DGAT1 (diacylglycerol O-acyltransferase 1)

Gene

• Entrez ID: 8694
• Gene name: Diacylglycerol O-acyltransferase 1
• Gene symbol: DGAT1
• Synonyms (NCBI Gene): ARAT, ARGP1, DGAT, DIAR7
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activit

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554847009	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1588689245	C>-	Pathogenic	Frameshift variant, initiator codon variant, upstream transcript variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006524	hsa-miR-125b-5p	Luciferase reporter assay	19635812
MIRT006524	hsa-miR-125b-5p	Luciferase reporter assay	19635812
MIRT006524	hsa-miR-125b-5p	Luciferase reporter assay	19635812
MIRT006524	hsa-miR-125b-5p	Luciferase reporter assay	19635812
MIRT029044	hsa-miR-26b-5p	Microarray	19088304
MIRT047045	hsa-miR-183-5p	CLASH	23622248
MIRT042201	hsa-miR-484	CLASH	23622248
MIRT723335	hsa-miR-10a-5p	HITS-CLIP	19536157
MIRT723334	hsa-miR-10b-5p	HITS-CLIP	19536157
MIRT723333	hsa-miR-6871-3p	HITS-CLIP	19536157
MIRT723332	hsa-miR-6858-3p	HITS-CLIP	19536157
MIRT723331	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT723330	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT723329	hsa-miR-4769-3p	HITS-CLIP	19536157
MIRT723328	hsa-miR-6817-5p	HITS-CLIP	19536157
MIRT723327	hsa-miR-4727-5p	HITS-CLIP	19536157
MIRT723326	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT723325	hsa-miR-544a	HITS-CLIP	19536157
MIRT723324	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT529866	hsa-miR-5197-3p	PAR-CLIP	22012620
MIRT529867	hsa-miR-2278	PAR-CLIP	22012620
MIRT529864	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT529865	hsa-miR-548q	PAR-CLIP	22012620
MIRT529862	hsa-miR-4468	PAR-CLIP	22012620
MIRT723335	hsa-miR-10a-5p	HITS-CLIP	19536157
MIRT723334	hsa-miR-10b-5p	HITS-CLIP	19536157
MIRT723333	hsa-miR-6871-3p	HITS-CLIP	19536157
MIRT723332	hsa-miR-6858-3p	HITS-CLIP	19536157
MIRT723331	hsa-miR-3620-3p	HITS-CLIP	19536157
MIRT723330	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT723329	hsa-miR-4769-3p	HITS-CLIP	19536157
MIRT723328	hsa-miR-6817-5p	HITS-CLIP	19536157
MIRT723327	hsa-miR-4727-5p	HITS-CLIP	19536157
MIRT723326	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT723325	hsa-miR-544a	HITS-CLIP	19536157
MIRT723324	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT529866	hsa-miR-5197-3p	PAR-CLIP	22012620
MIRT529867	hsa-miR-2278	PAR-CLIP	22012620
MIRT529864	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT529865	hsa-miR-548q	PAR-CLIP	22012620
MIRT529862	hsa-miR-4468	PAR-CLIP	22012620
MIRT756174	hsa-miR-122-5p	Luciferase reporter assay, Western blotting, qRT-PCR, RNA pull down assay	36674813
MIRT933522	hsa-miR-10a	CLIP-seq
MIRT933523	hsa-miR-10b	CLIP-seq
