Coronary artery disorder

Summary

Coronary artery disorder (MONDO:0005010) is a disease (an umbrella term covering 12 Mondo subtypes) with 72 cohort genes (4,081 GWAS associations across 210 studies) and 5,111 clinical trials. Top therapeutic interventions include clopidogrel, prasugrel, and rosuvastatin.

At a glance

• Umbrella term: 12 Mondo subtypes
• Cohort genes: 72
• GWAS associations: 4,081
• ClinVar variants: 14
• Clinical trials: 5,111

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	coronary artery disorder
Mondo ID	MONDO:0005010
EFO	EFO:0001645
MeSH	D003324
DOID	DOID:3393
ICD-11	1059873720
NCIT	C26732
SNOMED CT	414024009
UMLS	C1956346
MedGen	365486
Anatomy (UBERON)	UBERON:0000948, UBERON:0001621
Is cancer (heuristic)	no

Also known as: CAD · CHD (coronary heart disease) · coronary arteriosclerosis · coronary artery disease · coronary artery disease or disorder · coronary disease · coronary heart disease · disease of coronary artery · disease or disorder of coronary artery · disorder of coronary artery

Data availability: 14 ClinVar variants · 4,081 GWAS associations (210 studies) · 3 GenCC gene-disease records · 41 cell lines.

Disease family

An umbrella term covering 12 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › coronary artery disorder

Related subtypes (29): vertebral artery insufficiency, splenic artery aneurysm, basilar artery insufficiency, arteriosclerosis disorder, subclavian artery aneurysm, pulmonary artery choriocarcinoma, pulmonary artery leiomyosarcoma, hypertensive disorder, carotid artery disorder, pulmonary embolism, peripheral arterial disease, hypotensive disorder, large artery stroke, aortic disorder, cervical artery dissection, anterior spinal artery syndrome, fibromuscular dysplasia, retinal arterial tortuosity, Sneddon syndrome, celiac trunk compression syndrome, pediatric arterial ischemic stroke, absence of the pulmonary artery, arterial occlusion, aberrant subclavian artery, anterior spinal artery stroke, arteritis, pulmonary artery disease, fibromuscular dysplasia, multifocal, carotid web

Subtypes (12): coronary vasospasm, postoperative ventricular dysfunction, coronary aneurysm, coronary stenosis, coronary thrombosis, intermediate coronary syndrome, coronary artery disease, autosomal dominant, 1, coronary artery disease, autosomal dominant 2, coronary artery congenital malformation, coronary atherosclerosis, nonobstructive coronary artery disease, fibromuscular dysplasia of the coronary arteries

Genetics & variants

GWAS landscape

4,081 GWAS associations across 210 studies. Top hits map to 33 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs4977574	9e-223	CDKN2B-AS1	A	0.18
rs2891168	5e-204	CDKN2B-AS1	A	0.19
rs1333049	2e-192	CDKN2B-AS1	C	0.19
rs55730499	3e-154	LPA	T	0.34
rs247617	1e-149	HERPUD1 - CETP	?
rs964184	2e-108	ZPR1	?
rs186696265	5e-92	LPA - PLG	T	0.55
rs780094	4e-91	GCKR	?
rs140570886	3e-87	LPA	T	0.48
rs9349379	3e-77	PHACTR1	A	0.12
rs8082812	5e-67	THEMIS3P - AKR1B1P6	?
rs602633	2e-59	CELSR2 - PSRC1	T	0.11
rs12740374	2e-57	CELSR2	T	0.12
rs629301	1e-49	CELSR2	?
rs10455872	2e-49	LPA	G	1.31
rs10757274	8e-45	CDKN2B-AS1	G	1.37
rs765547	2e-44	LPL - RPL30P9	?
rs6511720	5e-41	LDLR	T	0.14
rs7412	3e-39	APOE	T	0.16
rs55791371	2e-36	SMARCA4	A	0.12
rs7173743	5e-36	MORF4L1	T	0.06
rs261332	2e-35	ALDH1A2, LIPC-AS1, LIPC	?
rs671	2e-34	ALDH2	A	1.43
rs28451064	3e-33	KCNE2, MRPS6, LINC00310	A	0.11
rs6728861	1e-32	WDR12	A	0.11
rs4252185	2e-32	PLG	C	1.34
rs72934535	2e-32	NBEAL1	T	0.13
rs115654617	2e-32	NBEAL1	A	0.12
rs1728918	1e-31	PPM1G - NRBP1	?
rs147555597	3e-31	LPAL2	A	0.4

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST007544	Siewert KM	2018	122,733	424,528	Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.
GCST007545	Siewert KM	2018	122,733	424,528	Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.
GCST005195	van der Harst P	2017	122,733	424,528	Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
GCST005196	van der Harst P	2017	88,192	162,544	Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
GCST003116	Nikpay M	2015	42,096	99,121	A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
GCST004944	Winsvold BS	2017	37,653	171,108	Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants.
GCST005194	van der Harst P	2017	34,541	261,984	Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
GCST002289	Dichgans M	2013	33,398	75,726	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GCST004717	Peng C	2017	22,233	64,762	Genetic sharing with coronary artery disease identifies potential novel loci for bone mineral density.
GCST000998	Schunkert H	2011	22,233	64,762	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	4
Tier 2: splice/UTR	4
Tier 3: regulatory	0
Tier 4: intronic/intergenic	42

MAF distribution

Bucket	Variants
common (>=0.05)	46
low_freq (0.01-0.05)	3
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intron_variant	29
intergenic_variant	11
3_prime_UTR_variant	4
missense_variant	4
non_coding_transcript_exon_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs4977574	9	22098575	A>G,T	0.481	intron_variant	CDKN2B-AS1	9e-223	Tier 4: intronic/intergenic
rs2891168	9	22098620	A>G	0.475	intron_variant	CDKN2B-AS1	5e-204	Tier 4: intronic/intergenic
rs1333049	9	22125504	G>A,C	0.485	intergenic_variant	CDKN2B-AS1	2e-192	Tier 4: intronic/intergenic
rs55730499	6	160584578	C>T	0.069	intron_variant	LPA	3e-154	Tier 4: intronic/intergenic
rs247617	16	56956804	C>A	0.05	intergenic_variant	HERPUD1 - CETP	1e-149	Tier 4: intronic/intergenic
rs964184	11	116778201	G>C	0.05	3_prime_UTR_variant	ZPR1	2e-108	Tier 2: splice/UTR
rs186696265	6	160690668	C>T	0.013	intergenic_variant	LPA - PLG	5e-92	Tier 4: intronic/intergenic
rs780094	2	27518370	T>A,C,G	0.05	intron_variant	GCKR	4e-91	Tier 4: intronic/intergenic
rs140570886	6	160591981	T>C	0.017	intron_variant	LPA	3e-87	Tier 4: intronic/intergenic
rs9349379	6	12903725	A>C,G,T	0.412	intron_variant	PHACTR1	3e-77	Tier 4: intronic/intergenic
rs8082812	18	8522684	C>A	0.05	intergenic_variant	THEMIS3P - AKR1B1P6	5e-67	Tier 4: intronic/intergenic
rs602633	1	109278889	T>A,C,G	0.235	intergenic_variant	CELSR2 - PSRC1	2e-59	Tier 4: intronic/intergenic
rs12740374	1	109274968	G>T	0.219	3_prime_UTR_variant	CELSR2	2e-57	Tier 2: splice/UTR
rs629301	1	109275684	G>A,C,T	0.05	3_prime_UTR_variant	CELSR2	1e-49	Tier 2: splice/UTR
rs10455872	6	160589086	A>G	0.065	intron_variant	LPA	2e-49	Tier 4: intronic/intergenic
rs10757274	9	22096056	A>C,G,T	0.46	intron_variant	CDKN2B-AS1	8e-45	Tier 4: intronic/intergenic
rs765547	8	20008763	G>A,C,T	0.05	intergenic_variant	LPL - RPL30P9	2e-44	Tier 4: intronic/intergenic
rs6511720	19	11091630	G>T	0.117	intron_variant	LDLR	5e-41	Tier 4: intronic/intergenic
rs7412	19	44908822	C>T	0.08	missense_variant	APOE	3e-39	Tier 1: coding
rs55791371	19	11077477	A>C,T	0.113	intergenic_variant	SMARCA4	2e-36	Tier 4: intronic/intergenic
rs7173743	15	78849442	T>A,C	0.446	intergenic_variant	MORF4L1	5e-36	Tier 4: intronic/intergenic
rs261332	15	58435126	A>G	0.05	non_coding_transcript_exon_variant	ALDH1A2, LIPC-AS1, LIPC	2e-35	Tier 4: intronic/intergenic
rs671	12	111803962	G>A	0.23	missense_variant	ALDH2	2e-34	Tier 1: coding
rs28451064	21	34221526	G>A,T	0.124	intron_variant	KCNE2, MRPS6, LINC00310	3e-33	Tier 4: intronic/intergenic
rs6728861	2	203009020	G>A	0.117	intergenic_variant	WDR12	1e-32	Tier 4: intronic/intergenic
rs4252185	6	160702419	T>C	0.06	intron_variant	PLG	2e-32	Tier 4: intronic/intergenic
rs72934535	2	203104250	T>C	0.1	intron_variant	NBEAL1	2e-32	Tier 4: intronic/intergenic
rs115654617	2	203029276	C>A	0.116	intron_variant	NBEAL1	2e-32	Tier 4: intronic/intergenic
rs1728918	2	27412596	A>C,G,T	0.05	intron_variant	PPM1G - NRBP1	1e-31	Tier 4: intronic/intergenic
rs147555597	6	160490564	G>A	0.009	intron_variant	LPAL2	3e-31	Tier 4: intronic/intergenic

