SALL4

Summary

SALL4 (spalt like transcription factor 4, HGNC:15924) is a protein-coding gene on chromosome 20q13.2, encoding Sal-like protein 4 (Q9UJQ4). Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 57167 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Duane-radial ray syndrome (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 603 total — 42 pathogenic, 14 likely-pathogenic
• Phenotypes (HPO): 151
• Druggable target: yes
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 22 downstream targets (CollecTRI)
• MANE Select transcript: NM_020436

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15924
Approved symbol	SALL4
Name	spalt like transcription factor 4
Location	20q13.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ1112F19.1, ZNF797
Ensembl gene	ENSG00000101115
Ensembl biotype	protein_coding
OMIM	607343
Entrez	57167

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000217086, ENST00000371539, ENST00000395997, ENST00000481363, ENST00000483130

RefSeq mRNA: 2 — MANE Select: NM_020436 NM_001318031, NM_020436

CCDS: CCDS13438, CCDS82629

Canonical transcript exons

ENST00000217086 — 4 exons

Exon	Start	End
ENSE00000662751	51788861	51789141
ENSE00000662752	51790022	51792352
ENSE00001920922	51782331	51784684
ENSE00002691295	51802279	51802521

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 93.81.

FANTOM5 (CAGE): breadth broad, TPM avg 6.1743 / max 504.2526, expressed in 303 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187970	2.5010	203
187971	1.5848	175
187967	1.3501	200
187969	0.2728	118
187968	0.1653	91
187966	0.1224	48
187972	0.1044	68
187973	0.0735	46

Top tissues by expression

248 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	93.81	gold quality
oocyte	CL:0000023	89.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.73	gold quality
right lobe of thyroid gland	UBERON:0001119	77.96	gold quality
left lobe of thyroid gland	UBERON:0001120	77.76	gold quality
thyroid gland	UBERON:0002046	77.73	gold quality
germinal epithelium of ovary	UBERON:0001304	75.34	gold quality
trabecular bone tissue	UBERON:0002483	75.17	silver quality
tibia	UBERON:0000979	75.11	gold quality
nasal cavity epithelium	UBERON:0005384	74.58	gold quality
endothelial cell	CL:0000115	74.31	gold quality
mucosa of paranasal sinus	UBERON:0005030	73.87	gold quality
epithelial cell of pancreas	CL:0000083	72.82	gold quality
islet of Langerhans	UBERON:0000006	70.02	gold quality
buccal mucosa cell	CL:0002336	69.88	silver quality
testis	UBERON:0000473	69.17	gold quality
body of pancreas	UBERON:0001150	68.82	gold quality
pancreas	UBERON:0001264	68.46	gold quality
right testis	UBERON:0004534	68.38	gold quality
left testis	UBERON:0004533	67.80	gold quality
right lobe of liver	UBERON:0001114	65.97	gold quality
bronchial epithelial cell	CL:0002328	65.22	silver quality
amniotic fluid	UBERON:0000173	64.36	gold quality
bronchus	UBERON:0002185	64.09	silver quality
prostate gland	UBERON:0002367	62.85	gold quality
ileal mucosa	UBERON:0000331	62.82	silver quality
cauda epididymis	UBERON:0004360	62.74	gold quality
adult organism	UBERON:0007023	62.73	silver quality
superficial temporal artery	UBERON:0001614	62.71	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-75140	yes	319.93
E-GEOD-93593	yes	238.25
E-ANND-3	yes	4.86
E-GEOD-124858	no	52.11
E-GEOD-81608	no	37.24
E-MTAB-6142	no	18.03

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

22 targets.

Target	Regulation
ABCA3	Activation
ABCG2	Activation
BMI1	Activation
CDH1	Repression
CECR2	Activation
EPCAM
HOXA9	Activation
KIT
KRT19
LTA	Repression
NANOG	Activation
POU5F1	Unknown
PTEN	Repression
RUNX1	Activation
SALL1	Repression
SALL3	Repression
SALL4	Unknown
SOX17	Activation
SOX2	Unknown
TNF	Activation
TSC1
ZEB1	Activation

Upstream regulators (CollecTRI, top): LEF1, POU5F1, SALL3, SALL4, STAT3, TBX5, TCF7L2

miRNA regulators (miRDB)

