Familial sick sinus syndrome

Summary

Familial sick sinus syndrome (MONDO:0012061) is a disease with 9 cohort genes (6 GWAS associations across 2 studies).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 9
• GWAS associations: 6
• ClinVar variants: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		11	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	familial sick sinus syndrome
Mondo ID	MONDO:0012061
MeSH	C563907
OMIM	608567
Orphanet	166282
ICD-11	1495462959
SNOMED CT	233913007
UMLS	C0340491
MedGen	573766
GARD	0013663
MedDRA	10040639
Is cancer (heuristic)	no

Also known as: familial sinus node dysfunction · hereditary sick sinus syndrome · sick sinus syndrome 1, autosomal recessive · SSS1

Data availability: 1 ClinVar variant · 6 GWAS associations (2 studies) · 2 GenCC gene-disease records · 2 cell lines.

Disease family

An umbrella term covering 4 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › heart conduction disease › sinoatrial node disorder › sick sinus syndrome › familial sick sinus syndrome

Subtypes (4): sick sinus syndrome 2, autosomal dominant, sinus node disease and myopia, sick sinus syndrome 1, sick sinus syndrome 4

Genetics & variants

GWAS landscape

6 GWAS associations across 2 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7689774	2e-15	PITX2 - LINC01438	T	1.21
rs11554495	9e-14	KRT8	A	1.62
rs12932445	8e-10	ZFHX3	C	1.16
rs35813871	6e-09	TTN	A	1.13
rs6795970	3e-08	SCN10A	A	1.12
rs34883828	1e-07	CCDC141	A	1.15

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST011360	Thorolfsdottir RB	2021	6,189	931,046	Genetic insight into sick sinus syndrome.
GCST001001	Holm H	2011	792	37,592	A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

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

MAF distribution

Bucket	Variants
common (>=0.05)	5
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
missense_variant	4
intergenic_variant	1
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7689774	4	110782354	G>T	0.201	intergenic_variant	PITX2 - LINC01438	2e-15	Tier 4: intronic/intergenic
rs11554495	12	52904798	C>A,G,T	0.016	missense_variant	KRT8	9e-14	Tier 1: coding
rs12932445	16	73035989	T>C	0.201	intron_variant	ZFHX3	8e-10	Tier 4: intronic/intergenic
rs35813871	2	178785681	G>A	0.266	missense_variant	TTN	6e-09	Tier 1: coding
rs6795970	3	38725184	A>G,T	0.358	missense_variant	SCN10A	3e-08	Tier 1: coding
rs34883828	2	178905448	C>A,T	0.152	missense_variant	CCDC141	1e-07	Tier 1: coding

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1348900	NM_000335.5(SCN5A):c.999-1G>A	SCN5A	Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 31 · Orphanet: 36 · 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.

Gene	Classification	Inheritance	Disease	Records
HCN4	Strong	Autosomal dominant	sick sinus syndrome 2, autosomal dominant	8
SCN5A	Strong	Autosomal recessive	sick sinus syndrome 1	23

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SCN5A	Orphanet:101016	Romano-Ward syndrome
SCN5A	Orphanet:130	Brugada syndrome
SCN5A	Orphanet:1344	Isolated atrial standstill
SCN5A	Orphanet:154	Familial isolated dilated cardiomyopathy
SCN5A	Orphanet:166282	Hereditary sick sinus syndrome
SCN5A	Orphanet:228140	Idiopathic ventricular fibrillation
SCN5A	Orphanet:334	Hereditary atrial fibrillation
SCN5A	Orphanet:871	Hereditary progressive cardiac conduction defect
HCN4	Orphanet:130	Brugada syndrome
HCN4	Orphanet:166282	Hereditary sick sinus syndrome
SCN10A	Orphanet:101016	Romano-Ward syndrome
SCN10A	Orphanet:130	Brugada syndrome
SCN10A	Orphanet:306577	Hereditary sodium channelopathy-related small fibers neuropathy
SCN10A	Orphanet:46348	Paroxysmal extreme pain disorder
SCN10A	Orphanet:88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy
SCN10A	Orphanet:90026	Primary erythromelalgia
TTN	Orphanet:140922	Titin-related limb-girdle muscular dystrophy R10
TTN	Orphanet:154	Familial isolated dilated cardiomyopathy
TTN	Orphanet:169186	Autosomal recessive centronuclear myopathy
TTN	Orphanet:178464	Hereditary myopathy with early respiratory failure
TTN	Orphanet:289377	Early-onset myopathy with fatal cardiomyopathy
TTN	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
TTN	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
TTN	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
TTN	Orphanet:324604	Classic multiminicore myopathy
TTN	Orphanet:334	Hereditary atrial fibrillation
TTN	Orphanet:466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
TTN	Orphanet:609	Tibial muscular dystrophy
TTN	Orphanet:707983	Early-onset autosomal recessive TTN-related distal myopathy
CCDC141	Orphanet:478	Kallmann syndrome
PITX2	Orphanet:334	Hereditary atrial fibrillation
PITX2	Orphanet:708	Peters anomaly
PITX2	Orphanet:782	Axenfeld-Rieger syndrome
PITX2	Orphanet:91481	Ring dermoid of cornea
PITX2	Orphanet:91483	Rieger anomaly
PITX2	Orphanet:98978	Axenfeld anomaly

