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	1892
Gene name	Enoyl-CoA hydratase, short chain 1
Gene symbol	ECHS1
Synonyms (NCBI Gene)	ECHS1DSCEHmECHmECH1
Chromosome	10
Chromosome location	10q26.3
Summary	The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the h

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144800865	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs150321966	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs151006739	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs201865375	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201966675	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs371582393	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375032130	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375266808	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs557128093	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs565090080	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs746519257	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs754609693	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs758723288	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs761989177	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs762885546	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs770614061	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs770931871	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs775650144	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs777218310	TA>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs786204001	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs786204002	C>G	Pathogenic	Intron variant
rs864309656	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1318391499	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554885530	->TT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1589878956	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1589880497	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

118

Show/Hide all (118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023625	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT046438	hsa-miR-15b-5p	CLASH	23622248
MIRT045819	hsa-miR-152-3p	CLASH	23622248
MIRT045094	hsa-miR-186-5p	CLASH	23622248
MIRT951765	hsa-miR-1270	CLIP-seq
MIRT951766	hsa-miR-185	CLIP-seq
MIRT951767	hsa-miR-18a	CLIP-seq
MIRT951768	hsa-miR-18b	CLIP-seq
MIRT951769	hsa-miR-3125	CLIP-seq
MIRT951770	hsa-miR-3154	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT951772	hsa-miR-3907	CLIP-seq
MIRT951773	hsa-miR-3916	CLIP-seq
MIRT951774	hsa-miR-3925-3p	CLIP-seq
MIRT951775	hsa-miR-3928	CLIP-seq
MIRT951776	hsa-miR-3977	CLIP-seq
MIRT951777	hsa-miR-4306	CLIP-seq
MIRT951778	hsa-miR-4531	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT951780	hsa-miR-4644	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT951782	hsa-miR-4735-3p	CLIP-seq
MIRT951783	hsa-miR-4760-5p	CLIP-seq
MIRT951784	hsa-miR-4799-5p	CLIP-seq
MIRT951785	hsa-miR-548e	CLIP-seq
MIRT951786	hsa-miR-548f	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT951788	hsa-miR-620	CLIP-seq
MIRT951767	hsa-miR-18a	CLIP-seq
MIRT951768	hsa-miR-18b	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT951772	hsa-miR-3907	CLIP-seq
MIRT951774	hsa-miR-3925-3p	CLIP-seq
MIRT1981858	hsa-miR-4436a	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT951782	hsa-miR-4735-3p	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2216711	hsa-miR-1207-5p	CLIP-seq
MIRT2216712	hsa-miR-1324	CLIP-seq
MIRT951767	hsa-miR-18a	CLIP-seq
MIRT951768	hsa-miR-18b	CLIP-seq
MIRT2216713	hsa-miR-2277-3p	CLIP-seq
MIRT2216714	hsa-miR-2278	CLIP-seq
MIRT2216715	hsa-miR-3166	CLIP-seq
MIRT2216716	hsa-miR-3189-5p	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT2216717	hsa-miR-3714	CLIP-seq
MIRT951772	hsa-miR-3907	CLIP-seq
MIRT951774	hsa-miR-3925-3p	CLIP-seq
MIRT2216718	hsa-miR-4323	CLIP-seq
MIRT1981858	hsa-miR-4436a	CLIP-seq
MIRT2216719	hsa-miR-4446-5p	CLIP-seq
MIRT2216720	hsa-miR-4457	CLIP-seq
MIRT2216721	hsa-miR-4493	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT2216722	hsa-miR-4731-3p	CLIP-seq
MIRT951782	hsa-miR-4735-3p	CLIP-seq
MIRT2216723	hsa-miR-4742-3p	CLIP-seq
MIRT2216724	hsa-miR-4755-5p	CLIP-seq
MIRT2216725	hsa-miR-4763-3p	CLIP-seq
MIRT2216726	hsa-miR-4801	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2216727	hsa-miR-642a	CLIP-seq
MIRT2216728	hsa-miR-922	CLIP-seq
MIRT2520730	hsa-miR-1207-3p	CLIP-seq
MIRT2520731	hsa-miR-1909	CLIP-seq
MIRT2520732	hsa-miR-2355-3p	CLIP-seq
MIRT2520733	hsa-miR-2467-3p	CLIP-seq
MIRT2520734	hsa-miR-3183	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT2520735	hsa-miR-3611	CLIP-seq
MIRT2520736	hsa-miR-3660	CLIP-seq
MIRT2520737	hsa-miR-3909	CLIP-seq
MIRT951776	hsa-miR-3977	CLIP-seq
MIRT2520738	hsa-miR-4257	CLIP-seq
MIRT2520739	hsa-miR-4325	CLIP-seq
MIRT2520740	hsa-miR-4438	CLIP-seq
MIRT2520741	hsa-miR-4526	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT2520742	hsa-miR-4688	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT2520743	hsa-miR-4723-3p	CLIP-seq
MIRT2520744	hsa-miR-4793-3p	CLIP-seq
MIRT951784	hsa-miR-4799-5p	CLIP-seq
MIRT2520745	hsa-miR-486-3p	CLIP-seq
MIRT2520746	hsa-miR-515-5p	CLIP-seq
MIRT951785	hsa-miR-548e	CLIP-seq
MIRT951786	hsa-miR-548f	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2520747	hsa-miR-676	CLIP-seq
MIRT2520730	hsa-miR-1207-3p	CLIP-seq
MIRT2520731	hsa-miR-1909	CLIP-seq
MIRT2520732	hsa-miR-2355-3p	CLIP-seq
MIRT2520733	hsa-miR-2467-3p	CLIP-seq
MIRT2520734	hsa-miR-3183	CLIP-seq
MIRT951771	hsa-miR-3605-5p	CLIP-seq
MIRT2520735	hsa-miR-3611	CLIP-seq
MIRT2520736	hsa-miR-3660	CLIP-seq
MIRT2520737	hsa-miR-3909	CLIP-seq
MIRT951776	hsa-miR-3977	CLIP-seq
MIRT2520738	hsa-miR-4257	CLIP-seq
MIRT2520739	hsa-miR-4325	CLIP-seq
MIRT2520740	hsa-miR-4438	CLIP-seq
MIRT2520741	hsa-miR-4526	CLIP-seq
MIRT951779	hsa-miR-4635	CLIP-seq
MIRT2520742	hsa-miR-4688	CLIP-seq
MIRT951781	hsa-miR-4699-3p	CLIP-seq
MIRT2520743	hsa-miR-4723-3p	CLIP-seq
MIRT2520744	hsa-miR-4793-3p	CLIP-seq
MIRT951784	hsa-miR-4799-5p	CLIP-seq
MIRT2520745	hsa-miR-486-3p	CLIP-seq
MIRT2520746	hsa-miR-515-5p	CLIP-seq
MIRT951785	hsa-miR-548e	CLIP-seq
MIRT951786	hsa-miR-548f	CLIP-seq
MIRT951787	hsa-miR-583	CLIP-seq
MIRT2520747	hsa-miR-676	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004165	Function	Delta(3)-delta(2)-enoyl-CoA isomerase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	EXP	26251176
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	26251176
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	TAS	9073515
GO:0005515	Function	Protein binding	IPI	14557246, 23416296, 24510904, 24947832, 31046837
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	16130169
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	26251176
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	TAS	9073515
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0043956	Function	3-hydroxypropionyl-CoA dehydratase activity	IEA
GO:0120092	Function	Crotonyl-CoA hydratase activity	IEA