ClinVar germline variants

14 retrieved; paginated sample, class counts are floors:

6 benign, 3 uncertain significance, 3 pathogenic, 1 risk factor, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
633592	NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn)	CELA2A	Pathogenic	no assertion criteria provided
633594	NM_033440.3(CELA2A):c.639+1G>C	CELA2A	Pathogenic	no assertion criteria provided
633595	NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)	CELA2A	Pathogenic	criteria provided, multiple submitters, no conflicts
633593	NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)	CELA2A	Likely pathogenic	criteria provided, multiple submitters, no conflicts
441163	NM_005114.4(HS3ST1):c.-108-6848A>G	HS3ST1	risk factor	criteria provided, single submitter
684469	NM_002336.3(LRP6):c.1750C>T (p.His584Tyr)	LRP6	Uncertain significance	criteria provided, single submitter
374128	NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)	PRKAG2	Uncertain significance	criteria provided, multiple submitters, no conflicts
523426	NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)	RNF213	Uncertain significance	criteria provided, single submitter
1239762	NM_000078.3(CETP):c.118+279G>A	CETP	Benign	criteria provided, multiple submitters, no conflicts
17525	NM_000078.3(CETP):c.1264G>A (p.Val422Ile)	CETP	Benign	criteria provided, multiple submitters, no conflicts
1684531	NM_198551.4(MIA3):c.3632-105A>G	MIA3	Benign	criteria provided, single submitter
1684529	NM_000450.2(SELE):c.38-139T>C	SELE	Benign	criteria provided, single submitter
1684530	NM_000450.2(SELE):c.1723C>T (p.Leu575Phe)	SELE	Benign	criteria provided, multiple submitters, no conflicts
1272319	NM_005902.4(SMAD3):c.533-478T>C	SMAD3	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 74 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 4

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

Gene	HGNC	Evidence routes
RNF213	RNF213	GWAS, Orphanet
CETP	CETP	GWAS, Orphanet
MIA3	MIA3	GWAS
SMAD3	SMAD3	GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RNF213	Orphanet:2573	Moyamoya disease
CETP	Orphanet:181428	Familial Hyperalphalipoproteinemia
SMAD3	Orphanet:284984	Aneurysm-osteoarthritis syndrome
SMAD3	Orphanet:60030	Loeys-Dietz syndrome
SMAD3	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
CNNM2	Orphanet:620363	Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
BDNF	Orphanet:661	Congenital central hypoventilation syndrome
BDNF	Orphanet:893	WAGR syndrome
CFB	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality
ATXN2	Orphanet:803	Amyotrophic lateral sclerosis
ATXN2	Orphanet:98756	Spinocerebellar ataxia type 2
BLM	Orphanet:125	Bloom syndrome
BMP1	Orphanet:216812	Osteogenesis imperfecta type 3
BMP1	Orphanet:314029	High bone mass osteogenesis imperfecta
SEMA5A	Orphanet:281	Monosomy 5p syndrome
BMPR1B	Orphanet:2098	Acromesomelic dysplasia, Grebe type
BMPR1B	Orphanet:2639	Fibular aplasia-complex brachydactyly syndrome
BMPR1B	Orphanet:93384	Brachydactyly type C
BMPR1B	Orphanet:93388	Brachydactyly type A1
BMPR1B	Orphanet:93396	Brachydactyly type A2
SFTPC	Orphanet:2032	Idiopathic pulmonary fibrosis
SFTPC	Orphanet:217566	Chronic respiratory distress with surfactant metabolism deficiency
SFTPC	Orphanet:440392	Interstitial lung disease due to SP-C deficiency
SFTPC	Orphanet:685082	Pediatric acute respiratory distress syndrome
SIX5	Orphanet:107	BOR syndrome
SKI	Orphanet:1606	1p36 deletion syndrome
SKI	Orphanet:2462	Shprintzen-Goldberg syndrome
SKIC2	Orphanet:84064	Trichohepatoenteric syndrome
SMARCA4	Orphanet:1465	Coffin-Siris syndrome
SMARCA4	Orphanet:231108	Rhabdoid tumor predisposition syndrome
SMARCA4	Orphanet:370396	Small cell carcinoma of the ovary
SMARCA4	Orphanet:466962	SMARCA4-deficient sarcoma of thorax
SPINK2	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
BTNL2	Orphanet:797	Sarcoidosis
TAF6	Orphanet:694946	Alazami-Yuan syndrome
TBX20	Orphanet:54260	Left ventricular noncompaction
TBX20	Orphanet:99103	Atrial septal defect, ostium secundum type
TBXAS1	Orphanet:1802	Ghosal hematodiaphyseal dysplasia
HNF1A	Orphanet:319303	Chromophobe renal cell carcinoma
HNF1A	Orphanet:324575	Hyperinsulinism due to HNF1A deficiency
HNF1A	Orphanet:404511	Clear cell papillary renal cell carcinoma
HNF1A	Orphanet:552	MODY
TCF7L2	Orphanet:528084	Non-specific syndromic intellectual disability
TEK	Orphanet:1059	Blue rubber bleb nevus
TEK	Orphanet:2451	Mucocutaneous venous malformations
TEK	Orphanet:714806	Multifocal sporadic venous malformation
TEK	Orphanet:98976	Congenital glaucoma
TGFB1	Orphanet:1328	Camurati-Engelmann disease
TGFB1	Orphanet:565788	Infantile inflammatory bowel disease with neurological involvement
TGFB1	Orphanet:586	Cystic fibrosis

