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Heart conduction disease

disease
On this page

Also known as cardiac conduction diseasecardiac conduction disorderconduction disease of heartdisease of cardiac conductiondisorder of cardiac conduction

Summary

Heart conduction disease (MONDO:0000992) is a disease (an umbrella term covering 10 Mondo subtypes) caused by variants in EMD and TTR, with 10 cohort genes (20 GWAS associations across 14 studies). The dominant Reactome pathway is Muscle contraction (3 cohort genes).

At a glance

  • Causal genes: EMD (GenCC Strong), TTR (GenCC Strong)
  • Umbrella term: 10 Mondo subtypes
  • Cohort genes: 10
  • GWAS associations: 20

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameheart conduction disease
Mondo IDMONDO:0000992
DOIDDOID:10273
SNOMED CT44808001
Is cancer (heuristic)no

Also known as: cardiac conduction disease · cardiac conduction disorder · conduction disease of heart · disease of cardiac conduction · disorder of cardiac conduction

Data availability: 20 GWAS associations (14 studies) · 10 GenCC gene-disease records.

Disease family

An umbrella term covering 10 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › heart conduction disease

Related subtypes (33): endocardium disorder, pericardium disorder, cardiac tuberculosis, hypertensive heart disease, heart valve disorder, cardiomyopathy, coronary artery disorder, heart failure, congenital heart disease, heart aneurysm, rheumatic heart disease, cardiac rhythm disease, white forelock with malformations, atrioventricular defect-blepharophimosis-radial and anal defect syndrome, microcephaly-cardiac defect-lung malsegmentation syndrome, PHACE syndrome, microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type, cardiac anomalies-heterotaxy syndrome, polyvalvular heart disease syndrome, Thomas syndrome, 22q11.2 deletion syndrome, myocardial rupture, heart neoplasm, aortopulmonary window, cor biloculare, inflammation of heart layer, myocardial disorder, carcinoid heart disease, omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome, coronary microvascular disorder, cardiac ventricle disorder, cardiogenetic disease, cardiogenic shock

Subtypes (10): short QT syndrome, atrioventricular block, sinoatrial node disorder, Wolff-Parkinson-White syndrome, postural orthostatic tachycardia syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, progressive familial heart block, sinoatrial block, NKX2.5-related congenital, conduction and myopathic heart disease

Genetics & variants

GWAS landscape

20 GWAS associations across 14 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
chr4:1135285632e-16C0.12
rs348838281e-14CCDC141C0.06
chr3:387425386e-14C0.1
chr4:1144447462e-13T0.05
rs5635870661e-11XIRP2G3.55
rs8793890932e-11LINC01644 - LINC00898G2.37
rs1867371312e-11LINC02680 - MKXC3.67
rs5486299653e-11LINC03048G2.45
rs1420138274e-11CEP83G2.39
chr4:238115572e-10T0.09
chr10:1038676861e-09T0.08
chr2:634785282e-09T1.3
chr22:314209151e-08T2.02
chrX:243247722e-08A1.84
chr13:938121422e-08T0.08
chr20:626247392e-08C1.96
chr3:327404233e-08G2.62
chr10:261410794e-08G3.04
rs766857893e-07CYCSP6 - RNU6-827P?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90475952Verma A202465,081337,411Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477905Verma A202417,28889,795Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480164Verma A202417,28889,795Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473563UK Biobank Whole-Genome Sequencing Consortium202513,319445,121Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667863UK Biobank Whole-Genome Sequencing Consortium202513,319445,121Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90436099Zhou W20186,959380,919Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90477904Verma A20245,35849,249Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477921Verma A20241,201446,591Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652075Liu TY2025989208,597Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90480160Verma A2024439120,321Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic18

