Thoracic aortic aneurysm

disease

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Summary

Thoracic aortic aneurysm (MONDO:0005396) is a disease caused by ARIH1 (GenCC Strong), with 24 cohort genes (33 GWAS associations across 8 studies) and 57 clinical trials. The dominant Reactome pathway is Loss of Function of TGFBR1 in Cancer (3 cohort genes). Top therapeutic interventions include iopamidol, spironolactone, and carbon dioxide.

At a glance

Causal gene: ARIH1 (GenCC Strong)
Cohort genes: 24
GWAS associations: 33
ClinVar variants: 17
Clinical trials: 57

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	thoracic aortic aneurysm
Mondo ID	MONDO:0005396
EFO	EFO:0004282
MeSH	D017545
DOID	DOID:14004
ICD-11	1383534118
SNOMED CT	433068007
UMLS	C0162872
MedGen	56525
Is cancer (heuristic)	no

Data availability: 17 ClinVar variants · 33 GWAS associations (8 studies) · 3 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › aortic disorder › aortic aneurysm › thoracic aortic aneurysm

Related subtypes (1): abdominal aortic aneurysm

Genetics & variants

GWAS landscape

33 GWAS associations across 8 studies. Top hits map to 20 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7866503	2e-13	CDKN2B-AS1	T	1.26
rs1036476	6e-13	FBN1	?	1.9
rs8087799	2e-09	RPS4XP18 - RBBP8-AS1	A	1.21
rs7904519	3e-09	TCF7L2	G	0.09
rs4073288	5e-09	RPS15AP30, TCF7L2	A	0.1
rs4074718	6e-09	TCF7L2	A	0.09
rs595244	1e-08	FBN1	T	1.35
rs149014140	2e-08	CTNNA3	?	4.27
rs148927240	2e-08	OR7E159P - GNG2	?	4.23
chrX:144499488	2e-08		?	0.49
rs78851735	4e-08	MBP	?	3.45
rs919433	5e-08	ANKRD44-IT1, ANKRD44	A	1.18
rs117892132	7e-08	CTNNA3	?	4.28
rs190411362	8e-08	CTNNA3	?	4.28
rs574212135	3e-07	CASC15, NBAT1	?	4.07
rs72996095	5e-07	CNTN4	?	2.18
rs689304	5e-07	FBN1	?	1.64
rs2448858	6e-07	UBE2V1P16 - RPL3P12	?	1.65
rs117755454	6e-07	GABRG3	?	4.52
rs12115792	7e-07	Y_RNA - PTPN3	?	1.6
rs548407431	7e-07	LINC00540 - FTH1P7	?	4.26
rs12494537	8e-07	RN7SL553P - MTARC2P1	?	1.54
rs61129840	8e-07	OXNAD1, RFTN1	?	2.6
rs142262004	8e-07	TRIM36	?	3.84
rs181551370	1e-06	HERC4	?	3.89
rs55654928	3e-06	ZNF630, ZNF182, ZNF81	?	1.25
chrX:47985570	4e-06		?	1.3
rs3020167	5e-06	RAD21-AS1 - AARD	?	6.5
rs1432302	6e-06	LINC01823 - LINC01826	?	5.1
rs141193095	7e-06	AFF2 - IDS	?	1.54

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST003683	van ’t Hof FN	2016	1,516	9,507	Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.
GCST90027266	Roychowdhury T	2021	1,351	18,295	Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.
GCST90840656	Musfee FI	2024	880	440,975	X-linked genetic associations in sporadic thoracic aortic dissection.
GCST001229	LeMaire SA	2011	765	0	Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
GCST90840655	Musfee FI	2024	516	440,101	X-linked genetic associations in sporadic thoracic aortic dissection.
GCST90840654	Musfee FI	2024	364	0	X-linked genetic associations in sporadic thoracic aortic dissection.
GCST006957	Aubart M	2018	51	0	Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.
GCST90038469	Ashvetiya T	2021	0	0	Identification of novel genetic susceptibility loci for thoracic and abdominal aortic aneurysms via genome-wide association study using the UK Biobank Cohort.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	2
Tier 4: intronic/intergenic	31

MAF distribution

Bucket	Variants
common (>=0.05)	20
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	13

