SETBP1

Summary

SETBP1 (SET binding protein 1, HGNC:15573) is a protein-coding gene on chromosome 18q12.3, encoding SET-binding protein (Q9Y6X0). It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 26040 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 63
• Clinical variants (ClinVar): 1,885 total — 90 pathogenic, 35 likely-pathogenic
• Phenotypes (HPO): 178
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_015559

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15573
Approved symbol	SETBP1
Name	SET binding protein 1
Location	18q12.3
Locus type	gene with protein product
Status	Approved
Aliases	SEB, KIAA0437
Ensembl gene	ENSG00000152217
Ensembl biotype	protein_coding
OMIM	611060
Entrez	26040

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000426838, ENST00000645568, ENST00000649279, ENST00000677068, ENST00000677077, ENST00000677130, ENST00000677699, ENST00000678152, ENST00000869552

RefSeq mRNA: 5 — MANE Select: NM_015559 NM_001130110, NM_001379141, NM_001379142, NM_001410862, NM_015559

CCDS: CCDS11923, CCDS45859, CCDS92452

Canonical transcript exons

ENST00000649279 — 6 exons

Exon	Start	End
ENSE00001004034	44949881	44953340
ENSE00001173571	45038485	45038655
ENSE00001173581	44869230	44869283
ENSE00001265378	45063079	45068510
ENSE00001380989	44701175	44701832
ENSE00003835556	44680888	44681021

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 94.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.1742 / max 172.9274, expressed in 1010 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170094	1.7597	670
170096	0.9153	393
170093	0.8010	321
170098	0.6088	259
170097	0.4509	222
170104	0.2487	98
170095	0.1969	101
170099	0.1169	38
170100	0.0761	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	94.18	gold quality
buccal mucosa cell	CL:0002336	93.92	gold quality
caput epididymis	UBERON:0004358	93.52	gold quality
saphenous vein	UBERON:0007318	93.33	gold quality
ganglionic eminence	UBERON:0004023	93.13	gold quality
cauda epididymis	UBERON:0004360	92.64	gold quality
urethra	UBERON:0000057	92.60	gold quality
cortical plate	UBERON:0005343	92.59	gold quality
seminal vesicle	UBERON:0000998	92.29	gold quality
superficial temporal artery	UBERON:0001614	92.23	gold quality
corpus epididymis	UBERON:0004359	91.52	gold quality
visceral pleura	UBERON:0002401	90.22	gold quality
tibia	UBERON:0000979	90.19	gold quality
endothelial cell	CL:0000115	90.08	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.00	gold quality
calcaneal tendon	UBERON:0003701	89.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.92	gold quality
biceps brachii	UBERON:0001507	88.83	gold quality
pericardium	UBERON:0002407	88.80	gold quality
vastus lateralis	UBERON:0001379	88.36	gold quality
mammary duct	UBERON:0001765	88.31	gold quality
synovial joint	UBERON:0002217	88.19	gold quality
cerebellar vermis	UBERON:0004720	88.15	gold quality
renal medulla	UBERON:0000362	87.95	gold quality
quadriceps femoris	UBERON:0001377	87.85	gold quality
skin of hip	UBERON:0001554	87.81	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	87.79	gold quality
epithelium of mammary gland	UBERON:0003244	87.76	gold quality
lower lobe of lung	UBERON:0008949	87.68	gold quality
tibialis anterior	UBERON:0001385	86.84	silver quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	69.84
E-HCAD-25	yes	38.14
E-CURD-119	yes	37.31
E-ANND-3	yes	11.18

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

6 targets.

Target	Regulation
CDKN2A
HOXA10	Activation
HOXA9	Activation
PTGER2	Repression
PTGS2	Repression
PTPA	Repression

Upstream regulators (CollecTRI, top): HOXA10, HOXA9

miRNA regulators (miRDB)

36 targeting SETBP1, 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-9-5P	100.00	72.28	2361
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-3611	98.76	68.76	1290
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-147A	98.33	66.40	795
HSA-MIR-6881-5P	98.16	67.38	665
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-3190-3P	97.61	66.95	1406
HSA-MIR-708-3P	97.50	68.67	1082
HSA-MIR-2355-3P	96.84	68.54	909