MAF distribution

BucketVariants
common (>=0.05)2
low_freq (0.01-0.05)0
rare (<0.01)5
unknown12

Functional consequences

ConsequenceCount
unknown12
intron_variant3
intergenic_variant3
missense_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
chr4:1135285632e-16Tier 4: intronic/intergenic
rs348838282178905448C>A,T0.132missense_variantCCDC1411e-14Tier 1: coding
chr3:387425386e-14Tier 4: intronic/intergenic
chr4:1144447460.2552e-13Tier 4: intronic/intergenic
rs5635870662167113995G>A,C0intron_variantXIRP21e-11Tier 4: intronic/intergenic
rs8793890932247586023G>A0.001intergenic_variantLINC01644 - LINC008982e-11Tier 4: intronic/intergenic
rs1867371311027638983C>T0intergenic_variantLINC02680 - MKX2e-11Tier 4: intronic/intergenic
rs5486299651781378194G>A,C0.001intron_variantLINC030483e-11Tier 4: intronic/intergenic
rs1420138271294323419G>A0.001intron_variantCEP834e-11Tier 4: intronic/intergenic
chr4:238115572e-10Tier 4: intronic/intergenic
chr10:1038676861e-09Tier 4: intronic/intergenic
chr2:634785282e-09Tier 4: intronic/intergenic
chr22:314209151e-08Tier 4: intronic/intergenic
chrX:243247722e-08Tier 4: intronic/intergenic
chr13:938121422e-08Tier 4: intronic/intergenic
chr20:626247392e-08Tier 4: intronic/intergenic
chr3:327404233e-08Tier 4: intronic/intergenic
chr10:261410794e-08Tier 4: intronic/intergenic
rs76685789278805841A>Gintergenic_variantCYCSP6 - RNU6-827P3e-07Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 67 · Orphanet: 16 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

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.

GeneClassificationInheritanceDiseaseRecords
EMDStrongX-linkedheart conduction disease5
TTRStrongAutosomal dominantheart conduction disease8
CLCA2ModerateAutosomal dominantheart conduction disease
TBX5ModerateAutosomal dominantheart conduction disease6
ACTN2LimitedAutosomal dominantheart conduction disease10
ANK2LimitedAutosomal dominantheart conduction disease11
FLNCLimitedAutosomal dominantheart conduction disease14
GJA5LimitedAutosomal dominantheart conduction disease6
KCNK17LimitedUnknownheart conduction disease
TBX3LimitedAutosomal dominantheart conduction disease5

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
TBX3Orphanet:3138Ulnar-mammary syndrome
TBX5Orphanet:101016Romano-Ward syndrome
TBX5Orphanet:392Holt-Oram syndrome
TTROrphanet:597939Euthyroid dysprealbuminemic hyperthyroxinemia
TTROrphanet:85447ATTRV30M amyloidosis
TTROrphanet:85451ATTRV122I amyloidosis
ACTN2Orphanet:154Familial isolated dilated cardiomyopathy
ACTN2Orphanet:708129Autosomal recessive ACTN2-related distal myopathy
ACTN2Orphanet:708133Autosomal dominant ACTN2-related distal myopathy
EMDOrphanet:98863X-linked Emery-Dreifuss muscular dystrophy
FLNCOrphanet:171445Muscle filaminopathy
FLNCOrphanet:63273FLNC-related handgrip and calf weakness-distal myopathy
FLNCOrphanet:75249Familial isolated restrictive cardiomyopathy
GJA5Orphanet:3303Tetralogy of Fallot
GJA5Orphanet:334Hereditary atrial fibrillation
ANK2Orphanet:101016Romano-Ward syndrome

