Conotruncal heart malformations

Summary

Conotruncal heart malformations (MONDO:0016581) is a disease (an umbrella term covering 8 Mondo subtypes) caused by variants in NKX2-5 and TBX1, with 29 cohort genes (92 GWAS associations across 9 studies) and 3 clinical trials. The dominant Reactome pathway is Cardiogenesis (4 cohort genes). Top therapeutic interventions include calcium gluconate and sodium citrate.

At a glance

• Causal genes: NKX2-5 (GenCC Definitive), TBX1 (GenCC Definitive)
• Umbrella term: 8 Mondo subtypes
• Cohort genes: 29
• GWAS associations: 92
• ClinVar variants: 180
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	conotruncal heart malformations
Mondo ID	MONDO:0016581
OMIM	217095
Orphanet	2445
SNOMED CT	218728005
UMLS	C1857586
MedGen	341803
GARD	0008189
Is cancer (heuristic)	no

Also known as: conotruncal cardiac defects · conotruncal heart malformations · conotruncal heart malformations, variable · CTHM · Taussig-Bing syndrome or defect

Data availability: 180 ClinVar variants · 92 GWAS associations (9 studies) · 8 GenCC gene-disease records.

Disease family

An umbrella term covering 8 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › congenital anomaly of cardiovascular system › congenital heart malformation › conotruncal heart malformations

Related subtypes (25): transposition of the great arteries, congenital left-sided heart lesions, interventricular septum aneurysm, congenital heart defects, multiple types, 2, coronary artery congenital malformation, criss-cross heart, triatrial heart, familial idiopathic dilatation of the right atrium, cardiac diverticulum, congenital mitral malformation, congenital pericardium anomaly, ectopia cordis, visceral heterotaxy, mesocardia, univentricular cardiopathy, congenital anomaly of the great arteries, Laubry-Pezzi syndrome, congenital Gerbode defect, juxtaposition of the atrial appendages, ectasia of the right atrial appendage, ectasia of the left appendage, atrial septal aneurysm, congenital acardia, congenital right-sided heart lesions, congenital heart defects, multiple types, 1, X-linked

Subtypes (8): pulmonary atresia with ventricular septal defect, tetralogy of fallot, abnormal origin of the pulmonary artery, congenital aortopulmonary window, persistent truncus arteriosus, double outlet right ventricle, double outlet left ventricle, pulmonary valve agenesis

Genetics & variants

GWAS landscape

92 GWAS associations across 9 studies. Top hits map to 30 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs6886261	2e-07	ANXA2R-OT1	?	1.78
rs55884872	2e-07	TOX-DT - RNA5SP267	?	1.2
rs921541	2e-07	INSYN1-AS1 - TBC1D21	?
rs11017328	3e-07	Y_RNA - MIR378C	?	2.87
rs2517582	3e-07	LINC02570	?	1.17
rs13353396	3e-07	LINC01811	?
rs74461473	4e-07	SLC38A3	?	1.25
rs2108975	6e-07	SHISA6	?
rs13411840	6e-07	ALK	?
rs839156	6e-07	MGAT4C	?
rs13102150	6e-07	INPP4B	?
rs6545278	8e-07	GGCTP3 - CRTC1P1	?	2.62
rs17189763	8e-07	SFTA2 - NAPGP2	?	1.04
rs78977294	8e-07	LINC00536	?
rs2813392	8e-07	ADARB2	?
rs1959122	9e-07	RPL9P6 - EIF3LP1	?	7.63
rs2267386	1e-06	KCNJ4	?	3.12
rs4366490	1e-06	SLC22A24 - SLC22A25	?	1.7
rs6763159	1e-06	CFAP20DC-DT	?	1.47
rs6140038	1e-06	CASC20 - LINC01713	?	5.24
rs146189703	1e-06	ADAM29 - TSEN2P1	?	1.01
rs7024392	1e-06	LINC03131 - JKAMPP1	?	2.01
rs7720206	1e-06	ADGRV1	?
rs6465387	1e-06	CALCR	?
rs11012462	1e-06	NEBL	?
rs6882380	1e-06	ANXA2R-OT1	?
rs6996802	1e-06	RNU6-596P - RPL30P10	?
rs3843430	1e-06	LINC01182	?
rs13177180	2e-06	FEM1C - TICAM2	?	1.28
rs1217752	2e-06	CARTPT - MAP1B	?	1.08

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90026409	Oluwafemi OO	2021	913	0	Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
GCST90570534	Broberg M	2024	404	392,942	Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects.
GCST013176	Agopian AJ	2019	403	2,974	X-chromosome association studies of congenital heart defects.
GCST90026410	Oluwafemi OO	2021	294	2,976	Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
GCST90026411	Oluwafemi OO	2021	294	2,976	Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
GCST013177	Agopian AJ	2019	0	0	X-chromosome association studies of congenital heart defects.
GCST004720	Agopian AJ	2017	0	2,976	Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
GCST004723	Agopian AJ	2017	0	0	Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
GCST002438	Agopian AJ	2014	0	0	Genome-wide association study of maternal and inherited loci for conotruncal heart defects.

