CDHR3

Summary

CDHR3 (cadherin related family member 3, HGNC:26308) is a protein-coding gene on chromosome 7q22.3, encoding Cadherin-related family member 3 (Q6ZTQ4). Cadherins are calcium-dependent cell adhesion proteins.

Predicted to enable beta-catenin binding activity and cadherin binding activity. Predicted to be involved in several processes, including calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; cell-cell adhesion mediated by cadherin; and cell-cell junction organization. Located in plasma membrane.

Source: NCBI Gene 222256 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 170 total
• MANE Select transcript: NM_152750

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26308
Approved symbol	CDHR3
Name	cadherin related family member 3
Location	7q22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ44366, FLJ23834, CDH28
Ensembl gene	ENSG00000128536
Ensembl biotype	protein_coding
OMIM	615610
Entrez	222256

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 5 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000317716, ENST00000461766, ENST00000466045, ENST00000466351, ENST00000468143, ENST00000468477, ENST00000470188, ENST00000471910, ENST00000472116, ENST00000474330, ENST00000478080, ENST00000487084, ENST00000488386, ENST00000496633, ENST00000944231

RefSeq mRNA: 2 — MANE Select: NM_152750 NM_001301161, NM_152750

CCDS: CCDS47684, CCDS75651

Canonical transcript exons

ENST00000317716 — 19 exons

Exon	Start	End
ENSE00001371010	106020373	106020544
ENSE00001378314	106017846	106018072
ENSE00001755748	106032393	106036432
ENSE00001844362	105963264	105963364
ENSE00003462331	105974844	105975046
ENSE00003470479	105980968	105981133
ENSE00003516012	106004498	106004687
ENSE00003544553	106015111	106015213
ENSE00003550613	106026682	106026695
ENSE00003559458	106015927	106016025
ENSE00003607593	106024381	106024562
ENSE00003617344	105996250	105996354
ENSE00003626614	106012860	106013031
ENSE00003646730	105984192	105984289
ENSE00003647829	106001462	106001610
ENSE00003671709	106028551	106028582
ENSE00003674323	105994751	105994845
ENSE00003688796	106030792	106030840
ENSE00003790969	106022198	106022448

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 99.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.7992 / max 322.5103, expressed in 1100 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80350	2.9912	1056
80354	0.3073	56
80351	0.2847	139
80355	0.1619	41
80353	0.0430	15
80352	0.0111	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.70	gold quality
oviduct epithelium	UBERON:0004804	99.01	gold quality
bronchial epithelial cell	CL:0002328	98.42	gold quality
bronchus	UBERON:0002185	97.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.51	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.85	gold quality
fallopian tube	UBERON:0003889	94.01	gold quality
cortical plate	UBERON:0005343	92.21	gold quality
right lung	UBERON:0002167	89.13	gold quality
cerebellar hemisphere	UBERON:0002245	88.61	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.53	gold quality
cerebellar cortex	UBERON:0002129	88.45	gold quality
cerebellum	UBERON:0002037	87.02	gold quality
epithelium of nasopharynx	UBERON:0001951	84.69	gold quality
mucosa of stomach	UBERON:0001199	84.44	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.41	gold quality
left uterine tube	UBERON:0001303	84.12	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.99	gold quality
lower esophagus	UBERON:0013473	83.80	gold quality
colonic epithelium	UBERON:0000397	82.82	gold quality
trachea	UBERON:0003126	82.80	gold quality
body of stomach	UBERON:0001161	82.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.44	gold quality
caudate nucleus	UBERON:0001873	81.89	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	81.56	gold quality
stomach	UBERON:0000945	81.42	gold quality
right lobe of liver	UBERON:0001114	81.42	gold quality
transverse colon	UBERON:0001157	81.16	gold quality
small intestine	UBERON:0002108	80.93	gold quality
endocervix	UBERON:0000458	80.74	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	780.93
E-HCAD-1	yes	26.98
E-MTAB-10287	yes	25.12
E-GEOD-130148	yes	13.73
E-GEOD-81608	yes	5.52
E-MTAB-6379	no	161.24
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

106 targeting CDHR3, 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-4682	100.00	68.89	1258
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 17)

