Asthma

Summary

Asthma (MONDO:0004979) is a disease (an umbrella term covering 8 Mondo subtypes) with 75 cohort genes (3,219 GWAS associations across 280 studies) and 3,826 clinical trials. The dominant Reactome pathway is TNFs bind their physiological receptors (8 cohort genes). Top therapeutic interventions include montelukast, albuterol, and salmeterol.

At a glance

• Umbrella term: 8 Mondo subtypes
• Cohort genes: 75
• GWAS associations: 3,219
• ClinVar variants: 12
• Clinical trials: 3,826

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	asthma
Mondo ID	MONDO:0004979
MeSH	D001249
DOID	DOID:2841
ICD-10-CM	J45
ICD-11	1656445230
NCIT	C28397
SNOMED CT	31387002
UMLS	C0004096
MedGen	2109
Is cancer (heuristic)	no

Also known as: chronic obstructive asthma · chronic obstructive asthma with acute exacerbation · chronic obstructive asthma with status asthmaticus · exercise induced asthma · exercise-induced asthma

Data availability: 12 ClinVar variants · 3,219 GWAS associations (280 studies) · 1 HPO phenotype · 1 cell line.

Disease family

An umbrella term covering 8 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › bronchial disorder › asthma

Related subtypes (5): bronchial neoplasm, bronchitis, bronchiectasis, non-syndromic bridging bronchus, non-syndromic congenital bronchial atresia

Subtypes (8): cough variant asthma, intrinsic asthma, status asthmaticus, allergic asthma, childhood onset asthma, occupational asthma, chronic asthma, acute asthma

Genetics & variants

GWAS landscape

3,219 GWAS associations across 280 studies. Top hits map to 16 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs28383454	2e-116	HLA-DQA1	T	1.18
rs7749543	8e-115	HLA-DQB2 - HLA-DOB	?
rs9273123	4e-105	HLA-DQA1	A	1.19
rs9276643	7e-105	HLA-DQB2 - HLA-DOB	?
rs28798705	6e-104	HLA-DQA1 - HLA-DQB1	A	1.18
rs72823641	1e-78	IL18R1, IL1RL1	T	1.16
rs7936312	1e-77	EMSY - LINC02757	T	1.11
rs992969	3e-72	GTF3AP1 - IL33	A	1.15
rs60227565	5e-71	CFAP144P2 - IL1RL1	G	1.2
rs7848215	9e-71	GTF3AP1 - IL33	T	1.15
rs28407950	7e-70	HLA-DQA1 - HLA-DQB1	C	1.12
rs4795399	7e-65	GSDMB	T	2.29
rs28690449	2e-64	TLR10 - TLR1	C	1.12
rs11655198	1e-63	ZPBP2	?	1.18
rs1008723	2e-62	GSDMB	G	1.11
rs11236797	6e-62	EMSY - LINC02757	A	1.12
rs1438673	7e-62	WDR36 - RPS3AP21	C	1.09
rs2428494	2e-60	HLA-B	A	1.12
rs34290285	6e-58	D2HGDH	G	1.11
rs9901146	4e-57	ZPBP2 - GSDMB	G
rs12470864	2e-56	CFAP144P2 - IL1RL1	A	1.12
rs1861245	1e-52	IL18R1, IL1RL1	C	1.12
rs1837253	1e-51	BCLAF1P1 - TSLP	C	1.11
rs1444782	1e-48	LINC02676 - LINC00709	G	1.1
rs1775554	2e-46	LINC02676 - LINC00709	A	1.1
rs72743461	3e-46	SMAD3	A	1.12
rs12935657	6e-45	CLEC16A	G	1.09
rs6881270	3e-44	IL7R	C	1.09
rs62557312	3e-43	RANBP6 - GTF3AP1	C	1.13
rs55646091	9e-42	EMSY - LINC02757	A	1.24

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST007798	Ferreira MAR	2019	40,544	300,671	Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
GCST003987	Pickrell JK	2016	28,399	128,843	Detection and interpretation of shared genetic influences on 42 human traits.
GCST007563	Zhu Z	2018	25,685	76,768	A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.
GCST005212	Demenais F	2017	19,954	107,715	Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
GCST006862	Demenais F	2017	19,954	107,715	Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
GCST007596	Dahlin A	2018	16,274	38,269	Large-scale, multi-ethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults.
GCST007562	Zhu Z	2018	14,085	76,768	A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.
GCST007564	Zhu Z	2018	14,085	76,768	A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.
GCST001226	Ferreira MA	2011	12,475	19,967	Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.
GCST000804	Moffatt MF	2010	10,365	16,110	A large-scale, consortium-based genomewide association study of asthma.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	2
Tier 3: regulatory	4
Tier 4: intronic/intergenic	43

MAF distribution

Bucket	Variants
common (>=0.05)	47
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	2

Functional consequences

Consequence	Count
intron_variant	23
intergenic_variant	20
regulatory_region_variant	4
3_prime_UTR_variant	2
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs28383454	6	32641593	G>C,T	0.05	intron_variant	HLA-DQA1	2e-116	Tier 4: intronic/intergenic
rs7749543	6	32783639	G>A,T	0.05	intergenic_variant	HLA-DQB2 - HLA-DOB	8e-115	Tier 4: intronic/intergenic
rs9273123	6	32644956	G>A	0.05	intergenic_variant	HLA-DQA1	4e-105	Tier 4: intronic/intergenic
rs9276643	6	32777057	G>A,C,T	0.05	intergenic_variant	HLA-DQB2 - HLA-DOB	7e-105	Tier 4: intronic/intergenic
rs28798705	6	32650032	A>G,T	0.05	intergenic_variant	HLA-DQA1 - HLA-DQB1	6e-104	Tier 4: intronic/intergenic
rs72823641	2	102319699	T>A,C	0.137	intron_variant	IL18R1, IL1RL1	1e-78	Tier 4: intronic/intergenic
rs7936312	11	76582682	G>C,T	0.477	intergenic_variant	EMSY - LINC02757	1e-77	Tier 4: intronic/intergenic
rs992969	9	6209697	A>C,G,T	0.05	intergenic_variant	GTF3AP1 - IL33	3e-72	Tier 4: intronic/intergenic
rs60227565	2	102275879	G>A,C,T	0.05	intron_variant	CFAP144P2 - IL1RL1	5e-71	Tier 4: intronic/intergenic
rs7848215	9	6213468	C>A,G,T	0.05	intergenic_variant	GTF3AP1 - IL33	9e-71	Tier 4: intronic/intergenic
rs28407950	6	32658571	C>G,T	0.244	intergenic_variant	HLA-DQA1 - HLA-DQB1	7e-70	Tier 4: intronic/intergenic
rs4795399	17	39905186	T>A,C	0.471	intron_variant	GSDMB	7e-65	Tier 4: intronic/intergenic
rs28690449	4	38787511	C>A,G,T	0.201	intergenic_variant	TLR10 - TLR1	2e-64	Tier 4: intronic/intergenic
rs11655198	17	39869916	C>T	0.05	intron_variant	ZPBP2	1e-63	Tier 4: intronic/intergenic
rs1008723	17	39910014	G>C,T	0.489	intron_variant	GSDMB	2e-62	Tier 4: intronic/intergenic
rs11236797	11	76588605	C>A	0.05	regulatory_region_variant	EMSY - LINC02757	6e-62	Tier 3: regulatory
rs1438673	5	111131801	C>A,G,T	0.483	intergenic_variant	WDR36 - RPS3AP21	7e-62	Tier 4: intronic/intergenic
rs2428494	6	31354420	T>A,C,G	0.05	intron_variant	HLA-B	2e-60	Tier 4: intronic/intergenic
rs34290285	2	241759225	G>A	0.255	intron_variant	D2HGDH	6e-58	Tier 4: intronic/intergenic
rs9901146	17	39887090	G>A	0.49	intergenic_variant	ZPBP2 - GSDMB	4e-57	Tier 4: intronic/intergenic
rs12470864	2	102309902	G>A,T	0.05	intergenic_variant	CFAP144P2 - IL1RL1	2e-56	Tier 4: intronic/intergenic
rs1861245	2	102350446	C>T	0.05	intron_variant	IL18R1, IL1RL1	1e-52	Tier 4: intronic/intergenic
rs1837253	5	111066174	T>C	0.261	intron_variant	BCLAF1P1 - TSLP	1e-51	Tier 4: intronic/intergenic
rs1444782	10	9016708	G>A	0.424	intron_variant	LINC02676 - LINC00709	1e-48	Tier 4: intronic/intergenic
rs1775554	10	9012377	A>C,G,T	0.05	intron_variant	LINC02676 - LINC00709	2e-46	Tier 4: intronic/intergenic
rs72743461	15	67149412	C>A,T	0.05	intron_variant	SMAD3	3e-46	Tier 4: intronic/intergenic
rs12935657	16	11125184	G>A,T	0.244	intron_variant	CLEC16A	6e-45	Tier 4: intronic/intergenic
rs6881270	5	35878993	C>T	0.275	3_prime_UTR_variant	IL7R	3e-44	Tier 2: splice/UTR
rs62557312	9	6047765	C>G,T	0.05	intron_variant	RANBP6 - GTF3AP1	3e-43	Tier 4: intronic/intergenic
rs55646091	11	76588387	G>A	0.05	regulatory_region_variant	EMSY - LINC02757	9e-42	Tier 3: regulatory