Cohort genes → proteins

72 cohort genes, 72 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	67
gwas_and_clinvar	4
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RNF213	HGNC:14539	ENSG00000173821	Q63HN8	E3 ubiquitin-protein ligase RNF213	gwas,clinvar
CETP	HGNC:1869	ENSG00000087237	P11597	Cholesteryl ester transfer protein	gwas,clinvar
MIA3	HGNC:24008	ENSG00000154305	Q5JRA6	Transport and Golgi organization protein 1 homolog	gwas,clinvar
SMAD3	HGNC:6769	ENSG00000166949	P84022	SMAD family member 3	gwas,clinvar
RNASE1	HGNC:10044	ENSG00000129538	P07998	Ribonuclease pancreatic	gwas
CNNM2	HGNC:103	ENSG00000148842	Q9H8M5	Metal transporter CNNM2	gwas
BDNF	HGNC:1033	ENSG00000176697	P23560	Neurotrophic factor BDNF precursor form	gwas
CFB	HGNC:1037	ENSG00000243649	P00751	Complement factor B	gwas
RRBP1	HGNC:10448	ENSG00000125844	Q9P2E9	Ribosome-binding protein 1	gwas
ATXN2	HGNC:10555	ENSG00000204842	Q99700	Ataxin-2	gwas
BLM	HGNC:1058	ENSG00000197299	P54132	RecQ-like DNA helicase BLM	gwas
BMP1	HGNC:1067	ENSG00000168487	P13497	Bone morphogenetic protein 1	gwas
CXCL12	HGNC:10672	ENSG00000107562	P48061	Stromal cell-derived factor 1	gwas
SELE	HGNC:10718	ENSG00000007908	P16581	E-selectin	clinvar
SEMA5A	HGNC:10736	ENSG00000112902	Q13591	Semaphorin-5A	gwas
SF3A3	HGNC:10767	ENSG00000183431	Q12874	Splicing factor 3A subunit 3	gwas
BMPR1B	HGNC:1077	ENSG00000138696	O00238	Bone morphogenetic protein receptor type-1B	gwas
SCAF11	HGNC:10784	ENSG00000139218	Q99590	Protein SCAF11	gwas
SFTPC	HGNC:10802	ENSG00000168484	P11686	Surfactant protein C	gwas
ST3GAL4	HGNC:10864	ENSG00000110080	Q11206	CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4	gwas
SIPA1	HGNC:10885	ENSG00000213445	Q96FS4	Signal-induced proliferation-associated protein 1	gwas
SIX5	HGNC:10891	ENSG00000177045	Q8N196	Homeobox protein SIX5	gwas
SKI	HGNC:10896	ENSG00000157933	P12755	Ski oncogene	gwas
SKIC2	HGNC:10898	ENSG00000204351	Q15477	Superkiller complex protein 2	gwas
SLC18A1	HGNC:10934	ENSG00000036565	P54219	Chromaffin granule amine transporter	gwas
SLC22A3	HGNC:10967	ENSG00000146477	O75751	Solute carrier family 22 member 3	gwas
SLC22A4	HGNC:10968	ENSG00000197208	Q9H015	Solute carrier family 22 member 4	gwas
SLC5A3	HGNC:11038	ENSG00000198743	P53794	Sodium/myo-inositol cotransporter	gwas
SMARCA4	HGNC:11100	ENSG00000127616	P51532	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4	gwas
SNRPD2	HGNC:11159	ENSG00000125743	P62316	Small nuclear ribonucleoprotein Sm D2	gwas
BSN	HGNC:1117	ENSG00000164061	Q9UPA5	Protein bassoon	gwas
SORT1	HGNC:11186	ENSG00000134243	Q99523	Sortilin	gwas
SPINK2	HGNC:11245	ENSG00000128040	P20155	Serine protease inhibitor Kazal-type 2	gwas
ZNRD2	HGNC:11328	ENSG00000173465	O60232	Protein ZNRD2	gwas
BTNL2	HGNC:1142	ENSG00000204290	Q9UIR0	Butyrophilin-like protein 2	gwas
TAF6	HGNC:11540	ENSG00000106290	P49848	Transcription initiation factor TFIID subunit 6	gwas
TBX2	HGNC:11597	ENSG00000121068	Q13207	T-box transcription factor TBX2	gwas
TBX20	HGNC:11598	ENSG00000164532	Q9UMR3	T-box transcription factor TBX20	gwas
TBXAS1	HGNC:11609	ENSG00000059377	P24557	Thromboxane-A synthase	gwas
HNF1A	HGNC:11621	ENSG00000135100	P20823	Hepatocyte nuclear factor 1-alpha	gwas
TCF21	HGNC:11632	ENSG00000118526	O43680	Transcription factor 21	gwas
TCF7L2	HGNC:11641	ENSG00000148737	Q9NQB0	Transcription factor 7-like 2	gwas
TCTA	HGNC:11692	ENSG00000145022	P57738	T-cell leukemia translocation-altered gene protein	gwas
TDRKH	HGNC:11713	ENSG00000182134	Q9Y2W6	Tudor and KH domain-containing protein	gwas
TEK	HGNC:11724	ENSG00000120156	Q02763	Angiopoietin-1 receptor	gwas
TGFB1	HGNC:11766	ENSG00000105329	P01137	Transforming growth factor beta-1 proprotein	gwas
TMOD4	HGNC:11874	ENSG00000163157	Q9NZQ9	Tropomodulin-4	gwas
GIGYF2	HGNC:11960	ENSG00000204120	Q6Y7W6	GRB10-interacting GYF protein 2	gwas
TNS1	HGNC:11973	ENSG00000079308	Q9HBL0	Tensin-1	gwas
TNXB	HGNC:11976	ENSG00000168477	P22105	Tenascin-X	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RNF213	E3 ubiquitin-protein ligase RNF213	Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity.
CETP	Cholesteryl ester transfer protein	Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles.
MIA3	Transport and Golgi organization protein 1 homolog	Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum.
SMAD3	SMAD family member 3	Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases.
RNASE1	Ribonuclease pancreatic	Endonuclease that catalyzes the cleavage of RNA on the 3’ side of pyrimidine nucleotides.
CNNM2	Metal transporter CNNM2	Divalent metal cation transporter.
BDNF	Neurotrophic factor BDNF precursor form	Important signaling molecule that activates signaling cascades downstream of NTRK2.
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…
RRBP1	Ribosome-binding protein 1	Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.
ATXN2	Ataxin-2	Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
BLM	RecQ-like DNA helicase BLM	ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3’-5’ direction.
BMP1	Bone morphogenetic protein 1	Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins.
CXCL12	Stromal cell-derived factor 1	Chemoattractant active on T-lymphocytes and monocytes but not neutrophils.
SELE	E-selectin	Cell-surface glycoprotein having a role in immunoadhesion.
SEMA5A	Semaphorin-5A	Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate prot…
SF3A3	Splicing factor 3A subunit 3	Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs.
BMPR1B	Bone morphogenetic protein receptor type-1B	On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases.
SCAF11	Protein SCAF11	Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly.
SFTPC	Surfactant protein C	Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces.
ST3GAL4	CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4	A beta-galactoside alpha2-3 sialyltransferase involved in terminal sialylation of glycoproteins and glycolipids.
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.
SIX5	Homeobox protein SIX5	Transcription factor that is thought to be involved in regulation of organogenesis.
SKI	Ski oncogene	May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage.
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.
SLC18A1	Chromaffin granule amine transporter	Electrogenic antiporter that exchanges one cationic monoamine with two intravesicular protons across the membrane of secretory and synaptic vesicles.
SLC22A3	Solute carrier family 22 member 3	Electrogenic voltage-dependent transporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics.
SLC22A4	Solute carrier family 22 member 4	Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations.
SLC5A3	Sodium/myo-inositol cotransporter	Electrogenic Na(+)-coupled sugar symporter that actively transports myo-inositol and its stereoisomer scyllo-inositol across the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1.
SMARCA4	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4	ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
SNRPD2	Small nuclear ribonucleoprotein Sm D2	Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome.
BSN	Protein bassoon	Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released.
SORT1	Sortilin	Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface.
SPINK2	Serine protease inhibitor Kazal-type 2	As a strong inhibitor of acrosin, it is required for normal spermiogenesis.
ZNRD2	Protein ZNRD2	Might play a role in mitosis.
BTNL2	Butyrophilin-like protein 2	Negative regulator of T-cell proliferation.
TAF6	Transcription initiation factor TFIID subunit 6	The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription.
TBX2	T-box transcription factor TBX2	Transcription factor which acts as a transcriptional repressor.
TBX20	T-box transcription factor TBX20	Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.
TBXAS1	Thromboxane-A synthase	Catalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation.
HNF1A	Hepatocyte nuclear factor 1-alpha	Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver.
TCF21	Transcription factor 21	Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis.
TCF7L2	Transcription factor 7-like 2	Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner.
TCTA	T-cell leukemia translocation-altered gene protein	May be required for cellular fusion during osteoclastogenesis.
TDRKH	Tudor and KH domain-containing protein	Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity.
TEK	Angiopoietin-1 receptor	Tyrosine-protein kinase that acts as a cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskelet…
TGFB1	Transforming growth factor beta-1 proprotein	Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively.
TMOD4	Tropomodulin-4	Blocks the elongation and depolymerization of the actin filaments at the pointed end.
GIGYF2	GRB10-interacting GYF protein 2	Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation.
TNS1	Tensin-1	May act as a protein phosphatase and/or a lipid phosphatase.
TNXB	Tenascin-X	Appears to mediate interactions between cells and the extracellular matrix.

