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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23600
Gene name	Alpha-methylacyl-CoA racemase
Gene symbol	AMACR
Synonyms (NCBI Gene)	AMACRDCBAS4P504SRACERM
Chromosome	5
Chromosome location	5p13.2
Summary	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxid

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041573	hsa-miR-193b-3p	CLASH	23622248
MIRT054415	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	24517338
MIRT054415	hsa-miR-26a-5p	Luciferase reporter assayqRT-PCRWestern blot	24517338
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569680	hsa-miR-759	PAR-CLIP	20371350
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569684	hsa-miR-1183	PAR-CLIP	20371350
MIRT569682	hsa-miR-4705	PAR-CLIP	20371350
MIRT569683	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT569681	hsa-miR-1208	PAR-CLIP	20371350
MIRT569680	hsa-miR-759	PAR-CLIP	20371350
MIRT779499	hsa-miR-1227	CLIP-seq
MIRT779500	hsa-miR-124	CLIP-seq
MIRT779501	hsa-miR-1915	CLIP-seq
MIRT779502	hsa-miR-4480	CLIP-seq
MIRT779503	hsa-miR-4685-5p	CLIP-seq
MIRT779504	hsa-miR-4761-3p	CLIP-seq
MIRT779505	hsa-miR-506	CLIP-seq
MIRT779506	hsa-miR-548g	CLIP-seq
MIRT779507	hsa-miR-1297	CLIP-seq
MIRT779508	hsa-miR-1972	CLIP-seq
MIRT779509	hsa-miR-224	CLIP-seq
MIRT779510	hsa-miR-26a	CLIP-seq
MIRT779511	hsa-miR-26b	CLIP-seq
MIRT779512	hsa-miR-3065-5p	CLIP-seq
MIRT779513	hsa-miR-3074-3p	CLIP-seq
MIRT779514	hsa-miR-3614-5p	CLIP-seq
MIRT779515	hsa-miR-3671	CLIP-seq
MIRT779516	hsa-miR-4272	CLIP-seq
MIRT779517	hsa-miR-4465	CLIP-seq
MIRT779518	hsa-miR-4493	CLIP-seq
MIRT779519	hsa-miR-4499	CLIP-seq
MIRT779520	hsa-miR-4517	CLIP-seq
MIRT779521	hsa-miR-4529-5p	CLIP-seq
MIRT779522	hsa-miR-4537	CLIP-seq
MIRT779523	hsa-miR-4698	CLIP-seq
MIRT779524	hsa-miR-548c-3p	CLIP-seq
MIRT779525	hsa-miR-607	CLIP-seq
MIRT779526	hsa-miR-889	CLIP-seq
MIRT779509	hsa-miR-224	CLIP-seq
MIRT1930060	hsa-miR-3591-3p	CLIP-seq
MIRT1930061	hsa-miR-4757-5p	CLIP-seq
MIRT2170868	hsa-miR-4420	CLIP-seq
MIRT2170869	hsa-miR-548a-3p	CLIP-seq
MIRT2170870	hsa-miR-548e	CLIP-seq
MIRT2170871	hsa-miR-548f	CLIP-seq
MIRT2435316	hsa-miR-1277	CLIP-seq
MIRT2435317	hsa-miR-378	CLIP-seq
MIRT2435318	hsa-miR-378b	CLIP-seq
MIRT2435319	hsa-miR-378c	CLIP-seq
MIRT2435320	hsa-miR-378d	CLIP-seq
MIRT2435321	hsa-miR-378e	CLIP-seq
MIRT2435322	hsa-miR-378f	CLIP-seq
MIRT2435323	hsa-miR-378h	CLIP-seq
MIRT2435324	hsa-miR-378i	CLIP-seq
MIRT2435325	hsa-miR-422a	CLIP-seq
MIRT2435326	hsa-miR-4638-3p	CLIP-seq
MIRT2435327	hsa-miR-642a	CLIP-seq
MIRT2435328	hsa-miR-943	CLIP-seq
MIRT2435316	hsa-miR-1277	CLIP-seq
MIRT2435317	hsa-miR-378	CLIP-seq
MIRT2435318	hsa-miR-378b	CLIP-seq
MIRT2435319	hsa-miR-378c	CLIP-seq
MIRT2435320	hsa-miR-378d	CLIP-seq
MIRT2435321	hsa-miR-378e	CLIP-seq
MIRT2435322	hsa-miR-378f	CLIP-seq
MIRT2435323	hsa-miR-378h	CLIP-seq
MIRT2435324	hsa-miR-378i	CLIP-seq
MIRT2435325	hsa-miR-422a	CLIP-seq
MIRT2435326	hsa-miR-4638-3p	CLIP-seq
MIRT2435327	hsa-miR-642a	CLIP-seq
MIRT2435328	hsa-miR-943	CLIP-seq
MIRT2443604	hsa-miR-3616-3p	CLIP-seq
MIRT2443605	hsa-miR-3662	CLIP-seq
MIRT2443606	hsa-miR-4436b-3p	CLIP-seq
MIRT2443607	hsa-miR-4468	CLIP-seq
MIRT2443608	hsa-miR-4721	CLIP-seq
MIRT2443609	hsa-miR-4802-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP1	Unknown	19148275
ZNF202	Unknown	19148275

