LMOD1

Summary

LMOD1 (leiomodin 1, HGNC:6647) is a protein-coding gene on chromosome 1q32.1, encoding Leiomodin-1 (P29536). Required for proper contractility of visceral smooth muscle cells.

The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves’ disease and thyroid-associated ophthalmopathy.

Source: NCBI Gene 25802 — RefSeq curated summary.

At a glance

• Gene–disease (curated): megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 20
• Clinical variants (ClinVar): 90 total — 4 pathogenic
• Phenotypes (HPO): 23
• MANE Select transcript: NM_012134

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6647
Approved symbol	LMOD1
Name	leiomodin 1
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	64kD, D1, 1D, SM-LMOD, SMLMOD
Ensembl gene	ENSG00000163431
Ensembl biotype	protein_coding
OMIM	602715
Entrez	25802

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000367288, ENST00000869075

RefSeq mRNA: 1 — MANE Select: NM_012134 NM_012134

CCDS: CCDS53457

Canonical transcript exons

ENST00000367288 — 3 exons

Exon	Start	End
ENSE00001545613	201899237	201900751
ENSE00001838053	201946080	201946548
ENSE00003721067	201896456	201898398

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 99.58.

FANTOM5 (CAGE): breadth broad, TPM avg 18.1633 / max 1357.6643, expressed in 875 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16694	17.8977	873
16693	0.2656	96

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	99.58	gold quality
popliteal artery	UBERON:0002250	99.58	gold quality
tibial artery	UBERON:0007610	99.58	gold quality
aorta	UBERON:0000947	99.50	gold quality
mucosa of stomach	UBERON:0001199	99.50	gold quality
descending thoracic aorta	UBERON:0002345	99.50	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.48	gold quality
lower esophagus	UBERON:0013473	99.46	gold quality
thoracic aorta	UBERON:0001515	99.40	gold quality
ascending aorta	UBERON:0001496	99.38	gold quality
saphenous vein	UBERON:0007318	99.29	gold quality
blood vessel layer	UBERON:0004797	99.28	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.25	gold quality
left coronary artery	UBERON:0001626	99.23	gold quality
coronary artery	UBERON:0001621	99.21	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.05	gold quality
body of uterus	UBERON:0009853	98.83	gold quality
left uterine tube	UBERON:0001303	98.61	gold quality
myometrium	UBERON:0001296	98.60	gold quality
urethra	UBERON:0000057	98.32	gold quality
endocervix	UBERON:0000458	98.00	gold quality
gall bladder	UBERON:0002110	97.55	gold quality
fundus of stomach	UBERON:0001160	97.51	gold quality
cauda epididymis	UBERON:0004360	97.49	gold quality
vena cava	UBERON:0004087	97.14	gold quality
seminal vesicle	UBERON:0000998	96.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.74	gold quality
nipple	UBERON:0002030	96.41	gold quality
prostate gland	UBERON:0002367	96.24	gold quality
colonic epithelium	UBERON:0000397	96.12	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	63.86
E-GEOD-135922	yes	33.76
E-HCAD-1	yes	31.66
E-MTAB-8410	yes	28.14
E-MTAB-6678	yes	27.33
E-ANND-3	yes	15.16
E-GEOD-134144	yes	10.90
E-HCAD-11	yes	9.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

93 targeting LMOD1, 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-656-3P	100.00	72.15	2788
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6715B-5P	99.64	69.63	1420

Literature-anchored findings (GeneRIF, showing 11)