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	48

MAF distribution

Bucket	Variants
common (>=0.05)	47
low_freq (0.01-0.05)	2
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	35
intergenic_variant	13
regulatory_region_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs6886261	5	43022662	T>C	0.05	intron_variant	ANXA2R-OT1	2e-07	Tier 4: intronic/intergenic
rs55884872	8	59280255	C>A,G	0.05	intron_variant	TOX-DT - RNA5SP267	2e-07	Tier 4: intronic/intergenic
rs921541	15	73867762	C>A,G,T	0.05	intergenic_variant	INSYN1-AS1 - TBC1D21	2e-07	Tier 4: intronic/intergenic
rs11017328	10	130548836	C>A,G,T	0.05	intergenic_variant	Y_RNA - MIR378C	3e-07	Tier 4: intronic/intergenic
rs2517582	6	30840985	C>A,G,T	0.05	intron_variant	LINC02570	3e-07	Tier 4: intronic/intergenic
rs13353396	3	34505673	T>A,C,G	0.05	intron_variant	LINC01811	3e-07	Tier 4: intronic/intergenic
rs74461473	3	50213314	C>T	0.05	intron_variant	SLC38A3	4e-07	Tier 4: intronic/intergenic
rs2108975	17	11317850	C>A	0.05	intron_variant	SHISA6	6e-07	Tier 4: intronic/intergenic
rs13411840	2	29750415	A>C,T	0.05	intron_variant	ALK	6e-07	Tier 4: intronic/intergenic
rs839156	12	86201912	A>C,G,T	0.05	intron_variant	MGAT4C	6e-07	Tier 4: intronic/intergenic
rs13102150	4	142548980	C>A	0.05	intron_variant	INPP4B	6e-07	Tier 4: intronic/intergenic
rs6545278	2	52478914	T>G	0.05	intergenic_variant	GGCTP3 - CRTC1P1	8e-07	Tier 4: intronic/intergenic
rs17189763	6	30955750	C>T	0.05	regulatory_region_variant	SFTA2 - NAPGP2	8e-07	Tier 3: regulatory
rs78977294	8	116396904	C>T	0.05	intergenic_variant	LINC00536	8e-07	Tier 4: intronic/intergenic
rs2813392	10	1586710	A>C,G	0.05	intron_variant	ADARB2	8e-07	Tier 4: intronic/intergenic
rs1959122	14	81871321	C>A,T		intron_variant	RPL9P6 - EIF3LP1	9e-07	Tier 4: intronic/intergenic
rs2267386	22	38436107	G>A	0.024	intron_variant	KCNJ4	1e-06	Tier 4: intronic/intergenic
rs4366490	11	63145382	T>A,C	0.05	intergenic_variant	SLC22A24 - SLC22A25	1e-06	Tier 4: intronic/intergenic
rs6763159	3	59663795	T>C	0.05	intron_variant	CFAP20DC-DT	1e-06	Tier 4: intronic/intergenic
rs6140038	20	6601515	C>A,T	0.011	intergenic_variant	CASC20 - LINC01713	1e-06	Tier 4: intronic/intergenic
rs146189703	4	175023930	T>A,C	0.05	intron_variant	ADAM29 - TSEN2P1	1e-06	Tier 4: intronic/intergenic
rs7024392	9	12165298	C>A,G,T	0.05	intergenic_variant	LINC03131 - JKAMPP1	1e-06	Tier 4: intronic/intergenic
rs7720206	5	90772392	C>G,T	0.05	intron_variant	ADGRV1	1e-06	Tier 4: intronic/intergenic
rs6465387	7	93524748	C>G,T	0.05	intron_variant	CALCR	1e-06	Tier 4: intronic/intergenic
rs11012462	10	20986424	T>A,C	0.05	intron_variant	NEBL	1e-06	Tier 4: intronic/intergenic
rs6882380	5	42921599	T>A	0.05	intron_variant	ANXA2R-OT1	1e-06	Tier 4: intronic/intergenic
rs6996802	8	57380819	T>C	0.05	intergenic_variant	RNU6-596P - RPL30P10	1e-06	Tier 4: intronic/intergenic
rs3843430	4	14099649	T>A,C	0.05	intron_variant	LINC01182	1e-06	Tier 4: intronic/intergenic
rs13177180	5	115544896	G>A,C,T	0.05	regulatory_region_variant	FEM1C - TICAM2	2e-06	Tier 3: regulatory
rs1217752	5	71956619	A>T	0.05	intron_variant	CARTPT - MAP1B	2e-06	Tier 4: intronic/intergenic

ClinVar germline variants

180 retrieved; paginated sample, class counts are floors:

