ITIH1

Summary

ITIH1 (inter-alpha-trypsin inhibitor heavy chain 1, HGNC:6166) is a protein-coding gene on chromosome 3p21.1, encoding Inter-alpha-trypsin inhibitor heavy chain H1 (P19827). May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological p….

This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3.

Source: NCBI Gene 3697 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 168 total
• MANE Select transcript: NM_002215

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6166
Approved symbol	ITIH1
Name	inter-alpha-trypsin inhibitor heavy chain 1
Location	3p21.1
Locus type	gene with protein product
Status	Approved
Aliases	H1P, IATIH, ITIH
Ensembl gene	ENSG00000055957
Ensembl biotype	protein_coding
OMIM	147270
Entrez	3697

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000273283, ENST00000405128, ENST00000428133, ENST00000478667, ENST00000480409, ENST00000482836, ENST00000484844, ENST00000487686, ENST00000494603, ENST00000494705, ENST00000537050, ENST00000628722, ENST00000943714, ENST00000943715, ENST00000943716, ENST00000943717, ENST00000943718

RefSeq mRNA: 4 — MANE Select: NM_002215 NM_001166434, NM_001166435, NM_001166436, NM_002215

CCDS: CCDS2864, CCDS54595

Canonical transcript exons

ENST00000273283 — 22 exons

Exon	Start	End
ENSE00000771382	52786945	52787099
ENSE00000771386	52787592	52787612
ENSE00000771389	52787986	52788066
ENSE00000860979	52777997	52778017
ENSE00000860980	52784296	52784477
ENSE00000967010	52777599	52777732
ENSE00000967011	52786295	52786434
ENSE00000967013	52778340	52778506
ENSE00001128016	52785044	52785229
ENSE00001128029	52783214	52783339
ENSE00001128034	52782957	52783125
ENSE00001930926	52791782	52792062
ENSE00002420914	52787188	52787202
ENSE00003500062	52782151	52782267
ENSE00003545708	52778942	52779046
ENSE00003549090	52779432	52779594
ENSE00003552439	52781940	52782065
ENSE00003559089	52789653	52789854
ENSE00003574490	52791517	52791628
ENSE00003592850	52780269	52780382
ENSE00003614161	52788232	52788345
ENSE00003646332	52790749	52790921

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 99.81.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 7.6646 / max 2009.5601, expressed in 93 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36893	4.8177	19
36904	1.2586	42
36905	1.1123	54
36903	0.1220	28
36902	0.1128	23
36896	0.0694	14
36895	0.0607	11
36897	0.0349	10
36894	0.0287	8
36898	0.0222	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.81	gold quality
liver	UBERON:0002107	99.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.66	gold quality
diaphragm	UBERON:0001103	80.47	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.00	gold quality
endometrium epithelium	UBERON:0004811	73.45	gold quality
tibial artery	UBERON:0007610	72.61	gold quality
popliteal artery	UBERON:0002250	72.57	gold quality
right coronary artery	UBERON:0001625	71.93	gold quality
spleen	UBERON:0002106	70.05	gold quality
type B pancreatic cell	CL:0000169	69.00	gold quality
choroid plexus epithelium	UBERON:0003911	68.17	gold quality
monocyte	CL:0000576	68.13	gold quality
mononuclear cell	CL:0000842	68.11	gold quality
leukocyte	CL:0000738	67.90	gold quality
triceps brachii	UBERON:0001509	67.71	gold quality
gluteal muscle	UBERON:0002000	67.58	gold quality
cerebellar vermis	UBERON:0004720	67.54	gold quality
tongue squamous epithelium	UBERON:0006919	67.29	gold quality
frontal pole	UBERON:0002795	67.25	gold quality
coronary artery	UBERON:0001621	66.28	gold quality
endothelial cell	CL:0000115	66.13	gold quality
left coronary artery	UBERON:0001626	66.08	gold quality
thymus	UBERON:0002370	65.93	gold quality
middle frontal gyrus	UBERON:0002702	65.77	gold quality
paraflocculus	UBERON:0005351	65.69	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	65.31	gold quality
vena cava	UBERON:0004087	65.22	gold quality
olfactory bulb	UBERON:0002264	65.21	gold quality
adrenal tissue	UBERON:0018303	64.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-98	yes	1463.65
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting ITIH1, 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-3619-5P	99.00	68.87	2308
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-4723-3P	97.67	65.91	1017
HSA-MIR-6769B-3P	97.41	65.53	1036
HSA-MIR-514A-3P	96.43	67.77	1048
HSA-MIR-514B-3P	96.43	67.77	1048