123 targeting SALL4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Okihiro syndrome is caused by SALL4 mutations (PMID:12393809)
• The first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes. (PMID:12395297)
• Mutations and birth defects caused by thalidomide exposure. (PMID:15329836)
• Okihiro syndrome may also be caused by heterozygous deletions either of the whole SALL4 coding region or of single exons (PMID:15342710)
• no SALL4 mutations in twenty-five Duane Tretration “syndrome” patients (PMID:15386473)
• analysis of SALL4 defects and associated syndromes (including Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome) and description of the clinical distinctions with similar phenotypes caused by other gene defects (PMID:16086360)
• A novel nonsense mutation in the SALL4 gene was detected in all affected family members and obligate carriers. (PMID:16411190)
• SALL4 is constitutively expressed in primary acute myeloid leukemia (PMID:16763212)
• mutation in the SALL4 gene causes IVIC syndrome(an autosomal dominant condition,hearing loss, heart murmur..) (PMID:17256792)
• Results implied a possible association between epigenetic silencing of SALL4 and tumor cell aneuploidy. (PMID:17546590)
• BMI1 is a target gene for SALL4 in leukemic cells. (PMID:17557835)
• The detection and molecular characterization of four novel, overlapping microdeletions, all spanning SALL4 and flanking genes, in four unrelated cases with features of Okihiro syndrome and variable degrees of psychomotor delay, is reported. (PMID:17623483)
• A not previously described mutation of the SALL4 gene in exon 4. (PMID:18299846)
• the reprogramming activity of Sall4 is independent of an N-terminal domain implicated in recruiting the nucleosome remodeling and deacetylase corepressor complex, a global transcriptional repressor (PMID:18414659)
• mapped the global gene targets of SALL4 and identified more than 2000 high-confidence, SALL4-binding genes in the human acute promyelocytic leukemic cell line, NB4 (PMID:18487508)
• SALL4 and BMI-1 expressions are up-regulated significantly in acute leukemia. (PMID:19099625)
• Down-regulation of the STAT3 activity using a dominant-negative construct resulted in a significant decrease in the expression of SALL4. (PMID:19151334)
• Studies indicate that vertebrate sal orthologues (spalt-like/sall) have important developmental roles during neural development and organogenesis and gentic diseases. (PMID:19247946)
• SALL4 is a novel sensitive and specific marker for ovarian primitive germ cell tumors (PMID:19295406)
• SALL4 is a novel sensitive and relatively specific marker for testicular germ cell tumors (PMID:19390421)
• Data demonstrate that stem cell protein SALL4 represses its target genes, PTEN and SALL1, through the epigenetic repressor Mi-2/NuRD complex. (PMID:19440552)
• These results demonstrated that Sall4 plays positive roles in the generation of pluripotent stem cells from blastocysts and fibroblasts. (PMID:19476507)
• SALL4 is a more sensitive marker than PLAP, AFP, or glypican-3 for extragonadal yolk sac tumors. (PMID:19574883)
• This is the first report to suggest that SALL4 might be a potential candidate gene of premature ovarian failure. (PMID:19581335)
• SALL4 may be a potential candidate gene for ventricular septal defect. (PMID:19619907)
• SALL4 plays a critical role in the pathogenesis of MDS by causing the aberrant activation of the Wnt/beta-catenin pathway. (PMID:19781444)
• SALL4 is a novel sensitive diagnostic marker for primary germ cell tumors of the central nervous system. (PMID:19820689)
• SALL4 is a sensitive marker for AFP-producing gastric carcinoma and is especially useful to distinguish hepatoid gastric carcinoma from hepatocellular carcinoma. (PMID:20182341)
• SALL4 is a master regulator that controls its own expression and the expression of OCT4. (PMID:20505821)
• For primary extragonadal yolk sac tumors, combining LIN28 and SALL4 can achieve a higher diagnostic sensitivity than either alone. (PMID:21057460)
• High SALL4 expression is associated with Wilms tumors. (PMID:21258884)
• SALL4 is essential for cancer cell proliferation and is overexpressed at early clinical stages in breast cancer (PMID:21274508)
• No genetic variations were detected in the coding region and in the neighboring intronic regions of the SALL4 gene suggesting an alternative mechanism in the pathogenesis (PMID:21405998)
• Of the 16 malignant rhabdoid tumors, 14 (88%) tumors showed robust SALL4 and/or LIN28 expression. (PMID:21417895)
• SALL4 has an important role in the proliferation and survival of CML cells & its expression is associated with an advanced stage of CML disease. This is mediated by the Bmi-1 pathway. (PMID:21468036)
• SALL4 was able to bind to the promoter region of ABCA3 and activate its expression while regulating the expression of ABCG2 indirectly. (PMID:21526180)
• SALL4 mRNA was highly expressed even in the early clinical stages and there was no difference in the positivity rate between stage IA and other stagesin lung cancer. (PMID:21725617)
• stem cell self-renewal mediated by SALL4 via epigenetic machinery. (PMID:22128185)
• SALL4 is a more sensitive and specific marker for yolk sac tumors than glypican-3 (PMID:22448662)
• Alpha-fetoprotein-producing gastric carcinoma and combined hepatocellular and cholangiocarcinoma show similar morphology but different histogenesis with respect to SALL4 expression. (PMID:22516245)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sall4	ENSDARG00000044485
mus_musculus	Sall4	ENSMUSG00000027547
rattus_norvegicus	Sall4	ENSRNOG00000050035

