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Atlas / Disease / Coronary aneurysm

Coronary aneurysm

disease
On this page

Also known as aneurysm of coronary vesselsaneurysmal lesion of coronary arteryarteriovenous aneurysm of coronary vesselscoronary artery aneurysm

Summary

Coronary aneurysm (MONDO:0006714) is a disease with 29 cohort genes (31 GWAS associations across 8 studies) and 10 clinical trials. Top therapeutic interventions include rivaroxaban and warfarin.

At a glance

  • Cohort genes: 29
  • GWAS associations: 31
  • Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namecoronary aneurysm
Mondo IDMONDO:0006714
EFOEFO:1000881
MeSHD003323
DOIDDOID:3362
ICD-11777924269
SNOMED CT50570003
UMLSC0010051
MedGen3622
MedDRA10002348
Is cancer (heuristic)no

Also known as: aneurysm of coronary vessels · aneurysmal lesion of coronary artery · arteriovenous aneurysm of coronary vessels · coronary artery aneurysm

Data availability: 31 GWAS associations (8 studies) · 1 HPO phenotype.

Disease family

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

Related subtypes (11): coronary vasospasm, postoperative ventricular dysfunction, 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

31 GWAS associations across 8 studies. Top hits map to 28 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs169212097e-09NEBLG32.22
rs170768968e-09TUBA3C - PSPC1P1G21.03
rs171366272e-08KCNN2A12.6
rs60170062e-08PPIAP21 - RNU6-743PA5
rs177829048e-08SETBP1T45.95
rs117930492e-07ZNF618A
rs8991622e-07TIFAB - SLC25A48A3.2
rs122109194e-07MDGA1C14.02
rs78715795e-07MAN1B1C2.8
rs129004137e-07MESP2C8.7
rs101274561e-06FHAD1-AS1, FHAD1, EFHD2-AS1T16
rs18425792e-06COL24A1?8.62
rs24495652e-06DOCK2G2.3
rs66276152e-06MAGEA3-DTC9.98
rs127992643e-06NAV2?22.89
rs168378583e-06CPNE4?22.89
rs173492583e-06CSMD1?22.89
rs128100163e-06TMTC2?22.74
rs101851783e-06MYO3B?22.89
rs107624374e-06UNC5BG2.5
rs359320344e-06Y_RNA - LINC00882C0.2
rs19890514e-06RN7SKP226 - LINC00824C2.2
rs79023345e-06CAMK1D?6.77
rs120233775e-06CSMD2?7.37
rs116247046e-06NRXN3?10.44
rs12337546e-06MACROD2?10.44
rs12933867e-06TSHZ2?6.37
rs78497828e-06GRIN3A?4.03
rs49051388e-06CCDC197?12.76
rs125904379e-06TTC6?4.01

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90013538Hoggart C20212000Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.
GCST003192Lin YJ2015760Genetic variants in PLCB4/PLCB1 as susceptibility loci for coronary artery aneurysm formation in Kawasaki disease in Han Chinese in Taiwan.
GCST001878Lin MT2013640A genome-wide association analysis identifies novel susceptibility loci for coronary arterial lesions in patients with Kawasaki disease.
GCST007192Kwon YC2018330Identification of the TIFAB Gene as a Susceptibility Locus for Coronary Artery Aneurysm in Patients with Kawasaki Disease.
GCST90624820Kim JJ2024230Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease.
GCST002026Kim JJ2013170Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.
GCST003560Kuo HC2016110Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.
GCST90624821Kim JJ2024100Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR0
Tier 3: regulatory1
Tier 4: intronic/intergenic29