• the role of CDHR3 variants in the development of asthma with severe exacerbations based on genome-wide association study in Denmark (PMID:24241537)
• the asthma susceptibility gene product CDHR3 mediates RV-C entry into host cells, and suggest that rs6967330 mutation could be a risk factor for RV-C wheezing illnesses. (PMID:25848009)
• CDHR3 is a susceptibility locus for early childhood Asthma with severe exacerbations. (PMID:26270739)
• we have determined that carriers of rs6967330 are at significantly increased risk for CRS. (PMID:27923563)
• Our study supports the concept that the CDHR3 variant is an important susceptibility factor for severe adult asthma in individuals who develop the disease in early life. (PMID:28318885)
• In summary, the CDHR3 asthma-risk variant at rs6967330 was not associated with severe RSV bronchiolitis. (PMID:28782631)
• A genome-wide association study (GWAS) focusing on childhood asthma with recurrent severe exacerbations revealed a nonsynonymous SNP (rs6967330) in the CDHR3 (cadherin-related family member 3) gene that was associated specifically with this phenotype. (PMID:29121479)
• A single nucleotide polymorphism (rs6967330) in CDHR3 increases cell surface expression of this protein and, as a result, also promotes Human rhinovirus-C infections and illnesses. (PMID:30659817)
• Polymorphisms in CDHR3 rs6967330 locus (G–>A) previously associated with childhood asthma were related to differences in CDHR3 expression and epithelial cell function. The rs6967330 A allele was associated with higher overall protein expression and RV-C binding and replication compared with the rs6967330 G allele. The rs6967330 A allele was associated with earlier ciliogenesis and higher FOXJ1 expression. (PMID:30916989)
• The rs6967330 SNP of CDHR3 confers risk of severe childhood asthma exacerbations, likely through increasing HRV-C infection levels and protein surface localization. (PMID:30930175)
• Cadherin-related family member 3 gene impacts childhood asthma in Chinese children. (PMID:31610042)
• Genetic susceptibility to severe childhood asthma and rhinovirus-C maintained by balancing selection in humans for 150 000 years. (PMID:31841129)
• Cadherin-related family member 3 upregulates the effector functions of eosinophils. (PMID:32056219)
• Genetic impact of CDHR3 on the adult onset of asthma and COPD. (PMID:32615023)
• Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility. (PMID:33213402)
• The role of CDHR3 in susceptibility to otitis media. (PMID:34322716)
• Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB. (PMID:35381269)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cdhr3	ENSMUSG00000035860
rattus_norvegicus	Cdhr3	ENSRNOG00000047455

Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)

Protein

Protein identifiers

Cadherin-related family member 3 — Q6ZTQ4 (reviewed: Q6ZTQ4)

Alternative names: Cadherin-like protein 28

All UniProt accessions (6): Q6ZTQ4, E7EQG5, E9PEI5, F8WF00, H7C548, H7C555

UniProt curated annotations — full annotation on UniProt →

Function. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. (Microbial infection) Acts as a receptor for human rhinovirus C.

Subunit / interactions. (Microbial infection) Interacts (via N-terminus) with human rhinovirus C capsid proteins VP1, VP2 and VP3.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in bronchial epithelium from adults and in fetal lung tissue.

Disease relevance. Asthma susceptibility may be associated with variants affecting the gene represented in this entry in early childhood asthma with severe exacerbations occurring between 2 and 6 years of age.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZTQ4-1	1	yes
Q6ZTQ4-2	2

RefSeq proteins (2): NP_001288090, NP_689963* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR039808	Cadherin	Family

Pfam: PF00028

UniProt features (37 total): strand 11, domain 6, mutagenesis site 4, glycosylation site 3, splice variant 3, sequence variant 3, topological domain 2, signal peptide 1, chain 1, region of interest 1, turn 1, transmembrane region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6PPO	ELECTRON MICROSCOPY	3.2
6PSF	ELECTRON MICROSCOPY	3.5
7KNV	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZTQ4-F1	78.08	0.38

Functional residue map

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

Glycosylation sites (3): 186, 257, 624

Mutagenesis-validated functional residues (4):

Position	Phenotype
26	complete loss of interaction with human rhinovirus c.
100	complete loss of interaction with human rhinovirus c.
102	complete loss of interaction with human rhinovirus c.
118	complete loss of interaction with human rhinovirus c.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 95 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_CALCIUM_DEPENDENT_CELL_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_HOST, GOBP_VIRAL_LIFE_CYCLE, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_ADHERENS_JUNCTION_ORGANIZATION, GOBP_CELL_CELL_JUNCTION_ASSEMBLY, GOCC_CELL_CELL_JUNCTION, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_ANCHORING_JUNCTION, GOCC_EXTRINSIC_COMPONENT_OF_MEMBRANE, GOCC_EXTRINSIC_COMPONENT_OF_PLASMA_MEMBRANE

GO Biological Process (10): cell morphogenesis (GO:0000902), cell-cell junction assembly (GO:0007043), homophilic cell-cell adhesion (GO:0007156), calcium-dependent cell-cell adhesion (GO:0016339), cell migration (GO:0016477), adherens junction organization (GO:0034332), cell-cell adhesion mediated by cadherin (GO:0044331), cell adhesion (GO:0007155), symbiont entry into host cell (GO:0046718), cell-cell adhesion (GO:0098609)

