COLEC10

Summary

COLEC10 (collectin subfamily member 10, HGNC:2220) is a protein-coding gene on chromosome 8q24.12, encoding Collectin-10 (Q9Y6Z7). Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine.

This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins.

Source: NCBI Gene 10584 — RefSeq curated summary.

At a glance

• Gene–disease (curated): 3MC syndrome 3 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 17
• Clinical variants (ClinVar): 63 total — 4 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 48
• MANE Select transcript: NM_006438

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2220
Approved symbol	COLEC10
Name	collectin subfamily member 10
Location	8q24.12
Locus type	gene with protein product
Status	Approved
Aliases	CL-L1, CL-10
Ensembl gene	ENSG00000184374
Ensembl biotype	protein_coding
OMIM	607620
Entrez	10584

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000332843, ENST00000521788, ENST00000892374, ENST00000892375, ENST00000892376, ENST00000892377, ENST00000892378

RefSeq mRNA: 2 — MANE Select: NM_006438 NM_001324095, NM_006438

CCDS: CCDS6327

Canonical transcript exons

ENST00000332843 — 6 exons

Exon	Start	End
ENSE00001304898	119105800	119108455
ENSE00001309494	119067247	119067429
ENSE00001325106	119103800	119103895
ENSE00003497438	119089680	119089751
ENSE00003540400	119102348	119102401
ENSE00003671329	119091149	119091220

Expression profiles

Bgee: expression breadth broad, 91 present calls, max score 85.41.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5356 / max 127.6159, expressed in 85 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
90372	0.2763	48
90371	0.1388	34
90370	0.0687	25
90369	0.0517	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	85.41	gold quality
liver	UBERON:0002107	78.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.63	gold quality
stromal cell of endometrium	CL:0002255	73.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.53	gold quality
right lung	UBERON:0002167	62.51	gold quality
gall bladder	UBERON:0002110	58.46	gold quality
heart left ventricle	UBERON:0002084	58.16	gold quality
cardiac ventricle	UBERON:0002082	57.57	gold quality
adrenal tissue	UBERON:0018303	57.45	gold quality
pancreatic ductal cell	CL:0002079	57.01	silver quality
islet of Langerhans	UBERON:0000006	55.86	gold quality
apex of heart	UBERON:0002098	55.45	gold quality
right coronary artery	UBERON:0001625	53.07	gold quality
placenta	UBERON:0001987	52.44	gold quality
left lobe of thyroid gland	UBERON:0001120	52.37	gold quality
prefrontal cortex	UBERON:0000451	51.88	gold quality
heart	UBERON:0000948	51.82	gold quality
colonic epithelium	UBERON:0000397	51.76	gold quality
metanephros cortex	UBERON:0010533	51.61	gold quality
tibial artery	UBERON:0007610	51.45	gold quality
thyroid gland	UBERON:0002046	51.44	gold quality
lung	UBERON:0002048	51.41	gold quality
popliteal artery	UBERON:0002250	51.38	gold quality
cortical plate	UBERON:0005343	51.10	silver quality
calcaneal tendon	UBERON:0003701	51.06	silver quality
metanephros	UBERON:0000081	51.02	gold quality
ileal mucosa	UBERON:0000331	50.96	silver quality
epithelial cell of pancreas	CL:0000083	50.68	gold quality
upper lobe of left lung	UBERON:0008952	50.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7407	yes	1021.67
E-ANND-3	no	4.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

86 targeting COLEC10, 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-5692A	100.00	74.40	6850
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
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-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-545-5P	99.66	70.18	2308

Literature-anchored findings (GeneRIF, showing 11)