MAF distribution

BucketVariants
common (>=0.05)15
low_freq (0.01-0.05)8
rare (<0.01)8
unknown0

Functional consequences

ConsequenceCount
intron_variant24
intergenic_variant4
regulatory_region_variant1
non_coding_transcript_exon_variant1
missense_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs169212091020879174C>A,G,T0.007intron_variantNEBL7e-09Tier 4: intronic/intergenic
rs170768961319181923T>A,C0.014intergenic_variantTUBA3C - PSPC1P18e-09Tier 4: intronic/intergenic
rs171366275114463289C>A,T0.008intron_variantKCNN22e-08Tier 4: intronic/intergenic
rs60170062043305980G>A0.04intergenic_variantPPIAP21 - RNU6-743P2e-08Tier 4: intronic/intergenic
rs177829041844733745G>A0.003intron_variantSETBP18e-08Tier 4: intronic/intergenic
rs117930499114011589A>G,T0.05intron_variantZNF6182e-07Tier 4: intronic/intergenic
rs8991625135459219G>A0.141regulatory_region_variantTIFAB - SLC25A482e-07Tier 3: regulatory
rs12210919637677736T>C0.021intron_variantMDGA14e-07Tier 4: intronic/intergenic
rs78715799137096078T>C,G0.15intron_variantMAN1B15e-07Tier 4: intronic/intergenic
rs129004131589777808A>G,T0.062intron_variantMESP27e-07Tier 4: intronic/intergenic
rs10127456115327376G>A0.014non_coding_transcript_exon_variantFHAD1-AS1, FHAD1, EFHD2-AS11e-06Tier 4: intronic/intergenic
rs1842579185823399C>G,T0.051intron_variantCOL24A12e-06Tier 4: intronic/intergenic
rs24495655169708658A>C,G,T0.39intron_variantDOCK22e-06Tier 4: intronic/intergenic
rs6627615X152626667T>C0.02intron_variantMAGEA3-DT2e-06Tier 4: intronic/intergenic
rs127992641119958686G>A0.007intron_variantNAV23e-06Tier 4: intronic/intergenic
rs168378583131812484T>C0.007intron_variantCPNE43e-06Tier 4: intronic/intergenic
rs1734925884983502G>A0.007intron_variantCSMD13e-06Tier 4: intronic/intergenic
rs128100161282914584G>C0.007intron_variantTMTC23e-06Tier 4: intronic/intergenic
rs101851782170499764G>A,C,T0.007missense_variantMYO3B3e-06Tier 1: coding
rs107624371071298712A>G0.16intron_variantUNC5B4e-06Tier 4: intronic/intergenic
rs359320343106543458T>C0.11intron_variantY_RNA - LINC008824e-06Tier 4: intronic/intergenic
rs19890518128281872T>A,C0.43intergenic_variantRN7SKP226 - LINC008244e-06Tier 4: intronic/intergenic
rs79023341012603942C>A,G,T0.455intron_variantCAMK1D5e-06Tier 4: intronic/intergenic
rs12023377133685660T>C0.072intron_variantCSMD25e-06Tier 4: intronic/intergenic
rs116247041478319734A>C0.027intron_variantNRXN36e-06Tier 4: intronic/intergenic
rs12337542015572166C>A,G,T0.027intron_variantMACROD26e-06Tier 4: intronic/intergenic
rs12933862053180814A>G,T0.185intron_variantTSHZ27e-06Tier 4: intronic/intergenic
rs78497829101664982C>A,G,T0.05intron_variantGRIN3A8e-06Tier 4: intronic/intergenic
rs49051381494000011G>A,T0.017intron_variantCCDC1978e-06Tier 4: intronic/intergenic
rs125904371437977887A>G,T0.05intergenic_variantTTC69e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
SETBP1Orphanet:436151Intellectual disability-expressive aphasia-facial dysmorphism syndrome
SETBP1Orphanet:798Schinzel-Giedion syndrome
MESP2Orphanet:2311Autosomal recessive spondylocostal dysostosis
DOCK2Orphanet:447737Combined immunodeficiency due to DOCK2 deficiency
MAN1B1Orphanet:397941MAN1B1-CDG
MAN1B1Orphanet:88616Autosomal recessive non-syndromic intellectual disability