MIM	HGNC	e!Ensembl
602292	3151	ENSG00000127884

P30084

Protein name

Enoyl-CoA hydratase, mitochondrial (mECH) (mECH1) (EC 4.2.1.17) (EC 5.3.3.8) (Enoyl-CoA hydratase 1) (ECHS1) (Short-chain enoyl-CoA hydratase) (SCEH)

Protein function

Converts unsaturated trans-2-enoyl-CoA species ((2E)-enoyl-CoA) to the corresponding (3S)-3hydroxyacyl-CoA species through addition of a water molecule to the double bond (PubMed:25125611, PubMed:26251176). Catalyzes the hydration of medium- and

PDB

2HW5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00378	ECH_1	42 → 290	Enoyl-CoA hydratase/isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver, fibroblast, muscle. Barely detectable in spleen and kidney.

Sequence

MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNA
LCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHW
DHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLT
RAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMA
KESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ

Sequence length

290

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism beta-Alanine metabolism Propanoate metabolism Butanoate metabolism Metabolic pathways Carbon metabolism Fatty acid metabolism		Branched-chain amino acid catabolism 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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ECHS1-related disorder	Likely pathogenic; Pathogenic	rs201865375, rs371063211, rs2133443370, rs758723288	RCV004748657 RCV003420583 RCV003412015 RCV003392223	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh syndrome	Likely pathogenic; Pathogenic	rs587776497, rs587776498, rs746519257	RCV000144496 RCV000144497 RCV004017769	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	Likely pathogenic; Pathogenic	rs933592081, rs1164154836, rs587776497, rs587776498, rs2133441975, rs2133443188, rs769429279, rs786204001, rs786204002, rs1849042311, rs201865375, rs864309656, rs2493847739, rs371063211, rs758723288 View all (20 more)	RCV004774460 RCV002246511 RCV000167581 RCV000167582 RCV002249039 View all (30 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs754815893	RCV005913621	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs754815893	RCV005913622	★★★★★ ★★★★☆ 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.
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (87)

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	26081110, 32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	26081110, 32329585, 33112498, 40652483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	BEFREE	26099313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	32354323, 40652483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20541551, 26297544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20541551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31891870	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	27221955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30541556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35076175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	31542992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31690668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	28409271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33112498, 40652483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	BEFREE	27090768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28039521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	25125611, 25393721, 26000322, 26081110, 26099313, 26920905, 27090768, 27221955, 27905109, 28039521, 28106320, 28202214, 28409271, 28755360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	32354323, 33112498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	BEFREE	27090768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	27090768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	32329585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy	CTD_human_DG	25125611, 26099313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Juvenile	Encephalopathy	CTD_human_DG	25125611, 26099313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17395278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17395278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17395278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27221955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	19424620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	25125611, 28409271, 29575569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	25125611, 25393721, 26099313, 30848071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CTD_human_DG	25125611, 26099313		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	26081110, 29575569, 30029642, 32677908, 32777769, 33112498, 35962613, 40652483	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	BEFREE	31542992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15492826, 23178449, 23879543, 25760819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20541551, 26297544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25739098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	19424620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25338767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28878358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27090768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	35962613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	32329585, 32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	25393721		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	UNIPROT_DG	25125611, 25393721, 26000322, 26251176, 26741492, 27221955		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	CLINGEN_DG	25125611, 25393721, 26000322, 26081110, 26251176, 27905109, 8012501		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	CLINVAR_DG	26938784		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	36200804, 40652483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	25125611, 25393721, 26000322, 26081110, 26099313, 26920905, 27090768, 27221955, 27905109, 28039521, 28106320, 28202214, 28409271, 28755360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23879543, 25760819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26081110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic atrophy	Pubtator	32354323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ 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	26081110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	40652483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG	26938784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25338767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	19424620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	25338767, 33881965, 39328412	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ECHS1 (enoyl-CoA hydratase, short chain 1)