Paralogs (14): HIVEP2 (ENSG00000010818), HIVEP1 (ENSG00000095951), ZNF516 (ENSG00000101493), SALL1 (ENSG00000103449), BCL11A (ENSG00000119866), ZNF831 (ENSG00000124203), RREB1 (ENSG00000124782), HIVEP3 (ENSG00000127124), BCL11B (ENSG00000127152), ZNF219 (ENSG00000165804), SALL2 (ENSG00000165821), ZNF217 (ENSG00000171940), ZNF536 (ENSG00000198597), SALL3 (ENSG00000256463)

Protein

Protein identifiers

Sal-like protein 4 — Q9UJQ4 (reviewed: Q9UJQ4)

Alternative names: Zinc finger protein 797, Zinc finger protein SALL4

All UniProt accessions (2): Q9UJQ4, Q6Y8G5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.

Subunit / interactions. Interacts with POU5F1/OCT4. Interacts with NANOG. Interacts with BEND3. Interacts with NSD2 (via PHD-type zinc fingers 1, 2 and 3). Interacts with NRBP1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).

Post-translational modifications. Isoform SALL4B exists primarily as a ubiquitinated form. Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4.

Disease relevance. Duane-radial ray syndrome (DRRS) [MIM:607323] Disorder characterized by the association of forearm malformations with Duane retraction syndrome. The disease is caused by variants affecting the gene represented in this entry. IVIC syndrome (IVIC) [MIM:147750] An autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome with a similar phenotype. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the sal C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UJQ4-1	SALL4A	yes
Q9UJQ4-2	SALL4B

RefSeq proteins (2): NP_001304960, NP_065169* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051565	Sal_C2H2-zinc-finger	Family

Pfam: PF00096

UniProt features (74 total): cross-link 19, zinc finger region 8, region of interest 7, compositionally biased region 7, modified residue 7, strand 6, turn 6, helix 6, sequence variant 3, sequence conflict 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
7BQV	X-RAY DIFFRACTION	1.8
7BQU	X-RAY DIFFRACTION	1.9
8CUC	X-RAY DIFFRACTION	2.09
7Y3I	X-RAY DIFFRACTION	2.45
7Y3K	X-RAY DIFFRACTION	2.5
5XWR	X-RAY DIFFRACTION	2.69
9NWS	ELECTRON MICROSCOPY	2.7
9NWT	ELECTRON MICROSCOPY	2.7
7Y3M	X-RAY DIFFRACTION	2.72
8U16	X-RAY DIFFRACTION	2.9
8U15	X-RAY DIFFRACTION	2.95
8U17	X-RAY DIFFRACTION	3.1
6UML	X-RAY DIFFRACTION	3.58

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJQ4-F1	51.86	0.03

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (26): 57, 307, 541, 776, 789, 852, 1019, 156, 156, 175, 190, 290, 316, 316, 372, 374, 374, 436, 550, 597 …

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-2892247	POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
R-HSA-452723	Transcriptional regulation of pluripotent stem cells
R-HSA-8943724	Regulation of PTEN gene transcription
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-6807070	PTEN Regulation
R-HSA-9006925	Intracellular signaling by second messengers