ClinVar germline variants

12 retrieved; paginated sample, class counts are floors:

6 uncertain significance, 2 likely pathogenic, 2 pathogenic, 1 benign, 1 risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
267847	46;XY;t(9;11)(q34;p11.2)dn		Pathogenic	criteria provided, single submitter
48648	NM_032415.7(CARD11):c.367G>A (p.Gly123Ser)	CARD11	Pathogenic	criteria provided, multiple submitters, no conflicts
267807	46;XY;t(7;9)(q21;p23)dn		Likely pathogenic	criteria provided, single submitter
267892	46;XX;t(4;14)(p15.2;q13)dn		Likely pathogenic	criteria provided, single submitter
638564	NM_004117.4(FKBP5):c.106-2332A>C	FKBP5	risk factor	no assertion criteria provided
267810	46;XX;t(4;15)(q31.3;q15)		Uncertain significance	criteria provided, single submitter
267820	46;XY;t(16;20)(q11.2;q13.2)dn		Uncertain significance	criteria provided, single submitter
267862	46;XY;t(1;3)(p22;q21)dn		Uncertain significance	criteria provided, single submitter
267914	46;XY;t(9;14)(p21;q12)dn		Uncertain significance	criteria provided, single submitter
267924	46;XY;t(16;20)(q23.1;p11.22)		Uncertain significance	criteria provided, single submitter
267942	46;XY;t(1;14)(q42;q13)		Uncertain significance	criteria provided, single submitter
12712	NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)	TBXA2R	Benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 55 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 1

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
CARD11	CARD11	GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CARD11	Orphanet:300324	Persistent polyclonal B-cell lymphocytosis
CARD11	Orphanet:357237	Combined immunodeficiency due to CARD11 deficiency
CARD11	Orphanet:464336	BENTA disease
CARD11	Orphanet:619972	CADINS disease
BCL6	Orphanet:480541	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
BCL6	Orphanet:545	Follicular lymphoma
BCL6	Orphanet:98838	Primary mediastinal large B-cell lymphoma
BCL6	Orphanet:98839	Intravascular large B-cell lymphoma
RHO	Orphanet:215	Congenital stationary night blindness
RHO	Orphanet:52427	Retinitis punctata albescens
RHO	Orphanet:791	Retinitis pigmentosa
BCR	Orphanet:261330	Distal 22q11.2 microdeletion syndrome
BCR	Orphanet:521	Chronic myeloid leukemia
BCR	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
BCR	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia
RORA	Orphanet:528084	Non-specific syndromic intellectual disability
RORC	Orphanet:477857	Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RPL5	Orphanet:124	Diamond-Blackfan anemia
CFB	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality
RPS26	Orphanet:124	Diamond-Blackfan anemia
RUNX1	Orphanet:102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
RUNX1	Orphanet:521	Chronic myeloid leukemia
RUNX1	Orphanet:71290	Familial platelet disorder with associated myeloid malignancy
RUNX1	Orphanet:98850	Aggressive systemic mastocytosis
RYR1	Orphanet:169186	Autosomal recessive centronuclear myopathy
RYR1	Orphanet:169189	Autosomal dominant centronuclear myopathy
RYR1	Orphanet:178145	Moderate multiminicore disease with hand involvement
RYR1	Orphanet:324581	Benign Samaritan congenital myopathy
RYR1	Orphanet:33108	Lethal multiple pterygium syndrome
RYR1	Orphanet:423	Malignant hyperthermia of anesthesia
RYR1	Orphanet:424107	Congenital myopathy with myasthenic-like onset
RYR1	Orphanet:466650	Exercise-induced malignant hyperthermia
RYR1	Orphanet:597	Central core disease
RYR1	Orphanet:700188	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
RYR1	Orphanet:98905	Congenital multicore myopathy with external ophthalmoplegia
RYR1	Orphanet:99741	King-Denborough syndrome
SARDH	Orphanet:3129	Sarcosinemia
ATXN2	Orphanet:803	Amyotrophic lateral sclerosis
ATXN2	Orphanet:98756	Spinocerebellar ataxia type 2
SGCG	Orphanet:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
SKIC2	Orphanet:84064	Trichohepatoenteric syndrome
SLCO1B1	Orphanet:3111	Rotor syndrome
SLC22A5	Orphanet:158	Systemic primary carnitine deficiency
SLC34A1	Orphanet:157215	Hereditary hypophosphatemic rickets with hypercalciuria
SLC34A1	Orphanet:244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SLC34A1	Orphanet:300547	Autosomal recessive infantile hypercalcemia
SLC34A1	Orphanet:3337	Primary Fanconi renotubular syndrome
SMARCA2	Orphanet:3051	Nicolaides-Baraitser syndrome
SMARCA2	Orphanet:637013	SMARCA2-related blepharophimosis-intellectual disability syndrome
SMARCC2	Orphanet:1465	Coffin-Siris syndrome