Cohort genes → proteins

10 cohort genes, 10 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence10

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
TBX3HGNC:11602ENSG00000135111O15119T-box transcription factor TBX3gencc
TBX5HGNC:11604ENSG00000089225Q99593T-box transcription factor TBX5gencc
TTRHGNC:12405ENSG00000118271P02766Transthyretingencc
KCNK17HGNC:14465ENSG00000124780Q96T54Potassium channel subfamily K member 17gencc
ACTN2HGNC:164ENSG00000077522P35609Alpha-actinin-2gencc
CLCA2HGNC:2016ENSG00000137975Q9UQC9Calcium-activated chloride channel regulator 2gencc
EMDHGNC:3331ENSG00000102119P50402Emeringencc
FLNCHGNC:3756ENSG00000128591Q14315Filamin-Cgencc
GJA5HGNC:4279ENSG00000265107P36382Gap junction alpha-5 proteingencc
ANK2HGNC:493ENSG00000145362Q01484Ankyrin-2gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
TBX3T-box transcription factor TBX3Transcriptional repressor involved in developmental processes.
TBX5T-box transcription factor TBX5DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation.
TTRTransthyretinThyroid hormone-binding protein.
KCNK17Potassium channel subfamily K member 17K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization.
ACTN2Alpha-actinin-2F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
CLCA2Calcium-activated chloride channel regulator 2Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion.
EMDEmerinStabilizes and promotes the formation of a nuclear actin cortical network.
FLNCFilamin-CMuscle-specific filamin, which plays a central role in sarcomere assembly and organization.
GJA5Gap junction alpha-5 proteinOne gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
ANK2Ankyrin-2Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells.

Protein-family classification

Druggable: 2 · Difficult: 3 · Unknown: 5 · Druggable fraction: 0.2

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
Ion channel111.2×0.431
Antibody/Immunoglobulin12.9×0.561
Scaffold/PPI11.7×0.561
Transcription factor21.6×0.561
Other/Unknown50.9×0.756

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
TBX3Transcription factornoTF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
TBX5Transcription factornoTF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
TTROther/UnknownnoTransthyretin/HIU_hydrolase, Transthyretin/HIU_hydrolase_d, Thyroxine_BS
KCNK17Ion channelyes2pore_dom_K_chnl_TASK, 2pore_dom_K_chnl, K_chnl_dom
ACTN2Other/UnknownnoActinin_actin-bd_CS, CH_dom, Spectrin_repeat
CLCA2Other/UnknownnoVWF_A, CLCA_chordata, CLCA_N
EMDOther/UnknownnoLEM_dom, LEM/LEM-like_dom_sf, LEM_emerin
FLNCAntibody/ImmunoglobulinyesFilamin/ABP280_rpt, Actinin_actin-bd_CS, CH_dom
GJA5Other/UnknownnoConnexin, Connexin40, Connexin_N
ANK2Scaffold/PPInoDeath_dom, ZU5_dom, Ankyrin_rpt

Expression context

Cohort genes with no expression data: 0.

10 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)10
unknown0

Top tissues across cohort

TissueCohort genes
hindlimb stylopod muscle2
adrenal cortex1
right adrenal gland1
right adrenal gland cortex1
buccal mucosa cell1
cardiac muscle of right atrium1
tendon of biceps brachii1
choroid plexus epithelium1
right lobe of liver1
type B pancreatic cell1
ascending aorta1
descending thoracic aorta1
thoracic aorta1
skeletal muscle tissue of biceps brachii1
skeletal muscle tissue of rectus abdominis1
gingiva1
gingival epithelium1
tongue squamous epithelium1
left ovary1
left uterine tube1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
TBX3243ubiquitousmarkerright adrenal gland cortex, right adrenal gland, adrenal cortex
TBX5129broadmarkertendon of biceps brachii, cardiac muscle of right atrium, buccal mucosa cell
TTR185broadmarkerchoroid plexus epithelium, type B pancreatic cell, right lobe of liver
KCNK17140tissue_specificmarkerascending aorta, thoracic aorta, descending thoracic aorta
ACTN2226broadmarkerskeletal muscle tissue of rectus abdominis, skeletal muscle tissue of biceps brachii, hindlimb stylopod muscle
CLCA2176broadmarkergingival epithelium, gingiva, tongue squamous epithelium
EMD284ubiquitousmarkerleft ovary, left uterine tube, popliteal artery
FLNC255ubiquitousmarkergastrocnemius, hindlimb stylopod muscle, tibialis anterior
GJA5190broadmarkerplacenta, right coronary artery, left coronary artery
ANK2281ubiquitousmarkersubstantia nigra pars compacta, lateral nuclear group of thalamus, substantia nigra pars reticulata

Protein interactions among cohort

Intra-cohort edges: 4.