101 uncertain significance, 37 likely benign, 26 conflicting classifications of pathogenicity, 6 likely pathogenic, 3 benign, 3 benign/likely benign, 1 likely pathogenic; risk factor, 1 pathogenic/likely pathogenic, 1 not provided, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2690915	NM_005257.6(GATA6):c.729_730del (p.Gly244fs)	GATA6	Pathogenic	criteria provided, single submitter
159257	NM_004387.4(NKX2-5):c.783del (p.Ala262fs)	NKX2-5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3583188	NM_005257.6(GATA6):c.1135+2T>C	GATA6	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3899338	NM_005257.6(GATA6):c.1135+1G>A	GATA6	Likely pathogenic	criteria provided, single submitter
1172828	NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs)	NKX2-6	Likely pathogenic; risk factor	criteria provided, multiple submitters, no conflicts
133345	NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter)	NKX2-6	Likely pathogenic	criteria provided, single submitter
2432235	NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)	NKX2-6	Likely pathogenic	criteria provided, single submitter
791	NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu)	NKX2-6	Likely pathogenic	criteria provided, single submitter
4075193	NM_024665.7(TBL1XR1):c.1188_1205del (p.Ile397_Thr402del)	TBL1XR1	Likely pathogenic	criteria provided, single submitter
210542	NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg)	BRWD3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
30210	NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	GATA6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
412726	NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)	GATA6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
999815	NM_005257.6(GATA6):c.660C>T (p.Gly220=)	GATA6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
424319	NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	JAG1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1019319	NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1021433	NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1377875	NM_004387.4(NKX2-5):c.510G>C (p.Gln170His)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1439076	NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
156161	NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
372743	NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
392351	NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
505440	NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
850796	NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
939551	NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)	NKX2-5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1311053	NM_001136271.3(NKX2-6):c.368G>A (p.Arg123His)	NKX2-6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
534674	NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)	NKX2-6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1114796	NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)	TBX1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1934268	NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)	TBX1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2001091	NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)	TBX1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2086566	NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)	TBX1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 51 · Orphanet: 51 · 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
GATA6	Definitive	Autosomal dominant	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	16
NKX2-5	Definitive	Semidominant	conotruncal heart malformations	17
TBX1	Definitive	Autosomal dominant	conotruncal heart malformations	6
GDF1	Strong	Autosomal dominant	congenital heart defects, multiple types, 6	8
NKX2-6	Strong	Autosomal recessive	congenital heart disease	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TBX1	Orphanet:1727	22q11.2 duplication syndrome
TBX1	Orphanet:3303	Tetralogy of Fallot
TBX1	Orphanet:567	22q11.2 deletion syndrome
TBX1	Orphanet:665044	Common arterial trunk with aortic dominance
TBX1	Orphanet:665058	Common arterial trunk with pulmonary dominance and interrupted aortic arch
TBX1	Orphanet:685017	Combined immunodeficiency due to TBX1 deficiency
NKX2-5	Orphanet:101351	Familial isolated congenital asplenia
NKX2-5	Orphanet:1479	Atrial septal defect-atrioventricular conduction defects syndrome
NKX2-5	Orphanet:1627	Deletion 5q35 syndrome
NKX2-5	Orphanet:2248	Hypoplastic left heart syndrome
NKX2-5	Orphanet:3303	Tetralogy of Fallot
NKX2-5	Orphanet:334	Hereditary atrial fibrillation
NKX2-5	Orphanet:402075	Familial bicuspid aortic valve
NKX2-5	Orphanet:871	Hereditary progressive cardiac conduction defect
NKX2-5	Orphanet:95712	Thyroid ectopia
NKX2-5	Orphanet:95713	Athyreosis
NKX2-5	Orphanet:99103	Atrial septal defect, ostium secundum type
NKX2-6	Orphanet:3303	Tetralogy of Fallot
NKX2-6	Orphanet:334	Hereditary atrial fibrillation
NKX2-6	Orphanet:3384	Common arterial trunk
GATA6	Orphanet:2140	Congenital diaphragmatic hernia
GATA6	Orphanet:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GATA6	Orphanet:3303	Tetralogy of Fallot
GATA6	Orphanet:334	Hereditary atrial fibrillation
GATA6	Orphanet:665044	Common arterial trunk with aortic dominance
GATA6	Orphanet:665058	Common arterial trunk with pulmonary dominance and interrupted aortic arch
GATA6	Orphanet:99067	Complete atrioventricular septal defect with ventricular hypoplasia
GATA6	Orphanet:99103	Atrial septal defect, ostium secundum type
GDF1	Orphanet:216718	Isolated congenitally uncorrected transposition of the great arteries
GDF1	Orphanet:3303	Tetralogy of Fallot
GDF1	Orphanet:97548	Right isomerism
FOXP2	Orphanet:209908	Isolated childhood apraxia of speech
FOXP2	Orphanet:251061	7q31 microdeletion syndrome
BRWD3	Orphanet:528084	Non-specific syndromic intellectual disability
SLC38A3	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
SMCHD1	Orphanet:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
SMCHD1	Orphanet:269	Facioscapulohumeral dystrophy
TBL1XR1	Orphanet:487825	Pierpont syndrome
TBL1XR1	Orphanet:520	Acute promyelocytic leukemia
FHIT	Orphanet:422526	Hereditary clear cell renal cell carcinoma
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
JAG1	Orphanet:261600	Alagille syndrome due to 20p12 microdeletion
JAG1	Orphanet:261619	Alagille syndrome due to a JAG1 point mutation