Literature-anchored findings (GeneRIF, showing 11)

• Transfection into H460M Human large cell lung carcinoma line decreased tumor metastasis in nude mice (PMID:11807786)
• PTX3 directly interacts with inter-alpha-trypsin inhibitor and has a role in hyaluronan organization and cumulus oophorus expansion (PMID:17675295)
• The first systematic analysis on the differential expression of ITIH genes in human cancer, showing frequent downregulation that may be associated with initiation and/or progression of these malignancies. (PMID:18226209)
• Human inter-alpha-inhibitor is a substrate for factor XIIIa and tissue transglutaminase. (PMID:21939789)
• Data indicate that TSG-6-mediated cross-linking of hyaluronan (HA) films is impaired in the presence of inter-alpha-inhibitor (IalphaI) and that this effect suppresses the TSG-6-mediated enhancement of HA binding to CD44-positive cells. (PMID:24005673)
• The results of this study revealed that the shared genetic risk factors of both schizophrenia and major depressive disorder exist in ITIH family genes in the Han Chinese population. (PMID:24389398)
• Data suggest that Mg2+ or Mn2+ (but not Ca2+) induce a conformational change in inter-alpha-inhibitor (ITIH1 and ITIH2) and a bikunin/chondroitin sulfate-dependent increase in thermodynamic stability; bikunin binds adjacent to the two heavy chains. (PMID:26728454)
• Furthermore, thrombin treatment of the inflammatory matrix leads to dissolution of HC-HA cable structures and abolishes leukocyte adhesion. These data establish a novel mechanism whereby thrombin cleavage of HC1 regulates the adhesive properties of an inflammatory HA matrix. (PMID:27679489)
• Both IalphaI and the HC-hyaluronan complex are substrates for the extracellular matrix proteases ADAMTS-5 and matrix metalloprotease (MMP) -3, -7, and -13. (PMID:31484722)
• Pan-cancer analysis identifies ITIH1 as a novel prognostic indicator for hepatocellular carcinoma. (PMID:33744857)
• Lysine demethylase 5C epigenetically reduces transcription of ITIH1 that results in augmented progression of liver hepatocellular carcinoma. (PMID:35080113)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Itih1	ENSMUSG00000006529
rattus_norvegicus	Itih1	ENSRNOG00000033386

Paralogs (11): ITIH4 (ENSG00000055955), ITIH6 (ENSG00000102313), PARP4 (ENSG00000102699), VWA5A (ENSG00000110002), ITIH5 (ENSG00000123243), VWA5B2 (ENSG00000145198), ITIH2 (ENSG00000151655), VWA5B1 (ENSG00000158816), ITIH3 (ENSG00000162267), VWA3B (ENSG00000168658), VWA3A (ENSG00000175267)

Protein

Protein identifiers

Inter-alpha-trypsin inhibitor heavy chain H1 — P19827 (reviewed: P19827)

Alternative names: Inter-alpha-trypsin inhibitor complex component III, Serum-derived hyaluronan-associated protein

All UniProt accessions (5): B5MCP1, F8WAS2, H7C0N0, H7C5I0, P19827

UniProt curated annotations — full annotation on UniProt →

Function. May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes. Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells.

Subunit / interactions. I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (HC) and one light chain, bikunin. Inter-alpha-inhibitor (I-alpha-I) is composed of ITIH1/HC1, ITIH2/HC2 and bikunin. Interacts with TNFAIP6 (via Link and CUB domains).

Subcellular location. Secreted.

Post-translational modifications. Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage. The S-linked glycan is composed of two 6-carbon sugars, possibly Glc or Gal.