• Most plasma CL-K1 was found in complex with CL-L1 in a ratio suggesting a heteromeric subunit of 1 CL-L1 & 2 CL-K1 polypeptides. (PMID:24174618)
• Carriers of COLEC10 Arg125Trp had increased CL-L1 serum levels. (PMID:25710878)
• Data indicate differences in the plasma concentrations of collectin liver 1 and collectin kidney 1, M-ficolin and H-ficol in systemic lupus erythematosus (SLE) patients compared to a group of healthy controls. (PMID:26154564)
• high serum CL-L1 concentration in critically ill children upon PICU admission is associated with an increased risk of infection and prolonged need of intensive care, and counteracts the protective effect of having a high MASP-3 concentration (PMID:27057739)
• High CLL1 expression is associated with cardiovascular disease. (PMID:27341702)
• Exome sequencing reveals mutations in collectin sub-family member 10 (C-type lectin) protein (COLEC10) as a cause of 3MC syndrome with main features include facial dysmorphism, craniosynostosis and cleft lip/palate. (PMID:28301481)
• Collectin liver 1 (CL-L1, collectin 10) and collectin kidney 1 (CL-K1, collectin 11) were found widespread and almost identical tissue with a high expression in epithelial cells in endo-/exocrine secretory tissues and mucosa. (PMID:30108587)
• Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome. (PMID:32751929)
• A novel COLEC10 mutation in a child with 3MC syndrome. (PMID:34740859)
• COLEC10 Induces Endoplasmic Reticulum Stress by Occupying GRP78 and Inhibits Hepatocellular Carcinoma. (PMID:36925047)
• The C-type lectin COLEC10 is predominantly produced by hepatic stellate cells and involved in the pathogenesis of liver fibrosis. (PMID:38036508)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	COLEC10	ENSDARG00000104752
mus_musculus	Colec10	ENSMUSG00000038591
rattus_norvegicus	Colec10	ENSRNOG00000008591

Paralogs (4): COLEC11 (ENSG00000118004), SFTPA1 (ENSG00000122852), SFTPD (ENSG00000133661), SFTPA2 (ENSG00000185303)

Protein

Protein identifiers

Collectin-10 — Q9Y6Z7 (reviewed: Q9Y6Z7)

Alternative names: Collectin liver protein 1, Collectin-34

All UniProt accessions (1): Q9Y6Z7

UniProt curated annotations — full annotation on UniProt →

Function. Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine. Acts as a chemoattractant, probably involved in the regulation of cell migration.

Subcellular location. Secreted. Golgi apparatus. Cytoplasm.

Tissue specificity. Highly expressed in liver, placenta and adrenal gland. Moderately expressed in small intestine, lung, stomach and prostate. Weakly expressed in trachea and spleen.

Disease relevance. 3MC syndrome 3 (3MC3) [MIM:248340] A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the COLEC10/COLEC11 family.

RefSeq proteins (2): NP_001311024, NP_006429* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001304	C-type_lectin-like	Domain
IPR008160	Collagen	Repeat
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR018378	C-type_lectin_CS	Conserved_site
IPR033990	Collectin_CTLD	Domain
IPR051663	CLec_Tetranectin-domain	Family

Pfam: PF00059, PF01391

UniProt features (13 total): sequence variant 2, sequence conflict 2, domain 2, disulfide bond 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6Z7-F1	81.20	0.47

Functional residue map

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

Disulfide bonds (2): 176–270, 248–262

Glycosylation sites (1): 258

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-166662	Lectin pathway of complement activation
R-HSA-166663	Initial triggering of complement

MSigDB gene sets: 258 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOCC_COLLAGEN_TRIMER, REACTOME_CREATION_OF_C4_AND_C2_ACTIVATORS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, FOXO4_01, LHX3_01, AAAYRNCTG_UNKNOWN, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS

GO Biological Process (6): complement activation, lectin pathway (GO:0001867), cell surface pattern recognition receptor signaling pathway (GO:0002752), proteolysis (GO:0006508), positive regulation of opsonization (GO:1903028), cranial skeletal system development (GO:1904888), positive chemotaxis (GO:0050918)

GO Molecular Function (4): D-mannose binding (GO:0005537), chemoattractant activity (GO:0042056), protein binding (GO:0005515), carbohydrate binding (GO:0030246)