Cohort genes → proteins

75 cohort genes, 67 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	74
gwas_and_clinvar	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CARD11	HGNC:16393	ENSG00000198286	Q9BXL7	Caspase recruitment domain-containing protein 11	gwas,clinvar
BCL6	HGNC:1001	ENSG00000113916	P41182	B-cell lymphoma 6 protein	gwas
RHO	HGNC:10012	ENSG00000163914	P08100	Rhodopsin	gwas
RING1	HGNC:10018	ENSG00000204227	Q06587	E3 ubiquitin-protein ligase RING1	gwas
RNF14	HGNC:10058	ENSG00000013561	Q9UBS8	E3 ubiquitin-protein ligase RNF14	gwas
RNF5	HGNC:10068	ENSG00000204308	Q99942	E3 ubiquitin-protein ligase RNF5	gwas
BCR	HGNC:1014	ENSG00000186716	P11274	Breakpoint cluster region protein	gwas
SNORD21	HGNC:10144	ENSG00000206680		small nucleolar RNA, C/D box 21	gwas
SNORD48	HGNC:10188	ENSG00000201823		small nucleolar RNA, C/D box 48	gwas
SNORD52	HGNC:10202	ENSG00000201754		small nucleolar RNA, C/D box 52	gwas
SNORA66	HGNC:10223	ENSG00000207523		small nucleolar RNA, H/ACA box 66	gwas
RORA	HGNC:10258	ENSG00000069667	P35398	Nuclear receptor ROR-alpha	gwas
RORC	HGNC:10260	ENSG00000143365	P51449	Nuclear receptor ROR-gamma	gwas
RPL19	HGNC:10312	ENSG00000108298	P84098	Large ribosomal subunit protein eL19	gwas
RPL41	HGNC:10354	ENSG00000229117	P62945	Small ribosomal subunit protein eS32	gwas
RPL41P2	HGNC:10357	ENSG00000256338		ribosomal protein L41 pseudogene 2	gwas
RPL5	HGNC:10360	ENSG00000122406	P46777	Large ribosomal subunit protein uL18	gwas
CFB	HGNC:1037	ENSG00000243649	P00751	Complement factor B	gwas
RPS26	HGNC:10414	ENSG00000197728	P62854	Small ribosomal subunit protein eS26	gwas
RUNX1	HGNC:10471	ENSG00000159216	Q01196	Runt-related transcription factor 1	gwas
RUNX3	HGNC:10473	ENSG00000020633	Q13761	Runt-related transcription factor 3	gwas
RYBP	HGNC:10480	ENSG00000163602	Q8N488	RING1 and YY1-binding protein	gwas
RYR1	HGNC:10483	ENSG00000196218	P21817	Ryanodine receptor 1	gwas
S100A10	HGNC:10487	ENSG00000197747	P60903	Protein S100-A10	gwas
S100A11	HGNC:10488	ENSG00000163191	P31949	Protein S100-A11	gwas
S100A12	HGNC:10489	ENSG00000163221	P80511	Protein S100-A12	gwas
S100A8	HGNC:10498	ENSG00000143546	P05109	Protein S100-A8	gwas
S100A9	HGNC:10499	ENSG00000163220	P06702	Protein S100-A9	gwas
BID	HGNC:1050	ENSG00000015475	P55957	BH3-interacting domain death agonist	gwas
SARDH	HGNC:10536	ENSG00000123453	Q9UL12	Sarcosine dehydrogenase, mitochondrial	gwas
ATXN2	HGNC:10555	ENSG00000204842	Q99700	Ataxin-2	gwas
CXCR5	HGNC:1060	ENSG00000160683	P32302	C-X-C chemokine receptor type 5	gwas
CCL20	HGNC:10619	ENSG00000115009	P78556	C-C motif chemokine 20	gwas
CCL22	HGNC:10621	ENSG00000102962	O00626	C-C motif chemokine 22	gwas
SEMG2	HGNC:10743	ENSG00000124157	Q02383	Semenogelin-2	gwas
SGCG	HGNC:10809	ENSG00000102683	Q13326	Gamma-sarcoglycan	gwas
SHMT2	HGNC:10852	ENSG00000182199	P34897	Serine hydroxymethyltransferase, mitochondrial	gwas
PMEL	HGNC:10880	ENSG00000185664	P40967	Melanocyte protein PMEL	gwas
SIM2	HGNC:10883	ENSG00000159263	Q14190	Single-minded homolog 2	gwas
SIPA1	HGNC:10885	ENSG00000213445	Q96FS4	Signal-induced proliferation-associated protein 1	gwas
SKIC2	HGNC:10898	ENSG00000204351	Q15477	Superkiller complex protein 2	gwas
SLCO1A2	HGNC:10956	ENSG00000084453	P46721	Solute carrier organic anion transporter family member 1A2	gwas
SLCO1B1	HGNC:10959	ENSG00000134538	Q9Y6L6	Solute carrier organic anion transporter family member 1B1	gwas
SLC22A4	HGNC:10968	ENSG00000197208	Q9H015	Solute carrier family 22 member 4	gwas
SLC22A5	HGNC:10969	ENSG00000197375	O76082	Organic cation/carnitine transporter 2	gwas
SLC24A2	HGNC:10976	ENSG00000155886	Q9UI40	Sodium/potassium/calcium exchanger 2	gwas
BRAP	HGNC:1099	ENSG00000089234	Q7Z569	BRCA1-associated protein	gwas
SLC34A1	HGNC:11019	ENSG00000131183	Q06495	Sodium-dependent phosphate transport protein 2A	gwas
BRD2	HGNC:1103	ENSG00000204256	P25440	Bromodomain-containing protein 2	gwas
SLC6A12	HGNC:11045	ENSG00000111181	P48065	Sodium- and chloride-dependent betaine transporter	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CARD11	Caspase recruitment domain-containing protein 11	Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement.
BCL6	B-cell lymphoma 6 protein	Transcriptional repressor mainly required for germinal center (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions.
RHO	Rhodopsin	Photoreceptor required for image-forming vision at low light intensity.
RING1	E3 ubiquitin-protein ligase RING1	Constitutes one of the E3 ubiquitin-protein ligases that mediate monoubiquitination of ‘Lys-119’ of histone H2A, thereby playing a central role in histone code and gene regulation.
RNF14	E3 ubiquitin-protein ligase RNF14	E3 ubiquitin-protein ligase that plays a key role in the RNF14-RNF25 translation quality control pathway, a pathway that takes place when a ribosome has stalled during translation, and which promotes ubiquitination and degradation of trans…
RNF5	E3 ubiquitin-protein ligase RNF5	Membrane-bound E3 ubiquitin-protein ligase that mediates ubiquitination of target proteins.
BCR	Breakpoint cluster region protein	Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins.
RORA	Nuclear receptor ROR-alpha	Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5’-AGGTCA-3’ preceded by a short A-T-rich sequence.
RORC	Nuclear receptor ROR-gamma	Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5’-AGGTCA-3’ preceded by a short A-T-rich sequence.
RPL19	Large ribosomal subunit protein eL19	Component of the large ribosomal subunit.
RPL41	Small ribosomal subunit protein eS32	Component of the small ribosomal subunit (Ref.8).
RPL5	Large ribosomal subunit protein uL18	Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.
CFB	Complement factor B	Precursor of the catalytic component of the C3 and C5 convertase complexes of the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the…
RPS26	Small ribosomal subunit protein eS26	Component of the small ribosomal subunit.
RUNX1	Runt-related transcription factor 1	Forms the heterodimeric complex core-binding factor (CBF) with CBFB.
RUNX3	Runt-related transcription factor 3	Forms the heterodimeric complex core-binding factor (CBF) with CBFB.
RYBP	RING1 and YY1-binding protein	Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development.
RYR1	Ryanodine receptor 1	Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules.
S100A10	Protein S100-A10	Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine-specific kinase.
S100A11	Protein S100-A11	Facilitates the differentiation and the cornification of keratinocytes.
S100A12	Protein S100-A12	S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response.
S100A8	Protein S100-A8	S100A8 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response.
S100A9	Protein S100-A9	S100A9 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response.
BID	BH3-interacting domain death agonist	Induces caspases and apoptosis.
SARDH	Sarcosine dehydrogenase, mitochondrial	Catalyzes the last step of the oxidative degradation of choline to glycine.
ATXN2	Ataxin-2	Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
CXCR5	C-X-C chemokine receptor type 5	Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC).
CCL20	C-C motif chemokine 20	Acts as a ligand for C-C chemokine receptor CCR6.
CCL22	C-C motif chemokine 22	May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology.
SEMG2	Semenogelin-2	Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa.
SGCG	Gamma-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
SHMT2	Serine hydroxymethyltransferase, mitochondrial	Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis.
PMEL	Melanocyte protein PMEL	Forms physiological amyloids that play a central role in melanosome morphogenesis and pigmentation.
SIM2	Single-minded homolog 2	Transcription factor that may be a master gene of CNS development in cooperation with Arnt.
SIPA1	Signal-induced proliferation-associated protein 1	GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state.
SKIC2	Superkiller complex protein 2	Helicase component of the SKI complex, a multiprotein complex that assists the RNA-degrading exosome during the mRNA decay and quality-control pathways.
SLCO1A2	Solute carrier organic anion transporter family member 1A2	Na(+)-independent transporter that mediates the cellular uptake of a broad range of organic anions such as the endogenous bile salts cholate and deoxycholate, either in their unconjugated or conjugated forms (taurocholate and glycocholate)…
SLCO1B1	Solute carrier organic anion transporter family member 1B1	Mediates the Na(+)-independent uptake of organic anions.
SLC22A4	Solute carrier family 22 member 4	Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations.
SLC22A5	Organic cation/carnitine transporter 2	Sodium-ion dependent, high affinity carnitine transporter.
SLC24A2	Sodium/potassium/calcium exchanger 2	Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).
BRAP	BRCA1-associated protein	Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein.
SLC34A1	Sodium-dependent phosphate transport protein 2A	Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane.
BRD2	Bromodomain-containing protein 2	Chromatin reader protein that specifically recognizes and binds histone H4 acetylated at ‘Lys-5’ and ‘Lys-12’ (H4K5ac and H4K12ac, respectively), thereby controlling gene expression and remodeling chromatin structures.
SLC6A12	Sodium- and chloride-dependent betaine transporter	Transporter that mediates cellular uptake of betaine and GABA in a sodium- and chloride-dependent process.
SLC6A13	Sodium- and chloride-dependent GABA transporter 2	Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA).
SLC7A10	Asc-type amino acid transporter 1	Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane.
SLC8A1	Sodium/calcium exchanger 1	Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes.
ZFP36L1	mRNA decay activator protein ZFP36L1	Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthes…
SLC9A2	Sodium/hydrogen exchanger 2	Plasma membrane Na(+)/H(+) antiporter.