MIRT933524	hsa-miR-1207-3p	CLIP-seq
MIRT933525	hsa-miR-1207-5p	CLIP-seq
MIRT933526	hsa-miR-125a-3p	CLIP-seq
MIRT933527	hsa-miR-125a-5p	CLIP-seq
MIRT933528	hsa-miR-125b	CLIP-seq
MIRT933529	hsa-miR-128	CLIP-seq
MIRT933530	hsa-miR-1286	CLIP-seq
MIRT933531	hsa-miR-1290	CLIP-seq
MIRT933532	hsa-miR-1343	CLIP-seq
MIRT933533	hsa-miR-1909	CLIP-seq
MIRT933534	hsa-miR-1910	CLIP-seq
MIRT933535	hsa-miR-1914	CLIP-seq
MIRT933536	hsa-miR-214	CLIP-seq
MIRT933537	hsa-miR-2355-5p	CLIP-seq
MIRT933538	hsa-miR-299-3p	CLIP-seq
MIRT933539	hsa-miR-3167	CLIP-seq
MIRT933540	hsa-miR-3180	CLIP-seq
MIRT933541	hsa-miR-3180-3p	CLIP-seq
MIRT933542	hsa-miR-3184	CLIP-seq
MIRT933543	hsa-miR-3196	CLIP-seq
MIRT933544	hsa-miR-329	CLIP-seq
MIRT933545	hsa-miR-331-3p	CLIP-seq
MIRT933546	hsa-miR-342-5p	CLIP-seq
MIRT933547	hsa-miR-3619-5p	CLIP-seq
MIRT933548	hsa-miR-362-3p	CLIP-seq
MIRT933549	hsa-miR-3649	CLIP-seq
MIRT933550	hsa-miR-3654	CLIP-seq
MIRT933551	hsa-miR-3681	CLIP-seq
MIRT933552	hsa-miR-371-5p	CLIP-seq
MIRT933553	hsa-miR-3917	CLIP-seq
MIRT933554	hsa-miR-3918	CLIP-seq
MIRT933555	hsa-miR-3941	CLIP-seq
MIRT933556	hsa-miR-3944-5p	CLIP-seq
MIRT933557	hsa-miR-423-5p	CLIP-seq
MIRT933558	hsa-miR-4291	CLIP-seq
MIRT933559	hsa-miR-4319	CLIP-seq
MIRT933560	hsa-miR-4432	CLIP-seq
MIRT933561	hsa-miR-4436a	CLIP-seq
MIRT933562	hsa-miR-4502	CLIP-seq
MIRT933563	hsa-miR-4512	CLIP-seq
MIRT933564	hsa-miR-451b	CLIP-seq
MIRT933565	hsa-miR-4520a-3p	CLIP-seq
MIRT933566	hsa-miR-4532	CLIP-seq
MIRT933567	hsa-miR-4638-3p	CLIP-seq
MIRT933568	hsa-miR-4641	CLIP-seq
MIRT933569	hsa-miR-4642	CLIP-seq
MIRT933570	hsa-miR-466	CLIP-seq
MIRT933571	hsa-miR-4664-5p	CLIP-seq
MIRT933572	hsa-miR-4672	CLIP-seq
MIRT933573	hsa-miR-4696	CLIP-seq
MIRT933574	hsa-miR-4706	CLIP-seq
MIRT933575	hsa-miR-4711-5p	CLIP-seq
MIRT933576	hsa-miR-4720-5p	CLIP-seq
MIRT933577	hsa-miR-4722-5p	CLIP-seq
MIRT933578	hsa-miR-4725-5p	CLIP-seq
MIRT933579	hsa-miR-4731-3p	CLIP-seq
MIRT933580	hsa-miR-4732-3p	CLIP-seq
MIRT933581	hsa-miR-4749-5p	CLIP-seq
MIRT933582	hsa-miR-4755-3p	CLIP-seq
MIRT933583	hsa-miR-4761-5p	CLIP-seq
MIRT933584	hsa-miR-4763-3p	CLIP-seq
MIRT933585	hsa-miR-4789-5p	CLIP-seq
MIRT933586	hsa-miR-4799-3p	CLIP-seq
MIRT933587	hsa-miR-4801	CLIP-seq
MIRT933588	hsa-miR-486-3p	CLIP-seq
MIRT933589	hsa-miR-504	CLIP-seq
MIRT933590	hsa-miR-511	CLIP-seq
MIRT933591	hsa-miR-544	CLIP-seq
MIRT933592	hsa-miR-544b	CLIP-seq
MIRT933593	hsa-miR-545	CLIP-seq
MIRT933594	hsa-miR-552	CLIP-seq
MIRT933595	hsa-miR-603	CLIP-seq
MIRT933596	hsa-miR-628-5p	CLIP-seq
MIRT933597	hsa-miR-657	CLIP-seq
MIRT933598	hsa-miR-670	CLIP-seq
MIRT933599	hsa-miR-744	CLIP-seq
MIRT933600	hsa-miR-761	CLIP-seq
MIRT933601	hsa-miR-876-5p	CLIP-seq
MIRT933602	hsa-miR-922	CLIP-seq