GO Molecular Function (5): virus receptor activity (GO:0001618), calcium ion binding (GO:0005509), beta-catenin binding (GO:0008013), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), adherens junction (GO:0005912), catenin complex (GO:0016342), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	3
cell-cell junction organization	2
anatomical structure morphogenesis	1
cell junction assembly	1
cell motility	1
cellular process	1
viral life cycle	1
symbiont entry into host	1
cell adhesion	1
symbiont entry into host cell	1
exogenous protein binding	1
metal ion binding	1
protein binding	1
cell adhesion molecule binding	1
binding	1
membrane	1
cell periphery	1
cell-cell junction	1
extrinsic component of plasma membrane	1
plasma membrane protein complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

674 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDHR3	GSDMB	Q8TAX9	626
CDHR3	ORMDL3	Q8N138	625
CDHR3	LDLRAD1	Q5T700	556
CDHR3	ICAM1	P05362	513
CDHR3	IL33	O95760	467
CDHR3	IL1RL1	Q01638	455
CDHR3	SHISA8	B8ZZ34	454
CDHR3	CIMAP3	Q8TCI5	448
CDHR3	TSLP	Q969D9	445
CDHR3	TXLNB	Q8N3L3	442
CDHR3	CDH23	Q9H251	431
CDHR3	VPS9D1	Q9Y2B5	430
CDHR3	FOXJ1	Q92949	409
CDHR3	ASB3	Q9Y575	385
CDHR3	DENND1B	Q6P3S1	384

IntAct

23 interactions, top by confidence:

A	B	Type	Score
CDHR3	CXorf38	psi-mi:“MI:0915”(physical association)	0.560
CDHR3	PARVG	psi-mi:“MI:0915”(physical association)	0.560
CDHR3	NEIL2	psi-mi:“MI:0915”(physical association)	0.560
CDHR3	CLN3	psi-mi:“MI:0915”(physical association)	0.560
CDHR3	SRP9	psi-mi:“MI:0915”(physical association)	0.560
ARHGAP25	CDHR3	psi-mi:“MI:0915”(physical association)	0.560
CCT8	CDHR3	psi-mi:“MI:0915”(physical association)	0.560
CDHR3	PLXNB2	psi-mi:“MI:0914”(association)	0.350
CXorf38	CDHR3	psi-mi:“MI:0915”(physical association)	0.000
PARVG	CDHR3	psi-mi:“MI:0915”(physical association)	0.000
NEIL2	CDHR3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): PARVG (Two-hybrid), NEIL2 (Two-hybrid), CXorf38 (Two-hybrid), PLXNB2 (Affinity Capture-MS), CLSTN1 (Affinity Capture-MS), EXOG (Affinity Capture-MS), PYGB (Affinity Capture-MS), CDHR3 (Affinity Capture-RNA), CDHR3 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1S4GGP7, B3EWY9, B3EWZ3, B8V7Q1, B8VIW9, F1QSQ0, F8W3X3, G5EDK5, O35902, O54800, P33450, P35443, P49744, P55280, P55285, P55286, P55289, P70407, P70408, P79995, P97291, P97326, Q08DJ5, Q09165, Q13634, Q19319, Q24298, Q3SWX5, Q5DWV2, Q5RJH3, Q68SP4, Q6JAN0, Q6ZTQ4, Q8BL00, Q8BM92, Q8VHN7, Q8WXG9, Q90762, Q90763, Q91838

Diamond homologs: D3ZE55, H2EQR6, O18926, O55075, O75309, O88338, O95206, P55281, Q12864, Q14574, Q28634, Q5DRA7, Q5DRB3, Q5DRC3, Q5DRC6, Q5DRC7, Q5DRD3, Q5DRD8, Q5DRE2, Q6ZTQ4, Q7TSK3, Q80TF3, Q86SJ6, Q8WN91, Q91Y02, Q9BZA7, Q9H158, Q9R100, Q9VEU1, Q9Y5E2, Q9Y5E8, Q9Y5G0, Q9Y5G6, Q6W3B0, Q8BL00, P79883, Q08174

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	124
Likely benign	24
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3882 predictions. Top by Δscore:

Variant	Effect	Δscore
7:105980962:TTTTA:T	acceptor_loss	1.0000
7:105980963:TTTAG:T	acceptor_loss	1.0000
7:105980964:TTAG:T	acceptor_loss	1.0000
7:105980965:TA:T	acceptor_loss	1.0000
7:105980966:A:G	acceptor_loss	1.0000
7:105996248:A:AG	acceptor_gain	1.0000
7:105996249:G:GG	acceptor_gain	1.0000
7:106001609:GT:G	donor_gain	1.0000
7:106011799:G:GT	donor_gain	1.0000
7:106011803:GCTC:G	donor_gain	1.0000
7:106015104:A:AG	acceptor_gain	1.0000
7:106015106:TCTA:T	acceptor_loss	1.0000
7:106015107:CTAGC:C	acceptor_loss	1.0000
7:106015108:TA:T	acceptor_loss	1.0000
7:106015109:A:AG	acceptor_gain	1.0000
7:106015109:AGC:A	acceptor_loss	1.0000
7:106015109:AGCT:A	acceptor_gain	1.0000
7:106015110:G:GA	acceptor_gain	1.0000
7:106015110:GC:G	acceptor_gain	1.0000
7:106015110:GCT:G	acceptor_gain	1.0000
7:106015110:GCTG:G	acceptor_gain	1.0000
7:106015110:GCTGA:G	acceptor_gain	1.0000
7:106015214:GCAA:G	donor_gain	1.0000
7:106022384:G:GT	donor_gain	1.0000
7:106022385:A:T	donor_gain	1.0000
7:106022391:GACAC:G	donor_gain	1.0000
7:106022395:C:CG	donor_gain	1.0000
7:106022395:C:G	donor_gain	1.0000
7:106028549:A:AG	acceptor_gain	1.0000
7:106028550:G:GG	acceptor_gain	1.0000

AlphaMissense

5810 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:106022216:T:C	F615S	0.984
7:106001514:G:C	A256P	0.983
7:106020374:T:A	V552D	0.977
7:106004510:T:A	I292N	0.974
7:106020495:T:G	C592W	0.971
7:106020493:T:C	C592R	0.970
7:106012918:T:C	C371R	0.969
7:106020415:T:C	C566R	0.969
7:106012960:T:C	F385L	0.965
7:106012962:C:A	F385L	0.965
7:106012962:C:G	F385L	0.965
7:105981074:T:C	L119P	0.964
7:106020415:T:A	C566S	0.964
7:106020416:G:C	C566S	0.964
7:106001526:G:C	A260P	0.963
7:105981080:T:A	V121D	0.961
7:106012918:T:A	C371S	0.961
7:106012919:G:C	C371S	0.961
7:106017981:T:C	L521P	0.961
7:106020494:G:A	C592Y	0.961
7:105996347:T:C	F236L	0.960
7:105996349:T:A	F236L	0.960
7:105996349:T:G	F236L	0.960
7:106001488:A:T	E247V	0.960
7:106032413:T:C	F792L	0.960
7:106032415:C:A	F792L	0.960
7:106032415:C:G	F792L	0.960
7:106004504:G:T	G290V	0.959
7:106020493:T:A	C592S	0.959
7:106020494:G:C	C592S	0.959

dbSNP variants (sampled 300 via entrez): RS1000003068 (7:105992888 T>G), RS1000013714 (7:106030492 C>A), RS1000175397 (7:105990322 C>G,T), RS1000206774 (7:105990016 G>A), RS1000221492 (7:106036646 C>T), RS1000282841 (7:106018521 C>A), RS1000404972 (7:105996077 G>A,C,T), RS1000435409 (7:106007531 A>C), RS1000447964 (7:105984444 G>A), RS1000488690 (7:106005794 T>A), RS1000616657 (7:105966750 C>T), RS1000617607 (7:105966913 G>A), RS1000649822 (7:106007892 A>G), RS1000656660 (7:105971427 A>C), RS1000706332 (7:106029660 C>T)

Disease associations

OMIM: gene MIM:615610 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002275_1	Asthma (childhood onset)	3.000000e-14
GCST003987_24	Asthma	2.000000e-08
GCST003991_11	Childhood ear infection	5.000000e-09
GCST005013_53	Childhood ear infection	5.000000e-09
GCST005918_1	Smoking cessation in chronic obstructive pulmonary disease	2.000000e-07
GCST007540_6	PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia	1.000000e-06
GCST009597_278	Multiple sclerosis	6.000000e-10
GCST011975_2	Childhood asthma with severe exacerbations	2.000000e-23

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0004319	smoking cessation
EFO:0004881	asparaginase hypersensitivity
EFO:0007614	asthma exacerbation measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation, increases mutagenesis	5
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
abrine	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Urethane	decreases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C8ZH	H1-HeLa+CHDR3	Cancer cell line	Female
CVCL_C8ZI	H1-HeLa+CDHR3 SETD3KO	Cancer cell line	Female

Clinical trials (associated diseases)

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