MSigDB gene sets: 492 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_GROWTH, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, GOBP_INNER_CELL_MASS_CELL_PROLIFERATION, MUELLER_PLURINET, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_APPENDAGE_DEVELOPMENT, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_CARDIAC_VENTRICLE_DEVELOPMENT, GOBP_MAINTENANCE_OF_CELL_NUMBER

GO Biological Process (12): negative regulation of transcription by RNA polymerase II (GO:0000122), inner cell mass cell proliferation (GO:0001833), neural tube closure (GO:0001843), ventricular septum development (GO:0003281), regulation of transcription by RNA polymerase II (GO:0006357), embryonic limb morphogenesis (GO:0030326), somatic stem cell population maintenance (GO:0035019), positive regulation of transcription by RNA polymerase II (GO:0045944), in utero embryonic development (GO:0001701), heart development (GO:0007507), tissue development (GO:0009888), neural tube development (GO:0021915)

GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): heterochromatin (GO:0000792), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Transcriptional regulation of pluripotent stem cells	1
Developmental Biology	1
PTEN Regulation	1
Intracellular signaling by second messengers	1
PIP3 activates AKT signaling	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
chordate embryonic development	2
chromatin	2
cellular anatomical structure	2
negative regulation of DNA-templated transcription	1
blastocyst growth	1
cell population proliferation	1
primary neural tube formation	1
tube closure	1
cardiac ventricle development	1
cardiac septum development	1
regulation of DNA-templated transcription	1
limb morphogenesis	1
embryonic appendage morphogenesis	1
stem cell population maintenance	1
positive regulation of DNA-templated transcription	1
animal organ development	1
circulatory system development	1
anatomical structure development	1
nervous system development	1
tube development	1
epithelium development	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cellular_component	1

Protein interactions and networks

STRING

2186 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SALL4	NANOG	Q9H9S0	997
SALL4	POU5F1	P31359	955
SALL4	ESRRB	O95718	919
SALL4	SOX2	P48431	901
SALL4	NR0B1	P51843	888
SALL4	NSD2	O96028	874
SALL4	CHN1	P15882	823
SALL4	TBX3	O15119	819
SALL4	CCNQ	Q8N1B3	785
SALL4	TBX5	Q99593	769
SALL4	CTNNB1	P35222	741
SALL4	LIN28A	Q9H9Z2	733
SALL4	NKX2-5	P52952	726
SALL4	UTF1	Q5T230	719
SALL4	HOXA1	P49639	713

IntAct

6 interactions, top by confidence:

A	B	Type	Score
MBD3	CDK2AP1	psi-mi:“MI:0914”(association)	0.730
SALL4	MBD3	psi-mi:“MI:0914”(association)	0.530
Mta1	MTA3	psi-mi:“MI:0914”(association)	0.350
SALL1	MTA2	psi-mi:“MI:0914”(association)	0.350
SALL4	MTA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (51): SALL4 (Affinity Capture-MS), SALL4 (Affinity Capture-MS), SALL4 (Affinity Capture-MS), SALL4 (Reconstituted Complex), SALL4 (Affinity Capture-MS), SALL4 (Affinity Capture-MS), SALL4 (Affinity Capture-Western), SALL4 (Affinity Capture-Western), EZH2 (Affinity Capture-Western), SALL4 (Reconstituted Complex), SALL4 (Biochemical Activity), SALL4 (Affinity Capture-MS), CRBN (Affinity Capture-Western), SALL4 (Biochemical Activity), SALL4 (Reconstituted Complex)

ESM2 similar proteins: A0A1L8GSA2, A0A1L8H0H2, A0JN51, A0JP82, A2AWL7, A2BGM5, A2RRX6, F8VPJ6, K9JHZ4, O13186, O46567, O54826, O89091, P04150, P08235, P15822, P22199, P32519, P36197, P37275, P48552, P55197, P59759, P79269, P79686, Q29131, Q2KHR2, Q3YC04, Q4JM28, Q5R9P5, Q60775, Q61321, Q62947, Q64318, Q68DE3, Q6XLJ0, Q8AYC1, Q8AYC2, Q8BMA5, Q8IZQ8