GO Cellular Component (7): extracellular region (GO:0005576), collagen trimer (GO:0005581), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), external side of plasma membrane (GO:0009897), serine-type endopeptidase complex (GO:1905370)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Creation of C4 and C2 activators	1
Complement cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
complement activation	1
innate immune response	1
innate immune response activating cell surface receptor signaling pathway	1
pattern recognition receptor signaling pathway	1
protein metabolic process	1
positive regulation of immune effector process	1
opsonization	1
positive regulation of phagocytosis	1
regulation of opsonization	1
anatomical structure development	1
chemotaxis	1
monosaccharide binding	1
receptor ligand activity	1
positive chemotaxis	1
protein-containing complex	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
plasma membrane	1
cell surface	1
side of membrane	1
serine-type peptidase complex	1
endopeptidase complex	1

Protein interactions and networks

STRING

790 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COLEC10	FCN2	Q15485	883
COLEC10	MASP2	O00187	880
COLEC10	COLEC11	Q9BWP8	874
COLEC10	FCN3	O75636	859
COLEC10	F8W876	F8W876	804
COLEC10	CD33	P20138	753
COLEC10	KIR3DL1	P43629	704
COLEC10	IL3RA	P26951	671
COLEC10	MBL2	P11226	662
COLEC10	CLEC12A	Q5QGZ9	623
COLEC10	FCN1	O00602	578
COLEC10	CD38	P28907	571
COLEC10	CD96	P40200	571
COLEC10	CCBE1	Q6UXH8	517
COLEC10	CD47	Q08722	514

IntAct

10 interactions, top by confidence:

A	B	Type	Score
MASP2	COLEC11	psi-mi:“MI:0915”(physical association)	0.520
MASP1	COLEC11	psi-mi:“MI:0915”(physical association)	0.520
COLEC11	COLEC10	psi-mi:“MI:0915”(physical association)	0.400
COLEC10	COLEC11	psi-mi:“MI:0915”(physical association)	0.400
	COLEC11	psi-mi:“MI:0915”(physical association)	0.400
COLEC10	PTX3	psi-mi:“MI:0914”(association)	0.350
COLEC10	PLOD2	psi-mi:“MI:0914”(association)	0.350
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (39): NUCB2 (Affinity Capture-MS), P3H4 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), CKAP4 (Affinity Capture-MS), MIA3 (Affinity Capture-MS), ARL8A (Affinity Capture-MS), TIMP3 (Affinity Capture-MS), PTX3 (Affinity Capture-MS), STC2 (Affinity Capture-MS), INHBE (Affinity Capture-MS), MCU (Affinity Capture-MS), DCP2 (Affinity Capture-MS), COLEC10 (Co-fractionation), PTX3 (Affinity Capture-MS)

ESM2 similar proteins: B1A4N2, B1A4P2, B1A4P8, B1A4Q3, B1A4Q5, C0STK6, O02659, P06908, P08427, P08661, P11226, P12842, P19999, P23805, P35242, P35247, P35248, P39039, P41317, P42916, P49874, P50403, P50404, Q1PBC5, Q2LK95, Q5M8X6, Q5U9S1, Q66S37, Q66S41, Q66S45, Q66S50, Q66S54, Q66S58, Q66S60, Q66S61, Q66S62, Q66S63, Q66S64, Q66S65, Q6RXL1

Diamond homologs: B1A4M7, B1A4Q6, B1A4Q8, B1A4Q9, B2D1Y0, C0STK6, O02659, P06908, P08427, P08661, P11226, P12842, P19999, P20693, P21755, P23805, P35242, P35246, P35247, P35248, P39039, P42916, P49874, P50403, P50404, P82142, Q1PBC5, Q28062, Q2LK95, Q5M8X6, Q5U9S1, Q61361, Q62028, Q66S60, Q66S61, Q66S62, Q66S63, Q66S64, Q684R7, Q6RXL1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	44
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
417733	NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)	Pathogenic
417734	NM_006438.5(COLEC10):c.228del (p.Gly77fs)	Pathogenic
417735	NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp)	Pathogenic
6968	nsv513786	Pathogenic
4072585	NM_006438.5(COLEC10):c.442+1G>A	Likely pathogenic
4081283	NM_006438.5(COLEC10):c.311G>T (p.Gly104Val)	Likely pathogenic