Functional consequences

Consequence	Count
intron_variant	21
intergenic_variant	5
unknown	3
non_coding_transcript_exon_variant	2
regulatory_region_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7866503	9	22091925	G>A,C,T	0.416	intron_variant	CDKN2B-AS1	2e-13	Tier 4: intronic/intergenic
rs1036476	15	48622578	T>C	0.05	intron_variant	FBN1	6e-13	Tier 4: intronic/intergenic
rs8087799	18	22605468	G>A,T	0.324	intergenic_variant	RPS4XP18 - RBBP8-AS1	2e-09	Tier 4: intronic/intergenic
rs7904519	10	113014168	A>C,G	0.05	intron_variant	TCF7L2	3e-09	Tier 4: intronic/intergenic
rs4073288	10	112987518	G>A	0.05	non_coding_transcript_exon_variant	RPS15AP30, TCF7L2	5e-09	Tier 4: intronic/intergenic
rs4074718	10	112988858	G>A	0.05	intron_variant	TCF7L2	6e-09	Tier 4: intronic/intergenic
rs595244	15	48548638	C>T	0.082	intron_variant	FBN1	1e-08	Tier 4: intronic/intergenic
rs149014140	10	67103539	A>G		intron_variant	CTNNA3	2e-08	Tier 4: intronic/intergenic
rs148927240	14	51772792	G>A,C		intron_variant	OR7E159P - GNG2	2e-08	Tier 4: intronic/intergenic
chrX:144499488							2e-08	Tier 4: intronic/intergenic
rs78851735	18	77062724	C>T		non_coding_transcript_exon_variant	MBP	4e-08	Tier 4: intronic/intergenic
rs919433	2	197301841	G>A,C	0.416	intron_variant	ANKRD44-IT1, ANKRD44	5e-08	Tier 4: intronic/intergenic
rs117892132	10	67676236	C>A		intron_variant	CTNNA3	7e-08	Tier 4: intronic/intergenic
rs190411362	10	67267290	G>A		intron_variant	CTNNA3	8e-08	Tier 4: intronic/intergenic
rs574212135	6	22218875	GATT>G		intron_variant	CASC15, NBAT1	3e-07	Tier 4: intronic/intergenic
rs72996095	3	2419935	T>G	0.05	intron_variant	CNTN4	5e-07	Tier 4: intronic/intergenic
rs689304	15	48630163	C>T	0.05	intron_variant	FBN1	5e-07	Tier 4: intronic/intergenic
rs2448858	X	122316232	C>G,T	0.05	intergenic_variant	UBE2V1P16 - RPL3P12	6e-07	Tier 4: intronic/intergenic
rs117755454	15	27511502	C>G		intron_variant	GABRG3	6e-07	Tier 4: intronic/intergenic
rs12115792	9	109346054	A>G,T	0.05	regulatory_region_variant	Y_RNA - PTPN3	7e-07	Tier 3: regulatory
rs548407431	13	22338699	G>A		intergenic_variant	LINC00540 - FTH1P7	7e-07	Tier 4: intronic/intergenic
rs12494537	3	5975615	C>G,T	0.05	intron_variant	RN7SL553P - MTARC2P1	8e-07	Tier 4: intronic/intergenic
rs61129840	3	16322022	G>A	0.05	intron_variant	OXNAD1, RFTN1	8e-07	Tier 4: intronic/intergenic
rs142262004	5	115134742	G>A		intron_variant	TRIM36	8e-07	Tier 4: intronic/intergenic
rs181551370	10	67977930	G>A		intron_variant	HERC4	1e-06	Tier 4: intronic/intergenic
rs55654928	X	47985570	A>G,T	0.05	intron_variant	ZNF630, ZNF182, ZNF81	3e-06	Tier 4: intronic/intergenic
chrX:47985570							4e-06	Tier 4: intronic/intergenic
rs3020167	8	116916586	C>G,T	0.05	intergenic_variant	RAD21-AS1 - AARD	5e-06	Tier 4: intronic/intergenic
rs1432302	2	122195574	C>T	0.05	intron_variant	LINC01823 - LINC01826	6e-06	Tier 4: intronic/intergenic
rs141193095	X	149210161	C>A,T	0.05	intergenic_variant	AFF2 - IDS	7e-06	Tier 4: intronic/intergenic

ClinVar germline variants

17 retrieved; paginated sample, class counts are floors:

5 benign, 4 likely pathogenic, 3 benign/likely benign, 2 conflicting classifications of pathogenicity, 2 uncertain significance, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1184828	Single allele	BLK	Likely pathogenic	no assertion criteria provided
1184826	NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter)	ROBO4	Likely pathogenic	no assertion criteria provided
1184827	NM_019055.6(ROBO4):c.703G>A (p.Val235Met)	ROBO4	Likely pathogenic	no assertion criteria provided
1184825	NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala)	SMAD6	Likely pathogenic	no assertion criteria provided
1174575	NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro)	SMAD6	Conflicting classifications of pathogenicity	no assertion criteria provided
44651	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	TGFBR2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2922623	NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)	FBN1	Uncertain significance	criteria provided, multiple submitters, no conflicts
477540	NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)	TGFBR2	Uncertain significance	criteria provided, multiple submitters, no conflicts
136279	NM_001613.4(ACTA2):c.370-19T>C	ACTA2	Benign	criteria provided, multiple submitters, no conflicts
239099	NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)	GATA4	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
409041	NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser)	NOTCH1	Likely benign	criteria provided, single submitter
139212	NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	SMAD3	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
139217	NM_005902.4(SMAD3):c.309A>G (p.Leu103=)	SMAD3	Benign	criteria provided, multiple submitters, no conflicts
165381	NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)	TGFBR1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
36867	NM_003242.6(TGFBR2):c.263+7A>G	TGFBR2	Benign	criteria provided, multiple submitters, no conflicts
44652	NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)	TGFBR2	Benign	criteria provided, multiple submitters, no conflicts
44658	NM_003242.6(TGFBR2):c.455-4T>A	TGFBR2	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 56 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