Diamond homologs: B0K011, E9Q6W4, P23803, P41995, P86413, Q08DS3, Q0IHB8, Q32NK7, Q3T135, Q567J8, Q5XJQ7, Q62255, Q66JF8, Q6AY34, Q7PN68, Q8I7Z8, Q8N2R0, Q8TAX0, Q8WUU4, Q91ZD1, Q9BXA9, Q9N5X6, Q9UJQ4, Q9VQS6, Q9VQS7, Q9VQU9, Q9WVG7, A1L2U9, A2A884, A2ANX9, B0X0K1, B0X9H6, B0XS89, B1WAZ8, B1WBU4, E9PZZ1, G5EBU4, O15090, O60315, O62836

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
SALL4	“up-regulates quantity by expression”	ABCA3	“transcriptional regulation”
SALL4	“up-regulates quantity by expression”	ABCG2	“transcriptional regulation”
SALL4	“up-regulates quantity by expression”	ZEB1	“transcriptional regulation”
SALL4	“down-regulates quantity by repression”	CDH1	“transcriptional regulation”
SALL4	“up-regulates quantity by expression”	HOXA9	“transcriptional regulation”
SALL4	“down-regulates quantity by repression”	PTEN	“transcriptional regulation”
SALL4	“down-regulates quantity by repression”	SALL1	“transcriptional regulation”
STAT3	“up-regulates quantity by expression”	SALL4	“transcriptional regulation”
SALL4	“up-regulates quantity by expression”	NANOG	“transcriptional regulation”
CRBN	“down-regulates quantity by destabilization”	SALL4	ubiquitination
CRBN	“down-regulates quantity by destabilization”	SALL4	binding
SALL4	“up-regulates quantity by expression”	CECR2	“transcriptional regulation”
SOX2/POU5F1	“up-regulates quantity by expression”	SALL4	“transcriptional regulation”

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — CLLSLL.

Clinical variants and AI predictions

ClinVar

603 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	42
Likely pathogenic	14
Uncertain significance	331
Likely benign	122
Benign	30

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1362243	NC_000020.10:g.(?50400804)(50418947_?)del	Pathogenic
1411759	NM_020436.5(SALL4):c.1959dup (p.Pro654fs)	Pathogenic
1415336	NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter)	Pathogenic
1455097	NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter)	Pathogenic
1684297	NM_020436.5(SALL4):c.1068del (p.Lys357fs)	Pathogenic
1697971	NM_020436.5(SALL4):c.712C>T (p.Gln238Ter)	Pathogenic
1806356	NM_020436.5(SALL4):c.2252del (p.Asn751fs)	Pathogenic
2015460	NM_020436.5(SALL4):c.2280dup (p.Asn761fs)	Pathogenic
2035463	NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter)	Pathogenic
2087818	NM_020436.5(SALL4):c.474_475del (p.Glu158fs)	Pathogenic
218947	NM_020436.5(SALL4):c.410dup (p.Gly138fs)	Pathogenic
2412780	NM_020436.5(SALL4):c.1625del (p.Pro542fs)	Pathogenic
2501946	NM_020436.5(SALL4):c.1829_1833dup (p.His612fs)	Pathogenic
2502302	NM_020436.5(SALL4):c.2456dup (p.Met819fs)	Pathogenic
2633659	NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)	Pathogenic
2728404	NM_020436.5(SALL4):c.1994_1995del (p.Phe665fs)	Pathogenic
2756162	NM_020436.5(SALL4):c.2424dup (p.Ala809fs)	Pathogenic
3318	NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter)	Pathogenic
3319	NM_020436.5(SALL4):c.1054del (p.Ala352fs)	Pathogenic
3320	NM_020436.5(SALL4):c.941dup (p.Leu315fs)	Pathogenic
3321	NM_020436.5(SALL4):c.1904del (p.Phe635fs)	Pathogenic
3323	NM_020436.5(SALL4):c.2425del (p.Ala809fs)	Pathogenic
3324	NM_020436.5(SALL4):c.326del (p.Pro109fs)	Pathogenic
3325	NM_020436.5(SALL4):c.523A>T (p.Lys175Ter)	Pathogenic
3326	NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter)	Pathogenic
3329	NM_020436.5(SALL4):c.2663A>G (p.His888Arg)	Pathogenic
3330	NM_020436.5(SALL4):c.2607del (p.Gln869fs)	Pathogenic
3347440	NM_020436.5(SALL4):c.2241_2248delinsTT (p.Ser748_Glu750delinsTer)	Pathogenic
3362635	NM_020436.5(SALL4):c.1557del (p.Thr520fs)	Pathogenic
3639620	NM_020436.5(SALL4):c.1291C>T (p.Arg431Ter)	Pathogenic