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005102	Function	Signaling receptor binding	IPI	11060344
GO:0005737	Component	Cytoplasm	IDA	15941950
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	7649182, 11060344, 11060359, 20102405
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IDA	7649182, 11060344, 11060359
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	EXP	7649182
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IBA
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IDA	7649182, 11060359
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IEA
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	IMP	10655068
GO:0008111	Function	Alpha-methylacyl-CoA racemase activity	TAS
GO:0008206	Process	Bile acid metabolic process	IBA
GO:0008206	Process	Bile acid metabolic process	IDA	10655068
GO:0016853	Function	Isomerase activity	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS

MIM	HGNC	e!Ensembl
604489	451	ENSG00000242110

Q9UHK6

Protein name

Alpha-methylacyl-CoA racemase (EC 5.1.99.4) (2-methylacyl-CoA racemase)

Protein function

Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:10655068, PubMed:11060359, PubMed:7649182). Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as subs

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02515	CoA_transf_3	3 → 350	CoA-transferase family III	Family

Sequence

MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQP
RGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLA
GHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVI
DANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQF
YELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTF
EEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFS
REEIYQLNSDKIIESNKVKASL

Sequence length

382

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Metabolic pathways Peroxisome		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 24-hydroxycholesterol Beta-oxidation of pristanoyl-CoA Peroxisomal protein import

