DLAT (dihydrolipoamide S-acetyltransferase)

Gene

• Entrez ID: 1737
• Gene name: Dihydrolipoamide S-acetyltransferase
• Gene symbol: DLAT
• Synonyms (NCBI Gene): DLTA, E2, PBC, PDC-E2, PDCE2
• Chromosome: 11
• Chromosome location: 11q23.1
• Summary: This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acet

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138505899	T>G	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs140678772	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs367875541	G>A	Likely-pathogenic	Splice acceptor variant
rs781936816	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs782070173	T>C	Likely-pathogenic	Splice donor variant
rs782704553	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs797044957	T>G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032242	hsa-let-7b-5p	Proteomics	18668040
MIRT047485	hsa-miR-10b-5p	CLASH	23622248
MIRT040451	hsa-miR-615-3p	CLASH	23622248
MIRT447438	hsa-miR-5192	PAR-CLIP	22100165
MIRT447439	hsa-miR-6731-5p	PAR-CLIP	22100165
MIRT447437	hsa-miR-8085	PAR-CLIP	22100165
MIRT447438	hsa-miR-5192	PAR-CLIP	22100165
MIRT447439	hsa-miR-6731-5p	PAR-CLIP	22100165
MIRT447437	hsa-miR-8085	PAR-CLIP	22100165
MIRT755559	hsa-miR-122-5p	Luciferase reporter assay	38144299
MIRT937712	hsa-miR-1262	CLIP-seq
MIRT937713	hsa-miR-1271	CLIP-seq
MIRT937714	hsa-miR-129-3p	CLIP-seq
MIRT937715	hsa-miR-1324	CLIP-seq
MIRT937716	hsa-miR-182	CLIP-seq
MIRT937717	hsa-miR-2053	CLIP-seq
MIRT937718	hsa-miR-2054	CLIP-seq
MIRT937719	hsa-miR-3122	CLIP-seq
MIRT937720	hsa-miR-3127-5p	CLIP-seq
MIRT937721	hsa-miR-3177-5p	CLIP-seq
MIRT937722	hsa-miR-3192	CLIP-seq
MIRT937723	hsa-miR-320a	CLIP-seq
MIRT937724	hsa-miR-320b	CLIP-seq
MIRT937725	hsa-miR-320c	CLIP-seq
MIRT937726	hsa-miR-320d	CLIP-seq
MIRT937727	hsa-miR-338-5p	CLIP-seq
MIRT937728	hsa-miR-340	CLIP-seq
MIRT937729	hsa-miR-361-3p	CLIP-seq
MIRT937730	hsa-miR-3616-5p	CLIP-seq
MIRT937731	hsa-miR-3647-5p	CLIP-seq
MIRT937732	hsa-miR-365	CLIP-seq
MIRT937733	hsa-miR-3653	CLIP-seq
MIRT937734	hsa-miR-3658	CLIP-seq
MIRT937735	hsa-miR-3661	CLIP-seq
MIRT937736	hsa-miR-3679-3p	CLIP-seq
MIRT937737	hsa-miR-380	CLIP-seq
MIRT937738	hsa-miR-3913-5p	CLIP-seq
MIRT937739	hsa-miR-3922-5p	CLIP-seq
MIRT937740	hsa-miR-3942-3p	CLIP-seq
MIRT937741	hsa-miR-4282	CLIP-seq
MIRT937742	hsa-miR-4302	CLIP-seq
MIRT937743	hsa-miR-4422	CLIP-seq
MIRT937744	hsa-miR-4424	CLIP-seq
MIRT937745	hsa-miR-4429	CLIP-seq
MIRT937746	hsa-miR-4455	CLIP-seq
MIRT937747	hsa-miR-4477a	CLIP-seq
MIRT937748	hsa-miR-4489	CLIP-seq
MIRT937749	hsa-miR-4509	CLIP-seq
MIRT937750	hsa-miR-450b-3p	CLIP-seq
MIRT937751	hsa-miR-4528	CLIP-seq
MIRT937752	hsa-miR-4635	CLIP-seq
MIRT937753	hsa-miR-4641	CLIP-seq
MIRT937754	hsa-miR-4666-5p	CLIP-seq
MIRT937755	hsa-miR-4670-3p	CLIP-seq
