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	1962
Gene name	Enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Gene symbol	EHHADH
Synonyms (NCBI Gene)	ECHDFRTS3L-PBELBFPLBPMFE1PBFE
Chromosome	3
Chromosome location	3q27.2
Summary	The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-h

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140527463	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140735525	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141355337	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144464757	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146431168	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150744159	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs752275123	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

152

Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036469	hsa-miR-1226-3p	CLASH	23622248
MIRT715150	hsa-miR-6889-3p	HITS-CLIP	19536157
MIRT715149	hsa-miR-4252	HITS-CLIP	19536157
MIRT715148	hsa-miR-1254	HITS-CLIP	19536157
MIRT715147	hsa-miR-3116	HITS-CLIP	19536157
MIRT715146	hsa-miR-661	HITS-CLIP	19536157
MIRT715145	hsa-miR-1291	HITS-CLIP	19536157
MIRT715144	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT715143	hsa-miR-6851-3p	HITS-CLIP	19536157
MIRT715142	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT715141	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT715140	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT715139	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT715138	hsa-miR-328-3p	HITS-CLIP	19536157
MIRT715137	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT733764	hsa-miR-486-5p	Luciferase reporter assayqRT-PCRWestern blotting	33430801
MIRT715150	hsa-miR-6889-3p	HITS-CLIP	19536157
MIRT715149	hsa-miR-4252	HITS-CLIP	19536157
MIRT715148	hsa-miR-1254	HITS-CLIP	19536157
MIRT715147	hsa-miR-3116	HITS-CLIP	19536157
MIRT715146	hsa-miR-661	HITS-CLIP	19536157
MIRT715145	hsa-miR-1291	HITS-CLIP	19536157
MIRT715144	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT715143	hsa-miR-6851-3p	HITS-CLIP	19536157
MIRT715142	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT715141	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT715140	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT715139	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT715138	hsa-miR-328-3p	HITS-CLIP	19536157
MIRT715137	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT955591	hsa-miR-1253	CLIP-seq
MIRT955592	hsa-miR-3064-3p	CLIP-seq
MIRT955593	hsa-miR-3065-5p	CLIP-seq
MIRT955594	hsa-miR-3125	CLIP-seq
MIRT955595	hsa-miR-3140-3p	CLIP-seq
MIRT955596	hsa-miR-3149	CLIP-seq
MIRT955597	hsa-miR-3177-5p	CLIP-seq
MIRT955598	hsa-miR-3187-3p	CLIP-seq
MIRT955599	hsa-miR-3188	CLIP-seq
MIRT955600	hsa-miR-3916	CLIP-seq
MIRT955601	hsa-miR-3942-3p	CLIP-seq
MIRT955602	hsa-miR-4435	CLIP-seq
MIRT955603	hsa-miR-4511	CLIP-seq
MIRT955604	hsa-miR-4529-5p	CLIP-seq
MIRT955605	hsa-miR-4680-5p	CLIP-seq
MIRT955606	hsa-miR-4701-5p	CLIP-seq
MIRT955607	hsa-miR-4715-3p	CLIP-seq
MIRT955608	hsa-miR-487a	CLIP-seq
MIRT955609	hsa-miR-499-3p	CLIP-seq
MIRT955610	hsa-miR-499a-3p	CLIP-seq
MIRT955611	hsa-miR-548s	CLIP-seq
MIRT955612	hsa-miR-550b	CLIP-seq
MIRT955613	hsa-miR-588	CLIP-seq
MIRT955614	hsa-miR-599	CLIP-seq
MIRT955615	hsa-miR-600	CLIP-seq
MIRT955591	hsa-miR-1253	CLIP-seq
MIRT955593	hsa-miR-3065-5p	CLIP-seq
MIRT955599	hsa-miR-3188	CLIP-seq
MIRT955616	hsa-miR-3941	CLIP-seq
MIRT955617	hsa-miR-4476	CLIP-seq
MIRT955603	hsa-miR-4511	CLIP-seq
MIRT955618	hsa-miR-466	CLIP-seq
MIRT955619	hsa-miR-4672	CLIP-seq
MIRT955605	hsa-miR-4680-5p	CLIP-seq
MIRT955620	hsa-miR-4699-5p	CLIP-seq
MIRT955621	hsa-miR-4744	CLIP-seq
MIRT955609	hsa-miR-499-3p	CLIP-seq
MIRT955610	hsa-miR-499a-3p	CLIP-seq
MIRT955622	hsa-miR-591	CLIP-seq
MIRT955615	hsa-miR-600	CLIP-seq
MIRT1548244	hsa-miR-3176	CLIP-seq
MIRT1548245	hsa-miR-3663-5p	CLIP-seq
MIRT1548246	hsa-miR-371-5p	CLIP-seq
MIRT1548247	hsa-miR-371b-5p	CLIP-seq
MIRT1548248	hsa-miR-3922-3p	CLIP-seq
MIRT1548249	hsa-miR-4729	CLIP-seq
MIRT1548250	hsa-miR-4757-5p	CLIP-seq
MIRT1548251	hsa-miR-513a-3p	CLIP-seq
MIRT1920404	hsa-miR-576-5p	CLIP-seq
MIRT1920404	hsa-miR-576-5p	CLIP-seq
MIRT1920404	hsa-miR-576-5p	CLIP-seq
MIRT1983030	hsa-miR-106a	CLIP-seq
MIRT1983031	hsa-miR-106b	CLIP-seq
MIRT1983032	hsa-miR-150	CLIP-seq
MIRT1983033	hsa-miR-17	CLIP-seq
MIRT1983034	hsa-miR-1976	CLIP-seq
MIRT1983035	hsa-miR-20a	CLIP-seq
MIRT1983036	hsa-miR-20b	CLIP-seq
MIRT1983037	hsa-miR-302a	CLIP-seq
MIRT1983038	hsa-miR-302b	CLIP-seq
MIRT1983039	hsa-miR-302c	CLIP-seq
MIRT1983040	hsa-miR-302d	CLIP-seq
MIRT1983041	hsa-miR-302e	CLIP-seq
MIRT1983042	hsa-miR-3161	CLIP-seq
MIRT1983043	hsa-miR-3200-5p	CLIP-seq
MIRT1983044	hsa-miR-3607-5p	CLIP-seq
MIRT1548246	hsa-miR-371-5p	CLIP-seq
MIRT1983045	hsa-miR-372	CLIP-seq
MIRT1983046	hsa-miR-373	CLIP-seq
MIRT1983047	hsa-miR-3934	CLIP-seq
MIRT1983048	hsa-miR-4461	CLIP-seq
MIRT1983049	hsa-miR-4722-3p	CLIP-seq
MIRT1548249	hsa-miR-4729	CLIP-seq
MIRT1983050	hsa-miR-4731-5p	CLIP-seq
MIRT1983051	hsa-miR-4760-3p	CLIP-seq
MIRT1983052	hsa-miR-5095	CLIP-seq
MIRT1983053	hsa-miR-512-3p	CLIP-seq
MIRT1983054	hsa-miR-519d	CLIP-seq
MIRT1983055	hsa-miR-520a-3p	CLIP-seq
MIRT1983056	hsa-miR-520b	CLIP-seq
MIRT1983057	hsa-miR-520c-3p	CLIP-seq
MIRT1983058	hsa-miR-520d-3p	CLIP-seq
MIRT1983059	hsa-miR-520e	CLIP-seq
MIRT1983060	hsa-miR-520g	CLIP-seq
MIRT1983061	hsa-miR-520h	CLIP-seq
MIRT1983062	hsa-miR-552	CLIP-seq
MIRT1983063	hsa-miR-621	CLIP-seq
MIRT1983064	hsa-miR-93	CLIP-seq
MIRT1983030	hsa-miR-106a	CLIP-seq
MIRT1983031	hsa-miR-106b	CLIP-seq
MIRT955591	hsa-miR-1253	CLIP-seq
MIRT1983032	hsa-miR-150	CLIP-seq
MIRT1983033	hsa-miR-17	CLIP-seq
MIRT1983034	hsa-miR-1976	CLIP-seq
MIRT1983035	hsa-miR-20a	CLIP-seq
MIRT1983036	hsa-miR-20b	CLIP-seq
MIRT1983037	hsa-miR-302a	CLIP-seq
MIRT1983038	hsa-miR-302b	CLIP-seq
MIRT1983039	hsa-miR-302c	CLIP-seq
MIRT1983040	hsa-miR-302d	CLIP-seq
MIRT1983041	hsa-miR-302e	CLIP-seq
MIRT955593	hsa-miR-3065-5p	CLIP-seq
MIRT1983045	hsa-miR-372	CLIP-seq
MIRT1983046	hsa-miR-373	CLIP-seq
MIRT955603	hsa-miR-4511	CLIP-seq
MIRT955605	hsa-miR-4680-5p	CLIP-seq
MIRT1983049	hsa-miR-4722-3p	CLIP-seq
MIRT1548249	hsa-miR-4729	CLIP-seq
MIRT1983050	hsa-miR-4731-5p	CLIP-seq
MIRT1983052	hsa-miR-5095	CLIP-seq
MIRT1983053	hsa-miR-512-3p	CLIP-seq
MIRT1983054	hsa-miR-519d	CLIP-seq
MIRT1983055	hsa-miR-520a-3p	CLIP-seq
MIRT1983056	hsa-miR-520b	CLIP-seq
MIRT1983057	hsa-miR-520c-3p	CLIP-seq
MIRT1983058	hsa-miR-520d-3p	CLIP-seq
MIRT1983059	hsa-miR-520e	CLIP-seq
MIRT1983060	hsa-miR-520g	CLIP-seq
MIRT1983061	hsa-miR-520h	CLIP-seq
MIRT1983062	hsa-miR-552	CLIP-seq
MIRT955615	hsa-miR-600	CLIP-seq
MIRT1983064	hsa-miR-93	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	15060085
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	ISS
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	NAS	8188243
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	IEA
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	ISS
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	15060085
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	ISS
GO:0004300	Function	Enoyl-CoA hydratase activity	NAS	8188243
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 33961781, 36217029
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	1651711, 2895531, 9053548
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	ISS
GO:0005777	Component	Peroxisome	NAS	8188243
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	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	15060085
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	ISS
GO:0006635	Process	Fatty acid beta-oxidation	NAS	8188243
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016509	Function	Long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	15060085
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016863	Function	Intramolecular oxidoreductase activity, transposing C=C bonds	IEA
GO:0016863	Function	Intramolecular oxidoreductase activity, transposing C=C bonds	ISS
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	TAS
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	16781659
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0070403	Function	NAD+ binding	IEA
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
607037	3247	ENSG00000113790