• Lmod1, formerly the 64kD human autoantigen D1, is expressed in smooth muscle and striated extraocular slow muscle fibers, colocalized with myosin in the contractile apparatus. Protein levels are unaltered by hyperthyroidism. (PMID:10520227)
• Lmod1 is a member of the Tropomodulin family of actin binding proteins, and is most highly expressed in smooth muscle. (PMID:11318603)
• Lmod1 is a component of the smooth muscle contractile apparatus extractable by high salt, not a transmembrane protein as previously predicted. (PMID:11350761)
• Lmod1 is a new SMC-restricted SRF/MYOCD target gene. (PMID:22157009)
• Key role for miR-214 in modulation of MEF2C-MYOCD-LMOD1 signaling. (PMID:27144530)
• LMOD1, SYNPO2, PDLIM7, PLN, and SYNM down-regulation reflect the altered phenotype of smooth muscle cells in vascular disease and could be early sensitive markers of SMC dedifferentiation. (PMID:27470516)
• Loss of LMOD1 results in a reduction of filamentous actin, elongated cytoskeletal dense bodies, and impaired intestinal smooth muscle contractility. (PMID:28292896)
• rs34091558 is the top regulatory variant for LMOD1 in vascular tissues. This genetic variation is associated with dysregulated LMOD1 expression/function in smooth muscle cells, contributing to the heritable risk for coronary artery disease. (PMID:30444878)
• Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation. (PMID:35170814)
• LMOD1, an oncogene associated with Lauren classification, regulates the metastasis of gastric cancer cells through the FAK-AKT/mTOR pathway. (PMID:35488236)
• Spatiotemporal heterogeneity of LMOD1 expression summarizes two modes of cell communication in colorectal cancer. (PMID:38849852)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	lmod1a	ENSDARG00000056111
danio_rerio	lmod1b	ENSDARG00000077261
mus_musculus	Lmod1	ENSMUSG00000048096
rattus_norvegicus	Lmod1	ENSRNOG00000051548
drosophila_melanogaster	tmod	FBGN0082582
caenorhabditis_elegans	unc-94	WBGENE00006823

Paralogs (6): TMOD2 (ENSG00000128872), TMOD1 (ENSG00000136842), TMOD3 (ENSG00000138594), TMOD4 (ENSG00000163157), LMOD3 (ENSG00000163380), LMOD2 (ENSG00000170807)

Protein

Protein identifiers

Leiomodin-1 — P29536 (reviewed: P29536)

Alternative names: 64 kDa autoantigen 1D, 64 kDa autoantigen 1D3, 64 kDa autoantigen D1, Leiomodin, muscle form, Smooth muscle leiomodin, Thyroid-associated ophthalmopathy autoantigen

All UniProt accessions (1): P29536

UniProt curated annotations — full annotation on UniProt →

Function. Required for proper contractility of visceral smooth muscle cells. Mediates nucleation of actin filaments.

Subcellular location. Cytoplasm. Myofibril. Sarcomere. Cytoskeleton.

Tissue specificity. Detected in lung vascular smooth muscle (at protein level). Detected in thyroid and extraocular smooth muscle, but not skeletal muscle. Detected in heart, aorta, skeletal muscle, colon, urinary bladder, uterus, stomach, and small intestine.

Disease relevance. Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (MMIHS3) [MIM:619362] A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS3 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the tropomodulin family.

Isoforms (2)

UniProt ID	Names	Canonical?
P29536-1	1	yes
P29536-2	2

RefSeq proteins (1): NP_036266* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003124	WH2_dom	Domain
IPR004934	TMOD	Family
IPR032675	LRR_dom_sf	Homologous_superfamily

Pfam: PF02205, PF03250

UniProt features (45 total): repeat 8, compositionally biased region 7, helix 7, region of interest 5, strand 5, modified residue 4, sequence conflict 4, sequence variant 2, chain 1, splice variant 1, domain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
4Z79	X-RAY DIFFRACTION	1.54
4Z8G	X-RAY DIFFRACTION	2.1
4Z94	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P29536-F1	63.79	0.30

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 (4): 12, 85, 135, 555

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-445355	Smooth Muscle Contraction
R-HSA-397014	Muscle contraction

MSigDB gene sets: 244 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, SMID_BREAST_CANCER_RELAPSE_IN_LUNG_DN, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE

GO Biological Process (6): muscle contraction (GO:0006936), actin filament organization (GO:0007015), myofibril assembly (GO:0030239), positive regulation of actin filament polymerization (GO:0030838), actin nucleation (GO:0045010), pointed-end actin filament capping (GO:0051694)

GO Molecular Function (2): actin binding (GO:0003779), tropomyosin binding (GO:0005523)

GO Cellular Component (8): cytosol (GO:0005829), cytoskeleton (GO:0005856), striated muscle thin filament (GO:0005865), actin filament (GO:0005884), membrane (GO:0016020), myofibril (GO:0030016), sarcomere (GO:0030017), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
supramolecular fiber organization	2
cytoskeletal protein binding	2
actin cytoskeleton	2
muscle system process	1
actin cytoskeleton organization	1
cellular component assembly involved in morphogenesis	1
actomyosin structure organization	1
striated muscle cell development	1
membraneless organelle assembly	1
actin filament polymerization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
actin filament organization	1
actin filament capping	1
cytoplasm	1
intracellular membraneless organelle	1
sarcomere	1
myofilament	1
polymeric cytoskeletal fiber	1
contractile muscle fiber	1
myofibril	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

954 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LMOD1	CSTF2	P33240	891
LMOD1	DGKE	P52429	764
LMOD1	CSTF2T	Q9H0L4	760
LMOD1	TAGLN	Q01995	629
LMOD1	ACTG2	P12718	628
LMOD1	MYL9	P24844	619
LMOD1	CNN1	P51911	603
LMOD1	MYH11	P35749	585
LMOD1	MYLK	Q15746	557
LMOD1	TPM1	P09493	554
LMOD1	COBL	O75128	531
LMOD1	PRCP	P42785	513
LMOD1	MYOCD	Q8IZQ8	502
LMOD1	RNASET2	O00584	498
LMOD1	CSTF3	Q12996	496

IntAct

5 interactions, top by confidence:

A	B	Type	Score
LMOD1	THRAP3	psi-mi:“MI:0915”(physical association)	0.400
LMOD1	NPM1	psi-mi:“MI:0915”(physical association)	0.400
BFRF1A	SHTN1	psi-mi:“MI:0914”(association)	0.350
CALD1		psi-mi:“MI:0914”(association)	0.350

BioGRID (9): LMOD1 (Affinity Capture-MS), LMOD1 (Proximity Label-MS), THRAP3 (Proximity Label-MS), LMOD1 (Proximity Label-MS), LMOD1 (Affinity Capture-MS), LMOD1 (Affinity Capture-MS), LMOD1 (Cross-Linking-MS (XL-MS)), LMOD1 (Cross-Linking-MS (XL-MS)), LMOD1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A088MLT8, A0A0G2K0D3, A2AQ19, B3KU38, D3ZTQ1, E1BTG2, E6ZGB4, E9PSK7, O35274, O60271, O75151, O75376, P12755, P22682, P29536, P49140, Q08DA0, Q13191, Q3B7T9, Q3TTA7, Q3UHZ5, Q3USH5, Q3YEC7, Q4KKX4, Q58A65, Q5SFM8, Q5U3K5, Q60698, Q60974, Q62415, Q640N2, Q6P5Q4, Q6R891, Q70E73, Q80XA6, Q86YP4, Q8BVA4, Q8CHY6, Q8K4S7, Q8R3Y5

Diamond homologs: A0A0G2K0D3, A0JNC0, A1A5Q0, E1BTG2, E7F7X0, E9QA62, O01479, P28289, P29536, P49813, P70566, P70567, Q0VAK6, Q0VC48, Q3UHZ5, Q6P5Q4, Q8BVA4, Q9JHJ0, Q9JKK7, Q9JLH8, Q9NYL9, Q9NZQ9, Q9NZR1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	66
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1172756	NM_012134.3(LMOD1):c.1106C>T (p.Thr369Met)	Pathogenic
1172757	NM_012134.3(LMOD1):c.1262G>A (p.Arg421His)	Pathogenic
144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	Pathogenic
264986	NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter)	Pathogenic