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• Correction of X-linked chronic granulomatous disease by gene therapy was augmented by insertional activation of SETBP1. (PMID:16582916)
• We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four (PMID:20436468)
• Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. (PMID:21037274)
• study of 2 unrelated Thai patients with clinical manifestations fulfilling criteria of Schinzel-Giedion syndrome; demonstrate SETBP1 is gene responsible for SGS in Thai patients confirming previous report of this gene associated with SGS in Caucasians (PMID:21371013)
• We describe a patient with a 18q12.3 microdeletion that causes the disruption of SETBP1 resulting in mild mental retardation and expressive speech impairment with striking discrepancy between expressive and receptive language skills. (PMID:22333924)
• mutated SETBP1 represents a newly discovered oncogene present in Atypical chronic myeloid leukemia (aCML) and closely related diseases. (PMID:23222956)
• In MDS and sAML, the rare mutations in SETBP1 might be associated with distinct cytogenetic aberrations involving chromosomes 3 and 7. (PMID:23443343)
• SETBP1 mutations are associated with chronic myelomonocytic leukemia. (PMID:23558523)
• CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. (PMID:23604229)
• SETBP1 mutations represent an important novel molecular marker, which is highly associated with aCML, the MDS/MPN overlap category and a dysplastic phenotype. (PMID:23628959)
• SETBP1 mutation is associated with myelodysplastic syndromes and acute myeloid leukemia. (PMID:23648668)
• Mutations of SETBP1 and JAK3 were common recurrent secondary events presumed to be involved in tumor progression and were associated with poor clinical outcomes. (PMID:23832011)
• Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML. (PMID:23832012)
• The data suggest that SETBP1 mutations may play a role in myelodysplastic syndromes and chronic myelomonocytic leukaemia disease progression. (PMID:23889083)
• SETBP1 mutations were found in 4.8% of patients with JMML in this study. (PMID:24117422)
• The SETBP1 mutation is associated with poor prognosis in MDS. The mutation can be acquired during the clinical course suggesting it may play a role in disease progression. (PMID:24127063)
• SETBP1 mutation might not be involved in the leukemogenisis of acute lymphoblastic leukemia (PMID:24359242)
• In univariate analysis, survival was adversely affected by ASXL1 (nonsense and frameshift) but not SETBP1 mutations for chronic myelomonocytic leukemia. (PMID:24695057)
• SETBP1 and SRSF2 are the most common somatic genetic abnormalities in patients with myeloid neoplasms carrying isochrmosome 17(q10), and may be important drivers of disease pathogenesis. (PMID:24796269)
• Low frequency of SETBP1 mutations have been found in 106 patients with therapy-related myeloid neoplasms. (PMID:24907359)
• SETBP1 mutations are critical drivers of ASXL1-mutated myelodysplastic syndrome. (PMID:25306901)
• mutation analysis of CSF3R, SETBP1 and CALR should be included in the diagnostic criteria for chronic neutrophilic leukemia (PMID:25316523)
• Mutations in SETBP1 are associated with juvenile myelomonocytic leukemia. (PMID:25395418)
• AML with RUNX1/RUNX1T1 rearrangement displayed c.2903C>T alteration in the mutational hotspot of SETBP1. (PMID:25553291)
• we described a patient not fulfilling the clinical criteria and showing mutation in SETBP1, we suggest that the facial gestalt associated with neurological involvement would be sufficient to indicate molecular analysis of this particular gene. (PMID:25663181)
• Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations. (PMID:25716545)
• The SETBP1 and ASXL1 mutations have pathogenetic roles in CSF3R-mutated chronic neutrophilic leukemia. (PMID:25850813)
• Data describe a new recurrent chromosome translocation, t(12;18)(q14-q15;q12-21), in lipomas and osteochondrolipoma resulting in HMGA2-SETBP1 fusion which suggest a close developmental relationship between the two tumor types. (PMID:26202160)
• we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with juvenile myelomonocytic leukemia, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1 (PMID:26980750)
• Current evidence shows that SETBP1 mutation is associated with a poor prognosis in patients with MDS and CMML, but not in patients with chronic neutrophilic leukemia. (PMID:28158286)
• we report here for the first time changes in the allele frequencies of CSF3R-T618I and SETBP1-G870S with response to ruxolitnib as well as insights into the clonal evolution of CNL under selective pressure from ruxolitinib. (PMID:28209656)
• SETBP1 mutation is associated with chronic myelomonocytic leukemia. (PMID:28209919)
• Results indicate a genotype-phenotype correlation in germline SET binding protein 1 (SETBP1) mutations spanning a molecular, cellular and clinical phenotype. (PMID:28346496)
• Somatic c.2608G > A (p.Gly870Ser) in the SETBP1 gene identified in a patient with Fnaconi anemia. (PMID:28419882)
• SETBP1 is a major oncogene in myeloid neoplasms, which cooperates with various genetic events and causes distinct phenotypes of myelodysplastic/myeloproliferative neoplasms and secondary acute myeloid leukemia. (PMID:28447248)
• Patients with SETBP1 hotspot mutations suffered from aggressive disease with rapid evolution and inferior overall survival. Patients with SETBP1 non-hotspot mutations had less aggressive disease and a more favorable prognosis. (PMID:28913558)
• SETBP1 mutations were a rare molecular event in acute myeloid leukemia and myelodysplastic syndrome patients (PMID:29549983)
• CIP2A- and SETBP1-mediated PP2A inhibition reveals AKT S473 phosphorylation to be a new biomarker in AML. (PMID:29703716)
• Data indicate a SET binding protein 1 (SETBP1) function that directly affects gene transcription. (PMID:29875417)
• an exploratory analysis was conducted to examine the relationship between SETBP1 and brain activation using functional magnetic resonance imaging in reading (PMID:30009840)