Cohort genes → proteins

29 cohort genes, 29 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only29

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SSTR1HGNC:11330ENSG00000139874P30872Somatostatin receptor type 1gwas
TUBA3CHGNC:12408ENSG00000198033P0DPH7Tubulin alpha-3C chaingwas
UNC5BHGNC:12568ENSG00000107731Q8IZJ1Netrin receptor UNC5Bgwas
TSHZ2HGNC:13010ENSG00000182463Q9NRE2Teashirt homolog 2gwas
CSMD1HGNC:14026ENSG00000183117Q96PZ7CUB and sushi domain-containing protein 1gwas
SETBP1HGNC:15573ENSG00000152217Q9Y6X0SET-binding proteingwas
MYO3BHGNC:15576ENSG00000071909Q8WXR4Myosin-IIIbgwas
NAV2HGNC:15997ENSG00000166833Q8IVL1Neuron navigator 2gwas
MACROD2HGNC:16126ENSG00000172264A1Z1Q3ADP-ribose glycohydrolase MACROD2gwas
GRIN3AHGNC:16767ENSG00000198785Q8TCU5Glutamate receptor ionotropic, NMDA 3Agwas
NEBLHGNC:16932ENSG00000078114O76041Nebulettegwas
MDGA1HGNC:19267ENSG00000112139Q8NFP4MAM domain-containing glycosylphosphatidylinositol anchor protein 1gwas
CSMD2HGNC:19290ENSG00000121904Q7Z408CUB and sushi domain-containing protein 2gwas
CAMK1DHGNC:19341ENSG00000183049Q8IU85Calcium/calmodulin-dependent protein kinase type 1Dgwas
CCDC197HGNC:19860ENSG00000175699Q8NCU1Uncharacterized protein CCDC197gwas
COL24A1HGNC:20821ENSG00000171502Q17RW2Collagen alpha-1(XXIV) chaingwas
CPNE4HGNC:2317ENSG00000196353Q96A23Copine-4gwas
DCANP1HGNC:24459ENSG00000251380Q8TF63Dendritic cell nuclear protein 1gwas
TMTC2HGNC:25440ENSG00000179104Q8N394Protein O-mannosyl-transferase TMTC2gwas
FHAD1HGNC:29408ENSG00000142621B1AJZ9Forkhead-associated domain-containing protein 1gwas
ZNF618HGNC:29416ENSG00000157657Q5T7W0Zinc finger protein 618gwas
MESP2HGNC:29659ENSG00000188095Q0VG99Mesoderm posterior protein 2gwas
DOCK2HGNC:2988ENSG00000134516Q92608Dedicator of cytokinesis protein 2gwas
TIFABHGNC:34024ENSG00000255833Q6ZNK6TRAF-interacting protein with FHA domain-containing protein Bgwas
GRK5HGNC:4544ENSG00000198873P34947G protein-coupled receptor kinase 5gwas
FOXA1HGNC:5021ENSG00000129514P55317Hepatocyte nuclear factor 3-alphagwas
KCNN2HGNC:6291ENSG00000080709Q9H2S1Small conductance calcium-activated potassium channel protein 2gwas
MAN1B1HGNC:6823ENSG00000177239Q9UKM7Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidasegwas
NRXN3HGNC:8010ENSG00000021645Q9HDB5Neurexin-3-betagwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SSTR1Somatostatin receptor type 1Receptor for somatostatin with higher affinity for somatostatin-14 than -28.
TUBA3CTubulin alpha-3C chainTubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.
UNC5BNetrin receptor UNC5BReceptor for netrin required for axon guidance.
TSHZ2Teashirt homolog 2Probable transcriptional regulator involved in developmental processes.
CSMD1CUB and sushi domain-containing protein 1Potential suppressor of squamous cell carcinomas.
MYO3BMyosin-IIIbProbable actin-based motor with a protein kinase activity.
NAV2Neuron navigator 2Possesses 3’ to 5’ helicase activity and exonuclease activity.
MACROD2ADP-ribose glycohydrolase MACROD2Removes ADP-ribose from aspartate and glutamate residues in proteins bearing a single ADP-ribose moiety.
GRIN3AGlutamate receptor ionotropic, NMDA 3AComponent of a non-conventional N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with low calcium permeability and low voltage-dependent block by Mg(2+).
NEBLNebuletteBinds to actin and plays an important role in the assembly of the Z-disk.
MDGA1MAM domain-containing glycosylphosphatidylinositol anchor protein 1Required for radial migration of cortical neurons in the superficial layer of the neocortex.
CAMK1DCalcium/calmodulin-dependent protein kinase type 1DCalcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and res…
COL24A1Collagen alpha-1(XXIV) chainMay participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.
CPNE4Copine-4Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.
DCANP1Dendritic cell nuclear protein 1Binds with and transactivates the corticotropin-releasing hormone (CRH) promoter.
TMTC2Protein O-mannosyl-transferase TMTC2Transfers mannosyl residues to the hydroxyl group of serine or threonine residues.
FHAD1Forkhead-associated domain-containing protein 1Regulator of sperm motility and spermatocyte meiosis.
ZNF618Zinc finger protein 618Regulates UHRF2 function as a specific 5-hydroxymethylcytosine (5hmC) reader by regulating its chromatin localization.
MESP2Mesoderm posterior protein 2Transcription factor with important role in somitogenesis.
DOCK2Dedicator of cytokinesis protein 2Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines.
TIFABTRAF-interacting protein with FHA domain-containing protein BInhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA.
GRK5G protein-coupled receptor kinase 5Serine/threonine kinase that phosphorylates preferentially the activated forms of a variety of G-protein-coupled receptors (GPCRs).
FOXA1Hepatocyte nuclear factor 3-alphaTranscription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues.
KCNN2Small conductance calcium-activated potassium channel protein 2Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calci…
MAN1B1Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidaseInvolved in glycoprotein quality control targeting of misfolded glycoproteins for degradation.
NRXN3Neurexin-3-betaNeuronal cell surface protein that may be involved in cell recognition and cell adhesion.