Cohort genes → proteins

9 cohort genes, 8 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	7
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SCN5A	HGNC:10593	ENSG00000183873	Q14524	Sodium channel protein type 5 subunit alpha	gencc,clinvar
HCN4	HGNC:16882	ENSG00000138622	Q9Y3Q4	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4	gencc
SCN10A	HGNC:10582	ENSG00000185313	Q9Y5Y9	Sodium channel protein type 10 subunit alpha	gwas
TTN	HGNC:12403	ENSG00000155657	Q8WZ42	Titin	gwas
CCDC141	HGNC:26821	ENSG00000163492	Q6ZP82	Coiled-coil domain-containing protein 141	gwas
MIR297	HGNC:33691	ENSG00000215961		microRNA 297	gwas
KRT8	HGNC:6446	ENSG00000170421	P05787	Keratin, type II cytoskeletal 8	gwas
ZFHX3	HGNC:777	ENSG00000140836	Q15911	Zinc finger homeobox protein 3	gwas
PITX2	HGNC:9005	ENSG00000164093	Q99697	Pituitary homeobox 2	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SCN5A	Sodium channel protein type 5 subunit alpha	Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes.
HCN4	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4	Hyperpolarization-activated ion channel that are permeable to Na(+) and K(+) ions with very slow activation and inactivation.
SCN10A	Sodium channel protein type 10 subunit alpha	Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes.
TTN	Titin	Key component in the assembly and functioning of vertebrate striated muscles.
CCDC141	Coiled-coil domain-containing protein 141	Plays a critical role in cortical radial and GnRH neurons migration during brain development.
KRT8	Keratin, type II cytoskeletal 8	Required for the formation of KRT8/KRT18 filaments that are involved in ARHGEF40-mediated actin stress fiber formation and tensional force-induced stress fiber formation and reinforcement.
ZFHX3	Zinc finger homeobox protein 3	Transcriptional regulator which can act as an activator or a repressor.
PITX2	Pituitary homeobox 2	May play a role in myoblast differentiation.

Protein-family classification

Druggable: 5 · Difficult: 2 · Unknown: 2 · Druggable fraction: 0.56

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
Ion channel	3	37.2×	3e-04
Antibody/Immunoglobulin	1	3.2×	0.374
Kinase	1	3.1×	0.374
Transcription factor	2	1.8×	0.374
Other/Unknown	2	0.4×	0.992

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SCN5A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_channel_a5su
HCN4	Ion channel	yes		cNMP-bd_dom, K_chnl_volt-dep_EAG/ELK/ERG, Ion_trans_dom
SCN10A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_trans_assoc_dom
TTN	Kinase	yes	2.7.11.1	Prot_kinase_dom, Ig_sub2, Ig_sub
CCDC141	Antibody/Immunoglobulin	yes		Spectrin_repeat, Ig_sub2, Ig_sub
MIR297	Other/Unknown	no
KRT8	Other/Unknown	no		Keratin_II, IF_conserved, Keratin_2_head
ZFHX3	Transcription factor	no		HD, Matrin/U1-like-C_Znf_C2H2, Homeodomain-like_sf
PITX2	Transcription factor	no		HD, OAR_dom, Homeodomain-like_sf

Expression context

Cohort genes with no expression data: 0.

6 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)	9
unknown	0

Top tissues across cohort

Tissue	Cohort genes
heart left ventricle	2
right atrium auricular region	2
biceps brachii	2
apex of heart	1
cardiac ventricle	1
cardiac atrium	1
tibialis anterior	1
diaphragm	1
olfactory bulb	1
type B pancreatic cell	1
gluteal muscle	1
skeletal muscle tissue of biceps brachii	1
adrenal tissue	1
endometrium	1
gastrocnemius	1
monocyte	1
duodenum	1
endometrium epithelium	1
mucosa of transverse colon	1
buccal mucosa cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SCN5A	161	broad	yes	apex of heart, heart left ventricle, cardiac ventricle
HCN4	86	tissue_specific	yes	tibialis anterior, right atrium auricular region, cardiac atrium
SCN10A	21		marker	type B pancreatic cell, olfactory bulb, diaphragm
TTN	223	broad	marker	biceps brachii, gluteal muscle, skeletal muscle tissue of biceps brachii
CCDC141	149	broad	marker	heart left ventricle, adrenal tissue, right atrium auricular region
MIR297	38		yes	endometrium, gastrocnemius, monocyte
KRT8	159	ubiquitous	marker	mucosa of transverse colon, endometrium epithelium, duodenum
ZFHX3	274	ubiquitous	marker	saphenous vein, buccal mucosa cell, synovial joint
PITX2	166	broad	marker	gingiva, biceps brachii, gingival epithelium

