VGLL2

Summary

VGLL2 (vestigial like family member 2, HGNC:20232) is a protein-coding gene on chromosome 6q22.1, encoding Transcription cofactor vestigial-like protein 2 (Q8N8G2). May act as a specific coactivator for the mammalian TEFs.

This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed.

Source: NCBI Gene 245806 — RefSeq curated summary.

At a glance

• Gene–disease (curated): isolated congenital syngnathia (Strong, GenCC)
• GWAS associations: 20
• Clinical variants (ClinVar): 66 total
• GTEx eGene: eQTL in 9 tissues, sQTL in 1 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.22 (unconstrained)
• MANE Select transcript: NM_182645

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20232
Approved symbol	VGLL2
Name	vestigial like family member 2
Location	6q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170162
Ensembl biotype	protein_coding
OMIM	609979
Entrez	245806

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000326274

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2

ENST00000326274, ENST00000352536, ENST00000963224, ENST00000963225, ENST00001012201, ENST00001128657, ENST00001128658, ENST00001128659

RefSeq mRNA: 2 — MANE Select: NM_182645 NM_153453, NM_182645

CCDS: CCDS5114, CCDS5115

Canonical transcript exons

ENST00000326274 — 4 exons

Exon	Start	End
ENSE00001125990	117268182	117268491
ENSE00001229738	117270543	117271064
ENSE00001343964	117265558	117265844
ENSE00001397066	117272454	117273565

Expression profiles

Bgee: expression breadth broad, 86 present calls, max score 97.25.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9496 / max 160.9558, expressed in 135 samples.

Highest expression (Bgee): skeletal muscle tissue of rectus abdominis, hindlimb stylopod muscle, tibialis anterior, skeletal muscle tissue, biceps brachii.

Genetic regulation across tissues (GTEx eQTL / sQTL)

VGLL2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 9 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

10 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Adipose Visceral Omentum	eqtl	2.9e-42	+1.12	6:117270456:G:C
Brain Spinal cord cervical c-1	eqtl	6.9e-17	+1.24	6:117270124:G:A
Esophagus Mucosa	eqtl	5.4e-11	+1.64	6:117197226:G:C
Brain Substantia nigra	eqtl	4.1e-09	+0.94	6:117270456:G:C
Minor Salivary Gland	eqtl	8.7e-07	+0.55	6:116975247:G:T
Heart Atrial Appendage	eqtl	1.5e-05	+0.34	6:117204822:C:G
Skin Not Sun Exposed Suprapubic	eqtl	6.4e-05	+0.28	6:116973965:G:A
Skin Sun Exposed Lower leg	eqtl	1.4e-03	+0.19	6:116972485:C:G
Muscle Skeletal	sqtl	3.1e-03	-0.28	6:117272042:A:G
Brain Cerebellum	eqtl	1.6e-02	-0.46	6:117310503:T:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
69445	0.9496	135