Protein-family classification

Druggable: 11 · Difficult: 6 · Unknown: 12 · Druggable fraction: 0.38

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.

FamilyGenesFoldFDR
Complement218.5×0.047
Kinase32.9×0.384
Ion channel13.9×0.589
Antibody/Immunoglobulin22.0×0.589
Scaffold/PPI21.2×0.759
Transcription factor41.1×0.759
Enzyme (other)20.8×0.799
GPCR10.8×0.799
Other/Unknown120.7×0.960

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SSTR1GPCRyesGPCR_Rhodpsn, Somatstn_rcpt, Somatstn_rcpt_1
TUBA3COther/UnknownnoTubulin, Alpha_tubulin, Tubulin_FtsZ_GTPase
UNC5BAntibody/ImmunoglobulinyesDeath_dom, TSP1_rpt, ZU5_dom
TSHZ2Transcription factornoHD, Znf_C2H2_type, Teashirt_fam
CSMD1ComplementyesSushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf
SETBP1Other/UnknownnoAT_hook_DNA-bd_motif
MYO3BKinaseyesIQ_motif_EF-hand-BS, Prot_kinase_dom, Myosin_head_motor_dom-like
NAV2Other/UnknownnoCH_dom, AAA+_ATPase, P-loop_NTPase
MACROD2Enzyme (other)yes3.1.1.106Macro_dom, Macro_dom-like
GRIN3AOther/UnknownnoIontro_rcpt_C, Iono_Glu_rcpt_met, ANF_lig-bd_rcpt
NEBLScaffold/PPInoNebulin_repeat, SH3_domain, Nebulette_SH3
MDGA1Antibody/ImmunoglobulinyesMAM_dom, Ig_sub2, Ig_sub
CSMD2ComplementyesSushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf
CAMK1DKinaseyes2.7.11.17Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
CCDC197Other/UnknownnoCFAP_domain-containing
COL24A1Other/UnknownnoFib_collagen_C, Collagen, ConA-like_dom_sf
CPNE4Other/UnknownnoC2_dom, VWF_A, Copine_C
DCANP1Other/Unknownno
TMTC2Other/UnknownnoTPR-like_helical_dom_sf, TMTC_DUF1736, TPR_rpt
FHAD1Other/UnknownnoFHA_dom, SMAD_FHA_dom_sf, CC-FHA_domain
ZNF618Transcription factornoRNaseH-like_sf, Znf_C2H2_type, Znf_C2H2_sf
MESP2Transcription factornobHLH_dom, HLH_DNA-bd_sf, Mesogenin/MesP
DOCK2Scaffold/PPInoSH3_domain, ARM-type_fold, DOCK
TIFABOther/UnknownnoFHA_dom, SMAD_FHA_dom_sf, TIFA
GRK5Kinaseyes2.7.11.16GPCR_kinase, Prot_kinase_dom, AGC-kinase_C
FOXA1Transcription factornoFork_head_dom, Fork-head_N, TF_fork_head_CS_1
KCNN2Ion channelyesCaM-bd_dom, K_chnl_dom, K_chnl_Ca-activ_SK
MAN1B1Enzyme (other)yes3.2.1.113Glyco_hydro_47, 6hp_glycosidase-like_sf, Seven-hairpin_glycosidases
NRXN3Other/UnknownnoLaminin_G, Neurexin-like, ConA-like_dom_sf

