Heart valve disorder

Summary

Heart valve disorder (MONDO:0002869) is a disease with 23 GWAS associations across 24 studies and 1 clinical trial. A subtype of heart disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 23
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	heart valve disorder
Mondo ID	MONDO:0002869
EFO	EFO:0009551
MeSH	D006349
DOID	DOID:4079
ICD-11	1121431779
NCIT	C45525
SNOMED CT	368009
UMLS	C0018824
MedGen	5463
Anatomy (UBERON)	UBERON:0000946
Is cancer (heuristic)	no

Also known as: cardial valve disease · cardial valve disease or disorder · disease of cardial valve · disease or disorder of cardial valve · disorder of cardial valve · disorder of heart valve · heart valve disorder · valvular heart disorder

Data availability: 23 GWAS associations (24 studies).

Disease family

This is a subtype of heart disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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

Related subtypes (33): endocardium disorder, pericardium disorder, cardiac tuberculosis, heart conduction disease, hypertensive heart disease, 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 (4): tricuspid valve disorder, pulmonary valve disorder, mitral valve disorder, aortic valve disorder

Genetics & variants

GWAS landscape

23 GWAS associations across 24 studies. Top hits map to 13 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs10455872	2e-66	LPA	A	0.26
rs6702619	5e-30	LINC01708	T	0.1
chr2:145811836	3e-22		A	0.08
rs10024267	5e-22	PITX2 - LINC01438	C	0.15
rs1852687	6e-19	TEX41	G	0.07
rs117202424	3e-18	CEP85L	G	0.16
rs2421649	3e-15	MECOM	A	0.07
chr7:92254856	4e-15		C	0.07
chr11:61557803	1e-14		T	0.07
rs174564	9e-14	FADS1, FADS2	A	0.06
rs583104	2e-13	CELSR2 - PSRC1	G	0.07
rs7804293	8e-13	CDK6	T	0.07
chr22:38105810	2e-12		C	0.06
rs6982502	4e-12	TRIB1AL	C	0.06
rs4970836	4e-12	CELSR2 - PSRC1	G	0.07
chr7:22766221	3e-11		A	0.06
rs146876278	1e-09	CMAHP, CARMIL1	?
rs200854727	2e-08	P2RX3	C	2.24
rs76712741	7e-07	GABRG3	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475913	Verma A	2024	32,458	394,581	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90018811	Sakaue S	2021	25,070	440,457	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90297595	Auwerx C	2024	9,479	179,146	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297649	Auwerx C	2024	9,479	179,146	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297700	Auwerx C	2024	9,479	179,146	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297745	Auwerx C	2024	9,479	179,146	Rare copy-number variants as modulators of common disease susceptibility.
GCST90473513	UK Biobank Whole-Genome Sequencing Consortium	2025	8,635	449,805	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477837	Verma A	2024	5,334	110,687	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480123	Verma A	2024	5,334	110,687	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436058	Zhou W	2018	4,239	402,421	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	0
Tier 4: intronic/intergenic	19

MAF distribution

Bucket	Variants
common (>=0.05)	16
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	3

Functional consequences

Consequence	Count
intron_variant	11
unknown	5
intergenic_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs10455872	6	160589086	A>G	0.069	intron_variant	LPA	2e-66	Tier 4: intronic/intergenic
rs6702619	1	99580690	T>G	0.488	intron_variant	LINC01708	5e-30	Tier 4: intronic/intergenic
chr2:145811836				0.444			3e-22	Tier 4: intronic/intergenic
rs10024267	4	110725811	T>C,G	0.05	intergenic_variant	PITX2 - LINC01438	5e-22	Tier 4: intronic/intergenic
rs1852687	2	145049848	G>A	0.474	intron_variant	TEX41	6e-19	Tier 4: intronic/intergenic
rs117202424	6	118500543	G>A	0.051	intron_variant	CEP85L	3e-18	Tier 4: intronic/intergenic
rs2421649	3	169479545	A>G	0.494	intron_variant	MECOM	3e-15	Tier 4: intronic/intergenic
chr7:92254856				0.265			4e-15	Tier 4: intronic/intergenic
chr11:61557803				0.34			1e-14	Tier 4: intronic/intergenic
rs174564	11	61820833	A>C,G	0.317	intron_variant	FADS1, FADS2	9e-14	Tier 4: intronic/intergenic
rs583104	1	109278685	G>A,C,T	0.229	intergenic_variant	CELSR2 - PSRC1	2e-13	Tier 4: intronic/intergenic
rs7804293	7	92658535	T>C,G	0.237	intron_variant	CDK6	8e-13	Tier 4: intronic/intergenic
chr22:38105810				0.408			2e-12	Tier 4: intronic/intergenic
rs6982502	8	125467120	C>T	0.491	intron_variant	TRIB1AL	4e-12	Tier 4: intronic/intergenic
rs4970836	1	109279175	G>A,C	0.316	intergenic_variant	CELSR2 - PSRC1	4e-12	Tier 4: intronic/intergenic
chr7:22766221				0.415			3e-11	Tier 4: intronic/intergenic
rs146876278	6	25445241	C>T		intron_variant	CMAHP, CARMIL1	1e-09	Tier 4: intronic/intergenic
rs200854727	11	57350728	G>A,C,T		intron_variant	P2RX3	2e-08	Tier 4: intronic/intergenic
rs76712741	15	27525014	G>A		intron_variant	GABRG3	7e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03610529	Not specified	UNKNOWN	CardioSenseSystem Compared Study Regarding Efficacy and Safety in the Monitoring of ECG