SpliceAI

1257 predictions. Top by Δscore:

Variant	Effect	Δscore
8:119089675:A:AG	acceptor_gain	1.0000
8:119089676:A:G	acceptor_gain	1.0000
8:119102344:TCAG:T	acceptor_loss	1.0000
8:119102345:CAGG:C	acceptor_loss	1.0000
8:119102346:A:AG	acceptor_gain	1.0000
8:119102347:G:GG	acceptor_gain	1.0000
8:119102398:GCAG:G	donor_gain	1.0000
8:119102399:CAGGT:C	donor_loss	1.0000
8:119102400:AGG:A	donor_loss	1.0000
8:119102401:GGT:G	donor_loss	1.0000
8:119102402:G:GA	donor_loss	1.0000
8:119102654:G:GT	donor_gain	1.0000
8:119102692:GCA:G	donor_gain	1.0000
8:119102695:G:GG	donor_gain	1.0000
8:119103891:GAATG:G	donor_gain	1.0000
8:119103896:GTGAG:G	donor_loss	1.0000
8:119103897:T:G	donor_loss	1.0000
8:119105797:CAGTG:C	acceptor_loss	1.0000
8:119105798:A:AG	acceptor_gain	1.0000
8:119105798:AGT:A	acceptor_gain	1.0000
8:119105799:G:GG	acceptor_gain	1.0000
8:119105799:GT:G	acceptor_gain	1.0000
8:119105799:GTG:G	acceptor_gain	1.0000
8:119105799:GTGA:G	acceptor_gain	1.0000
8:119105799:GTGAT:G	acceptor_gain	1.0000
8:119089675:AAAAG:A	acceptor_gain	0.9900
8:119091219:GG:G	donor_gain	0.9900
8:119091220:GG:G	donor_gain	0.9900
8:119102333:ATT:A	acceptor_gain	0.9900
8:119102335:T:A	acceptor_gain	0.9900

AlphaMissense

1838 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:119106126:T:A	W257R	0.999
8:119106126:T:C	W257R	0.999
8:119106128:G:C	W257C	0.999
8:119106128:G:T	W257C	0.999
8:119105883:T:A	C176S	0.998
8:119105883:T:C	C176R	0.998
8:119105884:G:A	C176Y	0.998
8:119105884:G:C	C176S	0.998
8:119105885:C:G	C176W	0.998
8:119106059:G:C	W234C	0.998
8:119106059:G:T	W234C	0.998
8:119106165:T:A	C270S	0.998
8:119106166:G:C	C270S	0.998
8:119106165:T:C	C270R	0.997
8:119106166:G:A	C270Y	0.997
8:119105914:C:A	P186H	0.996
8:119106099:T:A	C248S	0.996
8:119106100:G:C	C248S	0.996
8:119106166:G:T	C270F	0.996
8:119106167:T:G	C270W	0.996
8:119105884:G:T	C176F	0.995
8:119106099:T:C	C248R	0.995
8:119106101:T:G	C248W	0.995
8:119106141:T:A	C262S	0.995
8:119106142:G:C	C262S	0.995
8:119105914:C:G	P186R	0.994
8:119106100:G:A	C248Y	0.994
8:119106127:G:C	W257S	0.994
8:119106141:T:C	C262R	0.994
8:119106159:T:C	F268L	0.994

dbSNP variants (sampled 300 via entrez): RS1000008541 (8:119022198 T>C), RS1000086917 (8:119069194 C>T), RS1000093487 (8:118964532 A>G), RS1000104467 (8:119059713 A>G), RS1000108351 (8:119092395 C>G), RS1000121109 (8:118997667 C>T), RS1000128565 (8:119004367 C>T), RS1000133886 (8:118981826 T>G), RS1000161541 (8:118980280 A>G), RS1000165842 (8:119021567 G>A), RS1000168748 (8:119045914 G>A), RS1000190353 (8:119056013 T>A), RS1000203301 (8:119056332 G>A,C), RS1000214498 (8:119082117 C>T), RS1000237750 (8:119010178 C>T)