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)29
unknown0

Top tissues across cohort

TissueCohort genes
buccal mucosa cell6
middle temporal gyrus4
male germ line stem cell (sensu Vertebrata) in testis4
ventricular zone3
primordial germ cell in gonad3
Brodmann (1909) area 462
stromal cell of endometrium2
left testis2
right testis2
mucosa of paranasal sinus2
caput epididymis2
corpus epididymis2
Brodmann (1909) area 232
endothelial cell2
right uterine tube2
oocyte2
pancreatic ductal cell2
secondary oocyte2
jejunal mucosa1
adult organism1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SSTR1173broadmarkerstromal cell of endometrium, jejunal mucosa, Brodmann (1909) area 46
TUBA3C215tissue_specificmarkerright testis, left testis, adult organism
UNC5B266ubiquitousmarkerinferior vagus X ganglion, mucosa of paranasal sinus, subthalamic nucleus
TSHZ2230broadmarkerbuccal mucosa cell, corpus epididymis, caput epididymis
CSMD1179broadmarkerBrodmann (1909) area 23, middle temporal gyrus, primary visual cortex
SETBP1280ubiquitousmarkerventricular zone, buccal mucosa cell, caput epididymis
MYO3B81tissue_specificmarkerbuccal mucosa cell, primordial germ cell in gonad, corpus epididymis
NAV2275ubiquitousmarkerblood vessel layer, cartilage tissue, cauda epididymis
MACROD2214ubiquitousmarkerendothelial cell, buccal mucosa cell, epithelial cell of pancreas
GRIN3A149tissue_specificmarkerBrodmann (1909) area 46, middle temporal gyrus, male germ line stem cell (sensu Vertebrata) in testis
NEBL282broadmarkerheart right ventricle, myocardium, cranial nerve II
MDGA1223broadyescerebellar hemisphere, cardiac muscle of right atrium, cerebellar cortex
CSMD2166broadmarkerbuccal mucosa cell, ventricular zone, kidney epithelium
CAMK1D260ubiquitousmarkermiddle temporal gyrus, parietal lobe, postcentral gyrus
CCDC19765tissue_specificyesmale germ line stem cell (sensu Vertebrata) in testis, right testis, left testis
COL24A1169broadmarkerBrodmann (1909) area 23, middle temporal gyrus, tibia
CPNE4182broadmarkerlateral nuclear group of thalamus, left ventricle myocardium, endothelial cell
DCANP137yesmale germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, granulocyte
TMTC2237ubiquitousmarkerventricular zone, corpus callosum, mucosa of paranasal sinus
FHAD1168broadmarkerright uterine tube, bronchial epithelial cell, bronchus
ZNF618222ubiquitousmarkersecondary oocyte, pancreatic ductal cell, oocyte
MESP2140tissue_specificyesprimordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, buccal mucosa cell
DOCK2216broadmarkerbone marrow cell, monocyte, mononuclear cell
TIFAB51tissue_specificmarkerpancreatic ductal cell, vermiform appendix, lymph node
GRK5270broadmarkersaphenous vein, pylorus, synovial joint
FOXA1149broadmarkerendometrium epithelium, olfactory segment of nasal mucosa, epithelium of bronchus
KCNN2213broadmarkersecondary oocyte, oocyte, right adrenal gland
MAN1B1268ubiquitousmarkerstromal cell of endometrium, right uterine tube, skin of leg
NRXN3231ubiquitousmarkercerebellar vermis, substantia nigra pars compacta, substantia nigra pars reticulata

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
FOXA14,346
TUBA3C3,682
DOCK22,278
MYO3B2,226
SETBP12,077
CAMK1D2,071
TMTC21,795
MAN1B11,682
NAV21,599
CSMD11,577

