CYP7A1 (cytochrome P450 family 7 subfamily A member 1)

Gene

• Entrez ID: 1581
• Gene name: Cytochrome P450 family 7 subfamily A member 1
• Gene symbol: CYP7A1
• Synonyms (NCBI Gene): CP7A, CYP7, CYPVII
• Chromosome: 8
• Chromosome location: 8q12.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147162838	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000469	hsa-miR-422a	qRT-PCR, Luciferase reporter assay	20351063
MIRT000012	hsa-miR-122-5p	qRT-PCR, Luciferase reporter assay	20351063
MIRT000012	hsa-miR-122-5p	qRT-PCR, Luciferase reporter assay	20351063
MIRT000469	hsa-miR-422a	qRT-PCR, Luciferase reporter assay	20351063
MIRT000469	hsa-miR-422a	qRT-PCR, Luciferase reporter assay	20351063
MIRT018408	hsa-miR-335-5p	Microarray	18185580
MIRT048926	hsa-miR-92a-3p	CLASH	23622248
MIRT921896	hsa-miR-3613-5p	CLIP-seq
MIRT921897	hsa-miR-4310	CLIP-seq
MIRT921898	hsa-miR-4672	CLIP-seq
MIRT921899	hsa-miR-548ag	CLIP-seq
MIRT921900	hsa-miR-548ai	CLIP-seq
MIRT921901	hsa-miR-548m	CLIP-seq
MIRT921902	hsa-miR-548p	CLIP-seq
MIRT1973068	hsa-miR-1343	CLIP-seq
MIRT1973069	hsa-miR-3545-3p	CLIP-seq
MIRT1973070	hsa-miR-3663-5p	CLIP-seq
MIRT1973071	hsa-miR-378g	CLIP-seq
MIRT1973072	hsa-miR-4437	CLIP-seq
MIRT1973073	hsa-miR-4635	CLIP-seq
MIRT1973074	hsa-miR-4674	CLIP-seq
MIRT1973075	hsa-miR-4680-5p	CLIP-seq
MIRT2465167	hsa-miR-4422	CLIP-seq
MIRT2465168	hsa-miR-4803	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DBP	Activation	8617210
HDAC7	Unknown	17654698
HNF4A	Repression	23626788
NR0B2	Unknown	15358835;15581596
NR1H4	Repression	17135343
PPARGC1A	Activation	16891307
PROX1	Repression	23626788
RXRA	Unknown	19106115
SMAD3	Repression	17920062
SP1	Unknown	9875228
VDR	Repression	19106115;20371703

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
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:0006699	Process	Bile acid biosynthetic process	IBA
GO:0006699	Process	Bile acid biosynthetic process	IDA	19965590
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	ISS
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0006707	Process	Cholesterol catabolic process	ISS
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	IBA
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	IDA	12077124
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	IEA
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	ISS
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	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:0032966	Process	Negative regulation of collagen biosynthetic process	IEA
GO:0033782	Function	24S-hydroxycholesterol 7-alpha-hydroxylase activity	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	ISS
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IEA
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070857	Process	Regulation of bile acid biosynthetic process	IDA	19965590
GO:0070857	Process	Regulation of bile acid biosynthetic process	IEA
GO:0070857	Process	Regulation of bile acid biosynthetic process	ISS
GO:0071333	Process	Cellular response to glucose stimulus	IDA	19965590
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071397	Process	Cellular response to cholesterol	IEA
GO:0071397	Process	Cellular response to cholesterol	ISS

Other IDs

• MIM: 118455
• HGNC: 2651
• e!Ensembl: ENSG00000167910

Protein

• UniProt ID: P22680
• Protein name: Cytochrome P450 7A1 (24-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.26) (CYPVII) (Cholesterol 7-alpha-hydroxylase) (Cholesterol 7-alpha-monooxygenase) (EC 1.14.14.23)
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643, PubMed:2384150). Mechanistically, uses molecula
• PDB: 3DAX, 3SN5, 3V8D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	32 → 497	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in liver. {ECO:0000269|PubMed:15796896}.
• Sequence:

  MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQ
  RKHGHVFTCKLMGKYVHFITNPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGN
  TTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSNSKTAAWVTEGMYSFCYRVMF
  EAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAE
  SLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQ
  MIRNPEAMKAATEEVKRTLENAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSAS
  LNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEIYPDPLTFKYDRYLDENGKTK
  TTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLD
  QSRAGLGILPPLNDIEFKYKFKHL

• Sequence length: 504

Pathways

KEGG:

Primary bile acid biosynthesis
Steroid hormone biosynthesis
Metabolic pathways
PPAR signaling pathway
Bile secretion
Cholesterol metabolism

Reactome:

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
PPARA activates gene expression
Endogenous sterols

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP7A1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute hepatic steatosis	Hepatic steatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30954792		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16630139, 22058145		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	30544401	Associate	★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	25444747		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15707388, 28039934		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	16709249	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	10508208, 17341815, 18728290	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15707388, 28039934		★☆☆☆☆ Found in Text Mining only
Bile Acid Malabsorption Primary	Bile acid malabsorption	Pubtator	18728290, 7852865	Associate	★☆☆☆☆ Found in Text Mining only
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect	GENOMICS_ENGLAND_DG	9802883		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	30156739		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16630139	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30354296	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	15469403, 15780204, 30354296, 30978324		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30354296	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28445152	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28008998	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	18178499, 20005541, 25103562		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	12093894, 16709249, 19995447	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	BEFREE	18178499, 18307386, 20005541, 25103562, 29529257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	17920062, 21123943, 21526375, 30077711, 30504803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	22461449, 9797378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	28008998	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestatic liver disease	Cholestatic liver disease	BEFREE	30122083		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	16075052, 16506961, 19995447, 20872969		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15805302, 16630139		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	16630139	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15805302, 22058145		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16630139, 22058145	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	30156739		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25887678, 25944972, 30354296		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19558216, 20578904, 25887678, 25944972, 30354296		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25944972, 30354296	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25887678, 25944972, 30354296		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	14522988, 18385139		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37923501	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	14522988, 18385139, 30354296		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30354296	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26345803	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18385139		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26345803		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	19463968, 28039934		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28536109		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	18178499, 20005541		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	18178499		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	29529257		★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	29654817	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	22889738		★☆☆☆☆ Found in Text Mining only
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	Homocystinuria	BEFREE	30408316		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	12202481, 21858147, 29243851, 29890224, 30116313, 30709899, 30937311, 30978324, 31195089, 31663874		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	Pubtator	16709249, 17341815, 30709899	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	CTD_human_DG	8245718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Hypercholesterolemia	ORPHANET_DG	12093894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Hypercholesterolemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Hypercholesterolemia	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	15241483, 15530918, 31795497		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	LHGDN	12093894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	BEFREE	30031400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	25176936		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	12093894	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	26936139	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	15530918, 31795497		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21346769		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	14592954		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	12093894, 16709249	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28445152		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	31179571		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30954792		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	28127194	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15752749		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21615622, 28445152, 29850457, 30354296		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	28570655	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28008998, 28127194, 30122083	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25798860, 28008998, 39889904	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29850457		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	18178499, 20005541		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15805302, 16630139		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30864445		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	12093894, 16709249	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27146480		★☆☆☆☆ Found in Text Mining only
Methylenetetrahydrofolate reductase deficiency	Methylenetetrahydrofolate Reductase Deficiency	BEFREE	30408316		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23740208		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29529257		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	19850125, 23740208		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28754826, 28774887, 31480575		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	18782852		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	12093894	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	18782852		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	17696930, 20857261, 23354620, 28570655		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28536109, 29721023, 30408316		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29243851		★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	15576845, 24771866	Associate	★☆☆☆☆ Found in Text Mining only