GLYCTK

Summary

GLYCTK (glycerate kinase, HGNC:24247) is a protein-coding gene on chromosome 3p21.2, encoding Glycerate kinase (Q8IVS8).

This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 132158 — RefSeq curated summary.

At a glance

• Gene–disease (curated): D-glyceric aciduria (Strong, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 247 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 61
• MANE Select transcript: NM_145262

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24247
Approved symbol	GLYCTK
Name	glycerate kinase
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Aliases	HBEBP4, HBEBP2
Ensembl gene	ENSG00000168237
Ensembl biotype	protein_coding
OMIM	610516
Entrez	132158

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000436784, ENST00000461183, ENST00000471180, ENST00000473032, ENST00000473583, ENST00000477382, ENST00000486393, ENST00000489173, ENST00000863513, ENST00000863514, ENST00000863515, ENST00000863516, ENST00000863517, ENST00000969819

RefSeq mRNA: 2 — MANE Select: NM_145262 NM_001144951, NM_145262

CCDS: CCDS2852, CCDS46841

Canonical transcript exons

ENST00000436784 — 5 exons

Exon	Start	End
ENSE00001179873	52291747	52291922
ENSE00001873996	52290304	52290719
ENSE00001907856	52292260	52295257
ENSE00001937607	52287828	52287876
ENSE00003521684	52290960	52291111

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 98.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2782 / max 206.2583, expressed in 1806 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36838	12.4707	1806
36840	0.7205	112
36839	0.0869	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.99	gold quality
liver	UBERON:0002107	96.58	gold quality
mucosa of transverse colon	UBERON:0004991	96.02	gold quality
ileal mucosa	UBERON:0000331	93.10	gold quality
kidney epithelium	UBERON:0004819	92.70	silver quality
duodenum	UBERON:0002114	91.60	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.38	gold quality
small intestine	UBERON:0002108	89.46	gold quality
granulocyte	CL:0000094	89.36	gold quality
pancreatic ductal cell	CL:0002079	88.11	silver quality
adult mammalian kidney	UBERON:0000082	87.65	gold quality
jejunal mucosa	UBERON:0000399	87.51	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.36	gold quality
transverse colon	UBERON:0001157	87.31	gold quality
metanephros cortex	UBERON:0010533	85.47	gold quality
omental fat pad	UBERON:0010414	84.25	gold quality
cortex of kidney	UBERON:0001225	84.22	gold quality
peritoneum	UBERON:0002358	84.18	gold quality
kidney	UBERON:0002113	84.15	gold quality
body of stomach	UBERON:0001161	83.50	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.39	gold quality
blood	UBERON:0000178	82.85	gold quality
right adrenal gland	UBERON:0001233	82.09	gold quality
spleen	UBERON:0002106	82.04	gold quality
apex of heart	UBERON:0002098	81.84	gold quality
intestine	UBERON:0000160	81.81	gold quality
stomach	UBERON:0000945	81.31	gold quality
left adrenal gland	UBERON:0001234	81.30	gold quality
leukocyte	CL:0000738	81.21	gold quality
bone marrow cell	CL:0002092	81.21	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.63
E-MTAB-6379	no	86.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting GLYCTK, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-143-5P	98.98	68.87	946
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-4755-3P	98.77	65.59	1915

Literature-anchored findings (GeneRIF, showing 2)

• Identification of two variants of the human glycerate kinase gene-Glycerate kinase 1 (GLYCTK1), longer variant, and Glycerate kinase 2 (GLYCTK2), shorter variant. (PMID:16753811)
• Mutations in the GLYCTK gene is the cause of D-glycerate kinase deficiency and D-glyceric aciduria. (PMID:20949620)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	glyctk	ENSDARG00000060120
mus_musculus	Glyctk	ENSMUSG00000020258
rattus_norvegicus	Glyctk	ENSRNOG00000046307
drosophila_melanogaster	CG9886	FBGN0031428
caenorhabditis_elegans		WBGENE00015733

Protein

Protein identifiers

Glycerate kinase — Q8IVS8 (reviewed: Q8IVS8)

Alternative names: HBeAg-binding protein 4

All UniProt accessions (4): A0A0C4DGA0, C9J3N5, C9JA32, Q8IVS8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm Cytoplasm. Mitochondrion.