Top tissues by expression

showing 100 of 225 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.13	gold quality
tibialis anterior	UBERON:0001385	95.83	gold quality
skeletal muscle tissue	UBERON:0001134	95.74	gold quality
biceps brachii	UBERON:0001507	95.69	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.36	gold quality
quadriceps femoris	UBERON:0001377	95.22	gold quality
vastus lateralis	UBERON:0001379	94.98	gold quality
deltoid	UBERON:0001476	94.62	gold quality
gastrocnemius	UBERON:0001388	94.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.96	gold quality
muscle of leg	UBERON:0001383	92.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.18	silver quality
muscle tissue	UBERON:0002385	89.21	gold quality
left ventricle myocardium	UBERON:0006566	88.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.54	gold quality
upper arm skin	UBERON:0004263	85.71	gold quality
kidney epithelium	UBERON:0004819	82.01	gold quality
nasal cavity epithelium	UBERON:0005384	73.74	gold quality
pancreatic ductal cell	CL:0002079	73.46	silver quality
body of tongue	UBERON:0011876	72.63	gold quality
epithelial cell of pancreas	CL:0000083	69.27	gold quality
tongue	UBERON:0001723	69.14	gold quality
superficial temporal artery	UBERON:0001614	69.11	gold quality
epithelium of nasopharynx	UBERON:0001951	68.22	gold quality
ileal mucosa	UBERON:0000331	68.18	silver quality
cerebellar vermis	UBERON:0004720	66.18	gold quality
cardiac atrium	UBERON:0002081	65.44	gold quality
lateral nuclear group of thalamus	UBERON:0002736	65.44	silver quality
superior surface of tongue	UBERON:0007371	64.73	gold quality
right atrium auricular region	UBERON:0006631	64.17	gold quality
oocyte	CL:0000023	63.77	gold quality
synovial joint	UBERON:0002217	62.82	gold quality
layer of synovial tissue	UBERON:0007616	62.27	gold quality
subthalamic nucleus	UBERON:0001906	61.82	gold quality
substantia nigra pars reticulata	UBERON:0001966	61.58	gold quality
germinal epithelium of ovary	UBERON:0001304	61.51	gold quality
amniotic fluid	UBERON:0000173	61.48	gold quality
thymus	UBERON:0002370	60.33	gold quality
pharyngeal mucosa	UBERON:0000355	60.03	silver quality
cardia of stomach	UBERON:0001162	59.74	gold quality
substantia nigra pars compacta	UBERON:0001965	58.81	gold quality
jejunum	UBERON:0002115	58.62	gold quality
mucosa of paranasal sinus	UBERON:0005030	58.46	gold quality
tibia	UBERON:0000979	58.45	gold quality
ventral tegmental area	UBERON:0002691	58.37	gold quality
lateral globus pallidus	UBERON:0002476	58.36	gold quality
inferior vagus X ganglion	UBERON:0005363	58.35	gold quality
heart right ventricle	UBERON:0002080	58.24	gold quality
superior vestibular nucleus	UBERON:0007227	58.03	gold quality
pericardium	UBERON:0002407	57.98	gold quality
medulla oblongata	UBERON:0001896	57.69	gold quality
nipple	UBERON:0002030	57.64	gold quality
dorsal root ganglion	UBERON:0000044	57.47	gold quality
trigeminal ganglion	UBERON:0001675	57.43	gold quality
pylorus	UBERON:0001166	57.36	gold quality
pons	UBERON:0000988	57.33	gold quality
renal medulla	UBERON:0000362	57.30	gold quality
penis	UBERON:0000989	57.18	gold quality
saphenous vein	UBERON:0007318	56.73	gold quality
trabecular bone tissue	UBERON:0002483	56.52	silver quality
parietal pleura	UBERON:0002400	56.43	gold quality
epithelium of mammary gland	UBERON:0003244	56.21	gold quality
pigmented layer of retina	UBERON:0001782	56.10	gold quality
mammary duct	UBERON:0001765	56.02	gold quality
visceral pleura	UBERON:0002401	55.97	gold quality
trachea	UBERON:0003126	55.77	gold quality
vena cava	UBERON:0004087	55.64	gold quality
esophagus squamous epithelium	UBERON:0006920	55.34	gold quality
tendon of biceps brachii	UBERON:0008188	55.31	gold quality
oral cavity	UBERON:0000167	55.29	silver quality
Brodmann (1909) area 46	UBERON:0006483	54.58	gold quality
sperm	CL:0000019	54.50	gold quality
urethra	UBERON:0000057	53.95	gold quality
placenta	UBERON:0001987	53.74	gold quality
oviduct epithelium	UBERON:0004804	52.70	gold quality
heart	UBERON:0000948	51.95	gold quality
lower lobe of lung	UBERON:0008949	51.61	silver quality
parotid gland	UBERON:0001831	51.54	gold quality
decidua	UBERON:0002450	51.44	gold quality
spinal cord	UBERON:0002240	50.02	gold quality
skin of hip	UBERON:0001554	49.96	silver quality
seminal vesicle	UBERON:0000998	49.77	gold quality
tendon	UBERON:0000043	49.40	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	49.18	gold quality
cardiac ventricle	UBERON:0002082	49.11	gold quality
bronchus	UBERON:0002185	49.03	gold quality
heart left ventricle	UBERON:0002084	48.80	gold quality
bronchial epithelial cell	CL:0002328	48.67	gold quality
apex of heart	UBERON:0002098	47.22	gold quality
hypothalamus	UBERON:0001898	47.17	gold quality
sural nerve	UBERON:0015488	46.98	gold quality
globus pallidus	UBERON:0001875	46.82	gold quality
adult organism	UBERON:0007023	45.83	gold quality
mammalian vulva	UBERON:0000997	45.49	gold quality
entorhinal cortex	UBERON:0002728	45.31	gold quality
colonic mucosa	UBERON:0000317	44.41	gold quality
parietal lobe	UBERON:0001872	44.25	gold quality
medial globus pallidus	UBERON:0002477	43.96	gold quality
gingiva	UBERON:0001828	43.84	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.96