Polymorphism. There are 3 common alleles; ITIH11 with Glu-585/Gln-595, ITIH12 with Val-585/Arg-595 and ITIH1*3 with Glu-585/Arg-595.

Similarity. Belongs to the ITIH family.

Isoforms (3)

UniProt ID	Names	Canonical?
P19827-1	1	yes
P19827-2	2
P19827-3	3

RefSeq proteins (4): NP_001159906, NP_001159907, NP_001159908, NP_002206* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR010600	ITI_HC_C	Domain
IPR013694	VIT	Domain
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR050934	ITIH	Family

Pfam: PF00092, PF06668, PF08487

UniProt features (84 total): strand 34, helix 16, glycosylation site 5, sequence variant 5, sequence conflict 5, modified residue 4, propeptide 2, disulfide bond 2, splice variant 2, domain 2, turn 2, signal peptide 1, chain 1, mutagenesis site 1, region of interest 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6FPZ	X-RAY DIFFRACTION	2.2
6FPY	X-RAY DIFFRACTION	2.34

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19827-F1	87.82	0.68

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): 407, 672, 129, 402

Disulfide bonds (2): 244–247, 268–540

Glycosylation sites (5): 60, 285, 588, 653, 750

Mutagenesis-validated functional residues (1):

Position	Phenotype
298	abolishes binding to cub domain of tnfaip6.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 111 (showing top): GNF2_GSTM1, GNF2_HPN, MORF_RAD51L3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_HYALURONAN_METABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_3, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, GNF2_LCAT, HSIAO_LIVER_SPECIFIC_GENES, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, GCM_DDX11, SCHLOSSER_SERUM_RESPONSE_DN, GNF2_HPX, GOMF_GLYCOSAMINOGLYCAN_BINDING, MODULE_88

GO Biological Process (1): hyaluronan metabolic process (GO:0030212)

GO Molecular Function (6): serine-type endopeptidase inhibitor activity (GO:0004867), calcium ion binding (GO:0005509), hyaluronic acid binding (GO:0005540), carbohydrate binding (GO:0030246), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)

GO Cellular Component (4): extracellular region (GO:0005576), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
glycosaminoglycan metabolic process	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
metal ion binding	1
carboxylic acid binding	1
enzyme inhibitor activity	1
peptidase activity	1
peptidase regulator activity	1
external encapsulating structure	1
extracellular vesicle	1
extracellular region	1

Protein interactions and networks

STRING

1504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITIH1	AMBP	P00977	924
ITIH1	ITIH2	P19823	763
ITIH1	SERPINF2	P08697	617
ITIH1	ITIH3	Q06033	593
ITIH1	AHSG	P02765	574
ITIH1	KLKB1	P03952	568
ITIH1	C8A	P07357	559
ITIH1	APOC1	P02654	544
ITIH1	APOC2	P02655	529
ITIH1	ALB	P02768	527
ITIH1	CLU	P10909	522
ITIH1	HNRNPC	P07910	521
ITIH1	CD44	P16070	517
ITIH1	NEK4	P51957	481
ITIH1	F13A1	P00488	475

IntAct

18 interactions, top by confidence:

A	B	Type	Score
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
TOMM40	NOS1AP	psi-mi:“MI:0914”(association)	0.350
ALB	SH3BP5	psi-mi:“MI:0914”(association)	0.350
GNG8	POTEF	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
SFXN4	TMEM131L	psi-mi:“MI:0914”(association)	0.350
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PHF11	A2ML1	psi-mi:“MI:0914”(association)	0.350
RHBDD1	A2ML1	psi-mi:“MI:0914”(association)	0.350
MATN2	IGLL5	psi-mi:“MI:0914”(association)	0.350
UBE2U	IGLL5	psi-mi:“MI:0914”(association)	0.350
KLK10	IGLL5	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
INSR	UBXN8	psi-mi:“MI:0914”(association)	0.350
INSR	ATOX1	psi-mi:“MI:0914”(association)	0.350
ITIH1	PIK3CA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): ITIH1 (Two-hybrid), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Reconstituted Complex), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Affinity Capture-MS), ITIH1 (Positive Genetic)