Intra-cohort edges

ABSources
DCANP1TIFABstring_interaction

Structural data

PDB: 13 · AlphaFold-only: 16 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
GRK5P3494723
KCNN2Q9H2S116
CAMK1DQ8IU857
DOCK2Q926086
MAN1B1Q9UKM76
FOXA1P553175
SSTR1P308724
MACROD2A1Z1Q34
GRIN3AQ8TCU53
MDGA1Q8NFP43
CSMD1Q96PZ71
NAV2Q8IVL11
NEBLO760411

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
TUBA3CP0DPH792.26
TMTC2Q8N39490.57
TIFABQ6ZNK689.68
CPNE4Q96A2387.42
CCDC197Q8NCU185.38
UNC5BQ8IZJ177.60
MYO3BQ8WXR475.00
FHAD1B1AJZ971.77
ZNF618Q5T7W065.15
NRXN3Q9HDB559.75
MESP2Q0VG9954.92
TSHZ2Q9NRE254.88
COL24A1Q17RW249.59
SETBP1Q9Y6X043.30
DCANP1Q8TF6336.60
CSMD2Q7Z408

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 134. Enrichment computed across 29 evidence-associated genes (14 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 14 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Defective MAN1B1 causes MRT151815.7×0.060MAN1B1
Sensory processing of sound244.1×0.060MYO3B, KCNN2
Assembly and cell surface presentation of NMDA receptors236.2×0.060TUBA3C, GRIN3A
Sensory processing of sound by outer hair cells of the cochlea229.1×0.069MYO3B, KCNN2
Acetylcholine inhibits contraction of outer hair cells1163.1×0.156KCNN2
Nef and signal transduction190.6×0.156DOCK2
Netrin mediated repulsion signals190.6×0.156UNC5B
Ca2+ activated K+ channels181.6×0.156KCNN2
Caspase activation via Dependence Receptors in the absence of ligand181.6×0.156UNC5B
Formation of axial mesoderm158.3×0.156FOXA1
Calnexin/calreticulin cycle151.0×0.156MAN1B1
Diseases associated with N-glycosylation of proteins145.3×0.156MAN1B1
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane138.8×0.156TUBA3C
Transport of connexons to the plasma membrane138.8×0.156TUBA3C
ER Quality Control Compartment (ERQC)138.8×0.156MAN1B1
Gap junction trafficking and regulation134.0×0.156TUBA3C
Gap junction trafficking134.0×0.156TUBA3C
Post-chaperonin tubulin folding pathway134.0×0.156TUBA3C
Netrin-1 signaling131.4×0.156UNC5B
Formation of tubulin folding intermediates by CCT/TriC130.2×0.156TUBA3C
N-glycan trimming in the ER and Calnexin/Calreticulin cycle130.2×0.156MAN1B1
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding129.1×0.156TUBA3C
Translation of Structural Proteins129.1×0.156MAN1B1
Formation of paraxial mesoderm129.1×0.156MESP2
Prefoldin mediated transfer of substrate to CCT/TriC128.1×0.156TUBA3C
MET activates PTK2 signaling127.2×0.156COL24A1
Activation of AMPK downstream of NMDARs127.2×0.156TUBA3C
Sensory Perception213.6×0.156MYO3B, KCNN2
Factors involved in megakaryocyte development and platelet production29.5×0.156TUBA3C, DOCK2
Asparagine N-linked glycosylation28.6×0.156TUBA3C, MAN1B1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 26 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
regulation of muscle organ development2432.1×3e-04DCANP1, TIFAB
learned vocalization behavior2432.1×3e-04DCANP1, TIFAB
negative regulation of saliva secretion2432.1×3e-04DCANP1, TIFAB
hard palate morphogenesis2432.1×3e-04DCANP1, TIFAB
mastication2324.1×4e-04DCANP1, TIFAB
negative regulation of relaxation of muscle2324.1×4e-04DCANP1, TIFAB
cochlea morphogenesis367.0×4e-04MYO3B, DCANP1, TIFAB
thorax and anterior abdomen determination2259.3×4e-04DCANP1, TIFAB
vestibulocochlear nerve formation2259.3×4e-04DCANP1, TIFAB
genitalia morphogenesis2259.3×4e-04DCANP1, TIFAB
auditory behavior2216.1×6e-04DCANP1, TIFAB
trigeminal nerve development2185.2×8e-04DCANP1, TIFAB
genitalia development2129.6×0.001DCANP1, TIFAB
craniofacial suture morphogenesis2129.6×0.001DCANP1, TIFAB
peristalsis2117.8×0.002DCANP1, TIFAB
prepulse inhibition286.4×0.003GRIN3A, MDGA1
regulation of systemic arterial blood pressure by baroreceptor feedback1648.1×0.013NAV2
glossopharyngeal nerve development1648.1×0.013NAV2
vagus nerve development1648.1×0.013NAV2
protein alpha-1,2-demannosylation1648.1×0.013MAN1B1
regulation of granulocyte chemotaxis1648.1×0.013CAMK1D
cochlea development236.0×0.013DCANP1, TIFAB
inner ear development228.8×0.018DCANP1, TIFAB
mesenchymal-epithelial cell signaling involved in prostate gland development1324.1×0.019FOXA1
alveolar secondary septum development1324.1×0.019FOXA1
regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator1324.1×0.019TIFAB
respiratory basal cell differentiation1324.1×0.019FOXA1
positive regulation of dopaminergic neuron differentiation1324.1×0.019FOXA1
cellular response to Thyroid stimulating hormone1324.1×0.019TIFAB
neuromuscular process controlling balance225.4×0.019DCANP1, TIFAB