SpliceAI

697 predictions. Top by Δscore:

Variant	Effect	Δscore
1:201946074:A:AC	donor_gain	1.0000
1:201946075:C:CC	donor_gain	1.0000
1:201946075:CTCA:C	donor_gain	1.0000
1:201946078:A:AC	donor_gain	1.0000
1:201946078:ACAT:A	donor_gain	1.0000
1:201946079:C:CC	donor_gain	1.0000
1:201946079:CAT:C	donor_gain	1.0000
1:201946079:CATC:C	donor_gain	1.0000
1:201899235:AACTT:A	donor_gain	0.9900
1:201899236:A:C	donor_gain	0.9900
1:201946073:CACT:C	donor_loss	0.9900
1:201946075:CT:C	donor_gain	0.9900
1:201946076:TCACA:T	donor_loss	0.9900
1:201946077:CACAT:C	donor_loss	0.9900
1:201946078:ACATC:A	donor_gain	0.9900
1:201946079:CATCC:C	donor_gain	0.9900
1:201946081:T:TA	donor_gain	0.9900
1:201946094:C:CA	donor_gain	0.9900
1:201946072:TCAC:T	donor_loss	0.9800
1:201946074:ACTC:A	donor_loss	0.9800
1:201899235:A:AC	donor_gain	0.9700
1:201922459:A:C	donor_gain	0.9700
1:201946079:CA:C	donor_gain	0.9700
1:201898397:ACCT:A	acceptor_loss	0.9600
1:201898398:CCTGT:C	acceptor_loss	0.9600
1:201898399:C:CA	acceptor_loss	0.9600
1:201898400:T:G	acceptor_loss	0.9600
1:201899239:T:TA	donor_gain	0.9600
1:201899232:CTTAA:C	donor_gain	0.9500
1:201899229:C:CT	donor_gain	0.9400

AlphaMissense

3979 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:201899754:A:G	L420P	1.000
1:201899806:C:G	G403R	1.000
1:201899822:G:C	N397K	1.000
1:201899822:G:T	N397K	1.000
1:201899268:A:T	I582N	0.999
1:201899588:T:A	R475S	0.999
1:201899588:T:G	R475S	0.999
1:201899589:C:G	R475T	0.999
1:201899607:C:G	R469P	0.999
1:201899609:G:C	S468R	0.999
1:201899609:G:T	S468R	0.999
1:201899611:T:G	S468R	0.999
1:201899613:A:G	L467P	0.999
1:201899616:A:G	L466P	0.999
1:201899637:G:C	P459R	0.999
1:201899637:G:T	P459H	0.999
1:201899646:A:G	L456P	0.999
1:201899651:A:C	F454L	0.999
1:201899651:A:T	F454L	0.999
1:201899652:A:G	F454S	0.999
1:201899653:A:G	F454L	0.999
1:201899662:C:G	G451R	0.999
1:201899691:A:G	L441P	0.999
1:201899741:G:C	N424K	0.999
1:201899741:G:T	N424K	0.999
1:201899748:A:G	F422S	0.999
1:201899751:C:G	R421P	0.999
1:201899805:C:T	G403D	0.999
1:201899827:A:G	S396P	0.999
1:201899832:A:G	L394P	0.999

dbSNP variants (sampled 300 via entrez): RS1000071324 (1:201913362 T>C), RS1000129425 (1:201919991 G>A), RS1000146966 (1:201933691 G>C), RS1000184121 (1:201930511 A>C,G), RS1000245830 (1:201919657 G>T), RS1000328362 (1:201938846 A>G), RS1000414419 (1:201931861 A>C), RS1000470600 (1:201925780 C>G), RS1000500476 (1:201943309 A>G), RS1000508912 (1:201904101 G>A), RS1000601015 (1:201908939 A>G), RS1000700996 (1:201902243 A>G), RS1000761234 (1:201926082 T>C), RS1000859507 (1:201930355 T>C), RS1000891595 (1:201930706 G>T)