MIRT933524	hsa-miR-1207-3p	CLIP-seq
MIRT933525	hsa-miR-1207-5p	CLIP-seq
MIRT1976358	hsa-miR-3189-5p	CLIP-seq
MIRT933553	hsa-miR-3917	CLIP-seq
MIRT1976359	hsa-miR-4323	CLIP-seq
MIRT933560	hsa-miR-4432	CLIP-seq
MIRT1976360	hsa-miR-4494	CLIP-seq
MIRT933564	hsa-miR-451b	CLIP-seq
MIRT933566	hsa-miR-4532	CLIP-seq
MIRT1976361	hsa-miR-4640-3p	CLIP-seq
MIRT933569	hsa-miR-4642	CLIP-seq
MIRT933573	hsa-miR-4696	CLIP-seq
MIRT933575	hsa-miR-4711-5p	CLIP-seq
MIRT933576	hsa-miR-4720-5p	CLIP-seq
MIRT933584	hsa-miR-4763-3p	CLIP-seq
MIRT933586	hsa-miR-4799-3p	CLIP-seq
MIRT933588	hsa-miR-486-3p	CLIP-seq
MIRT1976362	hsa-miR-499a-5p	CLIP-seq
MIRT933593	hsa-miR-545	CLIP-seq
MIRT1976363	hsa-miR-626	CLIP-seq
MIRT1976364	hsa-miR-892a	CLIP-seq
MIRT2211782	hsa-miR-218	CLIP-seq
MIRT2211783	hsa-miR-2467-3p	CLIP-seq
MIRT2211784	hsa-miR-338-3p	CLIP-seq
MIRT2211785	hsa-miR-3616-3p	CLIP-seq
MIRT2211786	hsa-miR-3714	CLIP-seq
MIRT933554	hsa-miR-3918	CLIP-seq
MIRT2211787	hsa-miR-4277	CLIP-seq
MIRT2211788	hsa-miR-4327	CLIP-seq
MIRT933563	hsa-miR-4512	CLIP-seq
MIRT2211789	hsa-miR-4650-5p	CLIP-seq
MIRT2211790	hsa-miR-4708-3p	CLIP-seq
MIRT2211791	hsa-miR-4733-3p	CLIP-seq
MIRT2211792	hsa-miR-634	CLIP-seq
MIRT2211793	hsa-miR-636	CLIP-seq
MIRT2211794	hsa-miR-940	CLIP-seq
MIRT933576	hsa-miR-4720-5p	CLIP-seq
MIRT933586	hsa-miR-4799-3p	CLIP-seq
MIRT933588	hsa-miR-486-3p	CLIP-seq
MIRT2448172	hsa-miR-1324	CLIP-seq
MIRT2448173	hsa-miR-3155	CLIP-seq
MIRT2448174	hsa-miR-3155b	CLIP-seq
MIRT2448175	hsa-miR-4438	CLIP-seq
MIRT2448176	hsa-miR-4514	CLIP-seq
MIRT2448177	hsa-miR-4692	CLIP-seq
MIRT2448178	hsa-miR-4756-3p	CLIP-seq
MIRT2448172	hsa-miR-1324	CLIP-seq
MIRT2448173	hsa-miR-3155	CLIP-seq
MIRT2448174	hsa-miR-3155b	CLIP-seq
MIRT2448175	hsa-miR-4438	CLIP-seq
MIRT2448176	hsa-miR-4514	CLIP-seq
MIRT2448177	hsa-miR-4692	CLIP-seq
MIRT2448178	hsa-miR-4756-3p	CLIP-seq
MIRT933524	hsa-miR-1207-3p	CLIP-seq
MIRT2515572	hsa-miR-1253	CLIP-seq
MIRT2515573	hsa-miR-1254	CLIP-seq
MIRT933526	hsa-miR-125a-3p	CLIP-seq
MIRT2515574	hsa-miR-3116	CLIP-seq
MIRT2515575	hsa-miR-3176	CLIP-seq
MIRT2515576	hsa-miR-346	CLIP-seq
MIRT2515577	hsa-miR-3922-3p	CLIP-seq
MIRT2515578	hsa-miR-3934	CLIP-seq
MIRT933556	hsa-miR-3944-5p	CLIP-seq
MIRT2515579	hsa-miR-4325	CLIP-seq
MIRT2515580	hsa-miR-4488	CLIP-seq
MIRT2515581	hsa-miR-4697-5p	CLIP-seq
MIRT933576	hsa-miR-4720-5p	CLIP-seq
MIRT933582	hsa-miR-4755-3p	CLIP-seq
MIRT2515582	hsa-miR-4786-3p	CLIP-seq
MIRT933586	hsa-miR-4799-3p	CLIP-seq
MIRT2515583	hsa-miR-661	CLIP-seq
MIRT2515584	hsa-miR-764	CLIP-seq
MIRT933524	hsa-miR-1207-3p	CLIP-seq
MIRT933525	hsa-miR-1207-5p	CLIP-seq
MIRT2679241	hsa-miR-1231	CLIP-seq
MIRT2515572	hsa-miR-1253	CLIP-seq
MIRT933526	hsa-miR-125a-3p	CLIP-seq
MIRT2515575	hsa-miR-3176	CLIP-seq