Hub genes (top 10 by interactor count)

SymbolInteractor count
ANK26,423
TTR4,528
EMD3,503
FLNC3,174
ACTN22,781
TBX32,379
TBX52,250
CLCA21,559
GJA51,476
KCNK17521

Intra-cohort edges

ABSources
EMDTBX3biogrid_interaction
GJA5TBX3string_interaction
GJA5TBX5string_interaction
TBX3TBX5string_interaction

Structural data

PDB: 7 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
TTRP02766462
ACTN2P3560916
FLNCQ1431514
ANK2Q0148411
EMDP504026
TBX5Q995934
TBX3O151191

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
CLCA2Q9UQC986.87
KCNK17Q96T5477.25
GJA5P3638270.35

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 67. Enrichment computed across 10 evidence-associated genes (10 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 10 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Muscle contraction323.1×0.016TBX5, KCNK17, ACTN2
TWIK-related alkaline pH activated K+ channel (TALK)1571.0×0.059KCNK17
Defective visual phototransduction due to STRA6 loss of function1380.7×0.059TTR
Cardiac conduction221.8×0.060TBX5, KCNK17
Tandem pore domain potassium channels195.2×0.069KCNK17
CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling187.8×0.069ACTN2
YAP1- and WWTR1 (TAZ)-stimulated gene expression176.1×0.069TBX5
Depolymerization of the Nuclear Lamina176.1×0.069EMD
Cell-extracellular matrix interactions167.2×0.069FLNC
Physiological factors167.2×0.069TBX5
Initiation of Nuclear Envelope (NE) Reformation160.1×0.069EMD
Phase 4 - resting membrane potential160.1×0.069KCNK17
Ras activation upon Ca2+ influx through NMDA receptor157.1×0.069ACTN2
Unblocking of NMDA receptors, glutamate binding and activation154.4×0.069ACTN2
Negative regulation of NMDA receptor-mediated neuronal transmission154.4×0.069ACTN2
The canonical retinoid cycle in rods (twilight vision)151.9×0.069TTR
Nephrin family interactions147.6×0.069ACTN2
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane147.6×0.069EMD
Long-term potentiation147.6×0.069ACTN2
Nuclear Envelope Breakdown145.7×0.069EMD
Neuronal System28.8×0.069KCNK17, ACTN2
Cardiogenesis142.3×0.071TBX5
Interaction between L1 and Ankyrins136.8×0.077ANK2
Developmental Biology34.3×0.077TBX3, TBX5, ANK2
Striated Muscle Contraction130.9×0.086ACTN2
Gap junction assembly129.3×0.087GJA5
Assembly and cell surface presentation of NMDA receptors125.4×0.095ACTN2
Retinoid metabolism and transport124.8×0.095TTR
Post NMDA receptor activation events120.4×0.107ACTN2
RHOD GTPase cycle120.4×0.107EMD

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 10 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
bundle of His cell to Purkinje myocyte communication by electrical coupling21685.2×6e-05TBX5, GJA5
atrioventricular bundle cell differentiation21123.5×6e-05TBX3, TBX5
regulation of atrial cardiac muscle cell action potential21123.5×6e-05GJA5, ANK2
negative regulation of glomerular filtration2842.6×9e-05TTR, GJA5
SA node cell action potential2561.7×2e-04GJA5, ANK2
atrial septum development2421.3×2e-04GJA5, ANK2
forelimb morphogenesis2421.3×2e-04TBX3, TBX5
regulation of atrial cardiac muscle cell membrane depolarization2374.5×3e-04TBX5, GJA5
atrial septum morphogenesis2259.3×5e-04TBX5, GJA5
ventricular cardiac muscle cell action potential2198.3×8e-04GJA5, ANK2
regulation of cardiac muscle contraction2177.4×9e-04GJA5, ANK2
regulation of ventricular cardiac muscle cell membrane repolarization2168.5×9e-04GJA5, ANK2
cell fate specification2105.3×0.002TBX3, TBX5
ventricular septum development299.1×0.002TBX5, GJA5
embryonic forelimb morphogenesis299.1×0.002TBX3, TBX5
ventricular septum morphogenesis286.4×0.003TBX3, GJA5
embryonic limb morphogenesis280.2×0.003TBX5, GJA5
mitral valve development11685.2×0.003GJA5
septum primum development11685.2×0.003GJA5
atrial ventricular junction remodeling11685.2×0.003GJA5
positive regulation of cell communication by chemical coupling11685.2×0.003GJA5
protein localization to T-tubule11685.2×0.003ANK2
mesoderm morphogenesis11685.2×0.003TBX3
actin filament uncapping11685.2×0.003ACTN2
cell migration involved in coronary vasculogenesis11685.2×0.003TBX5
atrial cardiac muscle cell to AV node cell communication by electrical coupling11685.2×0.003GJA5
Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling11685.2×0.003GJA5
atrial cardiac muscle cell to AV node cell communication11685.2×0.003ANK2
SA node cell to atrial cardiac muscle cell communication11685.2×0.003ANK2
regulation of Purkinje myocyte action potential11685.2×0.003GJA5

