786-5p	CLIP-seq
MIRT1055535	hsa-miR-4793-3p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT1055537	hsa-miR-5047	CLIP-seq
MIRT1055538	hsa-miR-613	CLIP-seq
MIRT1055539	hsa-miR-765	CLIP-seq
MIRT1055540	hsa-miR-769-5p	CLIP-seq
MIRT1055541	hsa-miR-875-3p	CLIP-seq
MIRT1055542	hsa-miR-921	CLIP-seq
MIRT1055499	hsa-miR-1	CLIP-seq
MIRT1055502	hsa-miR-1225-3p	CLIP-seq
MIRT1055503	hsa-miR-1233	CLIP-seq
MIRT1055504	hsa-miR-1299	CLIP-seq
MIRT1055505	hsa-miR-1301	CLIP-seq
MIRT1055507	hsa-miR-206	CLIP-seq
MIRT2012696	hsa-miR-3122	CLIP-seq
MIRT1055509	hsa-miR-3135b	CLIP-seq
MIRT1055513	hsa-miR-3194-3p	CLIP-seq
MIRT1055515	hsa-miR-3614-5p	CLIP-seq
MIRT1055516	hsa-miR-3652	CLIP-seq
MIRT1055517	hsa-miR-3673	CLIP-seq
MIRT2012697	hsa-miR-3689a-3p	CLIP-seq
MIRT2012698	hsa-miR-3689c	CLIP-seq
MIRT2012699	hsa-miR-3913-5p	CLIP-seq
MIRT1055519	hsa-miR-3914	CLIP-seq
MIRT1055521	hsa-miR-3928	CLIP-seq
MIRT2012700	hsa-miR-3929	CLIP-seq
MIRT1055523	hsa-miR-3942-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT1055525	hsa-miR-4293	CLIP-seq
MIRT2012701	hsa-miR-4419b	CLIP-seq
MIRT1055526	hsa-miR-4430	CLIP-seq
MIRT1055527	hsa-miR-4433	CLIP-seq
MIRT2012702	hsa-miR-4478	CLIP-seq
MIRT1055528	hsa-miR-4505	CLIP-seq
MIRT1055529	hsa-miR-4660	CLIP-seq
MIRT2012703	hsa-miR-4695-5p	CLIP-seq
MIRT2012704	hsa-miR-4703-3p	CLIP-seq
MIRT1055530	hsa-miR-4703-5p	CLIP-seq
MIRT2012705	hsa-miR-4721	CLIP-seq
MIRT2012706	hsa-miR-4728-5p	CLIP-seq
MIRT2012707	hsa-miR-4738-5p	CLIP-seq
MIRT1055533	hsa-miR-4747-5p	CLIP-seq
MIRT2012708	hsa-miR-4768-3p	CLIP-seq
MIRT2012709	hsa-miR-485-5p	CLIP-seq
MIRT2012710	hsa-miR-493	CLIP-seq
MIRT1055537	hsa-miR-5047	CLIP-seq
MIRT1055538	hsa-miR-613	CLIP-seq
MIRT1055539	hsa-miR-765	CLIP-seq
MIRT1055541	hsa-miR-875-3p	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT1055502	hsa-miR-1225-3p	CLIP-seq
MIRT2245075	hsa-miR-1228	CLIP-seq
MIRT1055503	hsa-miR-1233	CLIP-seq
MIRT2245076	hsa-miR-1262	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2245078	hsa-miR-342-3p	CLIP-seq
MIRT1055515	hsa-miR-3614-5p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2245080	hsa-miR-3925-3p	CLIP-seq
MIRT2012700	hsa-miR-3929	CLIP-seq
MIRT1055523	hsa-miR-3942-5p	CLIP-seq
MIRT1055525	hsa-miR-4293	CLIP-seq
MIRT2012701	hsa-miR-4419b	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055527	hsa-miR-4433	CLIP-seq
MIRT2012702	hsa-miR-4478	CLIP-seq
MIRT2245082	hsa-miR-451b	CLIP-seq
MIRT2012703	hsa-miR-4695-5p	CLIP-seq
MIRT2245083	hsa-miR-4696	CLIP-seq
MIRT2245084	hsa-miR-4701-3p	CLIP-seq
MIRT1055530	hsa-miR-4703-5p	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT2012708	hsa-miR-4768-3p	CLIP-seq
MIRT1055535	hsa-miR-4793-3p	CLIP-seq
MIRT2012709	hsa-miR-485-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT2245085	hsa-miR-508-5p	CLIP-seq
MIRT2245086	hsa-miR-542-3p	CLIP-seq
MIRT2245087	hsa-miR-610	CLIP-seq
MIRT2245088	hsa-miR-622	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2451413	hsa-miR-3065-5p	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055534	hsa-miR-4786-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT2451417	hsa-miR-548ac	CLIP-seq
MIRT2451418	hsa-miR-548ae	CLIP-seq
MIRT2451419	hsa-miR-548aj	CLIP-seq
MIRT2451420	hsa-miR-548am	CLIP-seq
MIRT2451421	hsa-miR-548d-3p	CLIP-seq
MIRT2451422	hsa-miR-548x	CLIP-seq
MIRT2451423	hsa-miR-548z	CLIP-seq
MIRT2451424	hsa-miR-593	CLIP-seq
MIRT1055540	hsa-miR-769-5p	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2451413	hsa-miR-3065-5p	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055534	hsa-miR-4786-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT2451417	hsa-miR-548ac	CLIP-seq
MIRT2451418	hsa-miR-548ae	CLIP-seq
MIRT2451419	hsa-miR-548aj	CLIP-seq
MIRT2451420	hsa-miR-548am	CLIP-seq
MIRT2451421	hsa-miR-548d-3p	CLIP-seq
MIRT2451422	hsa-miR-548x	CLIP-seq
MIRT2451423	hsa-miR-548z	CLIP-seq
MIRT2451424	hsa-miR-593	CLIP-seq
MIRT1055540	hsa-miR-769-5p	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	NAS	11067870
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS	11067870
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0035754	Process	B cell chemotaxis	IEA
GO:0035754	Process	B cell chemotaxis	ISS
GO:0047016	Function	Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	IEA
GO:0047016	Function	Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	ISS