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

Gene	HGNC	Evidence routes
FBN1	FBN1	GWAS, Orphanet
SMAD6	SMAD6	GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ARIH1	Strong	Autosomal dominant	thoracic aortic aneurysm
MAT2A	Moderate	Autosomal dominant	thoracic aortic aneurysm
EFEMP2	Limited	Autosomal dominant	thoracic aortic aneurysm	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FBN1	Orphanet:1885	Isolated ectopia lentis
FBN1	Orphanet:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
FBN1	Orphanet:2462	Shprintzen-Goldberg syndrome
FBN1	Orphanet:2623	Geleophysic dysplasia
FBN1	Orphanet:2833	Stiff skin syndrome
FBN1	Orphanet:284963	Marfan syndrome type 1
FBN1	Orphanet:284979	Neonatal Marfan syndrome
FBN1	Orphanet:300382	Progeroid and marfanoid aspect-lipodystrophy syndrome
FBN1	Orphanet:3449	Weill-Marchesani syndrome
FBN1	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
FBN1	Orphanet:969	Acromicric dysplasia
SMAD6	Orphanet:402075	Familial bicuspid aortic valve
EFEMP2	Orphanet:314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency
EFEMP2	Orphanet:90349	Autosomal recessive cutis laxa type 1
EFEMP2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
MAT2A	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
BLK	Orphanet:536	Systemic lupus erythematosus
BLK	Orphanet:552	MODY
TGFBR1	Orphanet:284973	Marfan syndrome type 2
TGFBR1	Orphanet:60030	Loeys-Dietz syndrome
TGFBR1	Orphanet:65748	Multiple self-healing squamous epithelioma
TGFBR1	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
TGFBR2	Orphanet:144	Lynch syndrome
TGFBR2	Orphanet:284973	Marfan syndrome type 2
TGFBR2	Orphanet:60030	Loeys-Dietz syndrome
TGFBR2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
TGFBR2	Orphanet:99977	Squamous cell carcinoma of the esophagus
ACTA2	Orphanet:2573	Moyamoya disease
ACTA2	Orphanet:404463	Multisystemic smooth muscle dysfunction syndrome
ACTA2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
CDKN2A	Orphanet:1333	Familial pancreatic carcinoma
CDKN2A	Orphanet:1501	Adrenocortical carcinoma
CDKN2A	Orphanet:252206	Melanoma and neural system tumor syndrome
CDKN2A	Orphanet:404560	Familial atypical multiple mole melanoma syndrome
CDKN2A	Orphanet:524	Li-Fraumeni syndrome
CDKN2A	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
CDKN2A	Orphanet:618	Familial melanoma
CDKN2A	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia
CDKN2B	Orphanet:618	Familial melanoma
CDKN2B	Orphanet:652	Multiple endocrine neoplasia type 1
ROBO4	Orphanet:402075	Familial bicuspid aortic valve
GATA4	Orphanet:251071	8p23.1 microdeletion syndrome
GATA4	Orphanet:251510	46,XY partial gonadal dysgenesis
GATA4	Orphanet:3303	Tetralogy of Fallot
GATA4	Orphanet:334	Hereditary atrial fibrillation
GATA4	Orphanet:576232	Partial atrioventricular septal defect with ventricular hypoplasia
GATA4	Orphanet:99067	Complete atrioventricular septal defect with ventricular hypoplasia
GATA4	Orphanet:99068	Complete atrioventricular septal defect-tetralogy of Fallot
GATA4	Orphanet:99103	Atrial septal defect, ostium secundum type
SMAD3	Orphanet:284984	Aneurysm-osteoarthritis syndrome

Cohort genes → proteins

24 cohort genes, 22 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	11
gwas_and_clinvar	2
multi_evidence	11

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FBN1	HGNC:3603	ENSG00000166147	P35555	Fibrillin-1	gwas,clinvar
SMAD6	HGNC:6772	ENSG00000137834	O43541	SMAD family member 6	gwas,clinvar
EFEMP2	HGNC:3219	ENSG00000172638	O95967	EGF-containing fibulin-like extracellular matrix protein 2	gencc
ARIH1	HGNC:689	ENSG00000166233	Q9Y4X5	E3 ubiquitin-protein ligase ARIH1	gencc
MAT2A	HGNC:6904	ENSG00000168906	P31153	S-adenosylmethionine synthase isoform type-2	gencc
BLK	HGNC:1057	ENSG00000136573	P51451	Tyrosine-protein kinase Blk	clinvar
TGFBR1	HGNC:11772	ENSG00000106799	P36897	TGF-beta receptor type-1	clinvar
TGFBR2	HGNC:11773	ENSG00000163513	P37173	TGF-beta receptor type-2	clinvar
ACTA2	HGNC:130	ENSG00000107796	P62736	Actin, aortic smooth muscle	clinvar
LCTL	HGNC:15583	ENSG00000188501	Q6UWM7	Lactase-like protein	gwas
CDKN2A	HGNC:1787	ENSG00000147889	P42771	Cyclin-dependent kinase inhibitor 2A	gwas
CDKN2B	HGNC:1788	ENSG00000147883	P42772	Cyclin-dependent kinase 4 inhibitor B	gwas
ROBO4	HGNC:17985	ENSG00000154133	Q8WZ75	Roundabout homolog 4	clinvar
COL16A1	HGNC:2193	ENSG00000084636	Q07092	Collagen alpha-1(XVI) chain	gwas
ANKRD44	HGNC:25259	ENSG00000065413	Q8N8A2	Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B	gwas
PEF1	HGNC:30009	ENSG00000162517	Q9UBV8	Peflin	gwas
RAD21-AS1	HGNC:32158	ENSG00000253327		RAD21 antisense RNA 1	gwas
AARD	HGNC:33842	ENSG00000205002	Q4LEZ3	Alanine- and arginine-rich domain-containing protein	gwas
CDKN2B-AS1	HGNC:34341	ENSG00000240498		CDKN2B and CDKN2A antisense cis and trans regulatory RNA 1	gwas
GATA4	HGNC:4173	ENSG00000136574	P43694	Transcription factor GATA-4	clinvar
SMAD3	HGNC:6769	ENSG00000166949	P84022	SMAD family member 3	clinvar
NOTCH1	HGNC:7881	ENSG00000148400	P46531	Neurogenic locus notch homolog protein 1	clinvar
ADGRB2	HGNC:944	ENSG00000121753	O60241	Adhesion G protein-coupled receptor B2	gwas
RBBP8	HGNC:9891	ENSG00000101773	Q99708	DNA endonuclease RBBP8	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FBN1	Fibrillin-1	Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues.
SMAD6	SMAD family member 6	Transforming growth factor-beta superfamily receptors signaling occurs through the Smad family of intracellular mediators.
EFEMP2	EGF-containing fibulin-like extracellular matrix protein 2	Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation…
ARIH1	E3 ubiquitin-protein ligase ARIH1	E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3.
MAT2A	S-adenosylmethionine synthase isoform type-2	Catalyzes the formation of S-adenosylmethionine from methionine and ATP.
BLK	Tyrosine-protein kinase Blk	Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling.
TGFBR1	TGF-beta receptor type-1	Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3.
TGFBR2	TGF-beta receptor type-2	Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3.
ACTA2	Actin, aortic smooth muscle	Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
LCTL	Lactase-like protein	Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens.
CDKN2A	Cyclin-dependent kinase inhibitor 2A	Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6.
CDKN2B	Cyclin-dependent kinase 4 inhibitor B	Interacts strongly with CDK4 and CDK6.
ROBO4	Roundabout homolog 4	Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning.
COL16A1	Collagen alpha-1(XVI) chain	Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology.
ANKRD44	Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B	Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.
PEF1	Peflin	Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium.
GATA4	Transcription factor GATA-4	Transcriptional activator that binds to the consensus sequence 5’-AGATAG-3’ and plays a key role in cardiac development and function.
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.
NOTCH1	Neurogenic locus notch homolog protein 1	Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination.
ADGRB2	Adhesion G protein-coupled receptor B2	Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions.
RBBP8	DNA endonuclease RBBP8	Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway.

