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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5162
Gene name	Pyruvate dehydrogenase E1 subunit beta
Gene symbol	PDHB
Synonyms (NCBI Gene)	E1betaPDHBDPDHE1-BPDHE1BPHE1B
Chromosome	3
Chromosome location	3p14.3
Summary	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933391	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28935769	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs863224158	A>T	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs863225125	TACATACCATA>-	Pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant

155

Show/Hide all (155)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027487	hsa-miR-98-5p	Microarray	19088304
MIRT052771	hsa-miR-1260b	CLASH	23622248
MIRT687273	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687272	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687271	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687270	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687269	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687268	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687267	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687266	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687265	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687264	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687263	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687262	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687261	hsa-miR-302e	HITS-CLIP	23313552
MIRT687260	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687259	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687258	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687257	hsa-miR-520b	HITS-CLIP	23313552
MIRT687256	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687255	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687254	hsa-miR-520e	HITS-CLIP	23313552
MIRT687253	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687252	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT687251	hsa-miR-556-5p	HITS-CLIP	23313552
MIRT687250	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687249	hsa-miR-520h	HITS-CLIP	23313552
MIRT687248	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687247	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT687246	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT687245	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687244	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687243	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687242	hsa-miR-610	HITS-CLIP	23313552
MIRT687241	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687240	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687239	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687238	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635012	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT635011	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT635010	hsa-miR-6844	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635009	hsa-miR-3674	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT687273	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT687272	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT687271	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT687270	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT687269	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT687268	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT687267	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT687266	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT687265	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT687264	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT687263	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT687262	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT687261	hsa-miR-302e	HITS-CLIP	23313552
MIRT687260	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT687259	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT687258	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT687257	hsa-miR-520b	HITS-CLIP	23313552
MIRT687256	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT687255	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT687254	hsa-miR-520e	HITS-CLIP	23313552
MIRT687253	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT687252	hsa-miR-1295b-3p	HITS-CLIP	23313552
MIRT687251	hsa-miR-556-5p	HITS-CLIP	23313552
MIRT687250	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT687249	hsa-miR-520h	HITS-CLIP	23313552
MIRT687248	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT687247	hsa-miR-6752-3p	HITS-CLIP	23313552
MIRT687246	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT687245	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT687244	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT687243	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT687242	hsa-miR-610	HITS-CLIP	23313552
MIRT687241	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT687240	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT687239	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT687238	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635012	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT635011	hsa-miR-4732-5p	HITS-CLIP	23824327
MIRT635010	hsa-miR-6844	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT635009	hsa-miR-3674	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT609552	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT609551	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT609550	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT1221347	hsa-miR-764	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221349	hsa-miR-185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT1221351	hsa-miR-3150b-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT1221355	hsa-miR-4306	CLIP-seq
MIRT1221356	hsa-miR-4644	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221358	hsa-miR-4693-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221360	hsa-miR-4784	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221363	hsa-miR-765	CLIP-seq
MIRT2063889	hsa-miR-431	CLIP-seq
MIRT1221349	hsa-miR-185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT1221355	hsa-miR-4306	CLIP-seq
MIRT1221356	hsa-miR-4644	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221358	hsa-miR-4693-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT2292394	hsa-miR-587	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT2590474	hsa-miR-3064-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq
MIRT1221348	hsa-miR-1185	CLIP-seq
MIRT1221350	hsa-miR-2355-3p	CLIP-seq
MIRT2590474	hsa-miR-3064-3p	CLIP-seq
MIRT1221352	hsa-miR-3163	CLIP-seq
MIRT1221353	hsa-miR-3662	CLIP-seq
MIRT1221354	hsa-miR-3679-5p	CLIP-seq
MIRT2063889	hsa-miR-431	CLIP-seq
MIRT1221357	hsa-miR-4646-3p	CLIP-seq
MIRT1221359	hsa-miR-4710	CLIP-seq
MIRT1221361	hsa-miR-4792	CLIP-seq
MIRT1221362	hsa-miR-676	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	18164639, 19081061
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IEA
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	TAS	2376596
GO:0005515	Function	Protein binding	IPI	12651851, 18206651, 19081061, 29128334, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	2295468
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	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	18164639
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	19081061, 24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	ISS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	TAS	2376596
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IBA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	19081061
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0072522	Process	Purine-containing compound biosynthetic process	IEA

MIM	HGNC	e!Ensembl
179060	8808	ENSG00000168291

P11177

Protein name

Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (PDHE1-B) (EC 1.2.4.1)

Protein function

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

PDB

1NI4 , 2OZL , 3EXE , 3EXF , 3EXG , 3EXH , 3EXI , 6CER , 6CFO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02779	Transket_pyr	32 → 209	Transketolase, pyrimidine binding domain	Domain
PF02780	Transketolase_C	226 → 349	Transketolase, C-terminal domain	Domain

Sequence

MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDEELERDEKVFLLGEEV
AQYDGAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAI
DQVINSAAKTYYMSGGLQPVPIVFRGPNGASAGVAAQHSQCFAAWYGHCPGLKVVSPWNS
EDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFLIPIGKAKIERQGTHITVV
SHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEASVMKTNHLVTVEGGWPQFG
VGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILEDNSIPQVKDIIFAIKKTLNI

Sequence length

359

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs201199166	RCV005909244	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs1019990431	RCV005927719	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs201199166	RCV005909243	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs201199166	RCV005909246	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyruvate dehydrogenase E1-beta deficiency	Likely pathogenic; Pathogenic	rs2107943571, rs778727916, rs2471370449, rs2471363855, rs2471374605, rs28935769, rs28933391, rs2471367783, rs1019990431, rs772084220, rs1454439049, rs373124742, rs767832452, rs1390415306, rs2471365738 View all (17 more)	RCV001961206 RCV002775492 RCV003110162 RCV003155614 RCV003228201 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs201199166	RCV005909245	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs201199166	RCV005909247	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

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.
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDHB-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyruvate dehydrogenase complex deficiency	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyruvate dehydrogenase phosphatase deficiency	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	40050878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39396083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37547319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia with Lactic Acidosis, Type I	ATAXIA WITH LACTIC ACIDOSIS	CTD_human_DG	15138885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29940887		★★★★★ ★☆☆☆☆ 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	37350959, 37641032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27711126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	26014431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38078879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	40149491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37773841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26367490	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26367490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38159255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37866660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30178846, 36270342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	40050878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	CTD_human_DG	15138885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	19924563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36675121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29940887		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28364600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	40050878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38018590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28771799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36817415, 37809099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36593912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	40255693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	CTD_human_DG	15138885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	BEFREE	17923481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal	Pyruvate Dehydrogenase Complex Deficiency Disease	CTD_human_DG	15138885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E1-Beta Deficiency	Pyruvate Dehydrogenase Deficiency	ORPHANET_DG	15138885		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E1-Beta Deficiency	Pyruvate Dehydrogenase Deficiency	UNIPROT_DG	15138885		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate dehydrogenase E1-beta deficiency	Pyruvate Dehydrogenase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E1-Beta Deficiency	Pyruvate Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	19924563, 26014431, 26865159, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E1-Beta Deficiency	Pyruvate Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Dehydrogenase E1-Beta Deficiency	Pyruvate Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	25401301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	40050878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20699381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37505170	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PDHB (pyruvate dehydrogenase E1 subunit beta)