Protein-family classification

Druggable: 21 · Difficult: 19 · Unknown: 32 · Druggable fraction: 0.29

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
Complement	2	7.4×	0.161
Protease	5	2.5×	0.161
Transcription factor	14	1.6×	0.161
Transporter	3	3.2×	0.164
Antibody/Immunoglobulin	3	1.2×	0.750
Scaffold/PPI	5	1.2×	0.750
Phosphatase	1	1.2×	0.820
Enzyme (other)	5	0.8×	0.820
Kinase	2	0.8×	0.820
Other/Unknown	32	0.8×	0.980

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RNF213	Transcription factor	no		Znf_RING, AAA+_ATPase, Znf_RING/FYVE/PHD
CETP	Other/Unknown	no		Lipid-bd_serum_glycop_C, Cholesteryl_ester_transfer, Lipid-bd_serum_glycop_N
MIA3	Scaffold/PPI	no		SH3_domain, SH3-like_dom_sf, cTAGE_MIA/OTOR
SMAD3	Other/Unknown	no		SMAD_dom, MAD_homology1_Dwarfin-type, SMAD_FHA_dom_sf
RNASE1	Enzyme (other)	yes	4.6.1.18	RNaseA, RNaseA_AS, RNaseA_domain
CNNM2	Other/Unknown	no		CBS_dom, CNNM, RmlC-like_jellyroll
BDNF	Other/Unknown	no		Nerve_growth_factor-rel, Nerve_growth_factor_CS, Nerve_growth_factor-like
CFB	Protease	yes	3.4.21.47	Sushi_SCR_CCP_dom, Trypsin_dom, Peptidase_S1A
RRBP1	Other/Unknown	no		Rib_rcpt_KP, RRBP1
ATXN2	Other/Unknown	no		LsmAD_domain, PAM2_motif, LSM_dom_sf
BLM	Enzyme (other)	yes	3.6.4.12	Helicase_C-like, HRDC_dom, DNA/RNA_helicase_DEAH_CS
BMP1	Protease	yes	2.7.11.4	EGF-type_Asp/Asn_hydroxyl_site, EGF, CUB_dom
CXCL12	Other/Unknown	no		Chemokine_IL8-like_dom, CXC_Chemokine_domain, Interleukin_8-like_sf
SELE	Complement	yes		Sushi_SCR_CCP_dom, EGF, C-type_lectin-like
SEMA5A	Scaffold/PPI	no		TSP1_rpt, Semap_dom, Plexin_repeat
SF3A3	Transcription factor	no		Matrin/U1-C_Znf_C2H2, SF3a60_bindingd, SF3a60/Prp9_C
BMPR1B	Kinase	yes	2.7.10.2	TGFB_receptor, Activin_recp, Prot_kinase_dom
SCAF11	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS
SFTPC	Other/Unknown	no		SP-C, BRICHOS_dom, Surfactant_protein_propep
ST3GAL4	Enzyme (other)	yes	2.4.99.2	Glyco_trans_29, Sialyl_trans, GT29-like_sf
SIPA1	Scaffold/PPI	no		Rap/Ran_GAP_dom, PDZ, Rap/Ran-GAP_sf
SIX5	Transcription factor	no		HD, Homeodomain-like_sf, Homeobox_CS
SKI	Other/Unknown	no		SKI/SNO/DAC, DNA-bd_dom_put_sf, SAND-like_dom_sf
SKIC2	Other/Unknown	no		Helicase_C-like, DEAD/DEAH_box_helicase_dom, Ski2/MTR4_C
SLC18A1	Transporter	yes		Tet-R_TetA/multi-R_MdtG-like, MFS, MFS_dom
SLC22A3	Transporter	yes		Orgcat_transp/SVOP, Sugar_transporter_CS, MFS
SLC22A4	Transporter	yes		Orgcat_transp/SVOP, MFS_sugar_transport-like, Sugar_transporter_CS
SLC5A3	Other/Unknown	no		Na/solute_symporter, Na/solute_symporter_CS, Na/Glc_symporter_sf
SMARCA4	Other/Unknown	no		SNF2_N, Bromodomain, Helicase_C-like
SNRPD2	Other/Unknown	no		Sm_dom_euk/arc, LSM_dom_sf, Sm_D2
BSN	Transcription factor	no		Znf_piccolo, Znf_FYVE_PHD, Znf_RING/FYVE/PHD
SORT1	Scaffold/PPI	no		VPS10, WD40/YVTN_repeat-like_dom_sf, Sortilin_C
SPINK2	Other/Unknown	no		Kazal_dom, Kazal_dom_sf, SPINK2
ZNRD2	Other/Unknown	no		ZNRD2_N, UPF0148_domain
BTNL2	Antibody/Immunoglobulin	yes		Ig_C1-set, Ig_sub, Ig-like_dom
TAF6	Other/Unknown	no		TAF_TATA-bd_Histone-like_dom, Histone-fold, TAF6_C
TBX2	Transcription factor	no		TF_T-box, TF_Brachyury, p53-like_TF_DNA-bd_sf
TBX20	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
TBXAS1	Other/Unknown	no		Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
HNF1A	Transcription factor	no		HD, HNF1b_C, HNF1a_C
TCF21	Transcription factor	no		bHLH_dom, HLH_DNA-bd_sf, E-box_TF_Regulators
TCF7L2	Other/Unknown	no		HMG_box_dom, CTNNB1-bd_N, TCF/LEF
TCTA	Other/Unknown	no		TCTA
TDRKH	Other/Unknown	no		Tudor, KH_dom, KH_dom_type_1
TEK	Kinase	yes	2.7.10.1	Prot_kinase_dom, EGF, Ser-Thr/Tyr_kinase_cat_dom
TGFB1	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGFb1
TMOD4	Other/Unknown	no		TMOD, LRR_dom_sf
GIGYF2	Other/Unknown	no		GYF, GYF-like_dom_sf, GRB10-interact_GYF
TNS1	Phosphatase	yes		SH2, PKC_DAG/PE, Tyr_Pase_cat
TNXB	Antibody/Immunoglobulin	yes		EGF, Fibrinogen_a/b/g_C_dom, FN3_dom

Expression context

Cohort genes with no expression data: 0.

63 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)	0
broad (>20)	72
unknown	0

Top tissues across cohort

Tissue	Cohort genes
primordial germ cell in gonad	7
right lung	6
oocyte	6
right lobe of liver	6
liver	5
calcaneal tendon	4
hindlimb stylopod muscle	4
tendon of biceps brachii	4
right testis	4
secondary oocyte	4
buccal mucosa cell	4
colonic epithelium	4
ganglionic eminence	4
granulocyte	3
pancreatic ductal cell	3
body of pancreas	3
right adrenal gland	3
stromal cell of endometrium	3
male germ line stem cell (sensu Vertebrata) in testis	3
sural nerve	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RNF213	252	ubiquitous	marker	granulocyte, metanephros cortex, pancreatic ductal cell
CETP	165	broad	marker	lymph node, spleen, liver
MIA3	282	ubiquitous	marker	calcaneal tendon, adrenal tissue, body of pancreas
SMAD3	288	ubiquitous	marker	tendon of biceps brachii, cartilage tissue, hindlimb stylopod muscle
RNASE1	283	broad	marker	left testis, right testis, right lung
CNNM2	234	ubiquitous	marker	secondary oocyte, oocyte, right adrenal gland
BDNF	189	ubiquitous	yes	saphenous vein, pons, oocyte
CFB	134	broad	marker	right lobe of liver, liver, gall bladder
RRBP1	298	ubiquitous	marker	body of pancreas, parotid gland, tendon of biceps brachii
ATXN2	286	ubiquitous	marker	buccal mucosa cell, colonic epithelium, olfactory bulb
BLM	199	ubiquitous	marker	parotid gland, primordial germ cell in gonad, secondary oocyte
BMP1	236	ubiquitous	marker	stromal cell of endometrium, left uterine tube, right adrenal gland cortex
CXCL12	275	ubiquitous	marker	synovial joint, pericardium, mammary duct
SELE	213	broad	marker	vena cava, left uterine tube, male germ line stem cell (sensu Vertebrata) in testis
SEMA5A	262	ubiquitous	marker	metanephric glomerulus, renal glomerulus, stromal cell of endometrium
SF3A3	289	ubiquitous	marker	sural nerve, calcaneal tendon, colonic epithelium
BMPR1B	239	broad	marker	calcaneal tendon, bronchial epithelial cell, cauda epididymis
SCAF11	295	ubiquitous	marker	buccal mucosa cell, colonic epithelium, tendon of biceps brachii
SFTPC	208	tissue_specific	marker	lower lobe of lung, right lung, adult organism
ST3GAL4	249	ubiquitous	marker	lower esophagus mucosa, left adrenal gland cortex, left adrenal gland
SIPA1	191	ubiquitous	marker	granulocyte, spleen, lower esophagus mucosa
SIX5	205	ubiquitous	yes	cardiac muscle of right atrium, right uterine tube, right ovary
SKI	268	ubiquitous	marker	nipple, right hemisphere of cerebellum, cerebellar hemisphere
SKIC2	134	ubiquitous	yes	right lobe of liver, pituitary gland, adenohypophysis
SLC18A1	79	tissue_specific	marker	diaphragm, male germ line stem cell (sensu Vertebrata) in testis, buccal mucosa cell
SLC22A3	189	broad	marker	thoracic aorta, ascending aorta, descending thoracic aorta
SLC22A4	201	ubiquitous	marker	bronchial epithelial cell, epithelium of bronchus, bronchus
SLC5A3	291	ubiquitous	marker	renal medulla, choroid plexus epithelium, tibia
SMARCA4	295	ubiquitous	marker	ganglionic eminence, cortical plate, cervix squamous epithelium
SNRPD2	295	ubiquitous	marker	adult organism, type B pancreatic cell, embryo