Protein-family classification

Druggable: 6 · Difficult: 6 · Unknown: 12 · Druggable fraction: 0.25

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
Kinase	3	3.5×	0.189
Scaffold/PPI	4	2.9×	0.189
Antibody/Immunoglobulin	1	1.2×	0.876
GPCR	1	1.0×	0.876
Other/Unknown	12	0.9×	0.876
Transcription factor	2	0.7×	0.876
Enzyme (other)	1	0.5×	0.876

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FBN1	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom
SMAD6	Other/Unknown	no		SMAD_dom, MAD_homology1_Dwarfin-type, SMAD_FHA_dom_sf
EFEMP2	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom
ARIH1	Transcription factor	no	2.3.2.27	Znf_RING, IBR_dom, Znf_RING/FYVE/PHD
MAT2A	Enzyme (other)	yes	2.5.1.6	S-AdoMet_synthetase, S-AdoMet_synt_N, S-AdoMet_synt_central
BLK	Kinase	yes	2.7.10.2	Prot_kinase_dom, SH2, Ser-Thr/Tyr_kinase_cat_dom
TGFBR1	Kinase	yes	2.7.10.2	TGFB_receptor, Activin_recp, Prot_kinase_dom
TGFBR2	Kinase	yes	2.7.10.2	TGFB_receptor, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
ACTA2	Other/Unknown	no		Actin, Actin_CS, Actin/actin-like_CS
LCTL	Other/Unknown	no		Glyco_hydro_1, GH_hydrolase_sf, Glyco_hydro_1_AS
CDKN2A	Scaffold/PPI	no		Ankyrin_rpt-contain_sf, Ank_Repeat/CDKN_Inhibitor, Tumor_suppres_ARF
CDKN2B	Scaffold/PPI	no		Ankyrin_rpt, Ankyrin_rpt-contain_sf, Ank_Repeat/CDKN_Inhibitor
ROBO4	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
COL16A1	Other/Unknown	no		Collagen, ConA-like_dom_sf, TSPN-like_N
ANKRD44	Scaffold/PPI	no		Ankyrin_rpt, Ankyrin_rpt-contain_sf
PEF1	Other/Unknown	no		EF_hand_dom, EF-hand-dom_pair, EF_Hand_1_Ca_BS
RAD21-AS1	Other/Unknown	no
AARD	Other/Unknown	no		FAM167_domain
CDKN2B-AS1	Other/Unknown	no
GATA4	Transcription factor	no		Znf_GATA, GATA_N, Znf_NHR/GATA
SMAD3	Other/Unknown	no		SMAD_dom, MAD_homology1_Dwarfin-type, SMAD_FHA_dom_sf
NOTCH1	Scaffold/PPI	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Notch_dom
ADGRB2	GPCR	yes		GPS, GPCR_2_secretin-like, TSP1_rpt
RBBP8	Other/Unknown	no		Ctp1_C, CtIP_N, RBBP8-like

Expression context

Cohort genes with no expression data: 0.