Tissue specificity. Widely expressed.

Disease relevance. D-glyceric aciduria (D-GA) [MIM:220120] A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe intellectual disability and early death, to milder manifestations with only speech delay or even normal development. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the glycerate kinase type-2 family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q8IVS8-1	1, Glycerate kinase 1, GLYCTK1	yes
Q8IVS8-2	2, Glycerate kinase 2, GLYCTK2
Q8IVS8-3	3
Q8IVS8-4	4
Q8IVS8-5	5
Q8IVS8-6	6
Q8IVS8-7	7

RefSeq proteins (2): NP_001138423, NP_660305* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007835	MOFRL	Domain
IPR025286	MOFRL_assoc_dom	Domain
IPR037035	GK-like_C_sf	Homologous_superfamily
IPR038614	GK_N_sf	Homologous_superfamily
IPR039760	MOFRL_protein	Family

Pfam: PF05161, PF13660

Enzyme classification (BRENDA):

• EC 2.7.1.31 — glycerate 3-kinase (BRENDA: 18 organisms, 19 substrates, 19 inhibitors, 20 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
D-GLYCERATE	0.104–0.45	10
ATP	0.13–707	9

Catalyzed reactions (Rhea), 1 shown:

• (R)-glycerate + ATP = (2R)-3-phosphoglycerate + ADP + H(+) (RHEA:23516)

UniProt features (22 total): splice variant 10, sequence variant 8, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVS8-F1	90.32	0.82

Functional residue map

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

Post-translational modifications (1): 60

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-70350	Fructose catabolism

MSigDB gene sets: 221 (showing top): GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GCM_DDX11, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOBP_ALDEHYDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_CATABOLIC_PROCESS, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, KEGG_GLYCEROLIPID_METABOLISM, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, GOBP_FRUCTOSE_METABOLIC_PROCESS, POS_RESPONSE_TO_HISTAMINE_DN, GOMF_KINASE_ACTIVITY, GCM_USP6

GO Biological Process (2): protein phosphorylation (GO:0006468), obsolete fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate (GO:0061624)

GO Molecular Function (6): ATP binding (GO:0005524), glycerate kinase activity (GO:0008887), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (4): cytoplasm (GO:0005737), mitochondrion (GO:0005739), Golgi apparatus (GO:0005794), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Fructose metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
phosphorylation	1
protein modification process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular anatomical structure	1
endomembrane system	1

Protein interactions and networks

STRING

856 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GLYCTK	TKFC	Q3LXA3	966
GLYCTK	SHMT1	P34896	568
GLYCTK	SHMT2	P34897	561
GLYCTK	GRHPR	Q9UBQ7	554
GLYCTK	AGXT	P21549	542
GLYCTK	HYI	Q5T013	530
GLYCTK	RBFA	Q8N0V3	443
GLYCTK	ZNF891	A8MT65	434
GLYCTK	TM4SF5	O14894	426
GLYCTK	SPATA31D3	P0C874	419
GLYCTK	MOCS1	Q9NZB8	404
GLYCTK	PGP	A6NDG6	398
GLYCTK	PSPH	P78330	392
GLYCTK	SUOX	P51687	381
GLYCTK	BTD	P43251	373

IntAct

198 interactions, top by confidence:

A	B	Type	Score
TRIP13	GLYCTK	psi-mi:“MI:0915”(physical association)	0.840
GLYCTK	TRIP13	psi-mi:“MI:0915”(physical association)	0.840
GLYCTK	GOLGA2	psi-mi:“MI:0915”(physical association)	0.720
GLYCTK	DTX2	psi-mi:“MI:0915”(physical association)	0.720
DTX2	GLYCTK	psi-mi:“MI:0915”(physical association)	0.720
GOLGA2	GLYCTK	psi-mi:“MI:0915”(physical association)	0.720
GLYCTK	MIS18A	psi-mi:“MI:0915”(physical association)	0.600
MIS18A	GLYCTK	psi-mi:“MI:0915”(physical association)	0.600
GLYCTK	TRIM42	psi-mi:“MI:0915”(physical association)	0.560
SAXO1	GLYCTK	psi-mi:“MI:0915”(physical association)	0.560
GLYCTK	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
KRT15	GLYCTK	psi-mi:“MI:0915”(physical association)	0.560
REL	GLYCTK	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO2	GLYCTK	psi-mi:“MI:0915”(physical association)	0.560
KLHL12	GLYCTK	psi-mi:“MI:0915”(physical association)	0.560
RBPMS	GLYCTK	psi-mi:“MI:0915”(physical association)	0.560
GLYCTK	TUBGCP4	psi-mi:“MI:0915”(physical association)	0.560
GLYCTK	SAXO1	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	GLYCTK	psi-mi:“MI:0915”(physical association)	0.560
GLYCTK	KRT15	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (69): GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), FAM154A (Two-hybrid), TRIM42 (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid), GLYCTK (Two-hybrid)