MIRT937756	hsa-miR-4694-3p	CLIP-seq
MIRT937757	hsa-miR-4701-3p	CLIP-seq
MIRT937758	hsa-miR-4708-3p	CLIP-seq
MIRT937759	hsa-miR-4717-5p	CLIP-seq
MIRT937760	hsa-miR-4728-3p	CLIP-seq
MIRT937761	hsa-miR-4744	CLIP-seq
MIRT937762	hsa-miR-4753-5p	CLIP-seq
MIRT937763	hsa-miR-4761-5p	CLIP-seq
MIRT937764	hsa-miR-4764-3p	CLIP-seq
MIRT937765	hsa-miR-4799-5p	CLIP-seq
MIRT937766	hsa-miR-498	CLIP-seq
MIRT937767	hsa-miR-502-5p	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT937769	hsa-miR-522	CLIP-seq
MIRT937770	hsa-miR-526b	CLIP-seq
MIRT937771	hsa-miR-548a-5p	CLIP-seq
MIRT937772	hsa-miR-548ab	CLIP-seq
MIRT937773	hsa-miR-548ak	CLIP-seq
MIRT937774	hsa-miR-548b-5p	CLIP-seq
MIRT937775	hsa-miR-548c-3p	CLIP-seq
MIRT937776	hsa-miR-548c-5p	CLIP-seq
MIRT937777	hsa-miR-548d-5p	CLIP-seq
MIRT937778	hsa-miR-548h	CLIP-seq
MIRT937779	hsa-miR-548i	CLIP-seq
MIRT937780	hsa-miR-548j	CLIP-seq
MIRT937781	hsa-miR-548k	CLIP-seq
MIRT937782	hsa-miR-548l	CLIP-seq
MIRT937783	hsa-miR-548w	CLIP-seq
MIRT937784	hsa-miR-548y	CLIP-seq
MIRT937785	hsa-miR-559	CLIP-seq
MIRT937786	hsa-miR-573	CLIP-seq
MIRT937787	hsa-miR-581	CLIP-seq
MIRT937788	hsa-miR-587	CLIP-seq
MIRT937789	hsa-miR-609	CLIP-seq
MIRT937790	hsa-miR-628-5p	CLIP-seq
MIRT937791	hsa-miR-631	CLIP-seq
MIRT937792	hsa-miR-769-3p	CLIP-seq
MIRT937793	hsa-miR-96	CLIP-seq
MIRT1977564	hsa-miR-1207-3p	CLIP-seq
MIRT937713	hsa-miR-1271	CLIP-seq
MIRT937716	hsa-miR-182	CLIP-seq
MIRT1977565	hsa-miR-2682	CLIP-seq
MIRT1977566	hsa-miR-3125	CLIP-seq
MIRT1977567	hsa-miR-325	CLIP-seq
MIRT937727	hsa-miR-338-5p	CLIP-seq
MIRT1977568	hsa-miR-3685	CLIP-seq
MIRT1977569	hsa-miR-384	CLIP-seq
MIRT1977570	hsa-miR-3916	CLIP-seq
MIRT1977571	hsa-miR-3920	CLIP-seq
MIRT937739	hsa-miR-3922-5p	CLIP-seq
MIRT937740	hsa-miR-3942-3p	CLIP-seq
MIRT1977572	hsa-miR-4299	CLIP-seq
MIRT1977573	hsa-miR-4456	CLIP-seq
MIRT937747	hsa-miR-4477a	CLIP-seq
MIRT1977574	hsa-miR-449c	CLIP-seq
MIRT937758	hsa-miR-4708-3p	CLIP-seq
MIRT937759	hsa-miR-4717-5p	CLIP-seq
MIRT937762	hsa-miR-4753-5p	CLIP-seq
MIRT1977575	hsa-miR-4768-5p	CLIP-seq
MIRT1977576	hsa-miR-487b	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT1977577	hsa-miR-548q	CLIP-seq
MIRT1977578	hsa-miR-618	CLIP-seq
MIRT1977579	hsa-miR-628-3p	CLIP-seq
MIRT1977580	hsa-miR-802	CLIP-seq
MIRT1977581	hsa-miR-877	CLIP-seq
MIRT1977582	hsa-miR-940	CLIP-seq
MIRT937793	hsa-miR-96	CLIP-seq
MIRT2212843	hsa-miR-1179	CLIP-seq
MIRT2212844	hsa-miR-1256	CLIP-seq
MIRT2212845	hsa-miR-128	CLIP-seq
MIRT2212846	hsa-miR-3145-5p	CLIP-seq
MIRT2212847	hsa-miR-3692	CLIP-seq
MIRT937739	hsa-miR-3922-5p	CLIP-seq
MIRT2212848	hsa-miR-4503	CLIP-seq
MIRT2212849	hsa-miR-4642	CLIP-seq
MIRT937756	hsa-miR-4694-3p	CLIP-seq
MIRT2212850	hsa-miR-4698	CLIP-seq
MIRT937758	hsa-miR-4708-3p	CLIP-seq
MIRT937759	hsa-miR-4717-5p	CLIP-seq