22 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)	24
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	3
tibia	3
tendon of biceps brachii	2
cortical plate	2
left lobe of thyroid gland	2
right lobe of thyroid gland	2
saphenous vein	2
visceral pleura	2
buccal mucosa cell	2
cartilage tissue	2
decidua	1
skin of hip	1
synovial joint	1
metanephric glomerulus	1
renal glomerulus	1
right lung	1
ascending aorta	1
stromal cell of endometrium	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FBN1	275	ubiquitous	marker	synovial joint, skin of hip, decidua
SMAD6	277	ubiquitous	marker	right lung, renal glomerulus, metanephric glomerulus
EFEMP2	289	ubiquitous	marker	stromal cell of endometrium, tendon of biceps brachii, ascending aorta
ARIH1	292	ubiquitous	marker	secondary oocyte, oocyte, cortical plate
MAT2A	295	ubiquitous	marker	body of pancreas, right lobe of thyroid gland, left lobe of thyroid gland
BLK	145	tissue_specific	marker	spleen, male germ line stem cell (sensu Vertebrata) in testis, lymph node
TGFBR1	269	ubiquitous	marker	saphenous vein, tibia, visceral pleura
TGFBR2	289	ubiquitous	marker	pericardium, tibia, parietal pleura
ACTA2	289	ubiquitous	marker	cauda epididymis, blood vessel layer, saphenous vein
LCTL	123	broad	yes	sural nerve, tibial nerve, buccal mucosa cell
CDKN2A	220	ubiquitous	marker	parotid gland, cervix squamous epithelium, pituitary gland
CDKN2B	219	ubiquitous	marker	jejunal mucosa, colonic mucosa, lower esophagus mucosa
ROBO4	254	broad	marker	lower lobe of lung, apex of heart, omental fat pad
COL16A1	282	ubiquitous	marker	tibia, cartilage tissue, left ovary
ANKRD44	248	ubiquitous	marker	monocyte, leukocyte, bone marrow cell
PEF1	285	ubiquitous	marker	left lobe of thyroid gland, right lobe of thyroid gland, thyroid gland
RAD21-AS1	143		marker	buccal mucosa cell, male germ line stem cell (sensu Vertebrata) in testis, sperm
AARD	116	broad	marker	left testis, testis, right testis
CDKN2B-AS1	169	ubiquitous	marker	mucosa of transverse colon, rectum, transverse colon
GATA4	85	broad	marker	right atrium auricular region, heart left ventricle, duodenum
SMAD3	288	ubiquitous	marker	tendon of biceps brachii, cartilage tissue, hindlimb stylopod muscle
NOTCH1	272	ubiquitous	marker	ventricular zone, colonic epithelium, visceral pleura
ADGRB2	202	ubiquitous	yes	right frontal lobe, cortical plate, prefrontal cortex
RBBP8	273	ubiquitous	marker	choroid plexus epithelium, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 13.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CDKN2A	9,311
NOTCH1	7,411
SMAD3	6,440
TGFBR2	5,777
GATA4	4,994
TGFBR1	4,828
MAT2A	3,924
FBN1	3,640
CDKN2B	3,431
RBBP8	3,235

Intra-cohort edges

A	B	Sources
ANKRD44	NOTCH1	biogrid_interaction, intact
CDKN2A	CDKN2B	biogrid_interaction
COL16A1	FBN1	string_interaction
EFEMP2	FBN1	intact, string_interaction
FBN1	TGFBR1	string_interaction
FBN1	TGFBR2	string_interaction
NOTCH1	SMAD3	string_interaction
NOTCH1	TGFBR1	biogrid_interaction
SMAD3	TGFBR1	string_interaction
SMAD3	TGFBR2	string_interaction
SMAD6	TGFBR1	string_interaction
SMAD6	TGFBR2	string_interaction
TGFBR1	TGFBR2	string_interaction

Structural data

PDB: 13 · AlphaFold-only: 9 · No structure: 2

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MAT2A	P31153	59
TGFBR1	P36897	44
NOTCH1	P46531	29
TGFBR2	P37173	22
SMAD3	P84022	12
FBN1	P35555	11
ARIH1	Q9Y4X5	10
CDKN2A	P42771	5
RBBP8	Q99708	4
GATA4	P43694	3
EFEMP2	O95967	1
PEF1	Q9UBV8	1
ADGRB2	O60241	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ACTA2	P62736	95.43
LCTL	Q6UWM7	92.71
ANKRD44	Q8N8A2	90.57
CDKN2B	P42772	90.12
BLK	P51451	81.89
AARD	Q4LEZ3	78.24
SMAD6	O43541	72.34
ROBO4	Q8WZ75	57.67
COL16A1	Q07092	49.60