SpliceAI

614 predictions. Top by Δscore:

Variant	Effect	Δscore
20:51784680:TGAAC:T	acceptor_gain	1.0000
20:51784681:GAAC:G	acceptor_gain	1.0000
20:51784683:ACC:A	acceptor_loss	1.0000
20:51784685:C:CC	acceptor_gain	1.0000
20:51784685:CTAT:C	acceptor_loss	1.0000
20:51792351:ACC:A	acceptor_loss	1.0000
20:51792353:C:CC	acceptor_gain	1.0000
20:51792353:CTGTA:C	acceptor_loss	1.0000
20:51802277:AC:A	donor_gain	1.0000
20:51802278:CC:C	donor_gain	1.0000
20:51802278:CCCAG:C	donor_gain	1.0000
20:51784682:AAC:A	acceptor_gain	0.9900
20:51784683:AC:A	acceptor_gain	0.9900
20:51784684:CCTA:C	acceptor_gain	0.9900
20:51784687:A:AC	acceptor_gain	0.9900
20:51784687:A:C	acceptor_gain	0.9900
20:51784694:C:CT	acceptor_gain	0.9900
20:51784695:A:T	acceptor_gain	0.9900
20:51788857:CCAC:C	donor_loss	0.9900
20:51788857:CCACC:C	donor_gain	0.9900
20:51788859:A:AT	donor_loss	0.9900
20:51788860:CCT:C	donor_loss	0.9900
20:51788870:G:A	donor_gain	0.9900
20:51789939:T:A	donor_gain	0.9900
20:51790024:T:TA	donor_gain	0.9900
20:51792349:GCAC:G	acceptor_gain	0.9900
20:51792350:CAC:C	acceptor_gain	0.9900
20:51792350:CACC:C	acceptor_gain	0.9900
20:51792351:AC:A	acceptor_gain	0.9900
20:51792352:CC:C	acceptor_gain	0.9900

AlphaMissense

6920 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:51784681:G:C	H916D	1.000
20:51788865:A:G	L913S	1.000
20:51788867:G:C	N912K	1.000
20:51788867:G:T	N912K	1.000
20:51788872:C:G	G911R	1.000
20:51788882:A:C	F907L	1.000
20:51788882:A:T	F907L	1.000
20:51788883:A:G	F907S	1.000
20:51788884:A:G	F907L	1.000
20:51788894:A:C	C903W	1.000
20:51788895:C:T	C903Y	1.000
20:51788896:A:G	C903R	1.000
20:51788903:G:C	C900W	1.000
20:51788905:A:G	C900R	1.000
20:51788927:G:C	H892Q	1.000
20:51788927:G:T	H892Q	1.000
20:51788934:C:G	R890P	1.000
20:51788939:G:C	H888Q	1.000
20:51788939:G:T	H888Q	1.000
20:51788941:G:C	H888D	1.000
20:51788941:G:T	H888N	1.000
20:51788966:G:C	F879L	1.000
20:51788966:G:T	F879L	1.000
20:51788967:A:G	F879S	1.000
20:51788968:A:G	F879L	1.000
20:51790551:A:C	H644Q	1.000
20:51790551:A:T	H644Q	1.000
20:51790552:T:G	H644P	1.000
20:51790578:G:C	F635L	1.000
20:51790578:G:T	F635L	1.000

dbSNP variants (sampled 300 via entrez): RS1000011679 (20:51792676 G>A), RS1000076739 (20:51793905 G>A), RS1000232958 (20:51799305 A>C,G), RS1000362657 (20:51785646 G>A,C,T), RS1000447884 (20:51797469 C>T), RS1000457860 (20:51797381 C>T), RS1000490560 (20:51797793 T>C), RS1000589490 (20:51792831 T>C), RS1000652774 (20:51791352 C>T), RS1000714156 (20:51785381 A>G), RS1000717553 (20:51792576 C>T), RS1001183024 (20:51803847 T>C), RS1001422484 (20:51784658 G>A), RS1001443340 (20:51781894 A>G), RS1001525601 (20:51785545 A>G)

Disease associations

OMIM: gene MIM:607343 | disease phenotypes: MIM:607323, MIM:147750, MIM:601457, MIM:610805

