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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3033
Gene name	Hydroxyacyl-CoA dehydrogenase
Gene symbol	HADH
Synonyms (NCBI Gene)	HADHADH1HADHSCHCDHHHF4MSCHADSCHAD
Chromosome	4
Chromosome location	4q25
Summary	This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activit

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61735992	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs76476980	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs137853102	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs137853103	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs140413151	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146036912	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146732064	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs375717077	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs745727504	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs766656997	->TTCA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786200932	G>A,T	Pathogenic	Intron variant
rs1398546361	G>A	Pathogenic	Splice donor variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004893	hsa-miR-124-3p	Microarray	15685193
MIRT004893	hsa-miR-124-3p	Microarray	15685193
MIRT004893	hsa-miR-124-3p	Microarray	18668037
MIRT023932	hsa-miR-1-3p	Proteomics	18668040
MIRT023932	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT024384	hsa-miR-215-5p	Microarray	19074876
MIRT026706	hsa-miR-192-5p	Microarray	19074876
MIRT029744	hsa-miR-26b-5p	Microarray	19088304
MIRT043605	hsa-miR-151a-3p	CLASH	23622248
MIRT037367	hsa-miR-877-5p	CLASH	23622248
MIRT1040401	hsa-miR-103a	CLIP-seq
MIRT1040402	hsa-miR-107	CLIP-seq
MIRT1040403	hsa-miR-124	CLIP-seq
MIRT1040404	hsa-miR-15a	CLIP-seq
MIRT1040405	hsa-miR-15b	CLIP-seq
MIRT1040406	hsa-miR-16	CLIP-seq
MIRT1040407	hsa-miR-195	CLIP-seq
MIRT1040408	hsa-miR-2054	CLIP-seq
MIRT1040409	hsa-miR-214	CLIP-seq
MIRT1040410	hsa-miR-3125	CLIP-seq
MIRT1040411	hsa-miR-3190	CLIP-seq
MIRT1040412	hsa-miR-320a	CLIP-seq
MIRT1040413	hsa-miR-320b	CLIP-seq
MIRT1040414	hsa-miR-320c	CLIP-seq
MIRT1040415	hsa-miR-320d	CLIP-seq
MIRT1040416	hsa-miR-34b	CLIP-seq
MIRT1040417	hsa-miR-3619-5p	CLIP-seq
MIRT1040418	hsa-miR-3916	CLIP-seq
MIRT1040419	hsa-miR-412	CLIP-seq
MIRT1040420	hsa-miR-424	CLIP-seq
MIRT1040421	hsa-miR-4257	CLIP-seq
MIRT1040422	hsa-miR-4291	CLIP-seq
MIRT1040423	hsa-miR-4330	CLIP-seq
MIRT1040424	hsa-miR-4429	CLIP-seq
MIRT1040425	hsa-miR-4434	CLIP-seq
MIRT1040426	hsa-miR-4516	CLIP-seq
MIRT1040427	hsa-miR-4531	CLIP-seq
MIRT1040428	hsa-miR-4639-3p	CLIP-seq
MIRT1040429	hsa-miR-4698	CLIP-seq
MIRT1040430	hsa-miR-4718	CLIP-seq
MIRT1040431	hsa-miR-4728-3p	CLIP-seq
MIRT1040432	hsa-miR-4729	CLIP-seq
MIRT1040433	hsa-miR-497	CLIP-seq
MIRT1040434	hsa-miR-506	CLIP-seq
MIRT1040435	hsa-miR-582-3p	CLIP-seq
MIRT1040436	hsa-miR-591	CLIP-seq
MIRT1040437	hsa-miR-628-5p	CLIP-seq
MIRT1040438	hsa-miR-660	CLIP-seq
MIRT1040439	hsa-miR-761	CLIP-seq
MIRT1040440	hsa-miR-922	CLIP-seq
MIRT1040441	hsa-miR-944	CLIP-seq
MIRT1040410	hsa-miR-3125	CLIP-seq
MIRT1040442	hsa-miR-3646	CLIP-seq
MIRT1040418	hsa-miR-3916	CLIP-seq
MIRT1040443	hsa-miR-3942-3p	CLIP-seq
MIRT1040444	hsa-miR-411	CLIP-seq
MIRT1040421	hsa-miR-4257	CLIP-seq
MIRT1040423	hsa-miR-4330	CLIP-seq
MIRT1040445	hsa-miR-4494	CLIP-seq
MIRT1040446	hsa-miR-4499	CLIP-seq
MIRT1040428	hsa-miR-4639-3p	CLIP-seq
MIRT1040447	hsa-miR-4672	CLIP-seq
MIRT1040448	hsa-miR-494	CLIP-seq
MIRT1040449	hsa-miR-499a-5p	CLIP-seq
MIRT1040408	hsa-miR-2054	CLIP-seq
MIRT1040416	hsa-miR-34b	CLIP-seq
MIRT1040429	hsa-miR-4698	CLIP-seq
MIRT1040432	hsa-miR-4729	CLIP-seq
MIRT2008427	hsa-miR-590-3p	CLIP-seq
MIRT1040403	hsa-miR-124	CLIP-seq
MIRT2240918	hsa-miR-3064-5p	CLIP-seq
MIRT2240919	hsa-miR-3652	CLIP-seq
MIRT2240920	hsa-miR-3978	CLIP-seq
MIRT2240921	hsa-miR-4269	CLIP-seq
MIRT2240922	hsa-miR-4430	CLIP-seq
MIRT2240923	hsa-miR-4505	CLIP-seq
MIRT2240924	hsa-miR-4508	CLIP-seq
MIRT1040434	hsa-miR-506	CLIP-seq
MIRT2240925	hsa-miR-518a-3p	CLIP-seq
MIRT2240926	hsa-miR-518b	CLIP-seq
MIRT2240927	hsa-miR-518c	CLIP-seq
MIRT2240928	hsa-miR-518d-3p	CLIP-seq
MIRT2240929	hsa-miR-518e	CLIP-seq
MIRT2240930	hsa-miR-518f	CLIP-seq
MIRT2240931	hsa-miR-875-3p	CLIP-seq
MIRT2240932	hsa-miR-892b	CLIP-seq
MIRT2388896	hsa-miR-4477a	CLIP-seq
MIRT1040401	hsa-miR-103a	CLIP-seq
MIRT1040402	hsa-miR-107	CLIP-seq
MIRT1040404	hsa-miR-15a	CLIP-seq
MIRT1040405	hsa-miR-15b	CLIP-seq
MIRT1040406	hsa-miR-16	CLIP-seq
MIRT1040407	hsa-miR-195	CLIP-seq
MIRT2544449	hsa-miR-1976	CLIP-seq
MIRT1040409	hsa-miR-214	CLIP-seq
MIRT2544450	hsa-miR-3160-3p	CLIP-seq
MIRT1040417	hsa-miR-3619-5p	CLIP-seq
MIRT1040419	hsa-miR-412	CLIP-seq
MIRT1040420	hsa-miR-424	CLIP-seq
MIRT1040422	hsa-miR-4291	CLIP-seq
MIRT2544451	hsa-miR-4427	CLIP-seq
MIRT1040431	hsa-miR-4728-3p	CLIP-seq
MIRT2544452	hsa-miR-4756-3p	CLIP-seq
MIRT1040433	hsa-miR-497	CLIP-seq
MIRT2544453	hsa-miR-548u	CLIP-seq
MIRT2544454	hsa-miR-570	CLIP-seq
MIRT1040436	hsa-miR-591	CLIP-seq
MIRT1040437	hsa-miR-628-5p	CLIP-seq
MIRT2544455	hsa-miR-642b	CLIP-seq
MIRT1040438	hsa-miR-660	CLIP-seq
MIRT1040439	hsa-miR-761	CLIP-seq
MIRT1040440	hsa-miR-922	CLIP-seq
MIRT1040401	hsa-miR-103a	CLIP-seq
MIRT1040402	hsa-miR-107	CLIP-seq
MIRT1040403	hsa-miR-124	CLIP-seq
MIRT1040404	hsa-miR-15a	CLIP-seq
MIRT1040405	hsa-miR-15b	CLIP-seq
MIRT1040406	hsa-miR-16	CLIP-seq
MIRT1040407	hsa-miR-195	CLIP-seq
MIRT2544449	hsa-miR-1976	CLIP-seq
MIRT1040409	hsa-miR-214	CLIP-seq
MIRT2544450	hsa-miR-3160-3p	CLIP-seq
MIRT1040412	hsa-miR-320a	CLIP-seq
MIRT1040413	hsa-miR-320b	CLIP-seq
MIRT1040414	hsa-miR-320c	CLIP-seq
MIRT1040415	hsa-miR-320d	CLIP-seq
MIRT2682217	hsa-miR-3613-3p	CLIP-seq
MIRT1040417	hsa-miR-3619-5p	CLIP-seq
MIRT1040419	hsa-miR-412	CLIP-seq
MIRT1040420	hsa-miR-424	CLIP-seq
MIRT1040422	hsa-miR-4291	CLIP-seq
MIRT2544451	hsa-miR-4427	CLIP-seq
MIRT1040424	hsa-miR-4429	CLIP-seq
MIRT1040431	hsa-miR-4728-3p	CLIP-seq
MIRT2544452	hsa-miR-4756-3p	CLIP-seq
MIRT1040433	hsa-miR-497	CLIP-seq
MIRT1040434	hsa-miR-506	CLIP-seq
MIRT2544453	hsa-miR-548u	CLIP-seq
MIRT2544454	hsa-miR-570	CLIP-seq
MIRT1040436	hsa-miR-591	CLIP-seq
MIRT2682218	hsa-miR-624	CLIP-seq
MIRT1040437	hsa-miR-628-5p	CLIP-seq
MIRT2544455	hsa-miR-642b	CLIP-seq
MIRT1040438	hsa-miR-660	CLIP-seq
MIRT1040439	hsa-miR-761	CLIP-seq
MIRT1040440	hsa-miR-922	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	11489939
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS	8687463
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA
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	TAS	8687463
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	11489939
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0042802	Function	Identical protein binding	IDA	10231530
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	ISS
GO:0070403	Function	NAD+ binding	IDA	10840044
GO:0070403	Function	NAD+ binding	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	21990309

MIM	HGNC	e!Ensembl
601609	4799	ENSG00000138796

Q16836

Protein name

Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (HCDH) (EC 1.1.1.35) (Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase) (Short-chain 3-hydroxyacyl-CoA dehydrogenase)

Protein function

Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the co

PDB

1F0Y , 1F12 , 1F14 , 1F17 , 1IL0 , 1LSJ , 1LSO , 1M75 , 1M76 , 2HDH , 3HAD , 3RQS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02737	3HCDH_N	29 → 214	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain	Domain
PF00725	3HCDH	216 → 313	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas, heart and skeletal muscle. {ECO:0000269|PubMed:8687463}.

Sequence

MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTE
DILAKSKKGIEESLRKVAKKKFAENLKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAI
VENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKL
VEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERGDAS
KEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAEN
KFGKKTGEGFYKYK

Sequence length

314

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism Butanoate metabolism Metabolic pathways Fatty acid metabolism		Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA Beta oxidation of octanoyl-CoA to hexanoyl-CoA Beta oxidation of hexanoyl-CoA to butanoyl-CoA Beta oxidation of butanoyl-CoA to acetyl-CoA

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of 3-hydroxyacyl-CoA dehydrogenase	Likely pathogenic; Pathogenic	rs2126234552, rs1402140155, rs2477199629, rs138521550, rs2477237481, rs2477138010, rs111951959, rs1736114396, rs1735964758, rs2477238123, rs2477217032, rs1239277010, rs2477270617, rs2477217602, rs2477137510 View all (7 more)	RCV002249070 RCV003619821 RCV003159274 RCV003468307 RCV003468308 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hyperinsulinism	Likely pathogenic	rs779135938	RCV006262349	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinemic hypoglycemia	Likely pathogenic; Pathogenic	rs779135938, rs1398546361	RCV003221358 RCV003221307	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinemic hypoglycemia, familial, 4	Likely pathogenic; Pathogenic	rs2477237537, rs137853103, rs2126234459, rs138521550, rs375717077, rs786200932, rs779135938, rs1398546361, rs745727504	RCV002471463 RCV000008484 RCV000008485 RCV005036809 RCV000032678 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

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.
3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY	—	GWAS catalog, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HADH-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia, familial, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism, Dominant/Recessive	Uncertain risk allele; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (57)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3-Hydroxyacyl-CoA Dehydrogenase Deficiency	3-hydroxyacyl-CoA Dehydrogenase Deficiency	CLINGEN_DG	11489939, 15870679, 21990309, 22579592, 23273570, 23430856		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
3-Hydroxyacyl-CoA Dehydrogenase Deficiency	3-hydroxyacyl-CoA Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	27181376		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
3-Hydroxyacyl-CoA Dehydrogenase Deficiency	3-hydroxyacyl-CoA Dehydrogenase Deficiency	UNIPROT_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
3-Hydroxyacyl-CoA Dehydrogenase Deficiency	3-hydroxyacyl-CoA Dehydrogenase Deficiency	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
3-Hydroxyacyl-CoA Dehydrogenase Deficiency	3-hydroxyacyl-CoA Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
3-Hydroxyacyl-CoA Dehydrogenase Deficiency	3-hydroxyacyl-CoA Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	11356171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28582492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30793530, 37460577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34391866	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29453334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	15868462, 18156285, 19417036, 20931292, 20936362, 21186003, 21252247, 23212075, 25733449, 26316438, 27771675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	19417036, 21252247, 23275527, 26316438, 26758964, 27771675, 34927408	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	30168279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17065362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30168279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	19417036, 21252247, 23273570, 24859512, 25733449, 26316438, 27771675		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia	UNIPROT_DG	11489939		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia	GENOMICS_ENGLAND_DG	27181376		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinism	Hyperinsulinism	BEFREE	15868462, 15870679, 17986831, 20923481, 21130127, 23273570		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	Pubtator	20923481, 23273570, 29493090	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	Hyperinsulinism	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	LHGDN	14693719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	20923481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	27771675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemic encephalopathy	Hypoglycemic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	28582492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30176945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	28582492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28582492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	15868462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30431036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37410216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26945479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	28552586		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28582492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33881965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	9739053		★★★★★ ★☆☆☆☆ Found in Text Mining only

HADH (hydroxyacyl-CoA dehydrogenase)