ESM2 similar proteins: A0A481NSZ4, A0JPN3, A2BGH0, A6QP57, D4A5U3, G3HIK4, O02668, O76879, P11597, P17213, P17453, P17454, P18428, P19823, P19827, P22687, P47896, P55058, P55065, P59826, P59827, P97278, Q05701, Q05704, Q08188, Q08189, Q0VCM5, Q10011, Q24764, Q28739, Q29052, Q2TBI0, Q61114, Q61702, Q61703, Q61805, Q63313, Q67E05, Q6AXU0, Q80ZU7

Diamond homologs: A2VE29, A6X935, O02668, P19823, P19827, P56652, P79263, P97278, P97279, P97280, Q06033, Q0VCM5, Q14624, Q29052, Q3T052, Q5RB37, Q5RER0, Q61702, Q61703, Q61704, Q63416, Q6UXX5, Q86UX2, Q8BJD1, Q9GLY5, P56651, A1A5Q7, Q5RJF7, A6NCI4, Q8CFG5, Q8IZS8, Q9Z1L5, Q3UVV9, A8XP97, P34374, Q9ZQ46

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	149
Likely benign	9
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3679 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52778451:G:GT	donor_gain	1.0000
3:52778451:G:T	donor_gain	1.0000
3:52778494:G:GG	donor_gain	1.0000
3:52778502:GCCGT:G	donor_gain	1.0000
3:52778505:GT:G	donor_gain	1.0000
3:52778940:A:AG	acceptor_gain	1.0000
3:52778941:G:GG	acceptor_gain	1.0000
3:52778941:GTACA:G	acceptor_gain	1.0000
3:52779044:CAGG:C	donor_loss	1.0000
3:52779047:G:GG	donor_gain	1.0000
3:52779047:GTGA:G	donor_loss	1.0000
3:52779048:T:G	donor_loss	1.0000
3:52779417:T:TA	acceptor_gain	1.0000
3:52780259:AAT:A	acceptor_gain	1.0000
3:52780261:T:TA	acceptor_gain	1.0000
3:52780264:T:A	acceptor_gain	1.0000
3:52780265:GCA:G	acceptor_loss	1.0000
3:52780266:CAG:C	acceptor_loss	1.0000
3:52780267:A:AG	acceptor_gain	1.0000
3:52780267:AGATT:A	acceptor_gain	1.0000
3:52780268:G:GT	acceptor_gain	1.0000
3:52780268:GA:G	acceptor_gain	1.0000
3:52780268:GAT:G	acceptor_gain	1.0000
3:52780268:GATT:G	acceptor_gain	1.0000
3:52780268:GATTG:G	acceptor_gain	1.0000
3:52780361:G:GT	donor_gain	1.0000
3:52780375:G:GT	donor_gain	1.0000
3:52780376:A:T	donor_gain	1.0000
3:52780380:AAGGT:A	donor_loss	1.0000
3:52780381:AGG:A	donor_loss	1.0000

AlphaMissense

6026 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52783023:T:C	F333L	0.990
3:52783025:T:A	F333L	0.990
3:52783025:T:G	F333L	0.990
3:52782235:A:C	S300R	0.988
3:52782237:T:A	S300R	0.988
3:52782237:T:G	S300R	0.988
3:52788285:T:A	C687S	0.988
3:52788286:G:C	C687S	0.988
3:52787016:T:C	F602S	0.987
3:52779506:T:C	L162P	0.986
3:52786407:T:C	L569P	0.986
3:52782166:T:C	F277L	0.985
3:52782168:T:A	F277L	0.985
3:52782168:T:G	F277L	0.985
3:52783319:C:T	T402I	0.984
3:52787001:C:G	S597W	0.984
3:52787015:T:C	F602L	0.984
3:52787017:T:A	F602L	0.984
3:52787017:T:G	F602L	0.984
3:52788287:C:G	C687W	0.984
3:52791836:C:G	C887W	0.983
3:52791839:G:C	W888C	0.982
3:52791839:G:T	W888C	0.982
3:52778397:T:C	F66L	0.981
3:52778399:C:A	F66L	0.981
3:52778399:C:G	F66L	0.981
3:52782231:C:A	D298E	0.981
3:52782231:C:G	D298E	0.981
3:52788285:T:C	C687R	0.981
3:52791834:T:A	C887S	0.981