Protein-family classification

Druggable: 14 · Difficult: 16 · Unknown: 45 · Druggable fraction: 0.19

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transporter	5	5.2×	0.028
Nuclear receptor	2	10.3×	0.081
Transcription factor	13	1.4×	0.386
Other/Unknown	45	1.1×	0.676
Ion channel	1	1.5×	0.984
Scaffold/PPI	3	0.7×	0.989
GPCR	2	0.6×	0.989
Protease	1	0.5×	0.989
Antibody/Immunoglobulin	1	0.4×	0.989
Enzyme (other)	2	0.3×	0.989

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CARD11	Scaffold/PPI	no		CARD, DEATH-like_dom_sf, P-loop_NTPase
BCL6	Transcription factor	no		BTB/POZ_dom, SKP1/BTB/POZ_sf, Znf_C2H2_type
RHO	GPCR	yes		GPCR_Rhodpsn, Rhodopsin, Opsin
RING1	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS
RNF14	Transcription factor	no		Znf_RING, IBR_dom, RWD_dom
RNF5	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS
BCR	Scaffold/PPI	no		C2_dom, RhoGAP_dom, DH_dom
SNORD21	Other/Unknown	no
SNORD48	Other/Unknown	no
SNORD52	Other/Unknown	no
SNORA66	Other/Unknown	no
RORA	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
RORC	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
RPL19	Other/Unknown	no		Ribosomal_eL19_dom, Ribosomal_eL19_dom1, Ribosomal_eL19_CS
RPL41	Other/Unknown	no		Ribosomal_eS32
RPL41P2	Other/Unknown	no
RPL5	Other/Unknown	no		Rbsml_uL18_euk_arc, Ribosomal_uL18_C_euk, Ribosomal_L18
CFB	Protease	yes	3.4.21.47	Sushi_SCR_CCP_dom, Trypsin_dom, Peptidase_S1A
RPS26	Other/Unknown	no		Ribosomal_eS26, Ribosomal_eS26_sf, Ribosomal_eS26_CS
RUNX1	Transcription factor	no		AML1_Runt, p53-like_TF_DNA-bd_sf, p53/RUNT-type_TF_DNA-bd_sf
RUNX3	Transcription factor	no		AML1_Runt, p53-like_TF_DNA-bd_sf, p53/RUNT-type_TF_DNA-bd_sf
RYBP	Transcription factor	no		Znf_RanBP2, YAF2_RYBP, Znf_RanBP2_sf
RYR1	Ion channel	yes		RIH_dom, B30.2/SPRY, Ryanodine_rcpt
S100A10	Other/Unknown	no		S100/CaBP7/8-like_CS, EF-hand-dom_pair, S100_Ca-bd_sub
S100A11	Other/Unknown	no		S100/CaBP7/8-like_CS, EF_hand_dom, EF-hand-dom_pair
S100A12	Other/Unknown	no		S100/CaBP7/8-like_CS, EF_hand_dom, EF-hand-dom_pair
S100A8	Other/Unknown	no		S100/CaBP7/8-like_CS, EF_hand_dom, EF-hand-dom_pair
S100A9	Other/Unknown	no		S100/CaBP7/8-like_CS, EF_hand_dom, EF-hand-dom_pair
BID	Other/Unknown	no		BID, Bcl2_BH3_motif_CS, Bcl-2-like_sf
SARDH	Other/Unknown	no		FAD-dep_OxRdtase, GCVT_N, GcvT_C
ATXN2	Other/Unknown	no		LsmAD_domain, PAM2_motif, LSM_dom_sf
CXCR5	GPCR	yes		GPCR_Rhodpsn, Chemokine_CXCR5, GPCR_Rhodpsn_7TM
CCL20	Other/Unknown	no		Chemokine_CC_CS, Chemokine_IL8-like_dom, Chemokine_CC_DCCL
CCL22	Other/Unknown	no		Chemokine_CC_CS, Chemokine_IL8-like_dom, Interleukin_8-like_sf
SEMG2	Other/Unknown	no		Semenogelin
SGCG	Other/Unknown	no		Sarcoglycan, Sarcoglycan_gamma/delta/zeta
SHMT2	Enzyme (other)	yes	2.1.2.1	Ser_HO-MeTrfase, PyrdxlP-dep_Trfase_major, PyrdxlP-dep_Trfase_small
PMEL	Antibody/Immunoglobulin	yes		PKD_dom, Ig-like_fold, PKD/Chitinase_dom
SIM2	Transcription factor	no		PAS, PAC, SIM_C
SIPA1	Scaffold/PPI	no		Rap/Ran_GAP_dom, PDZ, Rap/Ran-GAP_sf
SKIC2	Other/Unknown	no		Helicase_C-like, DEAD/DEAH_box_helicase_dom, Ski2/MTR4_C
SLCO1A2	Transporter	yes		Kazal_dom, OATP, MFS_dom
SLCO1B1	Transporter	yes		Kazal_dom, OATP, MFS_dom
SLC22A4	Transporter	yes		Orgcat_transp/SVOP, MFS_sugar_transport-like, Sugar_transporter_CS
SLC22A5	Transporter	yes		Orgcat_transp/SVOP, MFS_sugar_transport-like, Sugar_transporter_CS
SLC24A2	Other/Unknown	no		K/Na/Ca-exchanger, NaCa_Exmemb, NCX_ion-bd_dom_sf
BRAP	Transcription factor	no		Znf_UBP, Znf_RING, BRAP2/ETP1_RRM
SLC34A1	Other/Unknown	no		Na/Pi_transpt
BRD2	Other/Unknown	no		Bromodomain, Bromodomain_CS, NET_dom
SLC6A12	Other/Unknown	no		Na/ntran_symport, Na/ntran_symport_betaine, SNS_sf

Expression context

Cohort genes with no expression data: 0.

65 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	1
broad (>20)	74
unknown	0

Top tissues across cohort

Tissue	Cohort genes
lower esophagus mucosa	12
granulocyte	9
ganglionic eminence	6
liver	6
male germ line stem cell (sensu Vertebrata) in testis	6
right lobe of liver	6
buccal mucosa cell	5
gastrocnemius	4
adrenal tissue	4
endothelial cell	4
cortical plate	4
sural nerve	4
monocyte	4
ventricular zone	4
lymph node	3
spleen	3
vermiform appendix	3
calcaneal tendon	3
primordial germ cell in gonad	3
mucosa of transverse colon	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CARD11	188	broad	marker	granulocyte, lymph node, spleen
BCL6	300	ubiquitous	marker	gastrocnemius, mucosa of stomach, blood
RHO	38	tissue_specific	marker	optic choroid, neuron projection bundle connecting eye with brain, diaphragm
RING1	133	ubiquitous	marker	pituitary gland, adenohypophysis, right lobe of thyroid gland
RNF14	289	ubiquitous	marker	adrenal tissue, endothelial cell, oocyte
RNF5	134	ubiquitous	marker	ganglionic eminence, adult mammalian kidney, cortical plate
BCR	275	ubiquitous	marker	nucleus accumbens, caudate nucleus, putamen
SNORD21	59		yes	sural nerve, liver, adrenal tissue
SNORD48	74	tissue_specific	yes	sural nerve, vermiform appendix, liver
SNORD52	8	tissue_specific	yes	sural nerve, Brodmann (1909) area 9, liver
SNORA66	121		yes	sural nerve, lower esophagus mucosa, adrenal tissue
RORA	284	ubiquitous	marker	upper leg skin, lateral nuclear group of thalamus, skin of hip
RORC	209	broad	marker	gastrocnemius, male germ line stem cell (sensu Vertebrata) in testis, hindlimb stylopod muscle
RPL19	301	ubiquitous	marker	primordial germ cell in gonad, calcaneal tendon, granulocyte
RPL41	134	ubiquitous	marker	ovary, right ovary, left ovary
RPL41P2	133	broad	marker	bone marrow cell, vermiform appendix, duodenum
RPL5	292	ubiquitous	marker	germinal epithelium of ovary, primordial germ cell in gonad, parietal pleura
CFB	134	broad	marker	right lobe of liver, liver, gall bladder
RPS26	140	ubiquitous	marker	granulocyte, left adrenal gland cortex, mucosa of transverse colon
RUNX1	253	ubiquitous	marker	olfactory segment of nasal mucosa, epithelium of bronchus, mucosa of paranasal sinus
RUNX3	220	broad	marker	granulocyte, buccal mucosa cell, lymph node
RYBP	292	tissue_specific	marker	lower lobe of lung, cartilage tissue, endothelial cell
RYR1	214	broad	marker	gluteal muscle, gastrocnemius, hindlimb stylopod muscle
S100A10	295	ubiquitous	marker	mucosa of sigmoid colon, colonic mucosa, dorsal root ganglion
S100A11	292	ubiquitous	marker	lower esophagus mucosa, esophagus mucosa, olfactory segment of nasal mucosa
S100A12	212	broad	marker	trabecular bone tissue, monocyte, bone marrow
S100A8	274	broad	marker	pharyngeal mucosa, monocyte, mononuclear cell
S100A9	244	broad	marker	granulocyte, monocyte, leukocyte
BID	253	ubiquitous	marker	monocyte, leukocyte, mononuclear cell
SARDH	173	broad	marker	right lobe of liver, buccal mucosa cell, liver

Protein interactions among cohort

Intra-cohort edges: 48.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RPL5	6,028
SHMT2	5,293
RUNX1	4,994
SMARCA2	4,237
BCL6	3,984
S100A9	3,907
SMARCC2	3,686
CARD11	3,587
RHO	3,578
S100A8	3,432

Intra-cohort edges

A	B	Sources
BCL6	CXCR5	string_interaction
BRD2	RUNX3	intact
RHO	SLC24A2	string_interaction
RING1	RYBP	biogrid_interaction, intact, string_interaction
RPL5	RPS26	biogrid_interaction
RUNX1	RUNX3	string_interaction
RUNX1	SLC22A4	string_interaction
S100A10	SLC8A1	intact
S100A11	SLC8A1	intact
S100A12	S100A8	string_interaction
S100A12	SLC8A1	intact
S100A8	S100A9	biogrid_interaction, intact, string_interaction
S100A8	SLC8A1	intact
S100A9	SLC8A1	intact
S100A9	SPRR2E	biogrid_interaction
SARDH	SHMT2	string_interaction
SHMT2	SNORA66	biogrid_interaction
SHMT2	SNORD21	biogrid_interaction
SLC22A4	SLC22A5	intact
SLC22A4	SLCO1A2	string_interaction
SLC22A5	SLCO1A2	string_interaction
SMARCA2	SMARCC2	intact, string_interaction
SMARCA2	SMARCE1	intact, string_interaction
SMARCC2	SMARCE1	intact, string_interaction
SPRR1A	SPRR2A	string_interaction
SPRR1A	SPRR2D	string_interaction
SPRR1A	SPRR2E	string_interaction
SPRR1A	SPRR2F	string_interaction
SPRR1A	SPRR2G	string_interaction
SPRR1B	SPRR2A	string_interaction
SPRR1B	SPRR2D	string_interaction
SPRR1B	SPRR2E	string_interaction
SPRR1B	SPRR2F	string_interaction
SPRR1B	SPRR2G	string_interaction
SPRR2A	SPRR2D	string_interaction
SPRR2A	SPRR2E	string_interaction
SPRR2A	SPRR2F	string_interaction
SPRR2A	SPRR3	string_interaction
SPRR2D	SPRR2E	string_interaction
SPRR2D	SPRR2F	string_interaction
SPRR2D	SPRR2G	string_interaction
SPRR2D	SPRR3	string_interaction
SPRR2E	SPRR2F	string_interaction
SPRR2E	SPRR2G	string_interaction
SPRR2E	SPRR3	string_interaction
SPRR2F	SPRR2G	string_interaction
SPRR2F	SPRR3	string_interaction
SPRR2G	SPRR3	string_interaction

Structural data

PDB: 38 · AlphaFold-only: 29 · No structure: 8

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BCL6	P41182	246
RPL19	P84098	190
RPS26	P62854	190
RPL41	P62945	185
RPL5	P46777	184
BRD2	P25440	174
RORC	P51449	161
SNRPB2	P08579	50
SMARCA2	P51531	32
SHMT2	P34897	27
CFB	P00751	26
PMEL	P40967	20
BID	P55957	17
S100A8	P05109	13
S100A9	P06702	13
SKIC2	Q15477	11
S100A12	P80511	9
SLCO1B1	Q9Y6L6	9
SMARCC2	Q8TAQ2	9
SMARCE1	Q969G3	8
S100A10	P60903	7
CCL20	P78556	6
BCR	P11274	5
RUNX1	Q01196	5
RYBP	Q8N488	5
SLC8A1	P32418	5
RHO	P08100	4
SLC7A10	Q9NS82	4
SMPD1	P17405	4
RORA	P35398	3

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SARDH	Q9UL12	93.03
SLC6A13	Q9NSD5	89.18
CCL22	O00626	88.21
SLC22A4	Q9H015	85.07
RNF14	Q9UBS8	83.00
CXCR5	P32302	80.85
SGCG	Q13326	80.24
SLCO1A2	P46721	79.97
SPRR2B	P35325	78.45
SPRR2G	Q9BYE4	77.94
SPRR2E	P22531	77.66
SPRR2D	P22532	77.37
SPRR2A	P35326	77.32
BRAP	Q7Z569	76.92
SPRR2F	Q96RM1	75.55
RING1	Q06587	72.69
SLC34A1	Q06495	72.24
SIPA1	Q96FS4	72.20
SPRR1B	P22528	70.02
SPRR1A	P35321	69.36
RNF5	Q99942	68.71
SLC24A2	Q9UI40	67.75
SLC9A4	Q6AI14	66.73
SLC9A2	Q9UBY0	66.40
SIM2	Q14190	63.05
SOX1	O00570	59.29
SPRR3	Q9UBC9	52.87
SP2	Q02086	45.39
SEMG2	Q02383	30.69