HPA expression

RNA tissue specificity: Tissue enriched

40 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Skeletal muscle	tissue	121.3
Tongue	tissue	28.7
Heart muscle	tissue	5.2
Prefrontal cortex	tissue	1.4
Cerebral cortex	tissue	1.4
Motor cortex	tissue	1.3
Midbrain	tissue	1.2
Hypothalamus	tissue	1.1
Corpus callosum	tissue	1.1
Retrosplenial and cingulate cortex	tissue	1.0
Retrosplenial cortex	tissue	0.9
Esophagus	tissue	0.8
Occipital cortex	tissue	0.6
Insular cortex	tissue	0.6
Pons	tissue	0.5
Medulla oblongata	tissue	0.5
Thalamus	tissue	0.5
Prostate	tissue	0.5
Somatosensory cortex	tissue	0.5
Testis	tissue	0.4
Spinal cord	tissue	0.4
Hippocampal formation	tissue	0.4
Entorhinal cortex	tissue	0.4
Temporal cortex	tissue	0.4
Basal ganglia	tissue	0.3
Putamen	tissue	0.3
Superior colliculi	tissue	0.3
Cerebellum	tissue	0.3
Substantia nigra	tissue	0.3
Skin 1	tissue	0.2
Postcentral gyrus	tissue	0.2
Ventral forebrain	tissue	0.2
Olfactory bulb	tissue	0.2
Septum	tissue	0.2
Seminal vesicle	tissue	0.1
Amygdala	tissue	0.1
Choroid plexus	tissue	0.1
Placenta	tissue	0.1
Hippocampus	tissue	0.1
Periaqueductal gray	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 168; highest nTPM — Ventromedial nucleus (4.7), Lateral geniculate body (4.4), Ventral posterolateral thalamic nucleus (4.2), Anterior thalamic nucleus, ventral (4.0), Pulvinar (3.8).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FEZF1, MEF2C, MYF5, MYOD1, MYOG, NR0B1, SATB2

miRNA regulators (miRDB)

Targeting VGLL2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 60 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-5689	99.50	71.26	1154
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-6731-5P	99.28	67.42	2375

Functional genomics

gnomAD constraint: pLI 5.83e-06, LOEUF 1.22, missense Z -2.64 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000326274 — one region, missense o/e 1.09.

Literature-anchored findings (GeneRIF, showing 5)

• role in promoting skeletal muscle differention (PMID:12376544)
• VITO-1 is a crucial new cofactor of the muscle regulatory programme (PMID:14762206)
• Identify novel and recurrent VGLL2-related fusions in pediatric spindle and sclerosing rhabdomyosarcomas. (PMID:26501226)
• A new perspective on the interaction between the Vg/VGLL1-3 proteins and the TEAD transcription factors. (PMID:33060790)
• VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis. (PMID:36656711)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	vgll2a	ENSDARG00000041706
mus_musculus	Vgll2	ENSMUSG00000049641
rattus_norvegicus	Vgll2	ENSRNOG00000000405
drosophila_melanogaster	vg	FBGN0003975

Paralogs (2): VGLL1 (ENSG00000102243), VGLL3 (ENSG00000206538)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2447460) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal skeletal muscle fiber type ratio	1
impaired exercise endurance	1

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
RFX6	protein-coding	222546
ROS1	protein-coding	6098

Protein

Protein identifiers

Transcription cofactor vestigial-like protein 2 — Q8N8G2 (reviewed: Q8N8G2)

Alternative names: Protein VITO1

All UniProt accessions (1): Q8N8G2

UniProt curated annotations — full annotation on UniProt →

Function. May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles.

Subunit / interactions. Interacts with TEFs. Binds to TEAD1/TEF1.

Subcellular location. Nucleus.

Tissue specificity. Skeletal muscle.

Similarity. Belongs to the vestigial family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N8G2-1	1	yes
Q8N8G2-2	2

RefSeq proteins (2): NP_703154, NP_872586* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011520	Vg_fam	Family

Pfam: PF07545

UniProt features (11 total): compositionally biased region 5, region of interest 4, chain 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N8G2-F1	55.14	0.13

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 48 (showing top): GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, AGTCTTA_MIR499, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, YRTCANNRCGC_UNKNOWN, chr6q22, GOMF_TRANSCRIPTION_COACTIVATOR_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MEISSNER_BRAIN_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, YANG_BCL3_TARGETS_UP, GOMF_TRANSCRIPTION_COREGULATOR_ACTIVITY

GO Biological Process (4): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

14 GO namespaces:

Category	Terms
regulation of DNA-templated transcription	2
DNA-templated transcription	2
gene expression	1
RNA biosynthetic process	1
transcription by RNA polymerase II	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 294 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VGLL2	TEAD1	P28347	894
VGLL2	WWTR1	Q9GZV5	757
VGLL2	MYOD1	P15172	698
VGLL2	YAP1	P46937	673
VGLL2	NCOA2	Q15596	655
VGLL2	MYOG	P15173	637
VGLL2	TFCP2	Q12800	570
VGLL2	TEAD4	Q15561	534
VGLL2	MYH1	P12882	523
VGLL2	MEF2A	Q02078	506
VGLL2	PAX3	P23760	492
VGLL2	ACTA1	P02568	490
VGLL2	CITED2	Q99967	459
VGLL2	VGLL4	Q14135	442
VGLL2	TCN2	P20062	386

IntAct

Human interaction partners of VGLL2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
TEAD3	physical association	0.560	3

BioGRID (2 interactions; top human partners by supporting records): RNF4 (Affinity Capture-MS), TEAD3 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for VGLL2: 66 ClinVar records (0 pathogenic / likely pathogenic); 20 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	1
Benign	3

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 348):

Position(s)	Effect	Δscore	Sites
6:117265845–117265846	donor_loss	1.0000	4
6:117268492–117268493	donor_loss	1.0000	5
6:117268175	acceptor_gain	0.9900
6:117268180–117268181	acceptor_loss	0.9900	6
6:117265845	donor_loss	0.9800
6:117270521	acceptor_gain	0.9700
6:117268179	acceptor_loss	0.9600
6:117270518	acceptor_gain	0.9600
6:117270529	acceptor_gain	0.9600
6:117270541–117270542	acceptor_loss	0.9500	5

AlphaMissense

568 missense substitutions predicted likely pathogenic (of 2,064 scored), across 152 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M7	9	0.888	0.984
H102	8	0.997	0.999
F103	8	0.996	1.000
D100	8	0.991	0.999
F88	8	0.961	0.999
F145	8	0.955	0.991
F91	8	0.949	0.999
D94	8	0.909	0.985
F141	8	0.904	0.988
D236	8	0.765	0.903
C85	7	0.996	0.999
C3	7	0.992	0.999
W146	7	0.981	0.996
R105	7	0.945	0.995
S2	7	0.930	0.994
M35	7	0.872	0.970
E79	7	0.870	0.963
G93	6	0.996	0.999
V99	6	0.991	0.998
Y80	6	0.952	0.999

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Glioblastoma Multiforme, Lung Adenocarcinoma)

Disease associations

OMIM: gene MIM:609979 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
isolated congenital syngnathia	Strong	Autosomal recessive

Mondo (1): isolated congenital syngnathia (MONDO:0015409)

GWAS associations

20 associations:

Study	Trait	p-value
GCST006014_12	Creatine kinase levels	6e-15
GCST90011899_196	Aspartate aminotransferase levels	4e-14
GCST010796_4064	Electrocardiogram morphology (amplitude at temporal datapoints)	5e-14
GCST90020028_193	Hip circumference adjusted for BMI	1e-13
GCST000817_46	Height	1e-11
GCST008839_148	Height	8e-11
GCST010796_4118	Electrocardiogram morphology (amplitude at temporal datapoints)	4e-10
GCST010989_61	Body size at age 10	5e-10
GCST012226_701	Waist circumference adjusted for body mass index	6e-10
GCST010796_4063	Electrocardiogram morphology (amplitude at temporal datapoints)	1e-9
GCST90020028_194	Hip circumference adjusted for BMI	2e-9
GCST007094_65	Diastolic blood pressure	4e-9
GCST010796_4116	Electrocardiogram morphology (amplitude at temporal datapoints)	1e-8
GCST005989_17	Serum total protein levels	2e-8
GCST010796_4062	Electrocardiogram morphology (amplitude at temporal datapoints)	2e-8
GCST010796_4117	Electrocardiogram morphology (amplitude at temporal datapoints)	2e-8
GCST004731_1	Facial emotion recognition (fearful faces)	1e-6
GCST008155_73	Waist-hip ratio	1e-6
GCST003542_178	Night sleep phenotypes	2e-6
GCST004748_74	Lung cancer	5e-6

EFO canonical traits (from GWAS)

9 canonical traits:

EFO ID	Trait name
EFO:0008329	facial emotion recognition measurement
EFO:0004534	creatine kinase measurement
EFO:0006336	diastolic blood pressure
EFO:0004343	waist-hip ratio
EFO:0004327	electrocardiography
EFO:0009819	comparative body size at age 10, self-reported
EFO:0007789	BMI-adjusted waist circumference
EFO:0004736	aspartate aminotransferase measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	decreases expression	2
bisphenol A	affects cotreatment, decreases methylation	1
terbufos	increases methylation	1
arsenite	increases methylation	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
pentanal	increases expression	1
abrine	increases expression	1
incobotulinumtoxinA	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Diethylhexyl Phthalate	increases expression	1
Fonofos	increases methylation	1
Lipopolysaccharides	affects response to substance, affects cotreatment, increases expression	1
Parathion	increases methylation	1
Smoke	increases expression	1
Dronabinol	decreases expression	1
Triclosan	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.