MIRT937762	hsa-miR-4753-5p	CLIP-seq
MIRT1977575	hsa-miR-4768-5p	CLIP-seq
MIRT2212851	hsa-miR-4775	CLIP-seq
MIRT2212852	hsa-miR-494	CLIP-seq
MIRT937769	hsa-miR-522	CLIP-seq
MIRT2212853	hsa-miR-562	CLIP-seq
MIRT2212854	hsa-miR-579	CLIP-seq
MIRT937788	hsa-miR-587	CLIP-seq
MIRT2212855	hsa-miR-590-3p	CLIP-seq
MIRT2212856	hsa-miR-664	CLIP-seq
MIRT937717	hsa-miR-2053	CLIP-seq
MIRT937720	hsa-miR-3127-5p	CLIP-seq
MIRT2516729	hsa-miR-3133	CLIP-seq
MIRT1977567	hsa-miR-325	CLIP-seq
MIRT937727	hsa-miR-338-5p	CLIP-seq
MIRT937733	hsa-miR-3653	CLIP-seq
MIRT937734	hsa-miR-3658	CLIP-seq
MIRT937742	hsa-miR-4302	CLIP-seq
MIRT937743	hsa-miR-4422	CLIP-seq
MIRT937747	hsa-miR-4477a	CLIP-seq
MIRT937748	hsa-miR-4489	CLIP-seq
MIRT937764	hsa-miR-4764-3p	CLIP-seq
MIRT2516730	hsa-miR-4803	CLIP-seq
MIRT2212852	hsa-miR-494	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT2516731	hsa-miR-548b-3p	CLIP-seq
MIRT937775	hsa-miR-548c-3p	CLIP-seq
MIRT2212853	hsa-miR-562	CLIP-seq
MIRT2212854	hsa-miR-579	CLIP-seq
MIRT2516732	hsa-miR-582-3p	CLIP-seq
MIRT2516733	hsa-miR-607	CLIP-seq
MIRT1977578	hsa-miR-618	CLIP-seq
MIRT1977579	hsa-miR-628-3p	CLIP-seq
MIRT2212856	hsa-miR-664	CLIP-seq
MIRT1977580	hsa-miR-802	CLIP-seq
MIRT937720	hsa-miR-3127-5p	CLIP-seq
MIRT2516729	hsa-miR-3133	CLIP-seq
MIRT937743	hsa-miR-4422	CLIP-seq
MIRT937748	hsa-miR-4489	CLIP-seq
MIRT937764	hsa-miR-4764-3p	CLIP-seq
MIRT2516730	hsa-miR-4803	CLIP-seq
MIRT2212852	hsa-miR-494	CLIP-seq
MIRT937768	hsa-miR-513a-3p	CLIP-seq
MIRT2516731	hsa-miR-548b-3p	CLIP-seq
MIRT937775	hsa-miR-548c-3p	CLIP-seq
MIRT2212853	hsa-miR-562	CLIP-seq
MIRT2212854	hsa-miR-579	CLIP-seq
MIRT2516732	hsa-miR-582-3p	CLIP-seq
MIRT2516733	hsa-miR-607	CLIP-seq
MIRT2212856	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	IBA
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	IDA	9045657, 9242632, 20160912
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	IEA
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	NAS	3191998
GO:0004742	Function	Dihydrolipoyllysine-residue acetyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	15861126, 17683942, 18206651, 25525879, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IBA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IC	9242632
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	ISS
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	ISS
GO:0016407	Function	Acetyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	18184587, 18184588
GO:0042867	Process	Pyruvate catabolic process	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IBA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	9242632, 25525879
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0045254	Component	Pyruvate dehydrogenase complex	NAS	3191998

