ENO3

Summary

ENO3 (enolase 3, HGNC:3354) is a protein-coding gene on chromosome 17p13.2, encoding Beta-enolase (P13929). Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis.

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 2027 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glycogen storage disease due to muscle beta-enolase deficiency (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 414 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 7
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_053013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3354
Approved symbol	ENO3
Name	enolase 3
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000108515
Ensembl biotype	protein_coding
OMIM	131370
Entrez	2027

Gene structure

Transcript identifiers

Ensembl transcripts: 48 — 41 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay

ENST00000323997, ENST00000518175, ENST00000518972, ENST00000519266, ENST00000519300, ENST00000519584, ENST00000519602, ENST00000519834, ENST00000520221, ENST00000521659, ENST00000521811, ENST00000522249, ENST00000522301, ENST00000522425, ENST00000522798, ENST00000522954, ENST00000571235, ENST00000896245, ENST00000896246, ENST00000896247, ENST00000896248, ENST00000896249, ENST00000896250, ENST00000896251, ENST00000896252, ENST00000896253, ENST00000896254, ENST00000896255, ENST00000896256, ENST00000927531, ENST00000927532, ENST00000927533, ENST00000927534, ENST00000927535, ENST00000969664, ENST00000969665, ENST00000969666, ENST00000969667, ENST00000969668, ENST00000969669, ENST00000969670, ENST00000969671, ENST00000969672, ENST00000969673, ENST00000969674, ENST00000969675, ENST00000969676, ENST00000969677

RefSeq mRNA: 5 — MANE Select: NM_053013 NM_001193503, NM_001374523, NM_001374524, NM_001976, NM_053013

CCDS: CCDS11062, CCDS54070

Canonical transcript exons

ENST00000519602 — 12 exons

Exon	Start	End
ENSE00000676427	4955407	4955604
ENSE00002126954	4951119	4951182
ENSE00002161731	4955942	4956143
ENSE00003514876	4953051	4953109
ENSE00003552248	4956573	4956681
ENSE00003573214	4955075	4955297
ENSE00003585178	4956831	4956889
ENSE00003590855	4953272	4953341
ENSE00003596339	4952795	4952890
ENSE00003786745	4953712	4953845
ENSE00003799520	4951828	4951914
ENSE00003898334	4956978	4957129

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.7064 / max 7752.6791, expressed in 1623 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158991	29.5571	522
208037	2.0444	1170
158993	0.6705	78
158988	0.6446	335
158992	0.4950	53
158989	0.4757	232
158990	0.3663	112
158987	0.3186	173
158998	0.0629	16
158995	0.0435	14

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.96	gold quality
biceps brachii	UBERON:0001507	99.92	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.89	gold quality
triceps brachii	UBERON:0001509	99.88	gold quality
gluteal muscle	UBERON:0002000	99.85	gold quality
diaphragm	UBERON:0001103	99.80	gold quality
apex of heart	UBERON:0002098	99.69	gold quality
gastrocnemius	UBERON:0001388	99.68	gold quality
body of tongue	UBERON:0011876	99.68	gold quality
heart right ventricle	UBERON:0002080	99.02	gold quality
vastus lateralis	UBERON:0001379	98.78	gold quality
heart left ventricle	UBERON:0002084	98.74	gold quality
cardiac ventricle	UBERON:0002082	98.73	gold quality
right atrium auricular region	UBERON:0006631	98.61	gold quality
muscle of leg	UBERON:0001383	98.40	gold quality
muscle organ	UBERON:0001630	98.23	gold quality
skeletal muscle tissue	UBERON:0001134	98.21	gold quality
right lobe of liver	UBERON:0001114	97.26	gold quality
quadriceps femoris	UBERON:0001377	97.24	gold quality
heart	UBERON:0000948	96.52	gold quality
cardiac atrium	UBERON:0002081	96.21	gold quality
granulocyte	CL:0000094	95.83	gold quality
muscle tissue	UBERON:0002385	93.99	gold quality
deltoid	UBERON:0001476	93.85	gold quality
metanephros cortex	UBERON:0010533	93.33	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.43	gold quality
liver	UBERON:0002107	91.70	gold quality
mucosa of transverse colon	UBERON:0004991	91.67	gold quality
tongue	UBERON:0001723	90.89	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	33582.86
E-MTAB-7407	yes	12093.06
E-GEOD-124472	yes	1574.23
E-MTAB-9543	yes	33.02
E-MTAB-8060	no	45.78
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXC1, NFIX, NR4A1, PAX7, SP3, ZNF148