Protein interactions among cohort

Intra-cohort edges: 3.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TTN	4,237
KRT8	3,915
PITX2	2,389
SCN5A	2,090
SCN10A	1,802
ZFHX3	1,649
HCN4	1,279
CCDC141	1,255
MIR297	0

Intra-cohort edges

A	B	Sources
HCN4	PITX2	string_interaction
HCN4	SCN5A	string_interaction
PITX2	ZFHX3	string_interaction

Structural data

PDB: 7 · AlphaFold-only: 1 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TTN	Q8WZ42	64
SCN5A	Q14524	16
HCN4	Q9Y3Q4	8
SCN10A	Q9Y5Y9	8
KRT8	P05787	3
ZFHX3	Q15911	3
PITX2	Q99697	3

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CCDC141	Q6ZP82	72.36

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 17. Enrichment computed across 9 evidence-associated genes (7 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 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interaction between L1 and Ankyrins	2	105.2×	0.001	SCN5A, SCN10A
Phase 0 - rapid depolarisation	2	98.9×	0.001	SCN5A, SCN10A
HCN channels	1	407.9×	0.007	HCN4
TFAP2 (AP-2) family regulates transcription of other transcription factors	1	407.9×	0.007	PITX2
L1CAM interactions	2	34.4×	0.007	SCN5A, SCN10A
Cardiac conduction	2	31.1×	0.007	SCN5A, SCN10A
Muscle contraction	2	22.1×	0.008	SCN5A, SCN10A
RUNX3 regulates CDKN1A transcription	1	233.1×	0.009	ZFHX3
Developmental Lineage of Mammary Gland Alveolar Cells	1	90.6×	0.016	KRT8
Axon guidance	2	12.9×	0.016	SCN5A, SCN10A
Nervous system development	2	12.3×	0.016	SCN5A, SCN10A
Developmental Biology	3	6.2×	0.016	SCN5A, SCN10A, KRT8
Developmental Lineage of Mammary Gland Luminal Epithelial Cells	1	65.3×	0.020	KRT8
Striated Muscle Contraction	1	44.1×	0.027	TTN
Platelet degranulation	1	12.6×	0.082	TTN
Formation of the cornified envelope	1	12.6×	0.082	KRT8
Keratinization	1	8.0×	0.119	KRT8

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
bundle of His cell action potential	2	2106.5×	3e-05	SCN5A, SCN10A
regulation of heart rate	3	175.5×	3e-05	SCN5A, SCN10A, HCN4
AV node cell action potential	2	1053.2×	5e-05	SCN5A, SCN10A
membrane depolarization during SA node cell action potential	2	842.6×	6e-05	SCN5A, HCN4
SA node cell action potential	2	702.2×	8e-05	SCN5A, HCN4
regulation of atrial cardiac muscle cell membrane depolarization	2	468.1×	1e-04	SCN5A, SCN10A
sodium ion transmembrane transport	3	76.1×	1e-04	SCN5A, SCN10A, HCN4
membrane depolarization during action potential	2	421.3×	1e-04	SCN5A, SCN10A
membrane depolarization during cardiac muscle cell action potential	2	351.1×	2e-04	SCN5A, HCN4
regulation of cardiac muscle contraction	2	221.7×	4e-04	SCN10A, HCN4
cardiac muscle cell action potential involved in contraction	2	175.5×	6e-04	SCN5A, SCN10A
cardiac muscle contraction	2	100.3×	0.002	SCN5A, TTN
regulation of heart rate by cardiac conduction	2	93.6×	0.002	SCN5A, HCN4
odontogenesis of dentin-containing tooth	2	75.2×	0.003	SCN5A, SCN10A
subthalamic nucleus development	1	2106.5×	0.004	PITX2
superior vena cava morphogenesis	1	2106.5×	0.004	PITX2
muscle contraction	2	52.0×	0.005	TTN, HCN4
hypothalamus cell migration	1	1053.2×	0.005	PITX2
prolactin secreting cell differentiation	1	1053.2×	0.005	PITX2
left lung morphogenesis	1	1053.2×	0.005	PITX2
pulmonary vein morphogenesis	1	1053.2×	0.005	PITX2
cell proliferation involved in outflow tract morphogenesis	1	1053.2×	0.005	PITX2
AV node cell to bundle of His cell communication	1	1053.2×	0.005	SCN5A
regulation of locomotor rhythm	1	1053.2×	0.005	ZFHX3
pulmonary myocardium development	1	702.2×	0.005	PITX2
skeletal muscle myosin thick filament assembly	1	702.2×	0.005	TTN
vascular associated smooth muscle cell differentiation	1	702.2×	0.005	PITX2
deltoid tuberosity development	1	702.2×	0.005	PITX2
sarcomerogenesis	1	702.2×	0.005	TTN
response to other organism	1	702.2×	0.005	KRT8

Therapeutics

Drug target analysis

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

Druggability breadth: 4 of 9 evidence-associated genes (44%) 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
SCN5A	BEPRIDIL
HCN4	IVABRADINE
SCN10A	IMIPRAMINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SCN5A	108	4
SCN10A	21	4
HCN4	2	4
TTN	0	0
CCDC141	0	0
MIR297	0	0
KRT8	0	0
ZFHX3	0	0
PITX2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BEPRIDIL	4	SCN5A
CANDESARTAN CILEXETIL	4	SCN5A
TELMISARTAN	4	SCN5A
CARBAMAZEPINE	4	SCN5A
DIBUCAINE	4	SCN5A
IMIPRAMINE	4	SCN10A, SCN5A
DROPERIDOL	4	SCN5A
PONATINIB	4	SCN5A
DULOXETINE	4	SCN5A
PALONOSETRON	4	SCN5A
VILANTEROL	4	SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN5A
UNOPROSTONE ISOPROPYL	4	SCN5A
LURASIDONE	4	SCN5A
LETERMOVIR	4	SCN5A
SERTINDOLE	4	SCN10A, SCN5A
FEDRATINIB	4	SCN5A
QUINIDINE	4	SCN5A
DARUNAVIR	4	SCN5A
DARIFENACIN	4	SCN5A
BENZONATATE	4	SCN5A
TOLTERODINE	4	SCN5A
RANOLAZINE	4	SCN5A
PIMOZIDE	4	SCN10A, SCN5A
NIMODIPINE	4	SCN5A
FELODIPINE	4	SCN5A
NICARDIPINE	4	SCN5A
AMLODIPINE	4	SCN5A
PHENYTOIN	4	SCN5A
PALIPERIDONE	4	SCN5A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
SCN5A	594	Binding:380, Functional:98, ADMET:72, Toxicity:43, Unclassified:1
SCN10A	144	Binding:124, Functional:16, ADMET:4
HCN4	30	Binding:20, ADMET:5, Functional:4, Toxicity:1
TTN	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TTN	2.7.11.1	non-specific serine/threonine protein kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
SCN5A	594
SCN10A	144

Pharmacogenomics

Cohort genes with a PharmGKB record: 9; 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)
BEPRIDIL	4	SCN5A
CANDESARTAN CILEXETIL	4	SCN5A
TELMISARTAN	4	SCN5A
CARBAMAZEPINE	4	SCN5A
DIBUCAINE	4	SCN5A
IMIPRAMINE	4	SCN10A, SCN5A
DROPERIDOL	4	SCN5A
PONATINIB	4	SCN5A
DULOXETINE	4	SCN5A
PALONOSETRON	4	SCN5A
VILANTEROL	4	SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN5A
UNOPROSTONE ISOPROPYL	4	SCN5A
LURASIDONE	4	SCN5A
LETERMOVIR	4	SCN5A
SERTINDOLE	4	SCN10A, SCN5A
FEDRATINIB	4	SCN5A
QUINIDINE	4	SCN5A
DARUNAVIR	4	SCN5A
DARIFENACIN	4	SCN5A
BENZONATATE	4	SCN5A
TOLTERODINE	4	SCN5A
RANOLAZINE	4	SCN5A
PIMOZIDE	4	SCN10A, SCN5A
NIMODIPINE	4	SCN5A
FELODIPINE	4	SCN5A
NICARDIPINE	4	SCN5A
AMLODIPINE	4	SCN5A
PHENYTOIN	4	SCN5A
PALIPERIDONE	4	SCN5A

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	3	SCN5A, HCN4, SCN10A
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	TTN
D	Druggable family + AlphaFold only, no drug	1	CCDC141
E	Difficult family or no structure, no drug	4	MIR297, KRT8, ZFHX3, PITX2

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TTN	1	—
CCDC141	0	—
MIR297	0	—
KRT8	0	—
ZFHX3	0	—
PITX2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.