Other IDs

• MIM: 608770
• HGNC: 2896
• e!Ensembl: ENSG00000150768

Protein

• UniProt ID: P10515
• Protein name: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial (EC 2.3.1.12) (70 kDa mitochondrial autoantigen of primary biliary cirrhosis) (PBC) (Dihydrolipoamide acetyltransferase component of pyruvate dehydrog
• Protein function: As part of the pyruvate dehydrogenase complex, catalyzes the transfers of an acetyl group to a lipoic acid moiety (Probable). The pyruvate dehydrogenase complex, catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby l
• PDB: 1FYC, 1Y8N, 1Y8O, 1Y8P, 2DNE, 2PNR, 2Q8I, 3B8K, 3CRK, 3CRL, 6CT0, 6H55, 8PIU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00364	Biotin_lipoyl	92 → 165	Biotin-requiring enzyme	Domain
  PF00364	Biotin_lipoyl	219 → 293	Biotin-requiring enzyme	Domain
  PF02817	E3_binding	355 → 390	e3 binding domain	Family
  PF00198	2-oxoacid_dh	417 → 647	2-oxoacid dehydrogenases acyltransferase (catalytic domain)	Domain

• Sequence:

  MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCG
  WTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKIN
  EGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYT
  LDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEK
  KVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADI
  SAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPL
  AKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVF
  TDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFI
  IKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIAND
  VVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPA
  DNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL

• Sequence length: 647

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
Pancreatic adenocarcinoma	Pathogenic	rs782185799	RCV005931608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyruvate dehydrogenase E2 deficiency	Likely pathogenic; Pathogenic	rs1432866316, rs2137679109, rs1862823765, rs1862000857, rs782029228, rs782185799, rs782225633, rs2498425963, rs367875541, rs782704553, rs781991355	RCV001844333 RCV000002190 RCV003498718 RCV003603261 RCV003603203 RCV003603410 RCV003603997 RCV004547317 RCV001196727 RCV000500244 RCV002633576	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DLAT-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28834158		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	27170385		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	20952467		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16622521	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37547319	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	16622521		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	19012040, 29511554		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11344867, 28100006		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	12108679		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	12395322, 17068145		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27060914		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35996075, 36949759, 37180167	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36312586	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36949759, 37199628, 37949877	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36611155, 37124062, 37885090, 37949877, 38025761, 38078880, 39528670, 40141422	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36949759, 37828099, 39710381	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36826087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36949759	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37889309, 37938155	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36949759	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	29593060		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	34737337	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	10022651		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	20347176, 31713023		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32744303	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38078879	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28054837		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	40149491	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27846294		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27846294		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37773841	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30266625		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37866660	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29148806		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27170385		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36270342, 39574473, 40355831	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Injuries	Cardiac injury	Pubtator	36988255	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	39809184	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37938155	Inhibit	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	40149491	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36949759	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9359511		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15755508		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30344796		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	20347176, 31713023		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	10706737, 11344867, 11457875, 15845458, 19630465, 20568301, 21735469, 34737337, 7836925, 8102256, 8460168, 8514873, 8565296, 9819369	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	20347176		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	16418202		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	16418202		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16418202		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	16418202		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27060914		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33615715	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26270641, 29380062, 30344796		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37809099	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36975441, 37330494, 40367233	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37215133	Associate	★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	9407346		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	10102567, 10385636, 10441182, 11050037, 11804659, 12108679, 12360422, 12395322, 12447863, 12935787, 14568249, 14599987, 14672611, 15120760, 16278592, 17360156, 18644699, 19638108, 20180236, 21735469, 22178199, 23352659, 27784538, 28062665, 28187915, 28406960, 29127360, 29540861, 30155449, 30343708, 30344796, 30721553, 31664722, 7521314, 8102256, 8133065, 8460168, 8565296, 8985260, 9089911, 9407346, 9566826, 9802945		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	24412607, 26270641, 27170385, 28865156		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28412046		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	BEFREE	15070761		★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	GENOMICS_ENGLAND_DG	16049940, 20022530		★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E2 Deficiency	Pyruvate Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	16049940, 19891062, 20022530, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E2 Deficiency	Pyruvate Dehydrogenase Deficiency	ORPHANET_DG	16049940		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate dehydrogenase E2 deficiency	Pyruvate Dehydrogenase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E2 Deficiency	Pyruvate Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E2 Deficiency	Pyruvate Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36949759	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23034102		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	16278592		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36949759, 37505170	Stimulate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16418202		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	36012169	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16418202		★☆☆☆☆ Found in Text Mining only