Protein interactions among cohort

Intra-cohort edges: 15.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SMARCA4	8,138
TGFB1	7,596
SMAD3	6,440
BDNF	5,587
CXCL12	4,892
UMPS	4,760
SF3A3	4,041
WT1	3,938
TCF7L2	3,775
TWIST1	3,507

Intra-cohort edges

A	B	Sources
ASZ1	TDRKH	string_interaction
BDNF	SORT1	biogrid_interaction, intact, string_interaction
BMP1	C1S	intact, string_interaction
C1S	C2	intact
C2	SKIC2	string_interaction
C5	CFB	string_interaction
CNNM2	SFTPC	intact
CXCL12	TEK	string_interaction
SF3A3	SNRPD2	biogrid_interaction, intact
SKI	SMAD3	biogrid_interaction, intact, string_interaction
SMAD3	TGFB1	string_interaction
SORT1	VAMP5	intact
TCF21	WT1	string_interaction
TGFB1	TNXB	intact
VAMP5	VAMP8	string_interaction

Structural data

PDB: 45 · AlphaFold-only: 27 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SNRPD2	P62316	81
UMPS	P11172	72
VEGFA	P15692	56
SF3A3	Q12874	46
C5	P01031	42
CXCL12	P48061	34
TAF6	P49848	32
SMARCA4	P51532	31
WT1	P19544	28
CFB	P00751	26
TGFB1	P01137	20
SELE	P16581	17
SORT1	Q99523	17
TEK	Q02763	17
BLM	P54132	15
C1S	P09871	14
C2	P06681	14
SMAD3	P84022	12
RNASE1	P07998	12
SKIC2	Q15477	11
BMP1	P13497	8
SLC18A1	P54219	8
CNNM2	Q9H8M5	7
HNF1A	P20823	6
TDRKH	Q9Y2W6	5
ZNF32	P17041	5
RNF213	Q63HN8	4
MIA3	Q5JRA6	4
SEMA5A	Q13591	4
SKI	P12755	4

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PGPEP1	Q9NXJ5	93.62
VPS33B	Q9H267	91.82
TBXAS1	P24557	91.50
ST3GAL4	Q11206	89.46
TMOD4	Q9NZQ9	86.28
BTNL2	Q9UIR0	85.97
UBE3B	Q7Z3V4	85.14
SLC22A4	Q9H015	85.07
WNT9B	O14905	84.50
VAMP5	O95183	80.60
ZPR1	O75312	80.11
SLC38A1	Q9H2H9	79.81
UNC5C	O95185	78.72
SLC5A3	P53794	78.65
SIPA1	Q96FS4	72.20
RRBP1	Q9P2E9	70.52
ZNF77	Q15935	68.67
TBX20	Q9UMR3	67.87
ASZ1	Q8WWH4	66.83
TCF21	O43680	66.67
TCTA	P57738	66.03
FIGN	Q5HY92	62.06
TBX2	Q13207	58.13
TNS1	Q9HBL0	53.42
SIX5	Q8N196	53.21
SCAF11	Q99590	42.56
BSN	Q9UPA5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 739. Enrichment computed across 250 evidence-associated genes (163 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 163 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective ABCG8 causes GBD4 and sitosterolemia	2	70.1×	0.055	ABCG5, ABCG8
Defective ABCG5 causes sitosterolemia	2	70.1×	0.055	ABCG5, ABCG8
Activation of C3 and C5	3	23.4×	0.055	CFB, C2, C5
Nephron development	3	16.2×	0.109	WNT9B, WT1, IRX1
Disease	25	2.0×	0.109	RNF213, SMAD3, BDNF, RRBP1, BLM, SEMA5A, ST3GAL4, SNRPD2 (+17 more)
Loss of Function of TGFBR1 in Cancer	2	28.0×	0.128	SMAD3, TGFB1
Loss of Function of SMAD2/3 in Cancer	2	23.4×	0.128	SMAD3, TGFB1
Signaling by TGF-beta Receptor Complex in Cancer	2	23.4×	0.128	SMAD3, TGFB1
SMAD2/3 Phosphorylation Motif Mutants in Cancer	2	23.4×	0.128	SMAD3, TGFB1
TGFBR1 KD Mutants in Cancer	2	23.4×	0.128	SMAD3, TGFB1
Anchoring fibril formation	3	14.0×	0.128	BMP1, COL4A1, COL4A2
Crosslinking of collagen fibrils	3	10.5×	0.128	BMP1, COL4A1, COL4A2
Regulation of MITF-M-dependent genes involved in cell cycle and proliferation	3	10.5×	0.128	TBX2, TCF7L2, CDKN2A
Transcriptional regulation by RUNX3	4	6.7×	0.128	SMAD3, TCF7L2, TGFB1, CDKN2A
Collagen biosynthesis and modifying enzymes	5	5.2×	0.128	BMP1, SERPINH1, ADAMTS3, COL4A1, COL4A2
RAC1 GTPase cycle	9	3.4×	0.128	MCF2L, VANGL1, SWAP70, ARHGAP26, ARHGAP20, FGD5, DOCK6, PLEKHG1 (+1 more)
Signal Transduction	28	1.8×	0.128	SMAD3, BDNF, CXCL12, BMPR1B, ST3GAL4, SKI, SMARCA4, TCF7L2 (+20 more)
RUNX3 regulates CDKN1A transcription	2	20.0×	0.167	SMAD3, TGFB1
Collagen formation	3	8.4×	0.189	BMP1, SERPINH1, ADAMTS3
Regulation of Complement cascade	4	5.7×	0.189	CFB, C1S, C2, C5
O-linked glycosylation	5	4.4×	0.189	SEMA5A, ST3GAL4, B3GNT2, ADAMTSL4, ADAMTS3
Downregulation of TGF-beta receptor signaling	3	7.5×	0.241	SMAD3, TGFB1, PMEPA1
CDC42 GTPase cycle	7	3.1×	0.241	ARHGEF12, MCF2L, VANGL1, ARHGAP26, ARHGAP20, DOCK6, PLEKHG1
RUNX3 regulates p14-ARF	2	14.0×	0.250	TGFB1, CDKN2A
Signaling by TGF-beta Receptor Complex	4	4.9×	0.250	SMAD3, SKI, TGFB1, CDKN2B
Diseases of signal transduction by growth factor receptors and second messengers	8	2.8×	0.250	RNF213, SMAD3, BDNF, RRBP1, TCF7L2, TGFB1, SPRED2, KSR2
SARS-CoV-2 modulates autophagy	2	12.7×	0.261	VPS33B, VPS11
Regulation of CDH11 gene transcription	2	12.7×	0.261	PRDM8, ZEB2
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	3	6.8×	0.261	SMAD3, SKI, CDKN2B
Defective TBXAS1 causes GHDD	1	70.1×	0.301	TBXAS1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 229 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
triglyceride homeostasis	6	12.6×	0.011	CETP, ABCG5, ABCG8, ANGPTL4, SCARB1, APOA5
positive regulation of axon extension involved in axon guidance	3	31.5×	0.024	CXCL12, SEMA5A, VEGFA
regulatory T cell differentiation	3	27.6×	0.024	TGFB1, PRDM16, ZBTB46
sprouting angiogenesis	5	10.5×	0.024	RNF213, TEK, TGFB1, VEGFA, CDH13
positive regulation of epithelial to mesenchymal transition	6	8.3×	0.024	SMAD3, TBX20, TCF7L2, TGFB1, TNXB, TWIST1
collagen fibril organization	7	6.9×	0.024	BMP1, TNXB, VPS33B, SERPINH1, ADAMTS3, COL4A1, COL4A2
regulation of small GTPase mediated signal transduction	9	5.7×	0.024	SIPA1, ARHGEF12, MCF2L, SWAP70, ARHGAP26, ARHGAP20, FGD5, PLEKHG1 (+1 more)
cholesterol homeostasis	8	5.5×	0.024	CETP, ABCG5, ABCG8, HDAC9, SCARB1, APOA5, PCSK9, NUS1
negative regulation of DNA-templated transcription	19	2.6×	0.024	SIX5, SMARCA4, TBX2, TBX20, TCF7L2, TGFB1, TWIST1, WT1 (+11 more)
negative regulation of intestinal phytosterol absorption	2	73.6×	0.025	ABCG5, ABCG8
negative regulation of intestinal cholesterol absorption	2	73.6×	0.025	ABCG5, ABCG8
triglyceride metabolic process	5	9.7×	0.025	CETP, SLC22A4, TNXB, APOA5, PCSK9
lymph vessel morphogenesis	2	49.1×	0.052	VEGFA, SVEP1
positive regulation of positive chemotaxis	3	18.4×	0.052	SMAD3, VEGFA, CDH13
negative regulation of miRNA transcription	4	10.9×	0.052	SMAD3, TGFB1, TWIST1, VEGFA
negative regulation of SMAD protein signal transduction	4	10.5×	0.052	SKI, TBX20, PMEPA1, FAM89B
positive regulation of endothelial cell proliferation	6	6.0×	0.052	CXCL12, SEMA5A, TEK, VEGFA, PRKD2, CDH13
glomerulus development	3	17.0×	0.055	TCF21, WT1, PLCE1
collagen-activated tyrosine kinase receptor signaling pathway	3	17.0×	0.055	TSPAN9, COL4A1, COL4A2
collateral sprouting	3	15.8×	0.058	BDNF, ZEB2, RND2
endothelial cell proliferation	4	9.5×	0.058	TEK, VEGFA, ZEB2, SCARB1
negative regulation of fat cell differentiation	5	6.8×	0.058	SMAD3, SORT1, TGFB1, VEGFA, ZFPM2
heart development	10	3.4×	0.058	TEK, TGFB1, WT1, HDAC9, NCOA6, ZFPM2, CALCRL, TAB2 (+2 more)
cholesterol efflux	4	9.2×	0.060	ABCG5, ABCG8, SCARB1, APOA5
tolerance induction in gut-associated lymphoid tissue	2	36.8×	0.061	PRDM16, ZBTB46
negative regulation of skeletal muscle tissue development	2	36.8×	0.061	TGFB1, TWIST1
positive regulation of vasculature development	2	36.8×	0.061	CXCL12, TGFB1
negative regulation of female gonad development	2	36.8×	0.061	WT1, ZFPM2
positive regulation of vascular endothelial growth factor signaling pathway	3	14.7×	0.061	TNXB, VEGFA, ADAMTS3
positive regulation of miRNA transcription	5	6.3×	0.061	SMAD3, SMARCA4, TGFB1, WT1, MRTFA