Disease associations

OMIM: gene MIM:607620 | disease phenotypes: MIM:248340, MIM:239000

GenCC curated gene-disease

Disease	Classification	Inheritance
3MC syndrome 3	Strong	Autosomal recessive
3MC syndrome	Supportive	Autosomal recessive

Mondo (3): 3MC syndrome 3 (MONDO:0009554), juvenile Paget disease (MONDO:0009394), 3MC syndrome (MONDO:0017398)

Orphanet (3): 3MC syndrome (Orphanet:293843), Juvenile Paget disease (Orphanet:2801), Malpuech syndrome (Orphanet:2453)

HPO phenotypes

48 total (30 of 48 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000048	Bifid scrotum
HP:0000054	Micropenis
HP:0000085	Horseshoe kidney
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000316	Hypertelorism
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000494	Downslanted palpebral fissures
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000537	Epicanthus inversus
HP:0000581	Blepharophimosis
HP:0000593	Abnormal anterior chamber morphology
HP:0000808	Penoscrotal hypospadias
HP:0000960	Sacral dimple
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0001363	Craniosynostosis
HP:0001510	Growth delay
HP:0001537	Umbilical hernia
HP:0001540	Diastasis recti
HP:0002006	Tessier cleft
HP:0002265	Large fleshy ears
HP:0002553	Highly arched eyebrow
HP:0002558	Supernumerary nipple

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST002493_13	Bone mineral density (paediatric, skull)	2.000000e-11
GCST002493_14	Bone mineral density (paediatric, skull)	3.000000e-08
GCST002546_1	Osteoprotegerin levels	8.000000e-15
GCST002546_4	Osteoprotegerin levels	8.000000e-09
GCST002587_13	Blood pressure (smoking interaction)	2.000000e-07
GCST002587_14	Blood pressure (smoking interaction)	4.000000e-06
GCST005212_12	Asthma	5.000000e-06
GCST006979_366	Heel bone mineral density	4.000000e-12
GCST007800_93	Asthma (childhood onset)	8.000000e-11
GCST010059_10	Physiological traits	5.000000e-06
GCST010653_16	Thyroid stimulating hormone levels	4.000000e-08
GCST011353_50	Serum alkaline phosphatase levels	1.000000e-27
GCST90002382_251	Eosinophil percentage of white cells	1.000000e-09
GCST90002388_259	Lymphocyte count	3.000000e-10
GCST90011899_152	Aspartate aminotransferase levels	6.000000e-09
GCST90013407_199	Liver enzyme levels (gamma-glutamyl transferase)	1.000000e-19
GCST90014023_26	Type 1 diabetes	3.000000e-10

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0006526	pack-years measurement
EFO:0006525	cigarettes per day measurement
EFO:0009270	heel bone mineral density
EFO:0005937	longitudinal BMI measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004587	lymphocyte count
EFO:0004736	aspartate aminotransferase measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C537701	Hyperostosis corticalis deformans juvenilis (supp.)
C535704	Malpuech facial clefting syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2073618	COLEC10, TNFRSF11B	3	6.25	1	anastrozole;letrozole
rs2465403	COLEC10		0.00	0
rs3134068	COLEC10, TNFRSF11B		0.00	0

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
bisphenol A	decreases methylation	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
Arsenic Trioxide	decreases expression	1
Estradiol	decreases expression	1
Fluorocarbons	affects cotreatment, increases expression	1
Hydrocarbons, Chlorinated	affects cotreatment, increases expression	1
Metals	affects cotreatment, increases expression	1
Niclosamide	increases expression	1
Pentachlorophenol	affects cotreatment, increases expression	1
Polychlorinated Biphenyls	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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