Therapeutics

Drug target analysis

Approved (phase 4): 6 · Phase ≥3: 6 · Phased (≥1): 8 · Undrugged: 21

Druggability breadth: 13 of 29 evidence-associated genes (45%) 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.

SymbolExample approved molecule
SSTR1LANREOTIDE
TUBA3CCOLCHICINE
MYO3BSORAFENIB
GRIN3ADEXTROMETHORPHAN
CAMK1DFEDRATINIB
GRK5ENTRECTINIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
CAMK1D254
GRIN3A224
TUBA3C214
MYO3B104
GRK584
SSTR154
DOCK212
KCNN212
UNC5B00
TSHZ200

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
LANREOTIDE4SSTR1
PASIREOTIDE4SSTR1
COLCHICINE4TUBA3C
VINBLASTINE4TUBA3C
LEVOFLOXACIN ANHYDROUS4TUBA3C
DOCETAXEL4TUBA3C
NOSCAPINE4TUBA3C
VINBLASTINE SULFATE4TUBA3C
PACLITAXEL4TUBA3C
LEVOFLOXACIN4TUBA3C
VINORELBINE4TUBA3C
TIRBANIBULIN4TUBA3C
PODOFILOX4TUBA3C
VINCRISTINE4TUBA3C
DOCETAXEL ANHYDROUS4TUBA3C
SORAFENIB4MYO3B
BOSUTINIB4CAMK1D, MYO3B
NINTEDANIB4CAMK1D, MYO3B
SUNITINIB4CAMK1D, GRK5, MYO3B
DEXTROMETHORPHAN4GRIN3A
LEVORPHANOL4GRIN3A
AMANTADINE4GRIN3A
CHLORPROMAZINE4GRIN3A
KETAMINE4GRIN3A
MEMANTINE4GRIN3A
PROCYCLIDINE4GRIN3A
ORPHENADRINE4GRIN3A
FEDRATINIB4CAMK1D
RUXOLITINIB4CAMK1D
NERATINIB4CAMK1D

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

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

SymbolAssaysType breakdown
TUBA3C1,686Binding:1645, Functional:35, ADMET:6
CAMK1D276Binding:274, Functional:2
GRIN3A195Binding:183, Functional:7, ADMET:4, Toxicity:1
GRK5172Binding:171, Functional:1
SSTR1135Binding:121, Functional:13, ADMET:1
MYO3B129Binding:129
KCNN222Binding:22
DOCK211Binding:11
ZNF6186Binding:6
MACROD24Binding:2, Toxicity:2
CPNE41Binding:1
MAN1B11Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
MACROD23.1.1.106O-acetyl-ADP-ribose deacetylase
CAMK1D2.7.11.17Ca2+/calmodulin-dependent protein kinase
GRK52.7.11.16G-protein-coupled receptor kinase
MAN1B13.2.1.113, 3.2.1.209mannosyl-oligosaccharide 1,2-alpha-mannosidase, endoplasmic reticulum Man9GlcNAc2 1,2-alpha-mannosidase

Cohort genes with high screening signal

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

SymbolChEMBL assays
SSTR1135
TUBA3C1,686
MYO3B129
GRIN3A195
CAMK1D276
GRK5172

Pharmacogenomics

Cohort genes with a PharmGKB record: 29; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

SymbolCPIC guidelines
GRK51

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.