Cohort genes → proteins

29 cohort genes, 29 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	19
multi_evidence	10

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TBX1	HGNC:11592	ENSG00000184058	O43435	T-box transcription factor TBX1	gencc,clinvar
NKX2-5	HGNC:2488	ENSG00000183072	P52952	Homeobox protein Nkx-2.5	gencc,clinvar
NKX2-6	HGNC:32940	ENSG00000180053	A6NCS4	Homeobox protein Nkx-2.6	gencc,clinvar
GATA6	HGNC:4174	ENSG00000141448	Q92908	Transcription factor GATA-6	gencc,clinvar
GDF1	HGNC:4214	ENSG00000130283	P27539	Embryonic growth/differentiation factor 1	gencc
VARS1	HGNC:12651	ENSG00000204394	P26640	Valine–tRNA ligase	gwas
FOXP2	HGNC:13875	ENSG00000128573	O15409	Forkhead box protein P2	gwas
ENTPD4	HGNC:14573	ENSG00000197217	Q9Y227	Ectonucleoside triphosphate diphosphohydrolase 4	clinvar
SCHIP1	HGNC:15678	ENSG00000151967	P0DPB3	Schwannomin-interacting protein 1	gwas
ZNF343	HGNC:16017	ENSG00000088876	Q6P1L6	Zinc finger protein 343	gwas
FEM1C	HGNC:16933	ENSG00000145780	Q96JP0	Protein fem-1 homolog C	gwas
BRWD3	HGNC:17342	ENSG00000165288	Q6RI45	Bromodomain and WD repeat-containing protein 3	clinvar
SLC38A3	HGNC:18044	ENSG00000188338	Q99624	Sodium-coupled neutral amino acid transporter 3	gwas
ATG2B	HGNC:20187	ENSG00000066739	Q96BY7	Autophagy-related protein 2 homolog B	gwas
GSKIP	HGNC:20343	ENSG00000100744	Q9P0R6	GSK3B-interacting protein	gwas
CTSG	HGNC:2532	ENSG00000100448	P08311	Cathepsin G	gwas
SLC38A12	HGNC:25984	ENSG00000109066	Q8NE00	Putative sodium-coupled neutral amino acid transporter 12	gwas
SLC22A24	HGNC:28542	ENSG00000197658	Q8N4F4	Steroid transmembrane transporter SLC22A24	gwas
SMCHD1	HGNC:29090	ENSG00000101596	A6NHR9	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	gwas
KAZN	HGNC:29173	ENSG00000189337	Q674X7	Kazrin	gwas
KLHL29	HGNC:29404	ENSG00000119771	Q96CT2	Kelch-like protein 29	gwas
TBL1XR1	HGNC:29529	ENSG00000177565	Q9BZK7	F-box-like/WD repeat-containing protein TBL1XR1	clinvar
IQCJ	HGNC:32406	ENSG00000214216	Q1A5X6	IQ domain-containing protein J	gwas
FHIT	HGNC:3701	ENSG00000189283	P49789	Bis(5’-adenosyl)-triphosphatase	gwas
GATA4	HGNC:4173	ENSG00000136574	P43694	Transcription factor GATA-4	clinvar
GTF2H4	HGNC:4658	ENSG00000213780	Q92759	General transcription factor IIH subunit 4	gwas
JAG1	HGNC:6188	ENSG00000101384	P78504	Protein jagged-1	clinvar
KCNJ4	HGNC:6265	ENSG00000168135	P48050	Inward rectifier potassium channel 4	gwas
PAPPA	HGNC:8602	ENSG00000182752	Q13219	Pappalysin-1	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TBX1	T-box transcription factor TBX1	Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development.
NKX2-5	Homeobox protein Nkx-2.5	Transcription factor required for the development of the heart and the spleen.
NKX2-6	Homeobox protein Nkx-2.6	Acts as a transcriptional activator.
GATA6	Transcription factor GATA-6	Transcriptional activator.
GDF1	Embryonic growth/differentiation factor 1	May mediate cell differentiation events during embryonic development.
VARS1	Valine–tRNA ligase	Catalyzes the attachment of valine to tRNA(Val).
FOXP2	Forkhead box protein P2	Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium.
ENTPD4	Ectonucleoside triphosphate diphosphohydrolase 4	Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner, with a preference for pyrimidines.
ZNF343	Zinc finger protein 343	May be involved in transcriptional regulation.
FEM1C	Protein fem-1 homolog C	Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to…
BRWD3	Bromodomain and WD repeat-containing protein 3	Plays a role in the regulation of cell morphology and cytoskeletal organization.
SLC38A3	Sodium-coupled neutral amino acid transporter 3	Symporter that cotransports specific neutral amino acids and sodium ions, coupled to an H(+) antiporter activity.
ATG2B	Autophagy-related protein 2 homolog B	Lipid transfer protein required for both autophagosome formation and regulation of lipid droplet morphology and dispersion.
GSKIP	GSK3B-interacting protein	A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets.
CTSG	Cathepsin G	Serine protease with trypsin- and chymotrypsin-like specificity.
SLC22A24	Steroid transmembrane transporter SLC22A24	Renal transmembrane organic anion/dicarboxylate exchanger that participates in the reabsorption of conjugated steroids including estradiol-17beta-D-glucuronide (or 17beta-estradiol 17-O-(beta-D-glucuronate)), androstanediol glucuronide (or…
SMCHD1	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture.
KAZN	Kazrin	Component of the cornified envelope of keratinocytes.
TBL1XR1	F-box-like/WD repeat-containing protein TBL1XR1	F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units.
FHIT	Bis(5’-adenosyl)-triphosphatase	Possesses dinucleoside triphosphate hydrolase activity.
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.
GTF2H4	General transcription factor IIH subunit 4	Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription…
JAG1	Protein jagged-1	Ligand for multiple Notch receptors and involved in the mediation of Notch signaling.
KCNJ4	Inward rectifier potassium channel 4	Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it.
PAPPA	Pappalysin-1	Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF.