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

• Pyridoxamine and carnosine protected enolase against the total loss of catalytic activity. (PMID:21347838)
• Molecular genetic analysis of ENO3 gene revealed two novel homozygous missense mutations, (p.Asn151Ser and p.Glu187Lys)in patients presenting with recurrent rhabdomyolysis. (PMID:25267339)
• tRK1 forms a complex with human enolases and interacts with tRK1 and human pre-lysyl-tRNA synthetase (preKARS2) (PMID:25918939)
• Enolase 3 (ENO3) overexpression under serine/threonine kinase 11 (STK11) loss-of-function mutations implies that ENO3 might be a selective anticancer target in STK11-mutant cancer. (PMID:31697874)
• ENO3 promotes colorectal cancer progression by enhancing cell glycolysis. (PMID:35477821)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eno3	ENSDARG00000039007
mus_musculus	Eno3	ENSMUSG00000060600
rattus_norvegicus	Eno3	ENSRNOG00000004078
drosophila_melanogaster	Eno	FBGN0000579
caenorhabditis_elegans		WBGENE00011884

Paralogs (3): ENO1 (ENSG00000074800), ENO2 (ENSG00000111674), ENO4 (ENSG00000188316)

Protein

Protein identifiers

Beta-enolase — P13929 (reviewed: P13929)

Alternative names: 2-phospho-D-glycerate hydro-lyase, Enolase 3, Muscle-specific enolase, Skeletal muscle enolase

All UniProt accessions (8): P13929, E5RG95, E5RGZ4, E5RI09, E5RJH5, K7EKN2, K7EP84, K7EPM1

UniProt curated annotations — full annotation on UniProt →

Function. Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis. Appears to have a function in striated muscle development and regeneration.

Subunit / interactions. Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. Interacts with PNKD.

Subcellular location. Cytoplasm.

Tissue specificity. The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons.

Disease relevance. Glycogen storage disease 13 (GSD13) [MIM:612932] A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Mg(2+) is required for catalysis and for stabilizing the dimer.

Pathway. Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5.

Similarity. Belongs to the enolase family.

Isoforms (3)

UniProt ID	Names	Canonical?
P13929-1	1	yes
P13929-2	2
P13929-3	3

RefSeq proteins (5): NP_001180432, NP_001361452, NP_001361453, NP_001967, NP_443739* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000941	Enolase	Family
IPR020809	Enolase_CS	Conserved_site
IPR020810	Enolase_C	Domain
IPR020811	Enolase_N	Domain
IPR029017	Enolase-like_N	Homologous_superfamily
IPR036849	Enolase-like_C_sf	Homologous_superfamily

Pfam: PF00113, PF03952

Catalyzed reactions (Rhea), 1 shown:

• (2R)-2-phosphoglycerate = phosphoenolpyruvate + H2O (RHEA:10164)

UniProt features (65 total): helix 20, strand 13, binding site 9, modified residue 9, sequence variant 4, turn 4, active site 2, splice variant 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2XSX	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13929-F1	97.63	0.98

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 210 (proton donor); 343 (proton acceptor)

Ligand- & substrate-binding residues (9): 318; 370–373; 394; 158; 167; 245; 293; 293; 318