Therapeutics

Drugs indicated for this disease

16 approved, 103 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Alirocumab	Approved (phase 4)
Aspirin	Approved (phase 4)
Atenolol	Approved (phase 4)
Bempedoic Acid	Approved (phase 4)
Dipyridamole	Approved (phase 4)
Evolocumab	Approved (phase 4)
Gemfibrozil	Approved (phase 4)
Isosorbide Dinitrate	Approved (phase 4)
Isosorbide Mononitrate	Approved (phase 4)
Lovastatin	Approved (phase 4)
Niacin	Approved (phase 4)
Nitroglycerin	Approved (phase 4)
Ramipril	Approved (phase 4)
Rivaroxaban	Approved (phase 4)
Simvastatin	Approved (phase 4)
Ticagrelor	Approved (phase 4)
Acarbose	Phase 3 (in late-stage trials)
Acetylcysteine	Phase 3 (in late-stage trials)
Alanine	Phase 3 (in late-stage trials)
Alanyl Glutamine	Phase 3 (in late-stage trials)
Aliskiren	Phase 3 (in late-stage trials)
Alteplase	Phase 3 (in late-stage trials)
Amlodipine	Phase 3 (in late-stage trials)
Anacetrapib	Phase 3 (in late-stage trials)
Anivamersen	Phase 3 (in late-stage trials)
Apabetalone	Phase 3 (in late-stage trials)
Ascorbic Acid	Phase 3 (in late-stage trials)
Atorvastatin	Phase 3 (in late-stage trials)
Azithromycin	Phase 3 (in late-stage trials)
Benazepril	Phase 3 (in late-stage trials)
Bivalirudin	Phase 3 (in late-stage trials)
Caffeine	Phase 3 (in late-stage trials)
Calcium	Phase 3 (in late-stage trials)
Candesartan Cilexetil	Phase 3 (in late-stage trials)
Carvedilol	Phase 3 (in late-stage trials)
Chlorothiazide	Phase 3 (in late-stage trials)
Chlorthalidone	Phase 3 (in late-stage trials)
Cholestyramine	Phase 3 (in late-stage trials)
Cilostazol	Phase 3 (in late-stage trials)
Clofibrate	Phase 3 (in late-stage trials)
Clopidogrel	Phase 3 (in late-stage trials)
Colchicine	Phase 3 (in late-stage trials)
Colestipol Hydrochloride	Phase 3 (in late-stage trials)
Dalcetrapib	Phase 3 (in late-stage trials)
Dapagliflozin	Phase 3 (in late-stage trials)
Dextrose	Phase 3 (in late-stage trials)
Diltiazem	Phase 3 (in late-stage trials)
Edetic Acid	Phase 3 (in late-stage trials)
Edifoligide Sodium	Phase 3 (in late-stage trials)
Enalapril	Phase 3 (in late-stage trials)
Enoximone	Phase 3 (in late-stage trials)
Ergocalciferol	Phase 3 (in late-stage trials)
Esmolol	Phase 3 (in late-stage trials)
Estradiol	Phase 3 (in late-stage trials)
Estrogens, Conjugated	Phase 3 (in late-stage trials)
Everolimus	Phase 3 (in late-stage trials)
Exenatide	Phase 3 (in late-stage trials)
Ezetimibe	Phase 3 (in late-stage trials)
Felodipine	Phase 3 (in late-stage trials)
Fenofibrate	Phase 3 (in late-stage trials)
Ferumoxytol	Phase 3 (in late-stage trials)
Fish Oil	Phase 3 (in late-stage trials)
Furosemide	Phase 3 (in late-stage trials)
Glimepiride	Phase 3 (in late-stage trials)
Glutamine	Phase 3 (in late-stage trials)
Heparin	Phase 3 (in late-stage trials)
Hyaluronidase	Phase 3 (in late-stage trials)
Hydralazine	Phase 3 (in late-stage trials)
Hydrochlorothiazide	Phase 3 (in late-stage trials)
Icosapent	Phase 3 (in late-stage trials)
Inclisiran	Phase 3 (in late-stage trials)
Insulin Aspart	Phase 3 (in late-stage trials)
Insulin Detemir	Phase 3 (in late-stage trials)
Insulin Glargine	Phase 3 (in late-stage trials)
Insulin Human	Phase 3 (in late-stage trials)
Insulin Pork	Phase 3 (in late-stage trials)
Insulin Susp Isophane Recombinant Human	Phase 3 (in late-stage trials)
Insulin Susp Isophane Semisynthetic Purified Human	Phase 3 (in late-stage trials)
Ivabradine	Phase 3 (in late-stage trials)
Lisinopril Anhydrous	Phase 3 (in late-stage trials)
Lycopene	Phase 3 (in late-stage trials)
Mannitol	Phase 3 (in late-stage trials)
Medroxyprogesterone Acetate	Phase 3 (in late-stage trials)
Metformin	Phase 3 (in late-stage trials)
Metoprolol	Phase 3 (in late-stage trials)
OMEGA-3 FATTY ACIDS	Phase 3 (in late-stage trials)
Oxygen	Phase 3 (in late-stage trials)
Pegnivacogin	Phase 3 (in late-stage trials)
Pexelizumab	Phase 3 (in late-stage trials)
Pioglitazone	Phase 3 (in late-stage trials)
Pitavastatin	Phase 3 (in late-stage trials)
Potassium Chloride	Phase 3 (in late-stage trials)
Prasugrel	Phase 3 (in late-stage trials)
Progesterone	Phase 3 (in late-stage trials)
Propranolol	Phase 3 (in late-stage trials)
Quercetin	Phase 3 (in late-stage trials)
Ranolazine	Phase 3 (in late-stage trials)
Regadenoson Anhydrous	Phase 3 (in late-stage trials)
Repaglinide	Phase 3 (in late-stage trials)
Reserpine	Phase 3 (in late-stage trials)
Rimonabant	Phase 3 (in late-stage trials)
Rosiglitazone	Phase 3 (in late-stage trials)
Rosuvastatin	Phase 3 (in late-stage trials)
Semaglutide	Phase 3 (in late-stage trials)
Sevoflurane	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)
Streptokinase	Phase 3 (in late-stage trials)
Tamoxifen	Phase 3 (in late-stage trials)
Terazosin	Phase 3 (in late-stage trials)
Testosterone	Phase 3 (in late-stage trials)
Thiazolidinedione	Phase 3 (in late-stage trials)
Tirofiban	Phase 3 (in late-stage trials)
Torcetrapib	Phase 3 (in late-stage trials)
Tranexamic Acid	Phase 3 (in late-stage trials)
Triamterene	Phase 3 (in late-stage trials)
Valsartan	Phase 3 (in late-stage trials)
Vitamin E	Phase 3 (in late-stage trials)
Warfarin	Phase 3 (in late-stage trials)
Xenon	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Adenosine, Amiloride, Argatroban, Cangrelor, Dabigatran Etexilate, Dexmedetomidine, Edoxaban, Epoetin Alfa, Eptifibatide, Folic Acid, Fospropofol, Gefarnate, HYDROXYETHYL STARCH 130/0.4, Inclacumab, Levosimendan, Methotrexate, Nicorandil, Nitric Oxide, Otamixaban, Pentoxifylline, Propofol, Riociguat, Selatogrel, Serelaxin, Testosterone Undecanoate, Ubidecarenone, Varespladib Methyl.

Drug target analysis

Approved (phase 4): 11 · Phase ≥3: 15 · Phased (≥1): 19 · Undrugged: 53

Druggability breadth: 96 of 250 evidence-associated genes (38%) 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
SMAD3	FLUORESCEIN
CFB	IPTACOPAN
BLM	AMIFOSTINE
CXCL12	PLERIXAFOR
BMPR1B	MOMELOTINIB
SLC18A1	RESERPINE
SLC22A3	PROGESTERONE
TBXAS1	CLOTRIMAZOLE
TEK	CETIRIZINE
VEGFA	VADADUSTAT
C5	OXAPROZIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BLM	284	4
TBXAS1	46	4
TEK	46	4
BMPR1B	28	4
SLC22A3	20	4
CETP	5	3
VEGFA	5	4
C5	4	4
SMAD3	2	4
CXCL12	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FLUORESCEIN	4	BLM, SMAD3
IPTACOPAN	4	CFB
AMIFOSTINE	4	BLM
BEXAROTENE	4	BLM
DICLOFENAC SODIUM	4	BLM
CLOTRIMAZOLE	4	BLM, TBXAS1
OXCARBAZEPINE	4	BLM
BUMETANIDE	4	BLM
GLIPIZIDE	4	BLM
SALMETEROL XINAFOATE	4	BLM
AMIODARONE HYDROCHLORIDE	4	BLM
INDIGOTINDISULFONATE	4	BLM
TRIHEXYPHENIDYL HYDROCHLORIDE	4	BLM
RALOXIFENE HYDROCHLORIDE	4	BLM
IDARUBICIN	4	BLM
EDROPHONIUM CHLORIDE	4	BLM
PINACIDIL ANHYDROUS	4	BLM
DITHIAZANINE	4	BLM
TRIMETREXATE	4	BLM
NICARDIPINE HYDROCHLORIDE	4	BLM
PILOCARPINE HYDROCHLORIDE	4	BLM
PHENYLEPHRINE HYDROCHLORIDE	4	BLM
APRACLONIDINE HYDROCHLORIDE	4	BLM
DOXYLAMINE SUCCINATE	4	BLM
ROPINIROLE HYDROCHLORIDE	4	BLM
TETRAHYDROZOLINE HYDROCHLORIDE	4	BLM
MOLINDONE HYDROCHLORIDE	4	BLM
PARGYLINE HYDROCHLORIDE	4	BLM
GUANFACINE HYDROCHLORIDE	4	BLM
BROMOCRIPTINE MESYLATE	4	BLM

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 12.

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

Symbol	Assays	Type breakdown
TEK	707	Binding:701, Functional:4, ADMET:2
SMARCA4	230	Binding:207, ADMET:12, Functional:11
TBXAS1	210	Binding:138, Functional:72
BMPR1B	166	Binding:164, ADMET:2
CETP	132	Binding:127, Functional:5
SELE	118	Binding:108, Functional:10
BLM	82	Binding:78, Functional:4
VEGFA	64	Binding:64
CFB	33	Binding:33
SLC22A3	33	Binding:17, Functional:11, ADMET:5
BMP1	30	Binding:29, ADMET:1
C1S	30	Binding:28, Functional:2
CXCL12	29	Binding:29
SLC22A4	29	Functional:26, ADMET:3
C5	25	Binding:25
SMAD3	24	Binding:18, Functional:6
TCF7L2	22	Binding:22
RNASE1	17	Binding:16, ADMET:1
SORT1	17	Binding:15, ADMET:2
UMPS	14	Binding:14
TGFB1	9	Binding:9
SF3A3	8	Binding:8
SNRPD2	8	Binding:8
ATXN2	5	Binding:3, Functional:2
GIGYF2	5	Binding:5
C2	4	Binding:4
BDNF	2	Binding:2
SLC18A1	2	Functional:1, Binding:1
SLC38A1	2	Binding:2
PGPEP1	2	Binding:2
RNF213	1	Binding:1
MIA3	1	Binding:1
RRBP1	1	Binding:1
ZNRD2	1	Binding:1
TAF6	1	Binding:1
HNF1A	1	Binding:1
VAMP8	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RNASE1	4.6.1.18	pancreatic ribonuclease
CFB	3.4.21.47	alternative-complement-pathway C3/C5 convertase
BLM	3.6.4.12	DNA helicase
BMP1	2.7.11.4, 3.4.24.19, 3.4.24.21	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase, procollagen C-endopeptidase, astacin
BMPR1B	2.7.10.2	non-specific protein-tyrosine kinase
ST3GAL4	2.4.99.2, 2.4.99.6	beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3-sialyltransferase, N-acetyllactosaminide alpha-2,3-sialyltransferase
TEK	2.7.10.1	receptor protein-tyrosine kinase
C1S	3.4.21.42	complement subcomponent C1s
UMPS	4.1.1.23	orotidine-5’-phosphate decarboxylase
C5	3.4.21.43	classical-complement-pathway C3/C5 convertase
UBE3B	2.3.2.26, 2.3.2.B11	HECT-type E3 ubiquitin transferase,
PGPEP1	3.4.19.3	pyroglutamyl-peptidase I

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
CETP	132
SELE	118
BMPR1B	166
SMARCA4	230
TBXAS1	210
TEK	707

Pharmacogenomics

Cohort genes with a PharmGKB record: 72; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

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)
FLUORESCEIN	4	BLM, SMAD3
IPTACOPAN	4	CFB
AMIFOSTINE	4	BLM
BEXAROTENE	4	BLM
DICLOFENAC SODIUM	4	BLM
CLOTRIMAZOLE	4	BLM, TBXAS1
OXCARBAZEPINE	4	BLM
BUMETANIDE	4	BLM
GLIPIZIDE	4	BLM
SALMETEROL XINAFOATE	4	BLM
AMIODARONE HYDROCHLORIDE	4	BLM
INDIGOTINDISULFONATE	4	BLM
TRIHEXYPHENIDYL HYDROCHLORIDE	4	BLM
RALOXIFENE HYDROCHLORIDE	4	BLM
IDARUBICIN	4	BLM
EDROPHONIUM CHLORIDE	4	BLM
PINACIDIL ANHYDROUS	4	BLM
DITHIAZANINE	4	BLM
TRIMETREXATE	4	BLM
NICARDIPINE HYDROCHLORIDE	4	BLM
PILOCARPINE HYDROCHLORIDE	4	BLM
PHENYLEPHRINE HYDROCHLORIDE	4	BLM
APRACLONIDINE HYDROCHLORIDE	4	BLM
DOXYLAMINE SUCCINATE	4	BLM
ROPINIROLE HYDROCHLORIDE	4	BLM
TETRAHYDROZOLINE HYDROCHLORIDE	4	BLM
MOLINDONE HYDROCHLORIDE	4	BLM
PARGYLINE HYDROCHLORIDE	4	BLM
GUANFACINE HYDROCHLORIDE	4	BLM
BROMOCRIPTINE MESYLATE	4	BLM

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	11	SMAD3, CFB, BLM, CXCL12, BMPR1B, SLC18A1, SLC22A3, TBXAS1, TEK, VEGFA (+1 more)
B	Phased (≥1) drug, not yet approved	8	CETP, SELE, SMARCA4, SNRPD2, SORT1, TGFB1, C1S, UMPS
C	Druggable family + PDB, no drug	4	RNASE1, BMP1, TNXB, C2
D	Druggable family + AlphaFold only, no drug	7	ST3GAL4, SLC22A4, BTNL2, TNS1, UNC5C, UBE3B, PGPEP1
E	Difficult family or no structure, no drug	42	RNF213, MIA3, CNNM2, BDNF, RRBP1, ATXN2, SEMA5A, SF3A3, SCAF11, SFTPC (+32 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
BDNF	2	SORT1
RNF213	1	—
MIA3	1	—
RNASE1	17	—
CNNM2	0	—
RRBP1	1	—
ATXN2	5	—
BMP1	30	—
SEMA5A	0	—
SF3A3	8	—
SCAF11	0	—
SFTPC	0	—
ST3GAL4	0	—
SIPA1	0	—
SIX5	0	—
SKI	0	—
SKIC2	0	—
SLC22A4	29	—
SLC5A3	0	—
BSN	0	—
SPINK2	0	—
ZNRD2	1	—
BTNL2	0	—
TAF6	1	—
TBX2	0	—
TBX20	0	—
HNF1A	1	—
TCF21	0	—
TCF7L2	22	—
TCTA	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 5,111.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE4	686
PHASE3	344
PHASE2/PHASE3	52
PHASE2	18

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01475123	PHASE4	ACTIVE_NOT_RECRUITING	Prospective Study of End Stage Renal Disease Patients With Coronary Artery Disease Treated by Oral Nicorandil
NCT03169985	PHASE4	ACTIVE_NOT_RECRUITING	Randomized Controlled Trial of Moderate-Intensity Rosuvastatin With Ezetimibe Combination Therapy Versus High-Intensity Rosuvastatin on Progression of Coronary Atherosclerotic Plaque
NCT03378934	PHASE4	RECRUITING	Anti-platelet Effect of Berberine in Patients After Percutaneous Coronary Intervention
NCT03417388	PHASE4	ACTIVE_NOT_RECRUITING	Women’s IschemiA TRial to Reduce Events In Non-ObstRuctive CAD
NCT03462498	PHASE4	ACTIVE_NOT_RECRUITING	ShorT and OPtimal Duration of Dual AntiPlatelet Therapy-2 Study for the Patients With ACS
NCT03947229	PHASE4	ACTIVE_NOT_RECRUITING	A Randomized Comparison of CLOpidogrel Monotherapy Versus Extended Dual-antiplatelet Therapy Beyond 12 Months After Implantation of Drug-eluting StEnts in High-risk Lesions or Patients; A-CLOSE Trial
NCT04014803	PHASE4	RECRUITING	Aspirin and a PoTent P2Y12 Inhibitor Versus Aspirin and Clopidogrel in Patients Undergoing PCI for Complex Lesion
NCT04416581	PHASE4	RECRUITING	Potassium-Competitive Acid Blocker Versus pROton-Pump Inhibitor for GastroproTECTion Strategies In Patients at High Gastro-Intestinal Bleeding Risk Receiving Antithrombotic Therapy
NCT04436978	PHASE4	RECRUITING	What is the Optimal Antithrombotic Strategy in Patients With Atrial Fibrillation Undergoing PCI?
NCT04654052	PHASE4	ACTIVE_NOT_RECRUITING	VerifyNow to Optimise Platelet Inhibition in Coronary Acute Syndrome
NCT05030818	PHASE4	RECRUITING	Cross-over Study of Coronary Risk Factors With a Polypill
NCT05081999	PHASE4	ACTIVE_NOT_RECRUITING	De-Adoption of Beta-Blockers in Patients With Stable Ischemic Heart Disease
NCT05347069	PHASE4	RECRUITING	Efficacy and Safety of Aspirin in Patients With Chronic Coronary Syndromes Without Revascularization
NCT05418556	PHASE4	RECRUITING	Tailored Versus Coventional AntiPlaTelet Strategy Intended After OPTIMIZEd Drug Eluting Stent
NCT05427786	PHASE4	RECRUITING	A Study to Evaluate the Impact of Pre-procedural Intracoronary Nicorandil Injection to PREVENT ReductioN of DecREased TIMI FLOW in Patients Who Undergoing Percutaneous Coronary Intervention for the Coronary Artery Disease
NCT05437900	PHASE4	RECRUITING	INSIGHTFUL-FFR Clinical Trial
NCT05618353	PHASE4	RECRUITING	The Peri-OPerative COlchicine to Reduce Negative Events (POPCORN) Trial
NCT05631769	PHASE4	ACTIVE_NOT_RECRUITING	HOST - DAPT Duration According the Bleeding Risk
NCT05638867	PHASE4	RECRUITING	NOAC Therapy Guided by PARIS Risk Score and D-dimer in Patients With ACS After PCI
NCT05681702	PHASE4	RECRUITING	Tailoring Bleeding Reduction Approaches in Patients Undergoing PCI
NCT05845489	PHASE4	RECRUITING	Harmonizing Optimal Strategy for Treatment of Coronary Artery Stenosis- CloPidogREl for Primary preVENTION (HOST-PREVENTION)
NCT05850091	PHASE4	RECRUITING	Polygenic Risk-based Detection of Subclinical Coronary Atherosclerosis and Intervention With Statin and Colchicine
NCT05910476	PHASE4	ACTIVE_NOT_RECRUITING	Comparative Study of Rosuvastatin/Ezetimib 20/10 mg and Atovastatin/Ezetimib 40/10 mg (TOLERANT Trial)
NCT06068764	PHASE4	RECRUITING	Etomidate Versus Propofol in CABG Surgery
NCT06089577	PHASE4	RECRUITING	Effects of Cangrelor on MIcRovAscular Disfunction During Elective Percutaneous CORonary Intervention
NCT06186037	PHASE4	RECRUITING	Clinical Comparison of Low-dose Rosuvastatin Plus Ezetimibe Combination Therapy and High-dose Rosuvastatin Monotherapy in Patients With Minimal to Intermediate Coronary Artery Disease Without Percutaneous Coronary Intervention
NCT06228456	PHASE4	RECRUITING	Effects of Low-dose Ticagrelor vs. Clopidogrel in Stable Patients Undergoing Elective Percutaneous Coronary Intervention
NCT06338293	PHASE4	RECRUITING	Effects of Inclisiran Combined With Statins on the Morphology of Coronary Vulnerable Plaques
NCT06409117	PHASE4	NOT_YET_RECRUITING	3rd Generation Resorbable Magnesium Scaffolds vs Biodegradable Polymer Stents in NSTE/ACS
NCT06425120	PHASE4	RECRUITING	Effect of Xuesaitong Soft Capsules on Major Risk Factors in Patients With Coronary Heart Disease
NCT06451198	PHASE4	RECRUITING	IndObufen Versus asPirin After Coronary Drug-eluting Stent implantaTION in Elderly Patients With Acute Coronary Syndrome
NCT06475625	PHASE4	ACTIVE_NOT_RECRUITING	Clinical Impact of Orsiro™ Stent in Patient With Chronic Kidney Disease
NCT06509893	PHASE4	RECRUITING	Ticagrelore Alone Post PCI
NCT06520904	PHASE4	RECRUITING	Effect of PCSK9 Inhibitors on Coronary Atherosclerotic Plaques Derived From Optical Coherence Tomography
NCT06578234	PHASE4	RECRUITING	Hyperemic mYocardial Perfusion by adEnosine at diffeRent Doses
NCT06606821	PHASE4	RECRUITING	The Effects of Tirzepatide in People With Overweight/Obesity and Coronary Artery Disease
NCT06691191	PHASE4	RECRUITING	Switching From Dual Antiplatelet Therapy to Monotherapy With Potent P2Y12 Inhibitors
NCT06767345	PHASE4	RECRUITING	Comparison of Moderate-Intensity Statin Plus Ezetimibe vs. High-Intensity Statin for Coronary Plaque Stabilization
NCT06798714	PHASE4	RECRUITING	The Effect of Colchicine on the Occurrence of Atrial Fibrillation After Cardiac Surgery
NCT06821191	PHASE4	RECRUITING	Comparison of Dual Antiplatelet Therapy De-escalation by Dose Reduction Versus Switching in Patients Undergoing PCI: The Switching Antiplatelet-8 (SWAP-8) Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CLOPIDOGREL	4	140
PRASUGREL	4	34
ROSUVASTATIN	4	34
ASPIRIN	4	29
ATORVASTATIN	4	23
REGADENOSON ANHYDROUS	4	20
EZETIMIBE	4	19
SODIUM CHLORIDE	4	15
SIMVASTATIN	4	12
TRIMETAZIDINE	4	12
HEPARIN	4	11
NIACIN	4	11
RANOLAZINE	4	11
BIVALIRUDIN	4	10
PITAVASTATIN	4	10
CILOSTAZOL	4	7
IODIXANOL	4	7
TIROFIBAN	4	7
PRAVASTATIN	4	5
TELMISARTAN	4	5
ABCIXIMAB	4	4
ACARBOSE	4	4
DIPYRIDAMOLE	4	4
PROPOFOL	4	4
RAMIPRIL	4	4
AMLODIPINE	4	3
ENOXAPARIN SODIUM	4	3
ETOMIDATE	4	3
METFORMIN	4	3
PACLITAXEL	4	3