Protein-family classification

Druggable: 6 · Difficult: 10 · Unknown: 13 · Druggable fraction: 0.21

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
Transcription factor	7	2.0×	0.376
Ion channel	1	3.9×	0.410
Protease	2	2.5×	0.410
Scaffold/PPI	3	1.8×	0.410
Transporter	1	2.7×	0.438
Enzyme (other)	2	0.8×	0.827
Other/Unknown	13	0.8×	0.916

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TBX1	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
NKX2-5	Transcription factor	no		HD, Homeodomain-like_sf, Homeobox_CS
NKX2-6	Transcription factor	no		HD, Homeodomain-like_sf, Homeobox_CS
GATA6	Transcription factor	no		Znf_GATA, GATA_N, Znf_NHR/GATA
GDF1	Other/Unknown	no		TGF-b_C, TGF-beta-like, TGFb_CS
VARS1	Enzyme (other)	yes	6.1.1.9	aa-tRNA-synth_I_CS, aa-tRNA-synth_Ia, Valyl-tRNA_ligase
FOXP2	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_2, FOXP-CC
ENTPD4	Other/Unknown	no		GDA1_CD39_NTPase
SCHIP1	Other/Unknown	no		SCHIP_1_C, SCHIP_1
ZNF343	Transcription factor	no		KRAB, Znf_C2H2_type, KRAB_dom_sf
FEM1C	Scaffold/PPI	no		Ankyrin_rpt, TPR-like_helical_dom_sf, Ankyrin_rpt-contain_sf
BRWD3	Scaffold/PPI	no		Bromodomain, WD40_rpt, WD40/YVTN_repeat-like_dom_sf
SLC38A3	Other/Unknown	no		AA_transpt_TM
ATG2B	Other/Unknown	no		ATG2
GSKIP	Other/Unknown	no		GSKIP_dom, GSKIP_dom_sf, GSKIP
CTSG	Protease	yes	3.4.21.20	Trypsin_dom, Peptidase_S1A, Peptidase_S1_PA
SLC38A12	Other/Unknown	no		AA_transpt_TM
SLC22A24	Transporter	yes		MFS_sugar_transport-like, MFS_dom, MFS_trans_sf
SMCHD1	Other/Unknown	no		SMC_hinge, SMC_hinge_sf, HATPase_C_sf
KAZN	Other/Unknown	no		SAM, SAM/pointed_sf, Kazrin_SAM_rpt_1
KLHL29	Other/Unknown	no		BTB/POZ_dom, Kelch_1, SKP1/BTB/POZ_sf
TBL1XR1	Scaffold/PPI	no		WD40_rpt, LisH, WD40/YVTN_repeat-like_dom_sf
IQCJ	Other/Unknown	no		IQCJ-SCHIP1_N, IQ_domain_protein
FHIT	Enzyme (other)	yes	3.6.1.29	HIT-like, Histidine_triad_CS, HIT-like_sf
GATA4	Transcription factor	no		Znf_GATA, GATA_N, Znf_NHR/GATA
GTF2H4	Other/Unknown	no		TFIIH_p52/Tfb2, Tfb2_C
JAG1	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, VWF_dom
KCNJ4	Ion channel	yes		K_chnl_inward-rec_Kir2.3, K_chnl_inward-rec_Kir_cyto, Ig_E-set
PAPPA	Protease	yes	3.4.24.79	Sushi_SCR_CCP_dom, Notch_dom, LamG-like

Expression context

Cohort genes with no expression data: 0.