Post-translational modifications (9): 2, 72, 83, 157, 176, 205, 229, 236, 263

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-70171	Glycolysis
R-HSA-70263	Gluconeogenesis

MSigDB gene sets: 294 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, CREL_01, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, MYOGENIN_Q6, RORA1_01, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, USF_C

GO Biological Process (4): gluconeogenesis (GO:0006094), glycolytic process (GO:0006096), canonical glycolysis (GO:0061621), substantia nigra development (GO:0021762)

GO Molecular Function (5): magnesium ion binding (GO:0000287), phosphopyruvate hydratase activity (GO:0004634), protein binding (GO:0005515), lyase activity (GO:0016829), metal ion binding (GO:0046872)

GO Cellular Component (7): phosphopyruvate hydratase complex (GO:0000015), obsolete extracellular space (GO:0005615), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glucose metabolism	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
glucose metabolic process	1
hexose biosynthetic process	1
phosphoglycerate kinase activity	1
phosphoglycerate mutase activity	1
phosphopyruvate hydratase activity	1
pyruvate kinase activity	1
pyruvate metabolic process	1
generation of precursor metabolites and energy	1
aerobic respiration	1
carbohydrate catabolic process	1
pyridine nucleotide catabolic process	1
glyceraldehyde-3-phosphate dehydrogenase [NAD(P)+] (phosphorylating) activity	1
ADP catabolic process	1
ATP metabolic process	1
nicotinamide nucleotide metabolic process	1
glucokinase activity	1
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	1
glucose catabolic process	1
glycolytic process through glucose-6-phosphate	1
midbrain development	1
neural nucleus development	1
metal ion binding	1
hydro-lyase activity	1
binding	1
catalytic activity	1
cation binding	1
cytosol	1
catalytic complex	1
cytoplasm	1
membrane	1
cell periphery	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

4422 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ENO3	ALDOA	P04075	805
ENO3	PGM1	P36871	773
ENO3	PGAM2	P15259	741
ENO3	TPI1	P00938	728
ENO3	CKM	P06732	714
ENO3	PGAM1	P18669	706
ENO3	PGAM4	Q8N0Y7	702
ENO3	MYH1	P12882	691
ENO3	AK2	P54819	676
ENO3	J3KPS3	J3KPS3	672
ENO3	PGK1	P00558	668
ENO3	PFKM	P08237	653
ENO3	PYGM	P11217	643
ENO3	ALDOC	P09972	626
ENO3	PKM	P14618	610

IntAct

56 interactions, top by confidence:

A	B	Type	Score
ENO1	ENO2	psi-mi:“MI:0914”(association)	0.710
ENO2	ENO1	psi-mi:“MI:0914”(association)	0.710
ENO3	ENO1	psi-mi:“MI:0915”(physical association)	0.560
DLD	PDHB	psi-mi:“MI:0914”(association)	0.530
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
	VAPB	psi-mi:“MI:0914”(association)	0.500
PDE4DIP	ENO3	psi-mi:“MI:0915”(physical association)	0.440
ENO3	PDE4DIP	psi-mi:“MI:0403”(colocalization)	0.440
HSPB2	ENO3	psi-mi:“MI:0915”(physical association)	0.370
Cep152	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
DLD	NFKBIE	psi-mi:“MI:0914”(association)	0.350
DLST		psi-mi:“MI:0914”(association)	0.350
HSD17B10	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
SOD1	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
DLD	EIF3D	psi-mi:“MI:0914”(association)	0.350
HSD17B10	HNRNPDL	psi-mi:“MI:0914”(association)	0.350
DLD	IRS4	psi-mi:“MI:0914”(association)	0.350
SOD1	PGK1	psi-mi:“MI:0914”(association)	0.350
CAMK2D	OGT	psi-mi:“MI:0914”(association)	0.350
IQCB1	PCP4L1	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (152): ENO3 (Affinity Capture-MS), AKR1B1 (Co-fractionation), ATP5J (Co-fractionation), CALR (Co-fractionation), CAT (Co-fractionation), DUT (Co-fractionation), EEF1A1 (Co-fractionation), ENO2 (Co-fractionation), ENO3 (Co-fractionation), ENO3 (Co-fractionation), ENO3 (Co-fractionation), ENO3 (Co-fractionation), ENO3 (Co-fractionation), ENO3 (Co-fractionation), ENO3 (Co-fractionation)