GenCC curated gene-disease

Disease	Classification	Inheritance
Duane-radial ray syndrome	Definitive	Autosomal dominant
IVIC syndrome	Supportive	Autosomal dominant
Duane retraction syndrome	Supportive	Autosomal dominant

Mondo (6): Duane-radial ray syndrome (MONDO:0011812), IVIC syndrome (MONDO:0007836), severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive (MONDO:0011086), congenital heart disease (MONDO:0005453), congenital anomaly of kidney and urinary tract (MONDO:0019719), Duane retraction syndrome (MONDO:0007473)

Orphanet (5): Okihiro syndrome (Orphanet:93293), Acro-renal-ocular syndrome (Orphanet:959), IVIC syndrome (Orphanet:2307), Severe combined immunodeficiency due to complete RAG1/2 deficiency (Orphanet:331206), Renal or urinary tract malformation (Orphanet:93545)

HPO phenotypes

151 total (30 of 151 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000015	Bladder diverticulum
HP:0000076	Vesicoureteral reflux
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0000089	Renal hypoplasia
HP:0000104	Renal agenesis
HP:0000126	Hydronephrosis
HP:0000143	Rectovaginal fistula
HP:0000175	Cleft palate
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000384	Preauricular skin tag
HP:0000402	Stenosis of the external auditory canal
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000452	Choanal stenosis
HP:0000453	Choanal atresia
HP:0000463	Anteverted nares
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000480	Retinal coloboma
HP:0000482	Microcornea

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000412_1	Male infertility	5.000000e-07
GCST002682_15	Tourette’s syndrome or obsessive-compulsive disorder	8.000000e-06
GCST011053_13	Neuroblastoma (pediatric)	1.000000e-10

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D004370	Duane Retraction Syndrome	C10.292.562.700.375.500; C11.270.235; C11.590.436.400.500; C16.320.290.235
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
C566906	Cakut (supp.)
C535544	Oculootoradial syndrome (supp.)
C563311	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL4879536 (PROTEIN-PROTEIN INTERACTION), CHEMBL6067463 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

25 potent at pChembl≥5 of 25 total, top 25 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.72	EC50	19	nM	CHEMBL5618808
7.12	EC50	75	nM	CHEMBL5618646
6.96	IC50	109	nM	CHEMBL5804153
6.80	EC50	160	nM	CHEMBL5619144
6.79	IC50	162	nM	CHEMBL4548728
6.77	EC50	170	nM	CHEMBL5620230
6.54	IC50	288	nM	CHEMBL5918901
6.47	IC50	335	nM	CHEMBL5856428
6.39	EC50	410	nM	CHEMBL5618477
6.36	IC50	434	nM	CHEMBL5967769
6.30	IC50	498	nM	CHEMBL6003258
6.25	EC50	560	nM	CHEMBL5618970
6.23	IC50	594	nM	CHEMBL5936883
6.21	IC50	619	nM	CHEMBL5761009
6.21	IC50	623	nM	CHEMBL5816357
6.21	IC50	616	nM	CHEMBL6006795
6.11	IC50	783	nM	CHEMBL5849668
5.87	IC50	1357	nM	CHEMBL5872511
5.82	IC50	1506	nM	CHEMBL5852700
5.65	IC50	2231	nM	CHEMBL5996102
5.62	EC50	2400	nM	CHEMBL5618377
5.60	IC50	2489	nM	CHEMBL5990283
5.56	IC50	2770	nM	CHEMBL5837395
5.55	EC50	2800	nM	CHEMBL5619492
5.44	EC50	3600	nM	CHEMBL5619824

PubChem BioAssay actives

9 with measured affinity, of 56 total; 9 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2,2,2-trichloroethyl (1S)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-4-yl]cycloprop-2-ene-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	0.0190	uM
2,2,2-trichloroethyl (1R)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]cycloprop-2-ene-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	0.0750	uM
trans-2,2,2-trichloroethyl (1S,2R)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-5-yl]cyclopropane-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	0.1600	uM
2,2,2-trichloroethyl (1R)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1-oxo-3H-isoindol-4-yl]cycloprop-2-ene-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	0.1700	uM
trans-2,2,2-trichloroethyl (1S,2R)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]cyclopropane-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	0.4100	uM
2,2,2-trichloroethyl (1S)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]cycloprop-2-ene-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	0.5600	uM
2,2,2-trichloroethyl (1R)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]cycloprop-2-ene-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	2.4000	uM
2,2,2-trichloroethyl (1R)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]cycloprop-2-ene-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	2.8000	uM
2,2,2-trichloroethyl (1S)-1-(4-bromophenyl)-2-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-5-yl]cycloprop-2-ene-1-carboxylate	2130920: Induction of C-terminal HiBiT tag knocked in SALL4 degradation in human NCCIT cells incubated for 60 mins by Nano-Glo HiBiT lytic reagent based assay	ec50	3.6000	uM