MIRT2679242	hsa-miR-370	CLIP-seq
MIRT933553	hsa-miR-3917	CLIP-seq
MIRT2515577	hsa-miR-3922-3p	CLIP-seq
MIRT2515578	hsa-miR-3934	CLIP-seq
MIRT933556	hsa-miR-3944-5p	CLIP-seq
MIRT933560	hsa-miR-4432	CLIP-seq
MIRT1976360	hsa-miR-4494	CLIP-seq
MIRT933564	hsa-miR-451b	CLIP-seq
MIRT933566	hsa-miR-4532	CLIP-seq
MIRT933569	hsa-miR-4642	CLIP-seq
MIRT933573	hsa-miR-4696	CLIP-seq
MIRT2679243	hsa-miR-4711-3p	CLIP-seq
MIRT933575	hsa-miR-4711-5p	CLIP-seq
MIRT933576	hsa-miR-4720-5p	CLIP-seq
MIRT933582	hsa-miR-4755-3p	CLIP-seq
MIRT933584	hsa-miR-4763-3p	CLIP-seq
MIRT2515582	hsa-miR-4786-3p	CLIP-seq
MIRT933586	hsa-miR-4799-3p	CLIP-seq
MIRT933588	hsa-miR-486-3p	CLIP-seq
MIRT1976362	hsa-miR-499a-5p	CLIP-seq
MIRT933593	hsa-miR-545	CLIP-seq
MIRT1976363	hsa-miR-626	CLIP-seq
MIRT2515584	hsa-miR-764	CLIP-seq
MIRT1976364	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0003846	Function	2-acylglycerol O-acyltransferase activity	IEA
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IBA
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IDA	18458083, 32433610, 32433611
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IEA
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	TAS	9789033
GO:0005515	Function	Protein binding	IPI	23420847
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006640	Process	Monoacylglycerol biosynthetic process	IDA	28420705
GO:0006640	Process	Monoacylglycerol biosynthetic process	IEA
GO:0006641	Process	Triglyceride metabolic process	TAS	9756920
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0016020	Component	Membrane	IDA	32433610, 32433611
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016746	Function	Acyltransferase activity	TAS	9756920
GO:0019432	Process	Triglyceride biosynthetic process	IBA
GO:0019432	Process	Triglyceride biosynthetic process	IDA	18458083
GO:0019432	Process	Triglyceride biosynthetic process	IDA	18238778, 32433610, 32433611
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0019915	Process	Lipid storage	ISS
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IMP	15308631
GO:0035336	Process	Long-chain fatty-acyl-CoA metabolic process	IEA
GO:0035336	Process	Long-chain fatty-acyl-CoA metabolic process	ISS
GO:0035579	Component	Specific granule membrane	TAS
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	32433610, 32433611
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0046339	Process	Diacylglycerol metabolic process	IDA	32433610, 32433611
GO:0046339	Process	Diacylglycerol metabolic process	IEA
GO:0046339	Process	Diacylglycerol metabolic process	ISS
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0050252	Function	Retinol O-fatty-acyltransferase activity	IEA
GO:0055089	Process	Fatty acid homeostasis	IEA