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alpha-methylacyl-CoA racemase deficiency	Likely pathogenic; Pathogenic	rs121917814	RCV000005858	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMACR-related disorder	Likely pathogenic; Pathogenic	rs121917814	RCV003952344	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital bile acid synthesis defect 4	Likely pathogenic; Pathogenic	rs121917814, rs121917816	RCV000005859 RCV000005860	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND MOTOR NEUROPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (193)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29263035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	21401966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	14506641, 15330799, 17550379, 30832497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16506014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18665038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28881646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	31361605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10029085, 14642549, 17550379, 9484777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16424894, 17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpha-Methylacyl-CoA Racemase Deficiency	Alpha-Methylacyl-CoA Racemase Deficiency	CLINVAR_DG	10655068, 12512044, 15249642, 18032455, 20821052, 21576695		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-Methylacyl-CoA Racemase Deficiency	Alpha-Methylacyl-CoA Racemase Deficiency	UNIPROT_DG	10655068		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-Methylacyl-CoA Racemase Deficiency	Alpha-Methylacyl-CoA Racemase Deficiency	GENOMICS_ENGLAND_DG	10655068, 27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-Methylacyl-CoA Racemase Deficiency	Alpha-Methylacyl-CoA Racemase Deficiency	BEFREE	17956237		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-Methylacyl-CoA Racemase Deficiency	Alpha-Methylacyl-CoA Racemase Deficiency	ORPHANET_DG	18577977		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-Methylacyl-CoA Racemase Deficiency	Alpha-Methylacyl-CoA Racemase Deficiency	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29401239, 30629160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	22507319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23166633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	18500268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	18665038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	18665038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	17067752, 17222253, 24937670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bile acid synthesis defect, congenital, 4	Bile acid synthesis defect	UNIPROT_DG	10655068, 12512044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 4	Bile acid synthesis defect	GENOMICS_ENGLAND_DG	10655068, 12512044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 4	Bile acid synthesis defect	ORPHANET_DG	18577977		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 4	Bile acid synthesis defect	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect, congenital, 4	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	10620514, 15941950, 25868708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35998819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	21195844	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	25808739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19148275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	17922592	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11956072, 14506641, 14642549, 15941950, 17067752, 17550379, 24833092, 30550483, 31361605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	35998819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18577240	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25092674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	20503447, 31419984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	35998819	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	35998819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18687502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15858144, 18788852, 20812179, 22369180, 24119561, 24427344, 31361605, 33036062, 37041497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	17922592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17922592	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	14506641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30580284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	26888362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	29593061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	26888362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29668591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	BEFREE	23648463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	19390420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14642549, 30061258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15803184, 19148275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12213712, 17525630, 22161860, 26474385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12213712, 15389251	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17525630, 18712414		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17684125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital bile acid synthesis defect type 4	Congenital Bile Acid Synthesis Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30629160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11780355, 15858144, 22009118, 23957913, 26426379, 28416105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	10655068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	10637510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	25149154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	29593061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	27271990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	35998819	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	18788852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	25473890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25473890, 25987131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	14506641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	37041497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12581848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	15479185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30629160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35998819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	CTD_human_DG	10655068		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	17680641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary, Type VII, Motor and Sensory Neuropathy	Motor and Sensory Neuropathy	CTD_human_DG	10655068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	26347284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21385932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	15858144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11668351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18835622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	10686944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	15858144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	8812423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	8812423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12902989, 14506641, 21457159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18577240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17922592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	23827886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10620514, 15941950, 25868708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	14506641, 20003233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18687502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11926890, 11956072, 12213712, 12438241, 12810662, 12949937, 14612535, 14642549, 14960364, 15330799, 15548358, 15599942, 15750627, 15755877, 15880524 View all (41 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17173048, 22919386, 24763052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	14506641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11956072, 12213712, 14506641, 14997048, 15755877, 17222253, 17684125, 20003233, 22417861, 25115815, 26928323, 27271990, 28338138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14642549, 30061258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31623366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25149154		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25149154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25149154	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	26281327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26281327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	11926890, 15941951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35998819	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	18500268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	31107862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26648339		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12203785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18322654, 24833092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24833092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10029085, 12213712, 12810662, 14506641, 15585890, 15941950, 17067752, 17124599, 17222253, 17323425, 17525630, 17550379, 18322654, 18381932, 18687502 View all (14 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15548358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	11118632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	11118632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20624322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	15941950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17956237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	30072012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37041497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	15858144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	24675392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	17684125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	20567845, 20861792, 24675392, 26574846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25175022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	29176795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	10655068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	11861706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	17683075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	17680641, 17683075, 17684125, 18537123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11926890, 11956072, 12213712, 12438241, 12810662, 12949937, 14506641, 14612535, 14642549, 14960364, 15330799, 15548358, 15599942, 15750627, 15755877 View all (41 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic disease	Pubtator	28508828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	12673556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	24937670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	17222253, 22507319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	11926890, 17222253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	LHGDN	16506014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11926890, 12810662, 14612535, 15330799, 15941951, 16491480, 17067752, 17222253, 17680641, 17683075, 18537123, 19068396		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12057920, 12213712, 14982837, 15205683, 15548358, 15755877, 16046710, 16916997, 17222253, 17683075, 17922592, 18257117, 18781151, 19058139, 19371911 View all (22 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17173048, 22919386, 24763052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19148275, 22507319	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	25514598		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal carcinoma	Renal Carcinoma	BEFREE	20003233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11780355, 14506641, 17124599, 17956237, 22009118, 23957913, 26426379, 28416105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	16424894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	11861706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	19562714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9714346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	24427344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20875727, 28902459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20875727		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	28902459	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	26347284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	17922592	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10708588, 29725255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29725255	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	29542414, 30176735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	39336516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39336516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	12955091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35998819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	24832166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21647200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	23827886		★★★★★ ★☆☆☆☆ Found in Text Mining only

AMACR (alpha-methylacyl-CoA racemase)