ESM2 similar proteins: A0JNU3, A1A4L8, A2BDX3, A5GFZ6, A6NK58, A6QQ74, O19179, O43542, O60294, O95336, O95396, P19971, P85971, Q02846, Q05922, Q08DH8, Q0VFH3, Q28F19, Q29R99, Q2TBQ8, Q2V057, Q3SZ07, Q3UQ84, Q561R2, Q5ZKI2, Q68FW7, Q6PAT0, Q6QHF9, Q86U10, Q86WU2, Q86Y79, Q8BW00, Q8IVS8, Q8N8Q3, Q8R123, Q8VCZ9, Q8VDG5, Q8WV74, Q8WVB3, Q8WZ82

Diamond homologs: O58231, P70788, Q08BL7, Q09235, Q0VGK3, Q2KJF7, Q44472, Q6KZ25, Q8IVS8, Q8QZY2, Q96YZ3, Q9BE01, Q9X1S1, Q9VQC4

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
GLYCTK	“down-regulates quantity”	D-glycerate	“chemical modification”
GLYCTK	“up-regulates quantity”	3-phosphonato-D-glycerate(3-)	“chemical modification”
MAPK3	“up-regulates quantity by stabilization”	GLYCTK	phosphorylation
STUB1	“down-regulates quantity by destabilization”	GLYCTK	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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
Keratinization	8	13.1×	1e-05
Formation of the cornified envelope	5	12.9×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	5	22.3×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	140
Likely benign	73
Benign	8

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
2653876	NM_145262.4(GLYCTK):c.725_731del (p.Ser242fs)	Pathogenic
92241	NM_145262.4(GLYCTK):c.1448del (p.Phe483fs)	Pathogenic
92242	NM_145262.4(GLYCTK):c.1558del (p.Leu520fs)	Pathogenic
1190244	NM_145262.4(GLYCTK):c.239dup (p.Asn80fs)	Likely pathogenic
4533359	NM_145262.4(GLYCTK):c.615T>A (p.Arg205=)	Likely pathogenic

SpliceAI

862 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52290717:GCA:G	donor_gain	1.0000
3:52290720:G:GG	donor_gain	1.0000
3:52290956:CCA:C	acceptor_loss	1.0000
3:52290958:A:AC	acceptor_loss	1.0000
3:52290958:A:AG	acceptor_gain	1.0000
3:52290958:AG:A	acceptor_gain	1.0000
3:52290959:G:GG	acceptor_gain	1.0000
3:52290959:GG:G	acceptor_gain	1.0000
3:52290959:GGGA:G	acceptor_gain	1.0000
3:52291109:CAG:C	donor_loss	1.0000
3:52291110:AG:A	donor_loss	1.0000
3:52291111:GG:G	donor_loss	1.0000
3:52291112:G:GG	donor_loss	1.0000
3:52291113:T:G	donor_loss	1.0000
3:52292257:CAGG:C	acceptor_loss	1.0000
3:52292258:AGGT:A	acceptor_gain	1.0000
3:52292259:GGTG:G	acceptor_gain	1.0000
3:52287872:GGCTG:G	donor_gain	0.9900
3:52287873:GCTG:G	donor_gain	0.9900
3:52287873:GCTGG:G	donor_gain	0.9900
3:52287874:CTGG:C	donor_loss	0.9900
3:52287876:GGT:G	donor_loss	0.9900
3:52287877:GTA:G	donor_loss	0.9900
3:52287878:T:A	donor_loss	0.9900
3:52290958:AGG:A	acceptor_gain	0.9900
3:52290959:GGG:G	acceptor_gain	0.9900
3:52291790:ACT:A	acceptor_gain	0.9900
3:52291792:T:A	acceptor_gain	0.9900
3:52291865:G:GT	donor_gain	0.9900
3:52292254:CCCCA:C	acceptor_loss	0.9900

