AKR1D1 (aldo-keto reductase family 1 member D1)

Gene

• Entrez ID: 6718
• Gene name: Aldo-keto reductase family 1 member D1
• Gene symbol: AKR1D1
• Synonyms (NCBI Gene): 3o5bred, CBAS2, SRD5B1
• Chromosome: 7
• Chromosome location: 7q33
• Summary: The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918342	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918343	C>T	Pathogenic	Missense variant, coding sequence variant
rs187887082	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201988060	G>A,C,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs267606649	C>G	Pathogenic	Missense variant, coding sequence variant
rs267606650	C>T	Pathogenic	Missense variant, coding sequence variant
rs749744865	G>A	Likely-pathogenic	Splice acceptor variant
rs916587979	G>T	Likely-pathogenic	Splice donor variant
rs1433614577	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1554394506	G>T	Likely-pathogenic	3 prime UTR variant, stop lost, terminator codon variant
rs1562938039	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024083	hsa-miR-1-3p	Microarray	18668037
MIRT716455	hsa-miR-1298-5p	HITS-CLIP	19536157
MIRT716454	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT716453	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT629357	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624770	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT624769	hsa-miR-4532	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT441513	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441512	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441511	hsa-miR-3658	PAR-CLIP	22100165
MIRT716455	hsa-miR-1298-5p	HITS-CLIP	19536157
MIRT716454	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT716453	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT629357	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624770	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT624769	hsa-miR-4532	HITS-CLIP	23824327
MIRT624768	hsa-miR-5193	HITS-CLIP	23824327
MIRT624767	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT624766	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT624765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT624764	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT624763	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT624762	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT624761	hsa-miR-4268	HITS-CLIP	23824327
MIRT624760	hsa-miR-4284	HITS-CLIP	23824327
MIRT624759	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT441513	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441512	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441511	hsa-miR-3658	PAR-CLIP	22100165
MIRT776307	hsa-miR-1206	CLIP-seq
MIRT776308	hsa-miR-1224-3p	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT776310	hsa-miR-139-3p	CLIP-seq
MIRT776311	hsa-miR-145	CLIP-seq
MIRT776312	hsa-miR-1913	CLIP-seq
MIRT776313	hsa-miR-1976	CLIP-seq
MIRT776314	hsa-miR-3180-5p	CLIP-seq
MIRT776315	hsa-miR-324-3p	CLIP-seq
MIRT776316	hsa-miR-3653	CLIP-seq
MIRT776317	hsa-miR-3672	CLIP-seq
MIRT776318	hsa-miR-4257	CLIP-seq
MIRT776319	hsa-miR-4294	CLIP-seq
MIRT776320	hsa-miR-4302	CLIP-seq
MIRT776321	hsa-miR-4318	CLIP-seq
MIRT776322	hsa-miR-4694-5p	CLIP-seq
MIRT776323	hsa-miR-4696	CLIP-seq
MIRT776324	hsa-miR-4697-3p	CLIP-seq
MIRT776325	hsa-miR-520a-5p	CLIP-seq
MIRT776326	hsa-miR-525-5p	CLIP-seq
MIRT776327	hsa-miR-653	CLIP-seq
MIRT776328	hsa-miR-720	CLIP-seq
MIRT776308	hsa-miR-1224-3p	CLIP-seq
MIRT776310	hsa-miR-139-3p	CLIP-seq
MIRT776312	hsa-miR-1913	CLIP-seq
MIRT776313	hsa-miR-1976	CLIP-seq
MIRT776315	hsa-miR-324-3p	CLIP-seq
MIRT776319	hsa-miR-4294	CLIP-seq
MIRT776329	hsa-miR-4426	CLIP-seq
MIRT776330	hsa-miR-4647	CLIP-seq
MIRT776331	hsa-miR-4662b	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT776328	hsa-miR-720	CLIP-seq
MIRT1929132	hsa-miR-1202	CLIP-seq
MIRT1929133	hsa-miR-3064-3p	CLIP-seq
MIRT1929134	hsa-miR-3194-5p	CLIP-seq
MIRT1929135	hsa-miR-3972	CLIP-seq
MIRT1929136	hsa-miR-4325	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2169800	hsa-miR-2964a-5p	CLIP-seq
MIRT2169801	hsa-miR-3163	CLIP-seq
MIRT2169802	hsa-miR-4423-5p	CLIP-seq
MIRT2169803	hsa-miR-4781-3p	CLIP-seq
MIRT2169804	hsa-miR-511	CLIP-seq
MIRT2384054	hsa-miR-1288	CLIP-seq
MIRT2384055	hsa-miR-4418	CLIP-seq
MIRT2384056	hsa-miR-4743	CLIP-seq
MIRT2384057	hsa-miR-509-3-5p	CLIP-seq
MIRT2384058	hsa-miR-509-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT2443513	hsa-miR-1972	CLIP-seq
MIRT2443514	hsa-miR-3149	CLIP-seq
MIRT776317	hsa-miR-3672	CLIP-seq
MIRT2443515	hsa-miR-411	CLIP-seq
MIRT2443516	hsa-miR-4258	CLIP-seq
MIRT776319	hsa-miR-4294	CLIP-seq
MIRT2443517	hsa-miR-4650-5p	CLIP-seq
MIRT2443518	hsa-miR-4716-5p	CLIP-seq
MIRT2443519	hsa-miR-4735-5p	CLIP-seq
MIRT2384056	hsa-miR-4743	CLIP-seq
MIRT2443520	hsa-miR-4775	CLIP-seq
MIRT2443521	hsa-miR-4794	CLIP-seq
MIRT2443522	hsa-miR-483-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2443523	hsa-miR-510	CLIP-seq
MIRT2443524	hsa-miR-590-3p	CLIP-seq
MIRT776328	hsa-miR-720	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT2443514	hsa-miR-3149	CLIP-seq
MIRT2443515	hsa-miR-411	CLIP-seq
MIRT2443516	hsa-miR-4258	CLIP-seq
MIRT2443519	hsa-miR-4735-5p	CLIP-seq
MIRT2443520	hsa-miR-4775	CLIP-seq
MIRT2443521	hsa-miR-4794	CLIP-seq
MIRT2443522	hsa-miR-483-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2443524	hsa-miR-590-3p	CLIP-seq
MIRT776309	hsa-miR-129-5p	CLIP-seq
MIRT2443514	hsa-miR-3149	CLIP-seq
MIRT2443515	hsa-miR-411	CLIP-seq
MIRT2443516	hsa-miR-4258	CLIP-seq
MIRT2443519	hsa-miR-4735-5p	CLIP-seq
MIRT2443520	hsa-miR-4775	CLIP-seq
MIRT2443521	hsa-miR-4794	CLIP-seq
MIRT2443522	hsa-miR-483-5p	CLIP-seq
MIRT776332	hsa-miR-5096	CLIP-seq
MIRT2443524	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004032	Function	Aldose reductase (NADPH) activity	IBA
GO:0005496	Function	Steroid binding	TAS	7508385
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	7508385
GO:0005829	Component	Cytosol	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	7508385
GO:0006699	Process	Bile acid biosynthetic process	IDA	7508385
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IDA	7508385
GO:0007586	Process	Digestion	IDA	7508385
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008207	Process	C21-steroid hormone metabolic process	IDA	7508385
GO:0008209	Process	Androgen metabolic process	IBA
GO:0008209	Process	Androgen metabolic process	IDA	7508385
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016229	Function	Steroid dehydrogenase activity	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030573	Process	Bile acid catabolic process	IEA
GO:0032787	Process	Monocarboxylic acid metabolic process	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0047086	Function	Ketosteroid monooxygenase activity	IBA
GO:0047787	Function	Delta4-3-oxosteroid 5beta-reductase activity	IEA

Other IDs

• MIM: 604741
• HGNC: 388
• e!Ensembl: ENSG00000122787

Protein

• UniProt ID: P51857
• Protein name: Aldo-keto reductase family 1 member D1 (EC 1.3.1.3) (3-oxo-5-beta-steroid 4-dehydrogenase) (Delta(4)-3-ketosteroid 5-beta-reductase) (Delta(4)-3-oxosteroid 5-beta-reductase)
• Protein function: Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile aci
• PDB: 3BUR, 3BUV, 3BV7, 3CAQ, 3CAS, 3CAV, 3CMF, 3COT, 3DOP, 3G1R, 3UZW, 3UZX, 3UZY, 3UZZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00248	Aldo_ket_red	20 → 304	Aldo/keto reductase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in liver. Expressed in testis and weakly in colon. {ECO:0000269|PubMed:11342103}.
• Sequence:

  MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQN
  EHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIE
  VPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELIL
  NKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLK
  DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIE
  ALNKNVRFVELLMWRDHPEYPFHDEY

• Sequence length: 326

Pathways

KEGG:

Primary bile acid biosynthesis
Steroid hormone 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
AKR1D1-related disorder	Likely pathogenic	rs2536095242, rs749744865	RCV003400357 RCV003962710	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital bile acid synthesis defect	Likely pathogenic; Pathogenic	rs267606650	RCV004798717	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital bile acid synthesis defect 2	Likely pathogenic; Pathogenic	rs182820353, rs749224036, rs759908186, rs121918343, rs267606650, rs1337598962, rs1433614577, rs1315777461, rs1236669456, rs770247815	RCV001374413 RCV003227972 RCV001785905 RCV000005707 RCV000005709 RCV005407242 RCV000779528 RCV000985019 RCV001169872 RCV001169922	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; 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
Amino Acid Metabolism Inborn Errors	Amino acid metabolism disorder	Pubtator	31337596	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28413214	Associate	★☆☆☆☆ Found in Text Mining only
Bile Acid Malabsorption Primary	Bile acid malabsorption	Pubtator	23323017, 23679950, 26418565	Associate	★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect congenital 1	Congenital bile acid synthesis defect	Pubtator	35758383	Associate	★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect congenital 2	Congenital bile acid synthesis defect	Pubtator	23323017, 31337596, 35758383, 36739965, 38062451	Associate	★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect congenital 4	Congenital bile acid synthesis defect	Pubtator	36739965	Associate	★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect, congenital, 2	Bile acid synthesis defect	ORPHANET_DG	12970144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 2	Bile acid synthesis defect	UNIPROT_DG	12970144, 15030995, 19175828, 20522910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 2	Bile acid synthesis defect	GENOMICS_ENGLAND_DG	12970144, 24816252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 2	Bile acid synthesis defect	CTD_human_DG	21185810, 25304492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 2	Bile acid synthesis defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33493134	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30769091, 33493134	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	23679950, 26418565, 35758383, 8707100	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	31337596	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital bile acid synthesis defect type 2	Congenital Bile Acid Synthesis Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	29024782		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29024782		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31330134	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	31330134	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	CTD_human_DG	18624455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG	18624455		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12970144, 23679950, 8707100	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	12970144		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	12970144, 36739965	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	GENOMICS_ENGLAND_DG			★☆☆☆☆ 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
Metabolic Diseases	Metabolic Diseases	BEFREE	29024782		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	12970144	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31695473		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31330134		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	12970144	Inhibit	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28413214		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31330134		★☆☆☆☆ Found in Text Mining only