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	6
trichostatin A	affects cotreatment, decreases expression	3
TAK-243	decreases reaction, increases degradation, decreases sumoylation, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	2
Resveratrol	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression	2
GSK-J4	decreases expression	1
Esketamine	decreases expression	1
sotorasib	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
ginsenoside Rg3	decreases expression	1
pomalidomide	affects binding, decreases expression, increases degradation	1
dorsomorphin	affects cotreatment, decreases expression	1
pevonedistat	decreases expression, decreases reaction, increases degradation	1
LDN 193189	affects cotreatment, decreases expression	1
trametinib	affects cotreatment, decreases expression	1
N-(2-(3H-indol-3-yl)ethyl)-9-isopropyl-2-(5-methyl-3-pyridyl)purin-6-amine	increases expression, decreases reaction	1
NVP-BKM120	affects cotreatment, decreases expression	1
Bortezomib	decreases expression, decreases reaction, increases degradation	1
Sunitinib	decreases expression	1
Lenalidomide	affects binding, decreases expression, increases degradation	1
Vorinostat	affects cotreatment, decreases expression	1

ChEMBL screening assays

12 unique, capped per target: 12 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4822141	Binding	Protac activity at CRBN/SALL4 in human Kelly cells assessed as induction of SALL4 degradation by measuring downregulation of SALL4 protein expression at 1 uM measured after 5 hrs by proteomics analysis based LC-MS analysis	A biphenyl inhibitor of eIF4E targeting an internal binding site enables the design of cell-permeable PROTAC-degraders. — Eur J Med Chem

Cellosaurus cell lines

7 cell lines: 3 embryonic stem cell, 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A6A9	SEES3-1V human SALL4, clone1	Embryonic stem cell	Male
CVCL_A6B0	SEES3-1V human SALL4, clone2	Embryonic stem cell	Male
CVCL_A6B1	SEES3-1V human SALL4, clone3	Embryonic stem cell	Male
CVCL_B8P5	Abcam HCT 116 SALL4 KO	Cancer cell line	Male
CVCL_B9BD	Abcam MCF-7 SALL4 KO	Cancer cell line	Female
CVCL_B9RH	Abcam A-549 SALL4 KO	Cancer cell line	Male
CVCL_HC92	HEK293 eGFP-SALL4	Transformed cell line	Female

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262	PHASE3	COMPLETED	Intraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137	PHASE3	COMPLETED	Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476	PHASE3	COMPLETED	Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194	PHASE3	COMPLETED	Dopamine Versus Norepinephrine Under General Anesthesia
NCT04702373	PHASE3	ACTIVE_NOT_RECRUITING	Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590	PHASE3	COMPLETED	Acute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517	PHASE3	UNKNOWN	Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674	PHASE3	RECRUITING	Effect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260	PHASE3	NOT_YET_RECRUITING	SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT00115375	PHASE2	COMPLETED	Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO)
NCT00350220	PHASE2	COMPLETED	Transfusion Strategies in Pediatric Cardiothoracic Surgery
NCT00374088	PHASE2	COMPLETED	N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
NCT00538785	PHASE2	COMPLETED	A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease
NCT00770705	PHASE2	WITHDRAWN	Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery
NCT00919945	PHASE2	TERMINATED	Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn
NCT01063712	PHASE2	COMPLETED	Safety and Effectiveness of the Device Nit-Occlud® PDA-R
NCT01069510	PHASE2	COMPLETED	Spironolactone in Adult Congenital Heart Disease
NCT01189981	PHASE2	COMPLETED	Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease
NCT01330433	PHASE2	COMPLETED	Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery
NCT01662037	PHASE2	COMPLETED	Bosentan Therapy in Children With Functional Single Ventricle
NCT01668264	PHASE2	UNKNOWN	Imaging Assessment of Diastolic Function
NCT01827059	PHASE2	UNKNOWN	Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE