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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6646
Gene name	Sterol O-acyltransferase 1
Gene symbol	SOAT1
Synonyms (NCBI Gene)	ACACTACATACAT-1ACAT1SOATSTAT
Chromosome	1
Chromosome location	1q25.2
Summary	The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atheroscle

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Show/Hide all (239)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016592	hsa-miR-193b-3p	Microarray	20304954
MIRT024321	hsa-miR-215-5p	Microarray	19074876
MIRT026807	hsa-miR-192-5p	Microarray	19074876
MIRT027734	hsa-miR-98-5p	Microarray	19088304
MIRT045139	hsa-miR-186-5p	CLASH	23622248
MIRT041152	hsa-miR-500a-3p	CLASH	23622248
MIRT035871	hsa-miR-1303	CLASH	23622248
MIRT699056	hsa-miR-512-5p	HITS-CLIP	23313552
MIRT699055	hsa-miR-510-5p	HITS-CLIP	23313552
MIRT699054	hsa-miR-4453	HITS-CLIP	23313552
MIRT699053	hsa-miR-4538	HITS-CLIP	23313552
MIRT699052	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT699051	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT699050	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT699049	hsa-miR-940	HITS-CLIP	23313552
MIRT699048	hsa-miR-3929	HITS-CLIP	23313552
MIRT699047	hsa-miR-4419b	HITS-CLIP	23313552
MIRT699046	hsa-miR-4478	HITS-CLIP	23313552
MIRT699045	hsa-miR-5690	HITS-CLIP	23313552
MIRT699044	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT699043	hsa-miR-4459	HITS-CLIP	23313552
MIRT699042	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT699041	hsa-miR-665	HITS-CLIP	23313552
MIRT699040	hsa-miR-3664-3p	HITS-CLIP	23313552
MIRT699039	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT699038	hsa-miR-1827	HITS-CLIP	23313552
MIRT699037	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT699036	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT699035	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT699034	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT699033	hsa-miR-548ac	HITS-CLIP	23313552
MIRT699032	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT699031	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT699030	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT699029	hsa-miR-548z	HITS-CLIP	23313552
MIRT699028	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT699027	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT699026	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT699025	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT699024	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT699023	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT699022	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT699021	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT699020	hsa-miR-2681-3p	HITS-CLIP	23313552
MIRT699019	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT699018	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT699056	hsa-miR-512-5p	HITS-CLIP	23313552
MIRT699055	hsa-miR-510-5p	HITS-CLIP	23313552
MIRT699054	hsa-miR-4453	HITS-CLIP	23313552
MIRT699053	hsa-miR-4538	HITS-CLIP	23313552
MIRT699052	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT699051	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT699050	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT699049	hsa-miR-940	HITS-CLIP	23313552
MIRT699048	hsa-miR-3929	HITS-CLIP	23313552
MIRT699047	hsa-miR-4419b	HITS-CLIP	23313552
MIRT699046	hsa-miR-4478	HITS-CLIP	23313552
MIRT699045	hsa-miR-5690	HITS-CLIP	23313552
MIRT699044	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT699043	hsa-miR-4459	HITS-CLIP	23313552
MIRT699042	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT699041	hsa-miR-665	HITS-CLIP	23313552
MIRT699040	hsa-miR-3664-3p	HITS-CLIP	23313552
MIRT699039	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT699038	hsa-miR-1827	HITS-CLIP	23313552
MIRT699037	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT699036	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT699035	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT699034	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT699033	hsa-miR-548ac	HITS-CLIP	23313552
MIRT699032	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT699031	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT699030	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT699029	hsa-miR-548z	HITS-CLIP	23313552
MIRT699028	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT699027	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT699026	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT699025	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT699024	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT699023	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT699022	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT699021	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT699020	hsa-miR-2681-3p	HITS-CLIP	23313552
MIRT699019	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT699018	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT1378436	hsa-miR-1297	CLIP-seq
MIRT1378437	hsa-miR-1299	CLIP-seq
MIRT1378438	hsa-miR-1825	CLIP-seq
MIRT1378439	hsa-miR-192	CLIP-seq
MIRT1378440	hsa-miR-199a-5p	CLIP-seq
MIRT1378441	hsa-miR-199b-5p	CLIP-seq
MIRT1378442	hsa-miR-202	CLIP-seq
MIRT1378443	hsa-miR-215	CLIP-seq
MIRT1378444	hsa-miR-26a	CLIP-seq
MIRT1378445	hsa-miR-26b	CLIP-seq
MIRT1378446	hsa-miR-3925-3p	CLIP-seq
MIRT1378447	hsa-miR-4257	CLIP-seq
MIRT1378448	hsa-miR-4320	CLIP-seq
MIRT1378449	hsa-miR-4465	CLIP-seq
MIRT1378450	hsa-miR-4659a-3p	CLIP-seq
MIRT1378451	hsa-miR-4659b-3p	CLIP-seq
MIRT1378452	hsa-miR-4678	CLIP-seq
MIRT1378453	hsa-miR-4705	CLIP-seq
MIRT1378454	hsa-miR-4709-5p	CLIP-seq
MIRT1378455	hsa-miR-4775	CLIP-seq
MIRT1378456	hsa-miR-4782-5p	CLIP-seq
MIRT1378457	hsa-miR-502-5p	CLIP-seq
MIRT1378458	hsa-miR-516b	CLIP-seq
MIRT1553912	hsa-miR-190	CLIP-seq
MIRT1553913	hsa-miR-190b	CLIP-seq
MIRT1553914	hsa-miR-320a	CLIP-seq
MIRT1553915	hsa-miR-320b	CLIP-seq
MIRT1553916	hsa-miR-320c	CLIP-seq
MIRT1553917	hsa-miR-320d	CLIP-seq
MIRT1553918	hsa-miR-4429	CLIP-seq
MIRT2112912	hsa-miR-3682-5p	CLIP-seq
MIRT2112913	hsa-miR-520d-5p	CLIP-seq
MIRT2112914	hsa-miR-524-5p	CLIP-seq
MIRT2394945	hsa-miR-1238	CLIP-seq
MIRT2394946	hsa-miR-338-5p	CLIP-seq
MIRT2394947	hsa-miR-4307	CLIP-seq
MIRT2460240	hsa-miR-3978	CLIP-seq
MIRT2460241	hsa-miR-4481	CLIP-seq
MIRT2460242	hsa-miR-4658	CLIP-seq
MIRT2460243	hsa-miR-4745-5p	CLIP-seq
MIRT2460244	hsa-miR-4758-5p	CLIP-seq
MIRT2460245	hsa-miR-550b	CLIP-seq
MIRT2630059	hsa-miR-1207-3p	CLIP-seq
MIRT2394945	hsa-miR-1238	CLIP-seq
MIRT2630060	hsa-miR-1283	CLIP-seq
MIRT2630061	hsa-miR-181a	CLIP-seq
MIRT2630062	hsa-miR-181b	CLIP-seq
MIRT2630063	hsa-miR-181c	CLIP-seq
MIRT2630064	hsa-miR-181d	CLIP-seq
MIRT2630065	hsa-miR-200b	CLIP-seq
MIRT2630066	hsa-miR-200c	CLIP-seq
MIRT1378442	hsa-miR-202	CLIP-seq
MIRT2630067	hsa-miR-2276	CLIP-seq
MIRT2630068	hsa-miR-2355-5p	CLIP-seq
MIRT2630069	hsa-miR-28-3p	CLIP-seq
MIRT2630070	hsa-miR-3125	CLIP-seq
MIRT2630071	hsa-miR-3127-3p	CLIP-seq
MIRT2630072	hsa-miR-3163	CLIP-seq
MIRT2630073	hsa-miR-329	CLIP-seq
MIRT2630074	hsa-miR-335	CLIP-seq
MIRT2630075	hsa-miR-340	CLIP-seq
MIRT2630076	hsa-miR-362-3p	CLIP-seq
MIRT2630077	hsa-miR-3662	CLIP-seq
MIRT2630078	hsa-miR-3667-3p	CLIP-seq
MIRT2630079	hsa-miR-3680	CLIP-seq
MIRT2112912	hsa-miR-3682-5p	CLIP-seq
MIRT2630080	hsa-miR-3685	CLIP-seq
MIRT2630081	hsa-miR-3916	CLIP-seq
MIRT2630082	hsa-miR-3941	CLIP-seq
MIRT2630083	hsa-miR-3945	CLIP-seq
MIRT2630084	hsa-miR-4253	CLIP-seq
MIRT1378447	hsa-miR-4257	CLIP-seq
MIRT2630085	hsa-miR-4262	CLIP-seq
MIRT2630086	hsa-miR-4263	CLIP-seq
MIRT2630087	hsa-miR-4275	CLIP-seq
MIRT2630088	hsa-miR-4282	CLIP-seq
MIRT2630089	hsa-miR-429	CLIP-seq
MIRT2630090	hsa-miR-4302	CLIP-seq
MIRT2394947	hsa-miR-4307	CLIP-seq
MIRT2630091	hsa-miR-4522	CLIP-seq
MIRT1378450	hsa-miR-4659a-3p	CLIP-seq
MIRT1378451	hsa-miR-4659b-3p	CLIP-seq
MIRT2630092	hsa-miR-4670-3p	CLIP-seq
MIRT1378452	hsa-miR-4678	CLIP-seq
MIRT2630093	hsa-miR-4694-3p	CLIP-seq
MIRT1378454	hsa-miR-4709-5p	CLIP-seq
MIRT2630094	hsa-miR-4713-5p	CLIP-seq
MIRT2630095	hsa-miR-4760-3p	CLIP-seq
MIRT2630096	hsa-miR-4762-3p	CLIP-seq
MIRT2630097	hsa-miR-4762-5p	CLIP-seq
MIRT2630098	hsa-miR-4772-3p	CLIP-seq
MIRT2630099	hsa-miR-4777-3p	CLIP-seq
MIRT2630100	hsa-miR-485-3p	CLIP-seq
MIRT2630101	hsa-miR-487a	CLIP-seq
MIRT2630102	hsa-miR-513a-3p	CLIP-seq
MIRT2112913	hsa-miR-520d-5p	CLIP-seq
MIRT2112914	hsa-miR-524-5p	CLIP-seq
MIRT2630103	hsa-miR-548c-3p	CLIP-seq
MIRT2630104	hsa-miR-548p	CLIP-seq
MIRT2630105	hsa-miR-576-5p	CLIP-seq
MIRT2630106	hsa-miR-584	CLIP-seq
MIRT2630107	hsa-miR-603	CLIP-seq
MIRT2630108	hsa-miR-616	CLIP-seq
MIRT2630109	hsa-miR-648	CLIP-seq
MIRT2630110	hsa-miR-875-5p	CLIP-seq
MIRT2630111	hsa-miR-942	CLIP-seq
MIRT2630059	hsa-miR-1207-3p	CLIP-seq
MIRT2630060	hsa-miR-1283	CLIP-seq
MIRT2630061	hsa-miR-181a	CLIP-seq
MIRT2630062	hsa-miR-181b	CLIP-seq
MIRT2630063	hsa-miR-181c	CLIP-seq
MIRT2630064	hsa-miR-181d	CLIP-seq
MIRT2630065	hsa-miR-200b	CLIP-seq
MIRT2630066	hsa-miR-200c	CLIP-seq
MIRT2630067	hsa-miR-2276	CLIP-seq
MIRT2630068	hsa-miR-2355-5p	CLIP-seq
MIRT2630069	hsa-miR-28-3p	CLIP-seq
MIRT2630071	hsa-miR-3127-3p	CLIP-seq
MIRT2630073	hsa-miR-329	CLIP-seq
MIRT2630076	hsa-miR-362-3p	CLIP-seq
MIRT2630079	hsa-miR-3680	CLIP-seq
MIRT2112912	hsa-miR-3682-5p	CLIP-seq
MIRT2630080	hsa-miR-3685	CLIP-seq
MIRT2630082	hsa-miR-3941	CLIP-seq
MIRT2630083	hsa-miR-3945	CLIP-seq
MIRT2630084	hsa-miR-4253	CLIP-seq
MIRT2630085	hsa-miR-4262	CLIP-seq
MIRT2630086	hsa-miR-4263	CLIP-seq
MIRT2630087	hsa-miR-4275	CLIP-seq
MIRT2630088	hsa-miR-4282	CLIP-seq
MIRT2630089	hsa-miR-429	CLIP-seq
MIRT2630090	hsa-miR-4302	CLIP-seq
MIRT2630091	hsa-miR-4522	CLIP-seq
MIRT1378450	hsa-miR-4659a-3p	CLIP-seq
MIRT1378451	hsa-miR-4659b-3p	CLIP-seq
MIRT2630092	hsa-miR-4670-3p	CLIP-seq
MIRT1378454	hsa-miR-4709-5p	CLIP-seq
MIRT2630095	hsa-miR-4760-3p	CLIP-seq
MIRT2630097	hsa-miR-4762-5p	CLIP-seq
MIRT2630098	hsa-miR-4772-3p	CLIP-seq
MIRT2630099	hsa-miR-4777-3p	CLIP-seq
MIRT2630100	hsa-miR-485-3p	CLIP-seq
MIRT2630101	hsa-miR-487a	CLIP-seq
MIRT2630102	hsa-miR-513a-3p	CLIP-seq
MIRT2112913	hsa-miR-520d-5p	CLIP-seq
MIRT2112914	hsa-miR-524-5p	CLIP-seq
MIRT2630103	hsa-miR-548c-3p	CLIP-seq
MIRT2630104	hsa-miR-548p	CLIP-seq
MIRT2630105	hsa-miR-576-5p	CLIP-seq
MIRT2630106	hsa-miR-584	CLIP-seq
MIRT2630107	hsa-miR-603	CLIP-seq
MIRT2630108	hsa-miR-616	CLIP-seq
MIRT2630109	hsa-miR-648	CLIP-seq
MIRT2630110	hsa-miR-875-5p	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	IBA
GO:0000062	Function	Fatty-acyl-CoA binding	IDA	16647063
GO:0004772	Function	Sterol O-acyltransferase activity	IDA	9756919
GO:0004772	Function	Sterol O-acyltransferase activity	IEA
GO:0004772	Function	Sterol O-acyltransferase activity	IMP	8407899, 9020103
GO:0005515	Function	Protein binding	IPI	21044950, 23169578, 28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IDA	10623671
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	17412327
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IDA	9756919
GO:0008203	Process	Cholesterol metabolic process	IDA	16647063, 18971559
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	8407899
GO:0008203	Process	Cholesterol metabolic process	TAS	24608080
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0010742	Process	Macrophage derived foam cell differentiation	IMP	8407899, 15353128
GO:0010742	Process	Macrophage derived foam cell differentiation	NAS	18971559
GO:0010878	Process	Cholesterol storage	IMP	8407899
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	16647063, 32433613, 32433614
GO:0016020	Component	Membrane	IDA	9756919
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IMP	15308631
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IMP	15308631
GO:0034383	Process	Low-density lipoprotein particle clearance	TAS
GO:0034736	Function	Cholesterol O-acyltransferase activity	IBA
GO:0034736	Function	Cholesterol O-acyltransferase activity	IDA	16647063, 32433613, 32433614
GO:0034736	Function	Cholesterol O-acyltransferase activity	IEA
GO:0034736	Function	Cholesterol O-acyltransferase activity	IMP	8407899
GO:0034736	Function	Cholesterol O-acyltransferase activity	TAS	24608080
GO:0042632	Process	Cholesterol homeostasis	IDA	32433614
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	TAS	11401500
GO:0042802	Function	Identical protein binding	IPI	32433613, 32433614
GO:0042986	Process	Positive regulation of amyloid precursor protein biosynthetic process	IMP	17412327

MIM	HGNC	e!Ensembl
102642	11177	ENSG00000057252

P35610

Protein name

Sterol O-acyltransferase 1 (EC 2.3.1.26) (Acyl-coenzyme A:cholesterol acyltransferase 1) (ACAT-1) (Cholesterol acyltransferase 1)

Protein function

Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol (PubMed:16154994, PubMed:16647063, PubMed:32433613, PubMed:32433614, PubMed:32944968, PubMed:9020103). Plays a role in lipoprotein ass

PDB

6L47 , 6L48 , 6P2J , 6P2P , 6VUM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03062	MBOAT	171 → 520	MBOAT, membrane-bound O-acyltransferase family	Family

Sequence

MVGEEKMSLRNRLSKSRENPEEDEDQRNPAKESLETPSNGRIDIKQLIAKKIKLTAEAEE
LKPFFMKEVGSHFDDFVTNLIEKSASLDNGGCALTTFSVLEGEKNNHRAKDLRAPPEQGK
IFIARRSLLDELLEVDHIRTIYHMFIALLILFILSTLVVDYIDEGRLVLEFSLLSYAFGK
FPTVVWTWWIMFLSTFSVPYFLFQHWATGYSKSSHPLIRSLFHGFLFMIFQIGVLGFGPT
YVVLAYTLPPASRFIIIFEQIRFVMKAHSFVRENVPRVLNSAKEKSSTVPIPTVNQYLYF
LFAPTLIYRDSYPRNPTVRWGYVAMKFAQVFGCFFYVYYIFERLCAPLFRNIKQEPFSAR
VLVLCVFNSILPGVLILFLTFFAFLHCWLNAFAEMLRFGDRMFYKDWWNSTSYSNYYRTW
NVVVHDWLYYYAYKDFLWFFSKRFKSAAMLAVFAVSAVVHEYALAVCLSFFYPVLFVLFM
FFGMAFNFIVNDSRKKPIWNVLMWTSLFLGNGVLLCFYSQEWYARQHCPLKNPTFLDYVR
PRSWTCRYVF

Sequence length

550

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Cholesterol metabolism		LDL clearance

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 Unknown Diseases (6)

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.
BENIGN NEOPLASM OF ADRENAL GLAND	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (337)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	14762685, 8634413, 9498707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	19120350, 26631987, 26859458, 28415601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12468433, 28513614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12127726, 21436577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27845189, 28719100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	17786371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29559623, 31407334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	30724425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	29474877, 29720169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32449514, 35409086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26631987, 26859458, 28415601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25925782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	11781246, 19734449, 21418178, 21791476, 23023715, 30696620, 31707975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16603085, 20697856, 31237072, 9391124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	30862449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27514747, 29097185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26305886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28214951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	10777503, 30318623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	30318623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17412327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23774792, 30390000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28715117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22571903, 31808852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28394822		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28351381, 28611107, 30737215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	26305886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10777503, 11264983, 16820149, 17726017, 19164812, 19189937, 27082829, 29179498, 29567472, 30354239, 31495784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29623147, 31401534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15496426, 29486764, 29542140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	35409086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	7959739, 8786135, 9205109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10777503, 11264983, 16820149, 17726017, 19164812, 19189937, 27082829, 29179498, 29567472, 30354239, 31495784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	11461099, 11529503, 16474185, 19189937, 23305686, 24028971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28158495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	31894294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28802860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30043354, 31811869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26301688, 27638904, 27803128, 28131742, 28255960, 28325211, 28394822, 28420002, 28620095, 29325110, 29850627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	22527947		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21418178, 25074913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	27711196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	25410656, 30861611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	1362011, 20046049, 29624230, 34001203, 40598206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	1979337	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta-ketothiolase deficiency	Beta-Ketothiolase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30482227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	9069288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10470819, 20336349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	17639043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17639043, 18497055, 21266853, 22198466, 22792362, 24728078, 24913037, 27500741, 28442393, 29138265, 29292214, 29934528, 30022447, 30186172, 30581487, 31066211, 31456189 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	29203970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10430944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33865459, 33990561, 34039309, 37957550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30482227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21216930, 22980976, 24135245, 26044560, 29298657, 30333870, 30622322, 31423222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	35399074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24028971, 25315187, 35633317, 38297313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	22006220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28448787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac Tamponade	Cardiac Tamponade	BEFREE	29280197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20217138, 31187710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24577316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	18715729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28096208, 30130813		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21935712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21935712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	25504635, 25696852, 26631987, 26859458, 28410228, 28415601, 31054507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	27711196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	25925782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	19695674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphoproliferative Disorder of NK-Cells	Lymphoproliferative Disorder Of Natural Killer Cells	BEFREE	29417693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	16834459, 18464114, 18779404, 20404132, 21245760, 21742423, 22227528, 22991927, 23382981, 23406773, 23560534, 24445766, 24740812, 24766055, 25572172 View all (18 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	BEFREE	25575036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28950251, 29233151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	25315187, 31777589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20133765, 31561750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30615095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25330801, 29793481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29793481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24317328, 27213918, 28154246, 29496555, 29793481, 30633978, 31372038, 31665031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29793481, 31949199, 34071236, 35172832, 39940954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	BEFREE	29147786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	30402832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29587261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11343970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31649873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Crystalline of Schnyder	Corneal dystrophy	Pubtator	23169578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29179498, 31364141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24577316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29179498, 29398326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	31684966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29179498, 31684966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21536720, 23950992, 27622767, 30615095, 31327403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	29720169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	CLINGEN_DG	11161836, 1346617, 1627655, 17236799, 24309898, 2893809, 36452, 8103405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	BEFREE	11161837, 11914035, 1362557, 15128923, 17719254, 18511318, 20156697, 23920042, 23958592, 27748876, 28255778, 31156707, 31268215, 7728148, 7749408, 8099727, 9744475 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	CLINVAR_DG	11914035, 1346617, 15128923, 17236799, 20046049, 20156697, 21669895, 24517888, 27264805, 27748876, 28220263, 28689740, 28726122, 31268215, 7728148, 7749408, 7907600 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	UNIPROT_DG	1346617, 1715688, 7728148, 9744475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	GENOMICS_ENGLAND_DG	1346617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	ORPHANET_DG	23430882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28245561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	17593314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29902157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	26100037, 27711196, 30964573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28555727, 30964573, 31122999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	30862449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34001203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20217138, 27834824, 28554737, 29191719, 30388616, 30575282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20217138, 27834824, 28554737, 29191719, 30388616, 30575282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30207748, 30665954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21536720, 25099943, 29398326, 29516520, 30627161, 31730866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27333885, 28554737, 30575282, 31154867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	18755494, 24581222, 25124685, 26258272, 26691987, 26819451, 30209389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	17068151, 19120350, 26373433, 26631987, 26881131, 30775947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	10777503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	9887329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	26100037, 27711196, 30964573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16728588, 18988190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	26854024, 29943210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	21694534, 27310888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29305092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31671695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31671695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal dyskinesia	Extrapyramidal dyskinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	28448764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	21826217		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21826217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	20815019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	31165043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	21622209, 24657401, 28154170, 28871140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gm1 gangliosidosis	Pubtator	20157782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	25987131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	26027833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18436822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15937643, 25482928, 29348882, 30279739, 31186414, 31646241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20404512, 35409086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15937643, 25482928, 29348882, 30279739, 30811476, 31186414, 31646241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20404512, 37980334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21791085, 22555804, 28443896, 30232656, 30357574, 31377983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	28484265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28484267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30615095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	22527947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	15578920, 22194600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11343970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	26432382, 27901106, 29262601, 30343103, 31072879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	17068151, 23812420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	29148847, 29199995, 29417693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic methionine adenosyltransferase deficiency	Hepatic Methionine Adenosyltransferase Deficiency	BEFREE	21308989, 25557781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	12601549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11781246, 19734449, 21418178, 21791476, 23023715, 30696620, 31707975, 9926251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29549095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29793481, 31730866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	29793481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	10777503, 15158756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	22243772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36626481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	19112833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25514189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	23386060, 28802860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25548172, 28131742, 28217557, 28255960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17593314, 20133765, 29453986, 31561750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	15128923, 20156697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28164724, 28804910, 30950344, 31634529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	24812670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	16950638, 28689740, 31228515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	28659618, 30817557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28554737, 31591147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19878707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	BEFREE	10102076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	19112833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	38273053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10441338, 10851050, 14722044, 15578097, 23812420, 28744013, 29148541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	23515927, 23596048, 29148541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11722592, 12468433, 16828865, 17128418, 22740448, 23812420, 27034432, 28513614, 29235481, 29239838, 29426862, 31677846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	29280197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16364242, 16603085, 28214593, 30076146, 9557732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	31236660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11326271, 12076863, 19321929, 20815019, 23788652, 25096061, 25925782, 26701727, 28100771, 29371942, 29991871, 30600408, 30654066, 30814741, 31401087 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	30600408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21835143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38149558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	BEFREE	27711196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21980035, 27665947, 28830352, 30171347, 30572141, 31443172, 31790472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29793481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21418178, 26123794, 27367207, 28214593, 28659618, 29666362, 29728695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	36436934	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Extranodal NK-T-Cell	Lymphoma	BEFREE	31822801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11781246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	11675351, 12543077, 27144517, 30198914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	31577659, 31741284, 31833567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	31710506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25482928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	15578920, 22194600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17639043, 18497055, 21266853, 22198466, 22792362, 24728078, 24913037, 27500741, 28442393, 29138265, 29292214, 29934528, 30022447, 30186172, 30581487, 31066211, 31456189 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16728588, 18988190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31671695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	19321929, 25925782, 29141455, 31099097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21216930, 22980976, 24135245, 26044560, 29298657, 30333870, 30622322, 31423222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28448787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15121754, 24572992, 26682870, 28405527, 30115734, 30226611, 30557977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22542949, 23824741, 25604141, 28595267, 29441069, 30264470, 31294537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26398764, 29034543, 30367831, 31130822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30482227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11948098, 12865928, 14580692, 15469392, 15578920, 16475943, 17068151, 17873904, 18291658, 18492237, 19239328, 19851315, 21266853, 21622220, 22555804 View all (44 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	