24 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)	2
broad (>20)	27
unknown	0

Top tissues across cohort

Tissue	Cohort genes
middle temporal gyrus	4
calcaneal tendon	4
right atrium auricular region	3
buccal mucosa cell	3
tibia	3
hindlimb stylopod muscle	2
jejunal mucosa	2
sural nerve	2
tibialis anterior	2
Brodmann (1909) area 23	2
secondary oocyte	2
sperm	2
right lobe of liver	2
upper leg skin	2
gastrocnemius	1
muscle of leg	1
apex of heart	1
cardiac atrium	1
minor salivary gland	1
saliva-secreting gland	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TBX1	220	broad	marker	hindlimb stylopod muscle, gastrocnemius, muscle of leg
NKX2-5	98	broad	yes	apex of heart, right atrium auricular region, cardiac atrium
NKX2-6	13	tissue_specific	yes	right atrium auricular region, minor salivary gland, saliva-secreting gland
GATA6	204	ubiquitous	marker	germinal epithelium of ovary, parietal pleura, jejunal mucosa
GDF1	34	ubiquitous	yes	primary visual cortex, sural nerve, superior frontal gyrus
VARS1	134	ubiquitous	marker	right testis, left testis, testis
FOXP2	237	broad	marker	buccal mucosa cell, tibialis anterior, mucosa of paranasal sinus
ENTPD4	291	ubiquitous	marker	Brodmann (1909) area 23, middle temporal gyrus, tibia
SCHIP1	133	ubiquitous	marker	ventricular zone, prefrontal cortex, Brodmann (1909) area 9
ZNF343	206	ubiquitous	marker	tibialis anterior, secondary oocyte, calcaneal tendon
FEM1C	259	ubiquitous	marker	sperm, male germ cell, skeletal muscle tissue of biceps brachii
BRWD3	223	ubiquitous	marker	tendon of biceps brachii, epithelial cell of pancreas, calcaneal tendon
SLC38A3	164	broad	marker	right lobe of liver, hindlimb stylopod muscle, liver
ATG2B	282	ubiquitous	marker	Brodmann (1909) area 23, middle temporal gyrus, sperm
GSKIP	255	ubiquitous	marker	secondary oocyte, ileal mucosa, jejunal mucosa
CTSG	194	broad	marker	trabecular bone tissue, bone marrow cell, bone marrow
SLC38A12	211	ubiquitous	marker	stromal cell of endometrium, granulocyte, monocyte
SLC22A24	11		marker	buccal mucosa cell, adult mammalian kidney, upper leg skin
SMCHD1	290	ubiquitous	marker	calcaneal tendon, colonic epithelium, blood
KAZN	277	ubiquitous	marker	cerebellar vermis, inferior vagus X ganglion, esophagus squamous epithelium
KLHL29	256	ubiquitous	marker	tibia, middle temporal gyrus, sural nerve
TBL1XR1	284	ubiquitous	marker	calcaneal tendon, nipple, tibia
IQCJ	46	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, corpus callosum
FHIT	188	ubiquitous	marker	right adrenal gland, right adrenal gland cortex, left adrenal gland cortex
GATA4	85	broad	marker	right atrium auricular region, heart left ventricle, duodenum
GTF2H4	139	ubiquitous	yes	right lobe of liver, pituitary gland, metanephros cortex
JAG1	297	ubiquitous	marker	upper leg skin, skin of hip, blood vessel layer
KCNJ4	119		yes	endothelial cell, middle temporal gyrus, Brodmann (1909) area 10
PAPPA	244	broad	marker	decidua, placenta, buccal mucosa cell

Protein interactions among cohort

Intra-cohort edges: 7.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
VARS1	5,848
GATA4	4,994
JAG1	4,405
TBL1XR1	4,066
BRWD3	2,714
FOXP2	2,557
CTSG	2,478
NKX2-5	2,355
KCNJ4	1,894
SMCHD1	1,888

Intra-cohort edges

A	B	Sources
ATG2B	GSKIP	string_interaction
GATA4	NKX2-5	biogrid_interaction, intact, string_interaction
GATA4	NKX2-6	string_interaction
GDF1	NKX2-6	string_interaction
NKX2-5	TBX1	string_interaction
NKX2-6	TBX1	string_interaction
SLC22A24	ZNF343	string_interaction