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 604. Enrichment computed across 250 evidence-associated genes (169 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 169 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
TNFs bind their physiological receptors	8	18.6×	4e-06	TNFRSF1B, TNFRSF6B, TNFRSF8, TNFSF15, TNFSF18, TNFSF4, FASLG, CD70
Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)	4	20.8×	0.004	RUNX1, RUNX3, TBX21, TNF
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	6	10.7×	0.004	RING1, RUNX1, RYBP, SMARCA2, SMARCC2, SMARCE1
Formation of the cornified envelope	10	5.2×	0.004	SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G (+2 more)
SLC-mediated transmembrane transport	12	4.2×	0.004	RUNX1, SLCO1A2, SLCO1B1, SLC22A4, SLC22A5, SLC24A2, SLC6A12, SLC6A13 (+4 more)
Interleukin-4 and Interleukin-13 signaling	9	5.5×	0.004	BCL6, RORA, RORC, CCL22, STAT6, TNF, TNFRSF1B, FASLG (+1 more)
Transport of small molecules	18	2.7×	0.011	RNF5, RUNX1, RYR1, SLCO1A2, SLCO1B1, SLC22A4, SLC22A5, SLC24A2 (+10 more)
Activation of C3 and C5	3	22.5×	0.019	CFB, C2, C4A
RUNX3 regulates p14-ARF	3	20.3×	0.021	RUNX1, RUNX3, BRD2
TNFR2 non-canonical NF-kB pathway	6	6.4×	0.021	TNF, TNFRSF11A, TNFRSF1B, FASLG, CD70, TRAF3
RUNX3 regulates RUNX1-mediated transcription	2	45.0×	0.036	RUNX1, RUNX3
Regulation of TNFR1 signaling	5	6.6×	0.046	TAX1BP1, TNF, TNFAIP3, TRAF1, UBE2D3
Reuptake of GABA	2	33.8×	0.052	SLC6A12, SLC6A13
SLC-mediated transport of organic cations	3	13.5×	0.052	RUNX1, SLC22A4, SLC22A5
R-HSA-549132	3	13.5×	0.052	RUNX1, SLC22A4, SLC22A5
Negative regulators of DDX58/IFIH1 signaling	4	7.7×	0.064	TAX1BP1, TNFAIP3, TRAF3, UBE2D3
R-HSA-425393	6	4.6×	0.068	SLC24A2, SLC6A12, SLC7A10, SLC8A1, SLC9A2, SLC9A4
Formation of the polybromo-BAF (pBAF) complex	3	11.3×	0.074	SMARCA2, SMARCC2, SMARCE1
R-HSA-425366	5	5.4×	0.075	RUNX1, SLC22A4, SLC22A5, SLC6A12, SLC6A13
MyD88 deficiency (TLR2/4)	3	10.7×	0.078	S100A8, S100A9, TLR1
Tachykinin receptors bind tachykinins	2	22.5×	0.079	TAC3, TACR1
RUNX3 Regulates Immune Response and Cell Migration	2	22.5×	0.079	RORC, RUNX3
IRAK4 deficiency (TLR2/4)	3	10.1×	0.079	S100A8, S100A9, TLR1
Developmental Biology	22	1.9×	0.079	RPL41, RPS26, RUNX1, SMARCA2, SMARCC2, SMARCE1, SOX1, SPRR1A (+14 more)
Transcriptional regulation by RUNX3	4	6.4×	0.080	RUNX1, RUNX3, BRD2, TEAD1
Keratinization	9	3.0×	0.080	SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G (+1 more)
Regulation of MITF-M-dependent genes involved in pigmentation	4	6.3×	0.082	PMEL, SMARCA2, SMARCC2, SMARCE1
Metal sequestration by antimicrobial proteins	2	19.3×	0.094	S100A8, S100A9
Regulation of TLR by endogenous ligand	3	8.8×	0.094	S100A8, S100A9, TLR1
Choline catabolism	2	16.9×	0.099	SARDH, SLC22A4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 221 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of transcription by RNA polymerase II	44	2.3×	1e-04	RNF14, RORA, RORC, RUNX1, RUNX3, SIM2, BRD2, SMARCA2 (+36 more)
tumor necrosis factor-mediated signaling pathway	8	12.0×	2e-04	TMSB4X, TNF, TNFRSF11A, TNFRSF1B, TNFSF18, CD70, TRAF1, TRAF3
epidermis development	8	7.6×	0.005	SPRR1A, SPRR1B, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3
positive regulation of inflammatory response	9	5.9×	0.008	S100A12, S100A8, S100A9, STAT5B, TNF, TNFSF18, TNFSF4, CCN4 (+1 more)
keratinocyte differentiation	7	7.8×	0.009	BCR, SPRR1A, SPRR1B, SPRR2B, SPRR2F, SPRR2G, SPRR3
regulation of T cell proliferation	4	19.1×	0.010	BCL6, BID, TNFRSF1B, TNFSF18
keratinization	7	7.4×	0.010	SPRR1B, SPRR2B, SPRR2D, SPRR2F, SPRR2G, SPRR3, TCHH
regulation of steroid metabolic process	3	32.7×	0.014	RORA, RORC, STAT5B
negative regulation of transcription by RNA polymerase II	27	2.2×	0.021	BCL6, RORC, RUNX1, RUNX3, RYBP, SIM2, SMARCA2, SOX1 (+19 more)
regulation of endothelial cell apoptotic process	2	76.2×	0.025	TEK, TNF
regulation of cytokine production	6	6.7×	0.035	BCL6, BTN3A2, BTNL2, TRAF3, UBASH3A, CCN4
inflammatory response	16	2.7×	0.035	BCL6, S100A12, S100A8, S100A9, CCL20, CCL22, TACR1, TBXA2R (+8 more)
female courtship behavior	2	50.8×	0.042	THRA, THRB
isotype switching to IgE isotypes	2	50.8×	0.042	BCL6, STAT6
neutrophil aggregation	2	50.8×	0.042	S100A8, S100A9
sodium ion import across plasma membrane	4	11.3×	0.042	SLC34A1, SLC8A1, SLC9A2, SLC9A4
osteoclast differentiation	5	7.8×	0.042	TFRC, TNF, TNFRSF11A, TOB2, CCN4
ossification	6	6.2×	0.042	RUNX1, RUNX3, SLC34A1, THRA, TNFRSF11A, TWIST1
regulation of B cell differentiation	3	17.6×	0.045	CARD11, ZFP36L1, IKZF3
thyroid hormone receptor signaling pathway	2	38.1×	0.052	THRA, THRB
positive regulation of thyroid hormone receptor signaling pathway	2	38.1×	0.052	THRA, THRB
T-helper 1 cell lineage commitment	2	38.1×	0.052	STAT6, TBX21
tolerance induction in gut-associated lymphoid tissue	2	38.1×	0.052	RORC, ZBTB16
citrate metabolic process	2	38.1×	0.052	ACO1, ACO2
carnitine transport	2	38.1×	0.052	SLC22A4, SLC22A5
negative regulation of CD4-positive, alpha-beta T cell differentiation	2	38.1×	0.052	RUNX1, RUNX3
gamma-aminobutyric acid reuptake	2	38.1×	0.052	SLC6A12, SLC6A13
obsolete positive regulation of NF-kappaB transcription factor activity	6	5.6×	0.052	CARD11, S100A12, TNF, TNFSF18, TRAF1, CRNN
positive regulation of DNA-templated transcription	18	2.3×	0.052	RNF14, RORA, RORC, RUNX1, RUNX3, RYBP, SMARCA2, SMARCC2 (+10 more)
positive regulation of blood pressure	3	14.3×	0.054	TAC3, TACR1, TBXA2R

Therapeutics

Drugs indicated for this disease

27 approved, 41 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Beclomethasone Dipropionate	Approved (phase 4)
Benralizumab	Approved (phase 4)
Betamethasone Acetate	Approved (phase 4)
Budesonide	Approved (phase 4)
Ciclesonide	Approved (phase 4)
Cortisone Acetate	Approved (phase 4)
Dexamethasone	Approved (phase 4)
Dupilumab	Approved (phase 4)
Epinephrine	Approved (phase 4)
Flunisolide	Approved (phase 4)
Fluticasone Furoate	Approved (phase 4)
Fluticasone Propionate	Approved (phase 4)
Hydrocortisone	Approved (phase 4)
Menthol	Approved (phase 4)
Mepolizumab	Approved (phase 4)
Methylprednisolone	Approved (phase 4)
Methylprednisolone Acetate	Approved (phase 4)
Mometasone Furoate	Approved (phase 4)
Montelukast	Approved (phase 4)
Omalizumab	Approved (phase 4)
Prednisolone	Approved (phase 4)
Prednisone	Approved (phase 4)
Reslizumab	Approved (phase 4)
Tezepelumab	Approved (phase 4)
Triamcinolone Acetonide	Approved (phase 4)
Zafirlukast	Approved (phase 4)
Zileuton	Approved (phase 4)
Aspirin	Phase 3 (in late-stage trials)
Azithromycin	Phase 3 (in late-stage trials)
Biotin	Phase 3 (in late-stage trials)
Cholecalciferol	Phase 3 (in late-stage trials)
Clarithromycin	Phase 3 (in late-stage trials)
Colchicine	Phase 3 (in late-stage trials)
Depemokimab	Phase 3 (in late-stage trials)
Doxofylline	Phase 3 (in late-stage trials)
Ergocalciferol	Phase 3 (in late-stage trials)
Fenoterol	Phase 3 (in late-stage trials)
Fevipiprant	Phase 3 (in late-stage trials)
Fexofenadine	Phase 3 (in late-stage trials)
Fish Oil	Phase 3 (in late-stage trials)
Fluticasone	Phase 3 (in late-stage trials)
Formoterol	Phase 3 (in late-stage trials)
Glycopyrronium	Phase 3 (in late-stage trials)
Human Immunoglobulin G	Phase 3 (in late-stage trials)
Icosapent	Phase 3 (in late-stage trials)
Indacaterol	Phase 3 (in late-stage trials)
Influenza Virus Vaccine	Phase 3 (in late-stage trials)
Lactose, Anhydrous	Phase 3 (in late-stage trials)
Lebrikizumab	Phase 3 (in late-stage trials)
Levocarnitine	Phase 3 (in late-stage trials)
Levocetirizine	Phase 3 (in late-stage trials)
Levosalbutamol	Phase 3 (in late-stage trials)
Loratadine	Phase 3 (in late-stage trials)
Magnesium Sulfate Anhydrous	Phase 3 (in late-stage trials)
Masitinib	Phase 3 (in late-stage trials)
Methacholine	Phase 3 (in late-stage trials)
Methotrexate	Phase 3 (in late-stage trials)
Nedocromil	Phase 3 (in late-stage trials)
Procaterol	Phase 3 (in late-stage trials)
Roflumilast	Phase 3 (in late-stage trials)
Salmeterol	Phase 3 (in late-stage trials)
Simvastatin	Phase 3 (in late-stage trials)
Telithromycin	Phase 3 (in late-stage trials)
Terbutaline	Phase 3 (in late-stage trials)
Timapiprant	Phase 3 (in late-stage trials)
Tiotropium	Phase 3 (in late-stage trials)
Tralokinumab	Phase 3 (in late-stage trials)
Vilanterol	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Adalimumab, Alanine, Alendronic Acid, Ambrisentan, Amlitelimab, Amoxicillin, Antipyrine, Arformoterol, Arginine, Astegolimab, Atorvastatin, Benzocaine, Bosentan, Brodalumab, Clavulanic Acid, Clazakizumab, Clopidogrel, Curcumin, Daclizumab, Dexpramipexole, Doconexent, Dornase Alfa, Duvelisib, Ensifentrine, Esomeprazole, Etanercept, Fiboflapon, Fingolimod, Gefapixant, Glycine, Golimumab, INTERFERON BETA-1A, Itepekimab, L-Citrulline, Lenzilumab, Ligelizumab, Minocycline, Nadolol, Olodaterol, Palifermin, Pemirolast, Pioglitazone, Povorcitinib, Prasugrel, Propranolol, Ramatroban, Rilzabrutinib, Risankizumab, Rosiglitazone, Secukinumab, Semaglutide, Senicapoc, Setipiprant, Sirukumab, Sitaxentan, Sodium Chloride, Stapokibart, Tacrolimus Anhydrous, Terfenadine, Tozorakimab, Umeclidinium.