AlphaMissense

3321 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52292266:A:C	S238R	0.997
3:52292268:C:A	S238R	0.997
3:52292268:C:G	S238R	0.997
3:52292314:A:C	S254R	0.995
3:52292316:T:A	S254R	0.995
3:52292316:T:G	S254R	0.995
3:52290602:G:T	G87V	0.993
3:52290673:A:C	S111R	0.993
3:52290675:C:A	S111R	0.993
3:52290675:C:G	S111R	0.993
3:52291864:G:C	R216P	0.993
3:52290596:G:A	G85D	0.991
3:52291765:T:C	L183P	0.991
3:52291897:T:A	L227Q	0.991
3:52291909:C:A	A231D	0.991
3:52292318:G:A	G255D	0.991
3:52291786:T:A	V190D	0.990
3:52292312:C:A	A253D	0.990
3:52292321:C:A	P256H	0.990
3:52290677:T:A	V112D	0.989
3:52290602:G:A	G87D	0.988
3:52291094:T:C	L171P	0.988
3:52291886:G:C	K223N	0.988
3:52291886:G:T	K223N	0.988
3:52290595:G:C	G85R	0.987
3:52291918:C:A	A234D	0.987
3:52291856:C:A	N213K	0.986
3:52291856:C:G	N213K	0.986
3:52291897:T:C	L227P	0.985
3:52292321:C:G	P256R	0.985

dbSNP variants (sampled 300 via entrez): RS1000301029 (3:52295347 C>T), RS1000932327 (3:52288486 A>G,T), RS1001538584 (3:52290901 A>C,G,T), RS1001591734 (3:52293507 T>A,G), RS1002373454 (3:52290246 G>A,C,T), RS1002727894 (3:52290498 C>A,T), RS1002819752 (3:52294795 G>A), RS1002892815 (3:52288140 G>A,C,T), RS1002995992 (3:52287816 C>T), RS1004207780 (3:52287428 C>A,T), RS1004368692 (3:52292953 C>T), RS1005167807 (3:52288716 C>G,T), RS1005332037 (3:52288701 G>C), RS1005559983 (3:52286436 A>C,G), RS1005779260 (3:52286201 T>A,C)

Disease associations

OMIM: gene MIM:610516 | disease phenotypes: MIM:220120

GenCC curated gene-disease

Disease	Classification	Inheritance
D-glyceric aciduria	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
D-glyceric aciduria	Moderate	AR

Mondo (1): D-glyceric aciduria (MONDO:0009070)

Orphanet (1): D-glyceric aciduria (Orphanet:941)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000054	Micropenis
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000490	Deeply set eye
HP:0000609	Optic nerve hypoplasia
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000954	Single transverse palmar crease
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001298	Encephalopathy
HP:0001319	Neonatal hypotonia
HP:0001336	Myoclonus
HP:0001347	Hyperreflexia
HP:0001348	Brisk reflexes
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001643	Patent ductus arteriosus
HP:0001662	Bradycardia
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0002020	Gastroesophageal reflux
HP:0002069	Bilateral tonic-clonic seizure
HP:0002072	Chorea

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001241_15	Bipolar disorder	2.000000e-06
GCST002149_14	Schizophrenia	1.000000e-08
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_201	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST004946_141	Schizophrenia	5.000000e-13
GCST010083_348	Hemoglobin levels	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535767	D-glycericacidemia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects expression, decreases expression, decreases methylation	4
bisphenol A	affects expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
methyleugenol	decreases expression	1
propionaldehyde	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Fulvestrant	increases methylation	1
Microplastics	increases abundance, increases expression	1
Acetaminophen	decreases expression	1
Aldehydes	decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, increases expression	1
Diclofenac	affects expression	1
Hydrogen Peroxide	affects expression	1
Lead	increases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Phthalic Acids	increases methylation	1

Clinical trials (associated diseases)

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