CompoundMax phaseCohort target (bioactivity)
LANREOTIDE4SSTR1
PASIREOTIDE4SSTR1
COLCHICINE4TUBA3C
VINBLASTINE4TUBA3C
LEVOFLOXACIN ANHYDROUS4TUBA3C
DOCETAXEL4TUBA3C
NOSCAPINE4TUBA3C
VINBLASTINE SULFATE4TUBA3C
PACLITAXEL4TUBA3C
LEVOFLOXACIN4TUBA3C
VINORELBINE4TUBA3C
TIRBANIBULIN4TUBA3C
PODOFILOX4TUBA3C
VINCRISTINE4TUBA3C
DOCETAXEL ANHYDROUS4TUBA3C
SORAFENIB4MYO3B
BOSUTINIB4CAMK1D, MYO3B
NINTEDANIB4CAMK1D, MYO3B
SUNITINIB4CAMK1D, GRK5, MYO3B
DEXTROMETHORPHAN4GRIN3A
LEVORPHANOL4GRIN3A
AMANTADINE4GRIN3A
CHLORPROMAZINE4GRIN3A
KETAMINE4GRIN3A
MEMANTINE4GRIN3A
PROCYCLIDINE4GRIN3A
ORPHENADRINE4GRIN3A
FEDRATINIB4CAMK1D
RUXOLITINIB4CAMK1D
NERATINIB4CAMK1D

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)6SSTR1, TUBA3C, MYO3B, GRIN3A, CAMK1D, GRK5
BPhased (≥1) drug, not yet approved2DOCK2, KCNN2
CDruggable family + PDB, no drug4CSMD1, MACROD2, MDGA1, MAN1B1
DDruggable family + AlphaFold only, no drug2UNC5B, CSMD2
EDifficult family or no structure, no drug15TSHZ2, SETBP1, NAV2, NEBL, CCDC197, COL24A1, CPNE4, DCANP1, TMTC2, FHAD1 (+5 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
UNC5B0—
TSHZ20—
CSMD10—
SETBP10—
NAV20—
MACROD24—
NEBL0—
MDGA10—
CSMD20—
CCDC1970—
COL24A10—
CPNE41—
DCANP10—
TMTC20—
FHAD10—
ZNF6186—
MESP20—
TIFAB0—
FOXA10—
MAN1B11—
NRXN30—

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified5
PHASE42
PHASE22
PHASE31

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05643651PHASE4RECRUITINGRivaroxaban for Children Aged Over 2 Years With Giant Coronary Artery Aneurysms After Kawasaki Disease
NCT06978439PHASE4RECRUITINGModel-informed Dose Optimization for Rivaroxaban in Children With Giant Coronary Artery Aneurysm After Kawasaki Disease
NCT00132080PHASE3COMPLETEDTrial of Pulse Steroid Therapy in Kawasaki Disease–Pediatric Heart Network
NCT01917721PHASE2ACTIVE_NOT_RECRUITINGDoxycycline Treatment to Prevent Progressive Coronary Artery Dilation in Children With Kawasaki Disease
NCT00000520PHASE2COMPLETEDPrevention of Coronary Aneurysms in Kawasaki Syndrome
NCT06993636Not specifiedRECRUITINGPharmacometrics Analysis of Rivaroxaban in Chinese Children Aged Over 2 Years
NCT02563626Not specifiedCOMPLETEDCoronary Artery Aneurysm Registry
NCT05183373Not specifiedUNKNOWNInflammation and Clotting Abnormalities in Aneurysmal Coronary Artery Disease
NCT06001957Not specifiedCOMPLETEDWhole Exome Sequencing in Coronary Artery Ectasia
NCT06057987Not specifiedUNKNOWNCoronary Artery Ectasia Database - Poland

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
RIVAROXABAN41
WARFARIN41
CHEMBL318376801

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 72

This page pulls from 72 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd11intactinterpromeddramedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot