Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9420
Gene name	Cytochrome P450 family 7 subfamily B member 1
Gene symbol	CYP7B1
Synonyms (NCBI Gene)	CBAS3CP7BSPG5A
Chromosome	8
Chromosome location	8q12.3
Summary	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic r

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72554620	G>A	Pathogenic	Coding sequence variant, stop gained
rs114797034	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs116171274	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs121908610	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908611	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs121908612	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908613	A>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121908614	C>T	Pathogenic	Missense variant, coding sequence variant
rs200737038	G>A	Pathogenic	Stop gained, coding sequence variant
rs267606758	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs367916692	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs371522442	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs535728519	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587777221	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs587777222	T>C	Pathogenic	Missense variant, coding sequence variant
rs746979262	G>A	Pathogenic	Stop gained, coding sequence variant
rs751713917	A>G	Pathogenic	Splice donor variant
rs754730601	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769676029	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs770065565	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs770285398	GTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727501	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs886041525	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502224	->A	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1190562443	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1554524697	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1585808059	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018771	hsa-miR-335-5p	Microarray	18185580
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608951	hsa-miR-1915-3p	HITS-CLIP	24906430
MIRT608952	hsa-miR-6764-5p	HITS-CLIP	24906430
MIRT608950	hsa-miR-4455	HITS-CLIP	24906430
MIRT608949	hsa-miR-3650	HITS-CLIP	24906430
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608395	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608395	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT560897	hsa-miR-302f	PAR-CLIP	20371350
MIRT560896	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT560895	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT560894	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT560893	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT560892	hsa-miR-1273e	PAR-CLIP	20371350
MIRT560895	hsa-miR-4795-5p	PAR-CLIP	27292025
MIRT560896	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT560893	hsa-miR-7847-3p	PAR-CLIP	27292025
MIRT608951	hsa-miR-1915-3p	HITS-CLIP	27418678
MIRT608949	hsa-miR-3650	HITS-CLIP	27418678
MIRT608950	hsa-miR-4455	HITS-CLIP	27418678
MIRT608395	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608395	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608395	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608952	hsa-miR-6764-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT608396	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608395	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT560897	hsa-miR-302f	PAR-CLIP	20371350
MIRT560896	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT560895	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT560894	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT560893	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT560892	hsa-miR-1273e	PAR-CLIP	20371350
MIRT921903	hsa-miR-199a-5p	CLIP-seq
MIRT921904	hsa-miR-199b-5p	CLIP-seq
MIRT921905	hsa-miR-3688-3p	CLIP-seq
MIRT921906	hsa-miR-490-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
AR	Repression	16630558
SP1	Unknown	11470525

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IBA
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS	9802883
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	IBA
GO:0008396	Function	Oxysterol 7-alpha-hydroxylase activity	TAS	9802883
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0030520	Process	Estrogen receptor signaling pathway	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033782	Function	24S-hydroxycholesterol 7-alpha-hydroxylase activity	IEA
GO:0033783	Function	25-hydroxycholesterol 7-alpha-hydroxylase activity	IEA
GO:0035754	Process	B cell chemotaxis	IEA
GO:0035754	Process	B cell chemotaxis	ISS
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060740	Process	Prostate gland epithelium morphogenesis	IEA

MIM	HGNC	e!Ensembl
603711	2652	ENSG00000172817

O75881

Protein name

Cytochrome P450 7B1 (24-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.26) (25/26-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.29) (3-hydroxysteroid 7-alpha hydroxylase) (Oxysterol 7-alpha-hydroxylase)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	46 → 500	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in brain, testis, ovary, prostate, liver, colon, kidney, small intestine, thymus and spleen. {ECO:0000269|PubMed:10588945}.

Sequence

MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVL
NLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLE
KAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAEL
YPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPT
MFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEAL
RLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIE
DGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPI
GLNYSRLLFGIQYPDSDVLFRYKVKS

Sequence length

506

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Steroid hormone biosynthesis		Synthesis of bile acids and bile salts Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 27-hydroxycholesterol Endogenous sterols Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital bile acid synthesis defect 3	Pathogenic; Likely pathogenic	rs773976307, rs72554620, rs121908611, rs121908613, rs116171274, rs200737038, rs751713917, rs770285398, rs1245262159, rs747514399, rs1060502224, rs746979262, rs866340497	RCV005232673 RCV000006473 RCV005041995 RCV005049318 RCV002476935 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYP7B1-related disorder	Pathogenic; Likely pathogenic	rs587777222, rs121908611, rs116171274, rs1199682889, rs746979262	RCV003415876 RCV003894794 RCV003398453 RCV003893533 RCV004742515	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia	Pathogenic; Likely pathogenic	rs587777222, rs121908610, rs121908611, rs121908613, rs116171274, rs200737038, rs1554524697, rs1298132281, rs748480664, rs866340497, rs747514385	RCV004782239 RCV001847590 RCV001847591 RCV000515995 RCV000516130 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 5A	Pathogenic; Likely pathogenic	rs587777222, rs72554620, rs121908610, rs121908614, rs121908611, rs121908612, rs121908613, rs267606758, rs116171274, rs200737038, rs751713917, rs770285398, rs1245262159, rs747514399, rs1060502224 View all (10 more)	RCV000106302 RCV000006474 RCV000006475 RCV000006476 RCV000006477 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs1385678413	RCV005910803	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs2129630194	RCV001647246	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs2129629942, rs587777222, rs773976307, rs2129629945, rs2129630217, rs1563367625, rs2536112446, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs1804744616, rs2536112593, rs2487154014 View all (41 more)	RCV003588741 RCV000200232 RCV002542493 RCV001910804 RCV001873040 View all (52 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital bile acid synthesis defect	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP7B1-RELATED DISORDER OF OXYSTEROL ACCUMULATION	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Recessive	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (121)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	30544401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism Inborn Errors	Amino acid metabolism disorder	Pubtator	31337596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34946825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	12874406, 19439420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	18252231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 5A	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile Acid Synthesis Defect Congenital 3	Congenital bile acid synthesis defect	Pubtator	35387662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect	GENOMICS_ENGLAND_DG	31337596, 9802883		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect	ORPHANET_DG	9802883		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile Acid Synthesis Defect, Congenital, 3	Congenital 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
Breast Carcinoma	Breast Carcinoma	BEFREE	31720082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32075687, 37614064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	24519355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	33849447	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	9802883		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	33849447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29674392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30742043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27278684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27341022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27341022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital bile acid synthesis defect type 3	Congenital Bile Acid Synthesis Defect	BEFREE	31337596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital bile acid synthesis defect type 3	Congenital Bile Acid Synthesis Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	34493281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30728500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29249638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29249638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29249638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29371332, 39289693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paresis hereditary congenital	Facial nerve disorder	Pubtator	19812052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	23391614		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	23391614, 31113816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34946825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31599189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	18252231, 18855023, 19187859, 19363635, 21541746, 23812641, 24117163, 26374131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	18252231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary X-Linked Recessive Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	18252231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	BEFREE	21541746		★★★★★ ★☆☆☆☆ Found in Text Mining only
HMSN Type V	Charcot-Marie-Tooth disease	CTD_human_DG	18252231		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 31B	Immunodeficiency	GWASCAT_DG	22174851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	27628953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21567895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipid Metabolism, Inborn Errors	Lipid Metabolism, Inborn Errors	CTD_human_DG	18252231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	30546280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33849447	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	BEFREE	19687010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	21567895, 24491228, 33849447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25798860	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	34946825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39438997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30718901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	31720082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	31599189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15007371, 17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27278684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27278684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28637315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30728500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	18252231, 26370385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26370385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17639508, 24210818, 29249638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24491228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21335619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24117163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	19687010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	30333426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	34946825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	21567895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15007371, 17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	17639508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15007371		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	17639508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17639508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15751070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	18252231, 19439420, 19812052, 21214876, 21541746, 21623769, 23812641, 24117163, 24482476, 24519355, 9802883		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	BEFREE	19187859, 26370385		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	UNIPROT_DG	18252231, 19439420, 21214876, 24117163, 26714052, 27217339		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	CLINVAR_DG	18252231, 19439420, 21452256, 21541746, 21567895, 21623769, 22384504, 23812641, 24117163, 24658845, 27217339		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	GENOMICS_ENGLAND_DG	29126212, 31337596		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)	Spastic paraplegia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	BEFREE	21623769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26374131, 27879216, 27879220, 29126212, 29980238, 30333426, 33160247, 33849447, 34946825, 37024986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	CTD_human_DG	19812052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	BEFREE	29228183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	CTD_human_DG	18252231		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	18855023, 19439420, 21214876, 21541746, 22554690, 24117163, 24658845, 27879216, 27879220		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	CTD_human_DG	23391614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30588086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Troyer syndrome	Troyer Syndrome	BEFREE	22554690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30742043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked, Spastic Paraplegia, Hereditary	Hereditary spastic paraplegia, X-linked	CTD_human_DG	18252231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	37024986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP7B1 (cytochrome P450 family 7 subfamily B member 1)