Other IDs

• MIM: 604900
• HGNC: 2843
• e!Ensembl: ENSG00000185000

Protein

• UniProt ID: O75907
• Protein name: Diacylglycerol O-acyltransferase 1 (EC 2.3.1.20) (ACAT-related gene product 1) (Acyl-CoA retinol O-fatty-acyltransferase) (ARAT) (Retinol O-fatty-acyltransferase) (EC 2.3.1.76) (Diglyceride acyltransferase)
• Protein function: Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates (PubMed:16214399, PubMed:18768481, PubMed:28420705, PubMed:32433610, PubMed:32433611, PubMed:9756920). Highly ex
• PDB: 6VP0, 6VYI, 6VZ1, 8ESM, 8ETM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03062	MBOAT	153 → 474	MBOAT, membrane-bound O-acyltransferase family	Family

• Sequence:

  MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVG
  SGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQV
  VSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPA
  AVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHT
  VSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWM
  VPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREF
  YRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFFHEYLVS
  VPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLN
  YEAPAAEA

• Sequence length: 488

Pathways

KEGG:

Glycerolipid metabolism
Retinol metabolism
Metabolic pathways
Fat digestion and absorption

Reactome:

Acyl chain remodeling of DAG and TAG
Neutrophil degranulation
Triglyceride biosynthesis

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
Clear cell carcinoma of kidney	Pathogenic	rs148665132	RCV005886889	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs148665132	RCV005886888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital diarrhea 7 with exudative enteropathy	Likely pathogenic; Pathogenic	rs781984305, rs148665132, rs372817613, rs2130518888, rs2488972713, rs782257835, rs863225093, rs2488949615, rs1554847269, rs1817352625, rs2488948192, rs782227374, rs371489225, rs1554847009, rs782577883, rs781934305, rs1588680049, rs1200919286, rs1554847435, rs1588689245	RCV003315272 RCV000128413 RCV002249860 RCV002249861 RCV002283911 RCV002463474 RCV000201459 RCV003315219 RCV005859367 RCV005047753 RCV006249896 RCV002463449 RCV002463454 RCV002463455 RCV000660629 RCV000844890 RCV000844891 RCV000988126 RCV000988127 RCV001007932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DGAT1-related disorder	Pathogenic; Likely pathogenic	rs148665132, rs1554847269	RCV004755776 RCV003402939	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs781934305	RCV005906922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs1554847269	RCV005932797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSENTERY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ 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; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	15569818		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29104532		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21924378		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21924378		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35764091	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35764091, 36728187	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37705049	Associate	★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25157099		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26883093		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	24262292	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26883093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	26883093	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26493024	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15569818, 21990351, 26493024, 31331203, 31694081		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	29604290, 33261563, 36315449	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	36315449	Associate	★☆☆☆☆ Found in Text Mining only
Dysentery	Dysentery	Pubtator	29604290	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	BEFREE	25997070		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	15569818, 17618857, 29024407, 31081165		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30790345		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36603576	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36465658	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36315449	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	25157099		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	27855567		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	33261563	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36084349	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36084349	Associate	★☆☆☆☆ Found in Text Mining only
Lipid Metabolism, Inborn Errors	Lipid Metabolism, Inborn Errors	BEFREE	26883093		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	26493024	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31652233		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31652233		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31652233		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31652233		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	29604290		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28877685, 30816200		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31778854		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	18183944, 21990351, 26883093, 29456796		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26493024, 26883093	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36084349	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36603576	Inhibit	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	33750350	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30816200		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17671740		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11956242, 15569818, 16306352, 18183944, 21990351, 24262292, 25157099, 26493024, 26883093, 28498655, 29699923		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	14569040, 26493024, 26883093, 30816200	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28541534	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	40554491	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28877685, 30816200		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28877685, 30816200, 33824421	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30816200		★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	BEFREE	26883093, 31315900		★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15569818, 17618857, 29024407, 30192394, 31081165		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33750350	Associate	★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only