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 196. Enrichment computed across 24 evidence-associated genes (16 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 16 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Loss of Function of TGFBR1 in Cancer	3	428.2×	2e-06	TGFBR1, TGFBR2, SMAD3
Loss of Function of SMAD2/3 in Cancer	3	356.9×	2e-06	TGFBR1, TGFBR2, SMAD3
Signaling by TGF-beta Receptor Complex in Cancer	3	356.9×	2e-06	TGFBR1, TGFBR2, SMAD3
SMAD2/3 Phosphorylation Motif Mutants in Cancer	3	356.9×	2e-06	TGFBR1, TGFBR2, SMAD3
TGFBR1 KD Mutants in Cancer	3	356.9×	2e-06	TGFBR1, TGFBR2, SMAD3
TGF-beta receptor signaling activates SMADs	4	81.6×	4e-06	FBN1, TGFBR1, TGFBR2, SMAD3
Signaling by TGFB family members	5	36.0×	5e-06	SMAD6, TGFBR1, TGFBR2, CDKN2B, SMAD3
Signaling by TGF-beta Receptor Complex	4	50.1×	2e-05	TGFBR1, TGFBR2, CDKN2B, SMAD3
NOTCH4 Intracellular Domain Regulates Transcription	3	107.1×	6e-05	ACTA2, SMAD3, NOTCH1
Loss of Function of TGFBR2 in Cancer	2	475.8×	1e-04	TGFBR1, TGFBR2
TGFBR2 Kinase Domain Mutants in Cancer	2	475.8×	1e-04	TGFBR1, TGFBR2
Downregulation of TGF-beta receptor signaling	3	76.5×	1e-04	TGFBR1, TGFBR2, SMAD3
Signaling by TGFBR3	3	69.1×	1e-04	TGFBR1, TGFBR2, SMAD3
TGFBR1 LBD Mutants in Cancer	2	356.9×	2e-04	TGFBR1, TGFBR2
TGFBR3 regulates TGF-beta signaling	2	178.4×	7e-04	TGFBR1, TGFBR2
Formation of definitive endoderm	2	89.2×	0.003	GATA4, SMAD3
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	2	84.0×	0.003	TGFBR1, TGFBR2
Deubiquitination	3	23.3×	0.003	TGFBR1, TGFBR2, SMAD3
Signaling by NOTCH4	2	62.1×	0.005	ACTA2, SMAD3
RNA Polymerase II Transcription	5	7.0×	0.005	SMAD6, BLK, CDKN2A, CDKN2B, SMAD3
G1 Phase	2	49.2×	0.007	CDKN2A, CDKN2B
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	2	46.0×	0.007	CDKN2B, SMAD3
Oncogene Induced Senescence	2	42.0×	0.009	CDKN2A, CDKN2B
Molecules associated with elastic fibres	2	38.6×	0.009	FBN1, EFEMP2
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	2	38.6×	0.009	CDKN2B, SMAD3
Evasion of Oncogene Induced Senescence Due to p14ARF Defects	1	713.8×	0.010	CDKN2A
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects	1	713.8×	0.010	CDKN2A
Gene expression (Transcription)	5	5.6×	0.010	SMAD6, BLK, CDKN2A, CDKN2B, SMAD3
Transcriptional regulation by RUNX3	2	34.0×	0.010	CDKN2A, SMAD3
Cyclin D associated events in G1	2	29.1×	0.014	CDKN2A, CDKN2B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 21 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
aortic valve morphogenesis	4	82.3×	7e-05	SMAD6, TGFBR2, GATA4, NOTCH1
cellular response to transforming growth factor beta stimulus	4	52.6×	2e-04	FBN1, TGFBR1, ACTA2, SMAD3
heart looping	4	51.0×	2e-04	TGFBR2, GATA4, SMAD3, NOTCH1
activin receptor signaling pathway	3	126.7×	2e-04	TGFBR1, TGFBR2, SMAD3
SMAD protein signal transduction	3	104.7×	3e-04	SMAD6, TGFBR2, SMAD3
endoderm development	3	89.2×	3e-04	GATA4, SMAD3, NOTCH1
negative regulation of ossification	3	89.2×	3e-04	SMAD6, SMAD3, NOTCH1
embryonic cranial skeleton morphogenesis	3	83.0×	4e-04	TGFBR1, TGFBR2, SMAD3
glomerular mesangial cell development	2	401.2×	4e-04	ACTA2, NOTCH1
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	2	401.2×	4e-04	TGFBR1, TGFBR2
transforming growth factor beta receptor signaling pathway	4	30.3×	4e-04	TGFBR1, TGFBR2, CDKN2B, SMAD3
ventricular septum morphogenesis	3	61.7×	6e-04	TGFBR1, TGFBR2, NOTCH1
atrioventricular node development	2	267.5×	8e-04	GATA4, NOTCH1
positive regulation of SMAD protein signal transduction	3	54.7×	8e-04	TGFBR1, TGFBR2, SMAD3
trophoblast cell migration	2	229.3×	0.001	TGFBR1, SMAD3
transdifferentiation	2	200.6×	0.001	GATA4, SMAD3
positive regulation of epithelial to mesenchymal transition	3	45.4×	0.001	TGFBR1, TGFBR2, SMAD3
epithelial to mesenchymal transition	3	44.6×	0.001	TGFBR1, TGFBR2, NOTCH1
cardiac ventricle morphogenesis	2	178.3×	0.001	GATA4, NOTCH1
coronary artery morphogenesis	2	178.3×	0.001	TGFBR1, NOTCH1
positive regulation of extracellular matrix assembly	2	178.3×	0.001	TGFBR1, SMAD3
negative regulation of osteoblast differentiation	3	42.2×	0.001	SMAD6, SMAD3, NOTCH1
embryonic foregut morphogenesis	2	160.5×	0.001	GATA4, SMAD3
response to cholesterol	2	160.5×	0.001	TGFBR1, TGFBR2
cardiac left ventricle morphogenesis	2	145.9×	0.002	TGFBR2, NOTCH1
somatic stem cell division	2	145.9×	0.002	CDKN2A, NOTCH1
regulation of stem cell proliferation	2	133.8×	0.002	TGFBR2, NOTCH1
wound healing	3	32.5×	0.002	TGFBR1, GATA4, SMAD3
negative regulation of cell population proliferation	5	10.0×	0.002	SMAD6, CDKN2A, CDKN2B, SMAD3, NOTCH1
atrioventricular valve morphogenesis	2	114.6×	0.002	TGFBR2, NOTCH1

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Nicardipine, Sodium Chloride.

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 4 · Phased (≥1): 5 · Undrugged: 19

Druggability breadth: 10 of 24 evidence-associated genes (42%) 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
BLK	AFATINIB
TGFBR1	MOMELOTINIB
TGFBR2	PONATINIB
SMAD3	FLUORESCEIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BLK	62	4
TGFBR1	28	4
TGFBR2	22	4
SMAD3	2	4
NOTCH1	1	2
FBN1	0	0
SMAD6	0	0
EFEMP2	0	0
ARIH1	0	0
MAT2A	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
AFATINIB	4	BLK
FEDRATINIB	4	BLK, TGFBR2
AXITINIB	4	BLK
SORAFENIB	4	BLK, TGFBR2
NERATINIB	4	BLK
IBRUTINIB	4	BLK
ENTRECTINIB	4	BLK
BELUMOSUDIL	4	BLK
AFATINIB DIMALEATE	4	BLK
VANDETANIB	4	BLK
NILOTINIB	4	BLK
BOSUTINIB	4	BLK
BRIGATINIB	4	BLK
ACALABRUTINIB	4	BLK
ZANUBRUTINIB	4	BLK
TIRABRUTINIB	4	BLK
RITLECITINIB	4	BLK
PAZOPANIB	4	BLK, TGFBR2
NINTEDANIB	4	BLK, TGFBR1
SUNITINIB	4	BLK
DASATINIB	4	BLK, TGFBR1, TGFBR2
ERLOTINIB	4	BLK
QUIZARTINIB	4	BLK
CRIZOTINIB	4	BLK, TGFBR1
MIDOSTAURIN	4	BLK
GEFITINIB	4	BLK
IMATINIB	4	BLK
MOMELOTINIB	4	TGFBR1
DABRAFENIB	4	TGFBR1, TGFBR2
PONATINIB	4	TGFBR2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

Symbol	Assays	Type breakdown
TGFBR1	541	Binding:516, Functional:13, ADMET:12
BLK	483	Binding:477, ADMET:4, Functional:2
TGFBR2	188	Binding:188
MAT2A	64	Binding:64
SMAD3	24	Binding:18, Functional:6
NOTCH1	23	Binding:19, ADMET:4
PEF1	8	Binding:8
GATA4	5	Binding:5
CDKN2A	2	Binding:2
ANKRD44	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ARIH1	2.3.2.27, 2.3.2.31	RING-type E3 ubiquitin transferase, RBR-type E3 ubiquitin transferase
MAT2A	2.5.1.6	methionine adenosyltransferase
BLK	2.7.10.2	non-specific protein-tyrosine kinase
TGFBR1	2.7.10.2, 2.7.11.30	non-specific protein-tyrosine kinase, receptor protein serine/threonine kinase
TGFBR2	2.7.10.2	non-specific protein-tyrosine kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
BLK	483
TGFBR1	541
TGFBR2	188

Pharmacogenomics

Cohort genes with a PharmGKB record: 24; 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)
AFATINIB	4	BLK
FEDRATINIB	4	BLK, TGFBR2
AXITINIB	4	BLK
SORAFENIB	4	BLK, TGFBR2
NERATINIB	4	BLK
IBRUTINIB	4	BLK
ENTRECTINIB	4	BLK
BELUMOSUDIL	4	BLK
AFATINIB DIMALEATE	4	BLK
VANDETANIB	4	BLK
NILOTINIB	4	BLK
BOSUTINIB	4	BLK
BRIGATINIB	4	BLK
ACALABRUTINIB	4	BLK
ZANUBRUTINIB	4	BLK
TIRABRUTINIB	4	BLK
RITLECITINIB	4	BLK
PAZOPANIB	4	BLK, TGFBR2
NINTEDANIB	4	BLK, TGFBR1
SUNITINIB	4	BLK
DASATINIB	4	BLK, TGFBR1, TGFBR2
ERLOTINIB	4	BLK
QUIZARTINIB	4	BLK
CRIZOTINIB	4	BLK, TGFBR1
MIDOSTAURIN	4	BLK
GEFITINIB	4	BLK
IMATINIB	4	BLK
MOMELOTINIB	4	TGFBR1
DABRAFENIB	4	TGFBR1, TGFBR2
PONATINIB	4	TGFBR2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	BLK, TGFBR1, TGFBR2, SMAD3
B	Phased (≥1) drug, not yet approved	1	NOTCH1
C	Druggable family + PDB, no drug	2	MAT2A, ADGRB2
D	Druggable family + AlphaFold only, no drug	1	ROBO4
E	Difficult family or no structure, no drug	16	FBN1, SMAD6, EFEMP2, ARIH1, ACTA2, LCTL, CDKN2A, CDKN2B, COL16A1, ANKRD44 (+6 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
SMAD6	0	TGFBR1
FBN1	0	—
EFEMP2	0	—
ARIH1	0	—
MAT2A	64	—
ACTA2	0	—
LCTL	0	—
CDKN2A	2	—
CDKN2B	0	—
ROBO4	0	—
COL16A1	0	—
ANKRD44	1	—
PEF1	8	—
RAD21-AS1	0	—
AARD	0	—
CDKN2B-AS1	0	—
GATA4	5	—
ADGRB2	0	—
RBBP8	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 57.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	51
PHASE4	2
PHASE1	2
PHASE2/PHASE3	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00339053	PHASE4	UNKNOWN	Immunonutrition and Thoracoabdominal Aorta Aneurysm Repair
NCT02291718	PHASE4	COMPLETED	Thoracoabdominal Arortic CTA Study
NCT00604799	PHASE2/PHASE3	COMPLETED	VALOR: The Talent Thoracic Stent Graft System Clinical Study
NCT07483177	PHASE1/PHASE2	NOT_YET_RECRUITING	HEART: Pilot Randomized Controlled Trial
NCT01033214	PHASE1	UNKNOWN	ENTRUST - TAArget® Thoracic Stent Graft Clinical Trial
NCT03998631	PHASE1	UNKNOWN	Comparison of Carbon Dioxide and Saline Flush to Saline Flush in TEVAR and TAVI Procedures to Reduce Cerebral Ischemia
NCT00583817	Not specified	ENROLLING_BY_INVITATION	Endovascular Treatment of Thoracic Aortic Disease
NCT03142074	Not specified	RECRUITING	Biomechanical and Microstructural Properties of Ascending Aortic Aneurysms
NCT03440697	Not specified	ACTIVE_NOT_RECRUITING	Pathogenetic Basis of Aortopathy and Aortic Valve Disease
NCT04197648	Not specified	RECRUITING	Effects of Exercise on Thoracic Aneurysms
NCT04246463	Not specified	RECRUITING	Terumo Aortic Global Endovascular Registry
NCT04523909	Not specified	RECRUITING	Trajectory of Neuroinflammatory Markers in Cerebrospinal Fluid Prior to and After Thoracic Aortic Surgery
NCT04747626	Not specified	RECRUITING	B-SAFER: Branched Stented Anastomosis Frozen Elephant Trunk Repair
NCT05143138	Not specified	ACTIVE_NOT_RECRUITING	Real-World Data Collection of the GORE® VIABAHN® VBX Balloon Expandable Endoprosthesis When Used as a Bridging Stent With Branched and Fenestrated Endografts in the Treatment of Aortic Aneurysms Involving the Renal-Mesenteric Arteries
NCT05155956	Not specified	ACTIVE_NOT_RECRUITING	Cerebral Hemodynamics and Microemboli During Placement of Relay®Branch Thoracic Stent-Graft System
NCT05309707	Not specified	RECRUITING	ENDOBARC-S Study: Endovascular Branched Stent-grafts for Aortic ARCh Pathologies in Spain
NCT05395598	Not specified	RECRUITING	Incidence of Major Complication in Case of Thoracic Aortic Aneurysm
NCT05639400	Not specified	ACTIVE_NOT_RECRUITING	Thoraflex Hybrid and Relay Extension Post-Approval Study
NCT05777460	Not specified	RECRUITING	Mid- and Long-term Outcomes of Custom-made Aortic Devices
NCT06028789	Not specified	RECRUITING	AOrtic Surgery: Systemic Inflammatory Response Versus Sepsis
NCT06094127	Not specified	ACTIVE_NOT_RECRUITING	Zenith Thoracic Alpha (ZTA) Post-Market Data Collection
NCT06336213	Not specified	RECRUITING	Antibacterial Tactics Based on Presepsin Level in Thoracic Aorta Surgery Patients
NCT06353607	Not specified	RECRUITING	Genetic Architecture of Acute Aortic Syndromes and Aortic Aneurysm.
NCT06377033	Not specified	RECRUITING	Using the EHR to Advance Genomic Medicine Across a Diverse Health System
NCT06507865	Not specified	RECRUITING	Post Market Registry for GORE® TAG® Thoracic Branch Endoprosthesis
NCT06639243	Not specified	ACTIVE_NOT_RECRUITING	Quick Yielding Modified Short-Distance Fenestration Technique for the Treatment of Complex Aortic Arch Diseases: a Multicenter Single-Arm Objective Performance Criteria Trial(QYM-Tech Study)
NCT06786351	Not specified	NOT_YET_RECRUITING	Impact of Right Atrial Occlusion on TEVAR Outcomes
NCT06786754	Not specified	ENROLLING_BY_INVITATION	Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases
NCT06854588	Not specified	NOT_YET_RECRUITING	POCUS Screening for TAA in Hypertensive Patients in the ED
NCT06882967	Not specified	RECRUITING	Active Thoracic Compromised Distal LANding in TEvar
NCT07391293	Not specified	RECRUITING	Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.
NCT07564375	Not specified	NOT_YET_RECRUITING	MBA Early Feasibility Study
NCT00111176	Not specified	COMPLETED	STARZ-TX2 Clinical Study: Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft
NCT00413231	Not specified	COMPLETED	Valor II: The Valiant Thoracic Stent Graft System Clinical Study
NCT00435942	Not specified	COMPLETED	Phase II Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft
NCT00549315	Not specified	UNKNOWN	Clinical Study of Thoracic Aortic Aneurysm Exclusion
NCT00597870	Not specified	COMPLETED	Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic Lesions
NCT00805948	Not specified	TERMINATED	Post-Approval Clinical Study of the Talent Thoracic Stent Graft to Treat Thoracic Aortic Aneurysms (THRIVE)
NCT01082172	Not specified	COMPLETED	South American Thoracic Stent-Graft Study
NCT01327742	Not specified	APPROVED_FOR_MARKETING	Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
IOPAMIDOL	4	1
SPIRONOLACTONE	4	1
CARBON DIOXIDE	3	1

Cohort genes: FBN1, SMAD6, EFEMP2, ARIH1, MAT2A, BLK, TGFBR1, TGFBR2, ACTA2, LCTL, CDKN2A, CDKN2B, ROBO4, COL16A1, ANKRD44, PEF1, RAD21-AS1, AARD, CDKN2B-AS1, GATA4, SMAD3, NOTCH1, ADGRB2, RBBP8
Drugs: Iopamidol, Spironolactone, Carbon Dioxide