Disease associations

OMIM: gene MIM:602715 | disease phenotypes: MIM:619362, MIM:155310

GenCC curated gene-disease

Disease	Classification	Inheritance
megacystis-microcolon-intestinal hypoperistalsis syndrome 3	Moderate	Autosomal recessive
megacystis-microcolon-intestinal hypoperistalsis syndrome	Supportive	Autosomal dominant

Mondo (3): megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (MONDO:0030294), visceral myopathy 1 (MONDO:0020754), (MONDO:0007960)

Orphanet (1): Familial visceral myopathy (Orphanet:2604)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000021	Megacystis
HP:0000028	Cryptorchidism
HP:0000072	Hydroureter
HP:0000126	Hydronephrosis
HP:0001522	Death in infancy
HP:0001537	Umbilical hernia
HP:0001539	Omphalocele
HP:0001561	Polyhydramnios
HP:0001627	Abnormal heart morphology
HP:0002017	Nausea and vomiting
HP:0002566	Intestinal malrotation
HP:0003270	Abdominal distention
HP:0003811	Neonatal death
HP:0004388	Microcolon
HP:0010956	Fetal megacystis
HP:0011024	Abnormality of the gastrointestinal tract
HP:0030680	Abnormal cardiovascular system morphology
HP:0034198	Second trimester onset
HP:0100544	Neoplasm of the heart
HP:0100771	Hypoperistalsis
HP:0100806	Sepsis

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST003985_14	Breast size	3.000000e-08
GCST004557_153	Body mass index	5.000000e-09
GCST004557_258	Body mass index	1.000000e-06
GCST004557_36	Body mass index	1.000000e-08
GCST004557_80	Body mass index	5.000000e-06
GCST004558_220	Body mass index (joint analysis main effects and physical activity interaction)	1.000000e-08
GCST004558_53	Body mass index (joint analysis main effects and physical activity interaction)	6.000000e-06
GCST004558_72	Body mass index (joint analysis main effects and physical activity interaction)	4.000000e-09
GCST004559_150	Body mass index in physically active individuals	4.000000e-08
GCST004559_69	Body mass index in physically active individuals	7.000000e-09
GCST004904_110	Body mass index	3.000000e-12
GCST005195_24	Coronary artery disease	1.000000e-10
GCST005196_192	Coronary artery disease	3.000000e-11
GCST007431_29	Lung function (FEV1/FVC)	2.000000e-10
GCST007559_12	Sleep duration (short sleep)	2.000000e-09
GCST008129_37	Body mass index	5.000000e-36
GCST008848_1	Depressive symptoms (sum-score)	6.000000e-11
GCST008849_1	Depressive symptoms (binary sum-score)	9.000000e-09
GCST010866_1	Coronary artery disease	7.000000e-10
GCST90000025_840	Appendicular lean mass	2.000000e-18

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008002	physical activity measurement
EFO:0004713	FEV/FVC ratio
EFO:0007006	depressive symptom measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, affects methylation, decreases expression	3
sodium arsenite	affects methylation, increases expression	2
Estradiol	affects cotreatment, decreases expression, affects expression	2
Nickel	decreases expression	2
aristolochic acid I	increases expression	1
2,4,6-tribromophenol	decreases expression	1
daidzein	affects cotreatment, affects expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	increases expression	1
daidzin	affects cotreatment, affects expression	1
methylparaben	increases expression	1
trimellitic anhydride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
butylparaben	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment	1
genistin	affects cotreatment, affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
glycitein	affects cotreatment, affects expression	1
azoxystrobin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
monomethylarsonous acid	increases expression	1
glycitin	affects cotreatment, affects expression	1
pyrimidifen	decreases expression	1
thifluzamide	decreases expression	1
pyrachlostrobin	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
picoxystrobin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B7VQ	Abcam SH-SY5Y LMOD1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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