Drug target analysis

Approved (phase 4): 15 · Phase ≥3: 16 · Phased (≥1): 23 · Undrugged: 52

Druggability breadth: 97 of 250 evidence-associated genes (39%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
BCR	PONATINIB
RORA	TRETINOIN
RORC	DIGOXIN
RPL19	GENTAMICIN SULFATE
RPL41	GENTAMICIN SULFATE
RPL5	GENTAMICIN SULFATE
CFB	IPTACOPAN
RPS26	GENTAMICIN SULFATE
RUNX1	APOMORPHINE HYDROCHLORIDE
BID	VENETOCLAX
SHMT2	OXAPROZIN
SLCO1A2	RIFAMPIN
SLCO1B1	CANDESARTAN CILEXETIL
SLC34A1	SODIUM PHOSPHATE, DIBASIC, ANHYDROUS
SMPD1	IMIPRAMINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BCR	64	4
SLCO1B1	57	4
RORC	9	4
BRD2	9	3
SHMT2	7	4
BID	4	4
SLC9A2	3	2
SMPD1	3	4
BCL6	2	2
RORA	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PONATINIB	4	BCR
DASATINIB ANHYDROUS	4	BCR
IMATINIB MESYLATE	4	BCR
INFIGRATINIB	4	BCR
NILOTINIB	4	BCR
BOSUTINIB	4	BCR
ASCIMINIB	4	BCR
DASATINIB	4	BCR
TIRBANIBULIN	4	BCR
IMATINIB	4	BCR
FEDRATINIB	4	BCR
TIVOZANIB	4	BCR
LENVATINIB	4	BCR
AXITINIB	4	BCR
IBRUTINIB	4	BCR
REGORAFENIB	4	BCR
CABOZANTINIB	4	BCR
VANDETANIB	4	BCR
TOVORAFENIB	4	BCR
NINTEDANIB	4	BCR
ERLOTINIB	4	BCR, SLCO1B1
CRIZOTINIB	4	BCR
TRETINOIN	4	RORA, RORC
DIGOXIN	4	RORC, SLCO1B1
ALITRETINOIN	4	RORC
GENTAMICIN SULFATE	4	RPL19, RPL41, RPL5, RPS26
IPTACOPAN	4	CFB
APOMORPHINE HYDROCHLORIDE	4	RUNX1
VENETOCLAX	4	BID
OXAPROZIN	4	SHMT2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
RORC	758	Binding:707, Functional:50, Unclassified:1
BRD2	681	Binding:655, Functional:19, ADMET:7
BCR	486	Binding:478, Functional:6, Toxicity:2
SMARCA2	311	Binding:274, Functional:25, ADMET:12
SLCO1B1	242	Functional:106, ADMET:82, Binding:53, Toxicity:1
BCL6	209	Binding:202, Functional:7
RORA	115	Binding:111, Functional:3, Unclassified:1
SLC22A5	97	Functional:79, ADMET:18
RPL19	90	Binding:90
RPL5	90	Binding:90
RPL41	89	Binding:89
RPS26	89	Binding:89
SLCO1A2	70	Functional:60, ADMET:9, Binding:1
SLC6A12	50	Binding:48, Functional:2
BID	44	Binding:44
SMPD1	42	Binding:40, Functional:2
CFB	33	Binding:33
CXCR5	33	Binding:21, Functional:12
SLC22A4	29	Functional:26, ADMET:3
RUNX1	20	Binding:17, Functional:3
RYR1	16	Binding:13, Functional:3
SLC6A13	15	Binding:15
S100A10	12	Binding:12
S100A9	10	Binding:10
SLC9A2	10	Binding:8, Functional:2
SLC8A1	9	Binding:8, Functional:1
SLC34A1	8	Binding:7, Functional:1
SMARCC2	7	Binding:7
SMARCE1	7	Binding:7
SNRPB2	7	Binding:7
S100A8	6	Binding:6
SHMT2	6	Binding:6
ATXN2	5	Binding:3, Functional:2
RNF5	2	Binding:2
BRAP	2	Binding:2
RHO	1	Binding:1
RING1	1	Binding:1
RYBP	1	Binding:1
S100A11	1	Binding:1
CCL22	1	Binding:1
SLC24A2	1	Functional:1
SPRR3	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CFB	3.4.21.47	alternative-complement-pathway C3/C5 convertase
SHMT2	2.1.2.1	glycine hydroxymethyltransferase
SMPD1	3.1.4.12	sphingomyelin phosphodiesterase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
BCL6	209
BCR	486
RORA	115
RORC	758
SLCO1B1	242
BRD2	681
SMARCA2	311

Pharmacogenomics

Cohort genes with a PharmGKB record: 75; with CPIC/DPWG dosing guidelines: 2.

Cohort genes with a CPIC/DPWG dosing guideline

Symbol	CPIC guidelines
RYR1	1
SLCO1B1	1

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
PONATINIB	4	BCR
DASATINIB ANHYDROUS	4	BCR
IMATINIB MESYLATE	4	BCR
INFIGRATINIB	4	BCR
NILOTINIB	4	BCR
BOSUTINIB	4	BCR
ASCIMINIB	4	BCR
DASATINIB	4	BCR
TIRBANIBULIN	4	BCR
IMATINIB	4	BCR
FEDRATINIB	4	BCR
TIVOZANIB	4	BCR
LENVATINIB	4	BCR
AXITINIB	4	BCR
IBRUTINIB	4	BCR
REGORAFENIB	4	BCR
CABOZANTINIB	4	BCR
VANDETANIB	4	BCR
TOVORAFENIB	4	BCR
NINTEDANIB	4	BCR
ERLOTINIB	4	BCR, SLCO1B1
CRIZOTINIB	4	BCR
TRETINOIN	4	RORA, RORC
DIGOXIN	4	RORC, SLCO1B1
ALITRETINOIN	4	RORC
GENTAMICIN SULFATE	4	RPL19, RPL41, RPL5, RPS26
IPTACOPAN	4	CFB
APOMORPHINE HYDROCHLORIDE	4	RUNX1
VENETOCLAX	4	BID
OXAPROZIN	4	SHMT2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	15	BCR, RORA, RORC, RPL19, RPL41, RPL5, CFB, RPS26, RUNX1, BID (+5 more)
B	Phased (≥1) drug, not yet approved	8	BCL6, S100A8, BRD2, SLC6A12, SLC6A13, SLC9A2, SMARCA2, SNRPB2
C	Druggable family + PDB, no drug	5	RHO, RYR1, PMEL, SLC22A5, SLC7A10
D	Druggable family + AlphaFold only, no drug	2	CXCR5, SLC22A4
E	Difficult family or no structure, no drug	45	CARD11, RING1, RNF14, RNF5, SNORD21, SNORD48, SNORD52, SNORA66, RPL41P2, RUNX3 (+35 more)

Undrugged target profiles

52 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
S100A9	10	S100A8
SLC22A4	29	RUNX1
CARD11	0	—
RHO	1	—
RING1	1	—
RNF14	0	—
RNF5	2	—
SNORD21	0	—
SNORD48	0	—
SNORD52	0	—
SNORA66	0	—
RPL41P2	0	—
RUNX3	0	—
RYBP	1	—
RYR1	16	—
S100A10	12	—
S100A11	1	—
S100A12	0	—
SARDH	0	—
ATXN2	5	—
CXCR5	33	—
CCL20	0	—
CCL22	1	—
SEMG2	0	—
SGCG	0	—
PMEL	0	—
SIM2	0	—
SIPA1	0	—
SKIC2	0	—
SLC22A5	97	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3,826.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	490
PHASE4	374
PHASE2	185
PHASE2/PHASE3	35
PHASE1/PHASE2	16

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01225913	PHASE4	RECRUITING	Mechanism(s) of Airflow Limitation During Exacerbation of Asthma
NCT03105843	PHASE4	RECRUITING	Sensory-Mechanical Responses to Eucapneic Voluntary Hyperventilation and Mannitol
NCT03694158	PHASE4	ACTIVE_NOT_RECRUITING	Investigating Dupilumab’s Effect in Asthma by Genotype
NCT03889743	PHASE4	RECRUITING	Innovative Steroid Treatment to Reduce Asthma Development in Children After First-time Rhinovirus Induced Wheezing
NCT03953300	PHASE4	ACTIVE_NOT_RECRUITING	Benralizumab Airway Remodeling Study in Severe Eosinophilic Asthmatics
NCT04380038	PHASE4	RECRUITING	Viral Infection in Asthma (VIA) Study
NCT04565483	PHASE4	RECRUITING	Predictive Signature of Benralizumab Response
NCT04743791	PHASE4	RECRUITING	Measuring the Effect of Dupilumab Treatment on Mucociliary Clearance (MCC) in Subjects With Moderate to Severe Asthma
NCT04763447	PHASE4	RECRUITING	Short Treatment with Omalizumab for Severe Asthma
NCT05097287	PHASE4	ACTIVE_NOT_RECRUITING	Study Assessing the Long-term Effect of Dupilumab on Prevention of Lung Function Decline in Adult Patients With Uncontrolled Moderate to Severe Asthma
NCT05598814	PHASE4	ACTIVE_NOT_RECRUITING	Mepolizumab to CRSwNP Through 12 Months - Randomised to FESS and Non-FESS Within the First 2 Weeks
NCT05626777	PHASE4	ACTIVE_NOT_RECRUITING	Symptoms Control and adhErenCe Assessment During Treatment With MepolizUmab New pREfilled Devices
NCT06041386	PHASE4	ACTIVE_NOT_RECRUITING	REIMAGINE - Real World EvaluatIon of Mepolizumab in Severe Asthma achievinG on Treatment clinIcal remissioN, a prospEctive Study
NCT06152653	PHASE4	RECRUITING	The Effects of Positive Airway Pressure on the Mucolytic Effects of NAC (TEAM)
NCT06372496	PHASE4	ACTIVE_NOT_RECRUITING	Pragmatic Open - Label Randomized Clinical Trial of FF/UMEC/VI vs Non-ellipta Usual Care ICS-LABA for Adult Participants With Uncontrolled Asthma
NCT06422689	PHASE4	ACTIVE_NOT_RECRUITING	Combination Short-Acting BroNchodilator and Inhaled Corticosteroid Rescue Therapy on Health Outcomes in Routine Care
NCT06556264	PHASE4	NOT_YET_RECRUITING	Immunologic Impact of Dupilumab in Patients Suffering From Asthma and Chronic Rhinosinusitis With Polyps
NCT06572228	PHASE4	ACTIVE_NOT_RECRUITING	Efficacy of Dupilumab Added to Medium Dose Inhaled Corticosteroid/Long-acting Beta-agonist (ICS/LABA) in Comparison to ICS Dose Escalation to High Dose ICS/LABA in Adolescent and Adult Patients With Uncontrolled Asthma
NCT06705764	PHASE4	NOT_YET_RECRUITING	Tezepelumab in the Treatment of Emergency Room Asthma in Adults (TERAA)
NCT06818019	PHASE4	NOT_YET_RECRUITING	Withdrawal of Dupilumab in Severe Asthma
NCT06970080	PHASE4	RECRUITING	Therapeutic Relevance of Abnormal Airway Morphology in Asthma
NCT07052942	PHASE4	RECRUITING	Individualizing Treatment for Asthma in Primary Care (Full Study)
NCT07166939	PHASE4	RECRUITING	45th Multicenter Airway Research Collaboration
NCT07228052	PHASE4	NOT_YET_RECRUITING	Giving Asthmatics Intramuscular Steroids for Preventing Return to the Emergency Department
NCT07343661	PHASE4	ENROLLING_BY_INVITATION	Beyond EOsinophils: proteoMICS to Identify Potential Biomarker of Organ Damage and Response to MEPOLIZUMAB in EGPA
NCT07426458	PHASE4	RECRUITING	Ventilation and Perfusion in Asthmatics
NCT00070707	PHASE4	COMPLETED	Nasonex Compared With Placebo in Participants With Seasonal Allergic Rhinitis (SAR) and Concomitant Asthma (P03280)
NCT00071552	PHASE4	TERMINATED	Efficacy of QVAR vs Flovent Diskus on Small Airways in Poorly Controlled Asthmatic Adolescents/Adult Patients
NCT00096954	PHASE4	COMPLETED	A Prospective, Randomized, Double-Blind Study of the Efficacy of Omalizumab (Xolair) in Atopic Asthmatics With Good Lung Capacity Who Remain Difficult to Treat (EXACT)
NCT00102765	PHASE4	COMPLETED	Study Of Asthma In Patients Of African Descent
NCT00102882	PHASE4	COMPLETED	Study Of Asthma And Genetics In Patients To Be Treated With Fluticasone Propionate/Salmeterol Or Salmeterol Xinafoate
NCT00124176	PHASE4	COMPLETED	Continuous Levalbuterol for Treatment of Status Asthmaticus in Children
NCT00133042	PHASE4	COMPLETED	The Effect of Omalizumab on Airway Responsiveness to Adenosine in Patients With Poorly Controlled Asthma
NCT00140881	PHASE4	COMPLETED	A Study to Determine the Effect of Montelukast Sodium as an Episode Modifier in the Treatment of Infrequent Episodic Asthma in Children (0476-165)
NCT00140946	PHASE4	COMPLETED	A Study to Assess the Effect of Montelukast Sodium With Concomitant Administration of Inhaled Budesonide in Asthmatic Patients (0476-075)
NCT00148408	PHASE4	COMPLETED	Trial of Asthma Patient Education (TAPE)
NCT00152984	PHASE4	COMPLETED	Efficacy and Safety of Tiotropium in Patients With COPD and Concomitant Diagnosis of Asthma
NCT00153075	PHASE4	COMPLETED	Flow Rate Effect Respimat Inhaler Versus a Metered Dose Inhaler Using Berodual in Patients With Chronic Obstructive Pulmonary Disease (COPD)
NCT00156819	PHASE4	COMPLETED	The Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial
NCT00157937	PHASE4	COMPLETED	A Study to Compare Effectiveness of Montelukast Sodium With Comparator in Mild to Moderate Persistent Asthmatics (0476-329)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
MONTELUKAST	4	147
ALBUTEROL	4	98
SALMETEROL	4	80
FLUTICASONE PROPIONATE	4	44
FORMOTEROL	4	44
ARFORMOTEROL	4	42
BUDESONIDE	4	39
OMALIZUMAB	4	35
VILANTEROL	4	33
CICLESONIDE	4	30
BECLOMETHASONE DIPROPIONATE	4	27
FLUTICASONE FUROATE	4	26
BENRALIZUMAB	4	23
MEPOLIZUMAB	4	22
DUPILUMAB	4	21
THEOPHYLLINE ANHYDROUS	4	21
LEVOSALBUTAMOL	4	20
MOMETASONE FUROATE	4	19
TIOTROPIUM	4	18
TEZEPELUMAB	4	16
INDACATEROL	4	12
TERBUTALINE	4	9
DARIFENACIN	4	8
AZITHROMYCIN	4	7
DEXAMETHASONE	4	7
METHACHOLINE	4	7
IPRATROPIUM BROMIDE	4	6
PREDNISOLONE	4	5
PREDNISONE	4	5
RESLIZUMAB	4	4