Q08426

Protein name

Peroxisomal bifunctional enzyme (PBE) (PBFE) (L-bifunctional protein) (LBP) (Multifunctional enzyme 1) (MFE1) [Includes: Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase (EC 4.2.1.17) (EC 5.3.3.8); 3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.35)]

Protein function

Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Catalyzes two of the four reactions of the long chain fatty acids peroxisomal beta-oxidation

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00378	ECH_1	6 → 215	Enoyl-CoA hydratase/isomerase	Domain
PF02737	3HCDH_N	299 → 476	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain	Domain
PF00725	3HCDH	478 → 582	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain
PF00725	3HCDH	619 → 715	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain. {ECO:0000269|PubMed:24401050, ECO:0000269|PubMed:8188243}.

Sequence

MAEYTRLHNALALIRLRNPPVNAISTTLLRDIKEGLQKAVIDHTIKAIVICGAEGKFSAG
ADIRGFSAPRTFGLTLGHVVDEIQRNEKPVVAAIQGMAFGGGLELALGCHYRIAHAEAQV
GLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEE
AIRFAQRVSDQPLESRRLCNKPIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAA
VQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARPVSSV
GVVGLGTMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSG
PKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAELSAVCKPEAFLCTNTSALDVDEIAS
STDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFV
GNRMLNPYYNQAYFLLEEGSKPEEVDQVLEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLT
GPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFL
SRYRKTHHIEPRTISQDEILERCLYSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHK
GGPMFYASTVGLPTVLEKLQKYYRQNPDIPQLEPSDYLKKLASQGNPPLKEWQSLAGSPS
SKL

Sequence length

723

Interactions

View interactions

	KEGG		Reactome
	Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism beta-Alanine metabolism Propanoate metabolism Butanoate metabolism Metabolic pathways Fatty acid metabolism PPAR signaling pathway Peroxisome		Beta-oxidation of very long chain fatty acids Peroxisomal protein import

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 (26)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIFUNCTIONAL ENZYME DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DE TONI-DEBRE-FANCONI SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHHADH-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi renotubular syndrome 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fanconi renotubular syndrome 3	no classifications from unflagged records; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar CTD, ClinGen, ClinVar, Disgenet, HPO CTD, ClinGen, ClinVar, Disgenet, HPO CTD, ClinGen, ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FANCONI SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY FANCONI RENOTUBULAR SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY FANCONI SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	24401050, 25492894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	ORPHANET_DG	24401050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	9585418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	27250500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bifunctional enzyme deficiency	Bifunctional Enzyme Deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16380905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	33997049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28430663, 30341252, 30680535, 34664394, 38637116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	21186003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34215202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI RENOTUBULAR SYNDROME 1	Fanconi Syndrome	ORPHANET_DG	24401050		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FANCONI RENOTUBULAR SYNDROME 3	Fanconi Syndrome	GENOMICS_ENGLAND_DG	24401050		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FANCONI RENOTUBULAR SYNDROME 3	Fanconi Syndrome	UNIPROT_DG	24401050		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FANCONI RENOTUBULAR SYNDROME 3	Fanconi Syndrome	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fanconi Syndrome	Fanconi Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11489939, 17986831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10190314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	BEFREE	10625081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	10331465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31839812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33997049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15236401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Fanconi renotubular syndrome	Fanconi Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	BEFREE	31300090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	10331465, 10625081		★★★★★ ★☆☆☆☆ Found in Text Mining only

EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)