Other IDs

• MIM: 607764
• HGNC: 18324
• e!Ensembl: ENSG00000099377

Protein

• UniProt ID: Q9H2F3
• Protein name: 3 beta-hydroxysteroid dehydrogenase type 7 (3 beta-hydroxysteroid dehydrogenase type VII) (3-beta-HSD VII) (3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase) (C(27) 3-beta-HSD) (EC 1.1.1.-) (Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase) (EC 1.
• Protein function: The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Inv
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01073	3Beta_HSD	13 → 290	3-beta hydroxysteroid dehydrogenase/isomerase family	Family

• Sequence:

  MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRV
  TAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTG
  TRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRG
  GLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVL
  AARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
  LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILW
  VQAATGSAQ

• Sequence length: 369

Pathways

KEGG:

Primary bile acid biosynthesis
Metabolic pathways

Reactome:

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital bile acid synthesis defect	Pathogenic	rs786200876	RCV004798714	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital bile acid synthesis defect 1	Likely pathogenic; Pathogenic	rs560826820, rs397514442, rs397514443, rs387906288, rs104894518, rs786200876, rs786205627, rs2056470234, rs775934717, rs2543933911	RCV001332605 RCV000003015 RCV000003016 RCV000003017 RCV000003018 RCV000003019 RCV003989486 RCV003338018 RCV005021934 RCV003448839	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HSD3B7-related disorder	Pathogenic; Likely pathogenic	rs786200876, rs886043511, rs775934717, rs775260292	RCV003407263 RCV003401255 RCV003399608 RCV003951486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hemochromatosis	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	30544401	Associate	★☆☆☆☆ Found in Text Mining only
Bile Acid Malabsorption Primary	Bile acid malabsorption	Pubtator	36750304	Associate	★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect congenital 1	Congenital bile acid synthesis defect	Pubtator	22095780	Stimulate	★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect congenital 1	Congenital bile acid synthesis defect	Pubtator	22095780, 34627351	Associate	★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect, congenital, 1	Bile acid synthesis defect	UNIPROT_DG	11067870, 12679481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 1	Bile acid synthesis defect	GENOMICS_ENGLAND_DG	11067870, 12679481, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 1	Bile acid synthesis defect	ORPHANET_DG	12679481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 1	Bile acid synthesis defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 1	Bile acid synthesis defect	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	25526675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	34627351	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	29238877		★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 4	Cholestasis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	24954360, 25931455		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital bile acid synthesis defect type 1	Congenital Bile Acid Synthesis Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	21626031		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	32515122	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	17645593, 34627351	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	17645593, 36750304	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21626031		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23238920, 26670097, 29670816		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29670816	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	11067870, 29238877		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only