Structural data

PDB: 15 · AlphaFold-only: 14 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GTF2H4	Q92759	51
CTSG	P08311	16
FEM1C	Q96JP0	12
FHIT	P49789	9
PAPPA	Q13219	8
JAG1	P78504	7
NKX2-5	P52952	4
GATA4	P43694	3
FOXP2	O15409	2
TBX1	O43435	1
ENTPD4	Q9Y227	1
GSKIP	Q9P0R6	1
SMCHD1	A6NHR9	1
TBL1XR1	Q9BZK7	1
KCNJ4	P48050	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
VARS1	P26640	88.12
SLC22A24	Q8N4F4	87.62
SLC38A12	Q8NE00	81.33
SLC38A3	Q99624	78.62
GDF1	P27539	74.44
KLHL29	Q96CT2	71.27
KAZN	Q674X7	71.09
ZNF343	Q6P1L6	67.58
ATG2B	Q96BY7	65.72
BRWD3	Q6RI45	65.11
NKX2-6	A6NCS4	64.31
SCHIP1	P0DPB3	61.13
GATA6	Q92908	53.48
IQCJ	Q1A5X6	49.01

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 186. Enrichment computed across 29 evidence-associated genes (18 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 18 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Cardiogenesis	4	94.0×	1e-05	TBX1, NKX2-5, GATA6, GATA4
YAP1- and WWTR1 (TAZ)-stimulated gene expression	2	84.6×	0.015	NKX2-5, GATA4
Formation of definitive endoderm	2	79.3×	0.015	GATA6, GATA4
Physiological factors	2	74.6×	0.015	NKX2-5, GATA4
Developmental Lineage of Multipotent Pancreatic Progenitor Cells	2	66.8×	0.015	GATA6, GATA4
Signaling by NOTCH1 PEST Domain Mutants in Cancer	2	45.3×	0.020	TBL1XR1, JAG1
Signaling by NOTCH1 in Cancer	2	45.3×	0.020	TBL1XR1, JAG1
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	2	45.3×	0.020	TBL1XR1, JAG1
Signaling by NOTCH1	2	39.6×	0.023	TBL1XR1, JAG1
Constitutive Signaling by NOTCH1 PEST Domain Mutants	2	21.9×	0.062	TBL1XR1, JAG1
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	2	21.9×	0.062	TBL1XR1, JAG1
Signaling by NOTCH	2	19.5×	0.071	TBL1XR1, JAG1
Classical Kir channels	1	158.6×	0.084	KCNJ4
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant	1	158.6×	0.084	JAG1
Formation of lateral plate mesoderm	1	126.9×	0.097	GATA4
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant	1	90.6×	0.097	JAG1
Loss of MECP2 binding ability to the NCoR/SMRT complex	1	90.6×	0.097	TBL1XR1
Suppression of apoptosis	1	90.6×	0.097	CTSG
Phosphate bond hydrolysis by NTPDase proteins	1	79.3×	0.097	ENTPD4
Loss of function of MECP2 in Rett syndrome	1	79.3×	0.097	TBL1XR1
Pervasive developmental disorders	1	79.3×	0.097	TBL1XR1
Response of Mtb to phagocytosis	1	79.3×	0.097	CTSG
Disorders of Developmental Biology	1	79.3×	0.097	TBL1XR1
Disorders of Nervous System Development	1	79.3×	0.097	TBL1XR1
Signaling by NOTCH1 HD Domain Mutants in Cancer	1	70.5×	0.097	JAG1
Interleukin-1 processing	1	70.5×	0.097	CTSG
G protein gated Potassium channels	1	63.4×	0.097	KCNJ4
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation	1	63.4×	0.097	GATA6
Infection with Mycobacterium tuberculosis	1	63.4×	0.097	CTSG
Cell recruitment (pro-inflammatory response)	1	63.4×	0.097	CTSG

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 27 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
atrioventricular node development	3	312.1×	2e-05	NKX2-5, GATA6, GATA4
atrial cardiac muscle cell development	2	416.1×	8e-04	NKX2-5, NKX2-6
pharyngeal system development	3	89.2×	8e-04	TBX1, NKX2-5, NKX2-6
outflow tract septum morphogenesis	3	72.0×	8e-04	TBX1, NKX2-5, GATA6
epithelial cell differentiation	4	26.0×	0.001	TBX1, NKX2-5, NKX2-6, GATA6
aortic valve morphogenesis	3	48.0×	0.002	NKX2-5, GATA4, JAG1
atrioventricular canal development	2	113.5×	0.005	GATA6, GATA4
ventricular cardiac muscle cell development	2	113.5×	0.005	NKX2-5, NKX2-6
intestinal epithelial cell differentiation	2	113.5×	0.005	GATA6, GATA4
cardiac right ventricle morphogenesis	2	104.0×	0.005	GATA4, JAG1
atrial septum morphogenesis	2	96.0×	0.005	NKX2-5, GATA4
cardiac septum morphogenesis	2	89.2×	0.005	NKX2-5, JAG1
negative regulation of epithelial cell apoptotic process	2	89.2×	0.005	NKX2-5, NKX2-6
positive regulation of epithelial cell proliferation	3	27.1×	0.005	TBX1, NKX2-5, NKX2-6
positive regulation of transcription by RNA polymerase II	8	4.4×	0.006	TBX1, NKX2-5, NKX2-6, GATA6, SLC38A3, TBL1XR1, GATA4, JAG1
aorta morphogenesis	2	65.7×	0.008	TBX1, JAG1
epithelial cell apoptotic process	2	62.4×	0.009	NKX2-5, NKX2-6
embryonic heart tube development	2	56.7×	0.010	NKX2-5, NKX2-6
Purkinje myocyte differentiation	1	624.1×	0.013	NKX2-5
septum secundum development	1	624.1×	0.013	NKX2-5
diadenosine triphosphate catabolic process	1	624.1×	0.013	FHIT
caudate nucleus development	1	624.1×	0.013	FOXP2
putamen development	1	624.1×	0.013	FOXP2
negative regulation of transforming growth factor beta2 production	1	624.1×	0.013	GATA6
tube morphogenesis	1	624.1×	0.013	GATA6
sterol transmembrane transport	1	624.1×	0.013	SLC22A24
endocardial cushion cell development	1	624.1×	0.013	JAG1
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1	624.1×	0.013	GDF1
biofilm matrix disassembly	1	624.1×	0.013	CTSG
L-asparagine import across plasma membrane	1	624.1×	0.013	SLC38A3

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 2 · Phased (≥1): 3 · Undrugged: 26

Druggability breadth: 11 of 29 evidence-associated genes (38%) 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
CTSG	BORTEZOMIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CTSG	5	4
SMCHD1	1	2
FHIT	1	3
TBX1	0	0
NKX2-5	0	0
NKX2-6	0	0
GATA6	0	0
GDF1	0	0
VARS1	0	0
FOXP2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BORTEZOMIB	4	CTSG
TRIAMTERENE	4	CTSG
SURAMIN	3	FHIT
DELANZOMIB	2	CTSG
FULACIMSTAT	2	CTSG
ALOXISTATIN	2	CTSG
MOLIBRESIB	2	SMCHD1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

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

Symbol	Assays	Type breakdown
CTSG	160	Binding:155, ADMET:4, Toxicity:1
FHIT	21	Binding:19, ADMET:2
VARS1	7	Binding:7
SMCHD1	7	Binding:7
KCNJ4	7	Binding:7
BRWD3	5	Binding:5
GATA4	5	Binding:5
TBL1XR1	2	Binding:2
ENTPD4	1	ADMET:1
GSKIP	1	Binding:1
JAG1	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
VARS1	6.1.1.9	valine-tRNA ligase
CTSG	3.4.21.20	cathepsin G
FHIT	3.6.1.29	bis(5’-adenosyl)-triphosphatase
PAPPA	3.4.24.79	pappalysin-1

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
CTSG	160

Pharmacogenomics

Cohort genes with a PharmGKB record: 29; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

7 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)
BORTEZOMIB	4	CTSG
TRIAMTERENE	4	CTSG
SURAMIN	3	FHIT
DELANZOMIB	2	CTSG
FULACIMSTAT	2	CTSG
ALOXISTATIN	2	CTSG
MOLIBRESIB	2	SMCHD1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CTSG
B	Phased (≥1) drug, not yet approved	2	SMCHD1, FHIT
C	Druggable family + PDB, no drug	2	KCNJ4, PAPPA
D	Druggable family + AlphaFold only, no drug	2	VARS1, SLC22A24
E	Difficult family or no structure, no drug	22	TBX1, NKX2-5, NKX2-6, GATA6, GDF1, FOXP2, ENTPD4, SCHIP1, ZNF343, FEM1C (+12 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TBX1	0	—
NKX2-5	0	—
NKX2-6	0	—
GATA6	0	—
GDF1	0	—
VARS1	7	—
FOXP2	0	—
ENTPD4	1	—
SCHIP1	0	—
ZNF343	0	—
FEM1C	0	—
BRWD3	5	—
SLC38A3	0	—
ATG2B	0	—
GSKIP	1	—
SLC38A12	0	—
SLC22A24	0	—
KAZN	0	—
KLHL29	0	—
TBL1XR1	2	—
IQCJ	0	—
GATA4	5	—
GTF2H4	0	—
JAG1	1	—
KCNJ4	7	—
PAPPA	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00004361	Not specified	COMPLETED	Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects
NCT00005102	Not specified	UNKNOWN	Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
NCT01460316	Not specified	COMPLETED	Conotruncal Cardiac Defects and Nutrigenetic Etiopathogeny

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CALCIUM GLUCONATE	4	1
SODIUM CITRATE	4	1