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 9

Druggability breadth: 5 of 10 evidence-associated genes (50%) 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
TTRTRICLABENDAZOLE

Top cohort targets by molecule count

SymbolMoleculesMax phase
TTR294
TBX300
TBX500
KCNK1700
ACTN200
CLCA200
EMD00
FLNC00
GJA500
ANK200

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
TRICLABENDAZOLE4TTR
AMLEXANOX4TTR
TOLCAPONE4TTR
DICLOFENAC4TTR
LEVOTHYROXINE4TTR
TAFAMIDIS4TTR
BENZIODARONE4TTR
BITHIONOL4TTR
BENZBROMARONE4TTR
ACORAMIDIS4TTR
GEMFIBROZIL4TTR
MECLOFENAMIC ACID4TTR
DASATINIB4TTR
DEXTROTHYROXINE4TTR
TRICLOSAN4TTR
DIFLUNISAL4TTR
CAFFEIC ACID3TTR
RESVERATROL3TTR
EPIGALOCATECHIN GALLATE3TTR
DIACEREIN3TTR
TOLFENAMIC ACID2TTR
LUTEOLIN2TTR
FLUFENAMIC ACID2TTR
XANTHOHUMOL2TTR
GENISTEIN2TTR
NIFLUMIC ACID2TTR
DAIDZEIN2TTR
PTEROSTILBENE2TTR
ACECLOFENAC2TTR

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

SymbolAssaysType breakdown
TTR423Binding:391, Functional:32
KCNK172Binding:2
TBX51Binding:1
EMD1Binding:1

Cohort genes with high screening signal

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

SymbolChEMBL assays
TTR423

Pharmacogenomics

Cohort genes with a PharmGKB record: 10; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

29 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)
TRICLABENDAZOLE4TTR
AMLEXANOX4TTR
TOLCAPONE4TTR
DICLOFENAC4TTR
LEVOTHYROXINE4TTR
TAFAMIDIS4TTR
BENZIODARONE4TTR
BITHIONOL4TTR
BENZBROMARONE4TTR
ACORAMIDIS4TTR
GEMFIBROZIL4TTR
MECLOFENAMIC ACID4TTR
DASATINIB4TTR
DEXTROTHYROXINE4TTR
TRICLOSAN4TTR
DIFLUNISAL4TTR
CAFFEIC ACID3TTR
RESVERATROL3TTR
EPIGALOCATECHIN GALLATE3TTR
DIACEREIN3TTR
TOLFENAMIC ACID2TTR
LUTEOLIN2TTR
FLUFENAMIC ACID2TTR
XANTHOHUMOL2TTR
GENISTEIN2TTR
NIFLUMIC ACID2TTR
DAIDZEIN2TTR
PTEROSTILBENE2TTR
ACECLOFENAC2TTR

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1TTR
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug1FLNC
DDruggable family + AlphaFold only, no drug1KCNK17
EDifficult family or no structure, no drug7TBX3, TBX5, ACTN2, CLCA2, EMD, GJA5, ANK2

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
TBX30—
TBX51—
KCNK172—
ACTN20—
CLCA20—
EMD1—
FLNC0—
GJA50—
ANK20—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

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
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Sources 68

This page pulls from 68 datasets indexed by BioBTree:

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