ESM2 similar proteins: A0KU82, A3QC77, A5FRM5, A6GZ69, A8FSS8, A9NF93, B0S8S8, B0SRL5, B1JB38, B1KPT6, B3PJB3, B5DGQ7, I0J1J1, P04764, P06733, P13929, P17182, P26300, P30575, P33676, P42896, P51913, Q01YD1, Q04SI9, Q050L5, Q0HL72, Q0HXH0, Q12PZ4, Q15QR6, Q27655, Q27877, Q3KH92, Q3Z8W4, Q3ZX11, Q48F79, Q4KHF6, Q4R5L2, Q4ZWQ8, Q5R6Y1, Q6MPQ2

Diamond homologs: A0A509AQ68, A6LJF0, A6TU30, B5DGQ7, B6YUB8, B7IFN4, C1KY94, C5A2S7, I0J1J1, O02654, O57391, O59605, O74286, P00924, P00925, P04764, P06733, P07322, P07323, P08734, P09104, P0CX10, P0CX11, P13929, P15007, P15429, P17182, P17183, P19140, P21550, P25696, P25704, P26300, P26301, P30575, P31683, P33676, P40370, P42040, P42222

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
“MYOD1/SWI/SNF complex”	“up-regulates quantity by expression”	ENO3	“transcriptional regulation”
ENO3	“up-regulates quantity”	phosphonatoenolpyruvate	“chemical modification”
ENO3	“down-regulates quantity”	2-phosphonato-D-glycerate(3-)	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 58 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Glycolysis	5	31.7×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
canonical glycolysis	5	71.7×	2e-06
glycolytic process	6	46.9×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

414 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	195
Likely benign	160
Benign	28

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1285634	NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr)	Pathogenic
916552	NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs)	Pathogenic
1163998	NM_053013.4(ENO3):c.157del (p.Asp53fs)	Likely pathogenic
3068091	NM_053013.4(ENO3):c.1176+2T>C	Likely pathogenic

SpliceAI

1931 predictions. Top by Δscore:

Variant	Effect	Δscore
17:4951826:A:AG	acceptor_gain	1.0000
17:4951827:G:GG	acceptor_gain	1.0000
17:4951827:GCC:G	acceptor_gain	1.0000
17:4951827:GCCAT:G	acceptor_gain	1.0000
17:4951913:GG:G	donor_gain	1.0000
17:4951914:GG:G	donor_gain	1.0000
17:4953212:T:G	acceptor_gain	1.0000
17:4953256:A:AG	acceptor_gain	1.0000
17:4953340:GT:G	donor_gain	1.0000
17:4953342:G:GG	donor_gain	1.0000
17:4953710:A:AG	acceptor_gain	1.0000
17:4953711:G:GG	acceptor_gain	1.0000
17:4953711:GCCAA:G	acceptor_gain	1.0000
17:4953842:GCCA:G	donor_gain	1.0000
17:4953846:G:GG	donor_gain	1.0000
17:4955296:GG:G	donor_gain	1.0000
17:4955297:GG:G	donor_gain	1.0000
17:4955403:CCAGC:C	acceptor_loss	1.0000
17:4955404:CAG:C	acceptor_loss	1.0000
17:4955405:A:AG	acceptor_gain	1.0000
17:4955406:G:GT	acceptor_gain	1.0000
17:4955406:GC:G	acceptor_gain	1.0000
17:4955406:GCC:G	acceptor_gain	1.0000
17:4955406:GCCC:G	acceptor_gain	1.0000
17:4955406:GCCCT:G	acceptor_gain	1.0000
17:4955504:G:GT	donor_gain	1.0000
17:4955504:G:T	donor_gain	1.0000
17:4955573:GCT:G	donor_gain	1.0000
17:4955601:CCTGG:C	donor_loss	1.0000
17:4955602:CTGG:C	donor_loss	1.0000