28991373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21935712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25330801, 29793481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28875337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	29939445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31707975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	20570039		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10699955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10470819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29902157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31228515		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	30650179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	26122121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29902157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10023775, 14726660, 23454584, 24151609, 28369102, 28645562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	14760959, 19398961, 27713030, 28094337, 28103257, 29514694, 30917537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular dystrophy congenital, merosin negative	Congenital Muscular Dystrophy	BEFREE	28334989		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22258937, 24244432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	17133099, 25189730, 27114459, 27756071, 28072602, 28799436, 30210754, 30718771, 31228096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16572323, 21091189, 23725755, 23806289, 30072211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16410451, 17133099, 18429051, 18464114, 20445018, 21245760, 21742423, 23748344, 24740812, 24766055, 24786775, 26356819, 28072602, 28232469, 28331226 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24906453, 26100218, 29756512, 31152695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31364141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	25980440, 28284718, 29674644, 29966370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	10430944, 20338061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10441338, 10470819, 12374673, 12438264, 16036105, 16082218, 17764563, 18768494, 18769447, 19421717, 19851315, 20018890, 20606045, 24703811, 24818725 View all (32 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	1855077, 29207662, 30541014		★★★★★ ★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	26904939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	19360318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22296367, 23962256, 24274066, 29455644, 30622322, 31173242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	20815019, 31496615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23109900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29191719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	28951225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral aversion	Oral aversion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28782829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28061797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32862606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28448787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31978092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24572992, 26682870, 28405527, 30115734, 30226611, 30557977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28611107, 30737215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	28496202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27713030, 31594876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28134252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	25827714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	22038029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28104302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	17267906, 18623127, 28948454, 31228096, 31600213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	20505761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	27777238, 29487712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27151993, 28744013, 30185437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	26394269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	19088064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	17133099, 25189730, 26573090, 27114459, 27756071, 28072602, 28185911, 28799436, 28948454, 30210754, 30213875, 30343103, 30718771, 31228096, 31600213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	31978092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11141475, 22542949, 23824741, 25604141, 29441069, 30264470, 31294537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18000807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23443136, 36517760	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28595267, 28877685, 33103371, 33298586, 33509203, 34326474, 36517760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	20054338, 27711196, 28394822, 28420002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	38273053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	15466366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30372846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27834824, 30239835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	27711196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	22188913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18269457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30526546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	24797343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21548952, 22753649, 23622344, 24525913, 25847223, 28245561, 28833093, 30075427, 30930172, 31181818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	22984568, 26579569, 31185230		★★★★★ ★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	28008177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	23036162, 28404756, 29455109, 30229837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	16264332, 7659163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	26415585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Ventricle Defect	Single Ventricle Defect	BEFREE	29147786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	26100037, 29203970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27845189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	28394822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24953650, 27035095, 29938858, 30809930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28714361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36444610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30185657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16432158, 23670291, 25857630, 30259648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26398764, 29034543, 30367831, 31130822		★★★★★ ★☆☆☆☆ Found in Text Mining only
STUVE-WIEDEMANN SYNDROME	Stuve-Wiedemann syndrome	BEFREE	19603067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	21548952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	28331226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22173230		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	23515927, 27715403, 28128670, 29417693		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	23609016, 28134252, 28182501, 28548121		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	26917488, 28324286, 28804127, 31766351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	21123557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	20058203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	17133099, 18623127, 24301930, 26573090, 30558676, 30926777, 31600213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	31237218, 31268042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29969659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25365225, 29933930, 31529195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	21308989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	23446770, 30285500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37954600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	BEFREE	25639359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	25639359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19134193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis of large artery	Vasculitis	BEFREE	29254929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	23266720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	31078730, 31781265		★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	31078730, 31781265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	23532735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	BEFREE	10777503, 30354239		★★★★★ ★☆☆☆☆ Found in Text Mining only

SOAT1 (sterol O-acyltransferase 1)