dbSNP variants (sampled 300 via entrez): RS1000343995 (3:52785126 A>G), RS1000480004 (3:52790959 T>G), RS1000490021 (3:52791248 G>A), RS1000569067 (3:52790977 T>C), RS1000602973 (3:52783056 C>T), RS1000857508 (3:52777418 G>A), RS1000958721 (3:52786791 G>T), RS1001521231 (3:52776562 G>A,T), RS1001669497 (3:52782494 G>T), RS1001720501 (3:52782164 A>G), RS1001745560 (3:52785725 G>A), RS1002006304 (3:52791723 T>G), RS1002178243 (3:52776222 G>A), RS1002271157 (3:52787658 A>G), RS1002304900 (3:52780977 T>C)

Disease associations

OMIM: gene MIM:147270 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST000387_7	Bipolar disorder	2.000000e-07
GCST001241_15	Bipolar disorder	2.000000e-06
GCST002149_14	Schizophrenia	1.000000e-08
GCST002254_2	Schizophrenia, schizoaffective disorder or bipolar disorder	3.000000e-08
GCST002539_48	Schizophrenia	4.000000e-11
GCST002582_1	Glaucoma (primary open-angle)	5.000000e-06
GCST002783_337	Body mass index	9.000000e-06
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_201	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST004521_259	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST004562_89	Waist circumference adjusted for body mass index	3.000000e-10
GCST004563_66	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	1.000000e-08
GCST004564_216	Waist circumference adjusted for BMI in active individuals	1.000000e-06
GCST004567_72	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	4.000000e-08
GCST004576_72	Waist-to-hip ratio adjusted for body mass index	4.000000e-09
GCST006269_823	General cognitive ability	1.000000e-08
GCST006803_55	Schizophrenia	1.000000e-11
GCST006926_12	Osteoarthritis (hip)	2.000000e-09
GCST007269_86	Pulse pressure	2.000000e-08
GCST008103_3	Bipolar disorder	7.000000e-11
GCST008595_33	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	9.000000e-10
GCST010698_14	Subcortical volume (min-P)	8.000000e-09
GCST010699_73	Brain morphology (min-P)	1.000000e-18
GCST010701_137	Cortical surface area (MOSTest)	8.000000e-10
GCST010702_70	Subcortical volume (MOSTest)	2.000000e-11
GCST010703_327	Brain morphology (MOSTest)	1.000000e-10
GCST011102_5	Bipolar disorder	6.000000e-11
GCST012465_27	Bipolar disorder	4.000000e-13
GCST90020024_1210	A body shape index	6.000000e-21
GCST90020029_1197	Waist circumference adjusted for body mass index	7.000000e-22

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007789	BMI-adjusted waist circumference
EFO:0008002	physical activity measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004337	intelligence
EFO:0005763	pulse pressure measurement
EFO:0004784	self reported educational attainment
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Aflatoxin B1	affects expression, decreases expression, decreases methylation	3
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	affects expression, increases methylation	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	decreases expression	2
OTX015	decreases expression	1
bisphenol F	affects cotreatment, increases methylation	1
mivebresib	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	increases expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
manganese chloride	affects binding, increases reaction	1
aflatoxin B2	increases methylation	1
benazol P	affects expression	1
CGP 52608	affects binding, increases reaction	1
pentabrominated diphenyl ether 100	increases expression	1
(+)-JQ1 compound	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Acetaminophen	decreases expression	1
Cadmium	affects binding	1
Calcium	affects binding, increases reaction	1
Calcium Chloride	affects binding, increases reaction	1
Carmustine	decreases expression	1
Chondroitin Sulfates	affects binding, increases reaction	1
Copper	affects binding	1

Clinical trials (associated diseases)

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