AlphaMissense

1843 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:4951873:G:C	R15T	1.000
17:4951873:G:T	R15M	1.000
17:4951874:G:C	R15S	1.000
17:4951874:G:T	R15S	1.000
17:4952821:G:A	G38R	1.000
17:4952821:G:C	G38R	1.000
17:4952821:G:T	G38W	1.000
17:4952822:G:A	G38E	1.000
17:4952844:G:C	E45D	1.000
17:4952844:G:T	E45D	1.000
17:4955083:T:A	N151K	1.000
17:4955083:T:G	N151K	1.000
17:4955092:C:A	N154K	1.000
17:4955092:C:G	N154K	1.000
17:4955093:G:T	G155W	1.000
17:4955094:G:A	G155E	1.000
17:4955094:G:T	G155V	1.000
17:4955102:C:G	H158D	1.000
17:4955104:T:A	H158Q	1.000
17:4955104:T:G	H158Q	1.000
17:4955128:G:C	Q166H	1.000
17:4955128:G:T	Q166H	1.000
17:4955130:A:T	E167V	1.000
17:4955252:G:C	G208R	1.000
17:4955261:G:C	G211R	1.000
17:4955274:C:A	P215H	1.000
17:4955472:G:C	D245H	1.000
17:4955473:A:C	D245A	1.000
17:4955473:A:T	D245V	1.000
17:4951866:G:C	D13H	0.999

dbSNP variants (sampled 300 via entrez): RS1000193829 (17:4948143 G>A,C,T), RS1000649118 (17:4947960 T>C), RS1000983970 (17:4954890 C>A,T), RS1001243515 (17:4947457 A>C), RS1001247393 (17:4948788 C>T), RS1001593862 (17:4949021 G>C,T), RS1001631432 (17:4953518 C>A,G,T), RS1002072644 (17:4953886 A>C), RS1002162944 (17:4949095 G>A), RS1002198573 (17:4949953 G>A,C), RS1002639077 (17:4954687 G>A), RS1002657497 (17:4949773 C>T), RS1002689719 (17:4954485 G>A), RS1002743303 (17:4951513 C>T), RS1002817546 (17:4947282 G>A,C,T)

Disease associations

OMIM: gene MIM:131370 | disease phenotypes: MIM:612932

GenCC curated gene-disease

Disease	Classification	Inheritance
glycogen storage disease due to muscle beta-enolase deficiency	Strong	Autosomal recessive

Mondo (1): glycogen storage disease due to muscle beta-enolase deficiency (MONDO:0013046)

Orphanet (1): Glycogen storage disease due to muscle beta-enolase deficiency (Orphanet:99849)

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003326	Myalgia
HP:0003546	Exercise intolerance
HP:0003581	Adult onset
HP:0009051	Increased muscle glycogen content
HP:0034633	Reduced muscle enolase activity

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002404_348	Red cell distribution width	1.000000e-09
GCST90013442_27	Keratoconus	2.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567861	Glycogen Storage Disease XIII (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

70 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	3
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	affects expression, affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression, decreases methylation	3
Valproic Acid	affects cotreatment, decreases expression	3
Cyclosporine	decreases expression	3
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Estradiol	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
daidzein	decreases expression	1
propionaldehyde	increases expression	1
glycidyl methacrylate	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
dinophysistoxin 1	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
entinostat	increases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
obeticholic acid	increases expression	1
perfluorohexanesulfonic acid	decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.