Cross-species orthologs

21 orthologs

Organism	Symbol	Gene ID
danio_rerio	setbp1	ENSDARG00000093799
mus_musculus	Setbp1	ENSMUSG00000024548
rattus_norvegicus	Setbp1	ENSRNOG00000016208
drosophila_melanogaster	ash1	FBGN0005386
drosophila_melanogaster	trr	FBGN0023518
drosophila_melanogaster	Set2	FBGN0030486
drosophila_melanogaster	CG4565	FBGN0037841
drosophila_melanogaster	G9a	FBGN0040372
drosophila_melanogaster	egg	FBGN0086908
caenorhabditis_elegans	set-32	WBGENE00008062
caenorhabditis_elegans		WBGENE00008206
caenorhabditis_elegans		WBGENE00008527
caenorhabditis_elegans		WBGENE00011729
caenorhabditis_elegans	met-1	WBGENE00016603
caenorhabditis_elegans		WBGENE00018023
caenorhabditis_elegans		WBGENE00019584
caenorhabditis_elegans		WBGENE00019690
caenorhabditis_elegans		WBGENE00019883
caenorhabditis_elegans		WBGENE00020006
caenorhabditis_elegans		WBGENE00020919
caenorhabditis_elegans		WBGENE00021282

Paralogs (19): KMT2C (ENSG00000055609), SETD1A (ENSG00000099381), SUV39H1 (ENSG00000101945), EZH2 (ENSG00000106462), EZH1 (ENSG00000108799), NSD2 (ENSG00000109685), ASH1L (ENSG00000116539), KMT2A (ENSG00000118058), SETDB2 (ENSG00000136169), SETD1B (ENSG00000139718), SETDB1 (ENSG00000143379), NSD3 (ENSG00000147548), SUV39H2 (ENSG00000152455), NSD1 (ENSG00000165671), KMT2D (ENSG00000167548), EHMT1 (ENSG00000181090), SETD2 (ENSG00000181555), EHMT2 (ENSG00000204371), KMT2B (ENSG00000272333)

Protein

Protein identifiers

SET-binding protein — Q9Y6X0 (reviewed: Q9Y6X0)

All UniProt accessions (2): Q9Y6X0, A0A7I2V4X1

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with SET.

Subcellular location. Nucleus.

Tissue specificity. Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ cells; expression levels are higher in myeloid malignancies.

Disease relevance. Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150] A disorder characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia. The disease is caused by variants affecting the gene represented in this entry. SETBP1 somatic mutations are frequently found in myeloid malignancies. They cause gain of function associated with myeloid leukemic transformation. Myeloid malignancies are separated into three main categories: myeloproliferative neoplasms (MPN) characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood, myelodysplastic syndromes (MDS) and MDS/MPN. The MDS/MPN category shows overlapping characteristics of both MDS and MPN and includes chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia (ACML) and unclassified MDS/MPN. Myelodysplastic syndrome (MDS) [MIM:614286] A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). The gene represented in this entry is involved in disease pathogenesis. Intellectual developmental disorder, autosomal dominant 29 (MRD29) [MIM:616078] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry. Leukemia, acute myelogenous (AML) [MIM:601626] A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. The gene represented in this entry is involved in disease pathogenesis. Leukemia, chronic myeloid, atypical (ACML) [MIM:608232] A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient’s weight loss. The gene represented in this entry is involved in disease pathogenesis. Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. The gene represented in this entry is involved in disease pathogenesis.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y6X0-1	1	yes
Q9Y6X0-2	2

RefSeq proteins (5): NP_001123582, NP_001366070, NP_001366071, NP_001397791, NP_056374* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR017956	AT_hook_DNA-bd_motif	Conserved_site

UniProt features (64 total): sequence variant 26, region of interest 14, compositionally biased region 14, repeat 3, DNA-binding region 3, splice variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6X0-F1	43.30	0.01

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 (1): 817

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 620 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, MODULE_66, chr18q12, DELYS_THYROID_CANCER_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, ACATTCC_MIR1_MIR206, TATA_C, HOEBEKE_LYMPHOID_STEM_CELL_UP, SABATES_COLORECTAL_ADENOMA_DN, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_DENDRITIC_CELL, VECCHI_GASTRIC_CANCER_EARLY_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_CHROMATIN_REMODELING, MODULE_11, NOUZOVA_METHYLATED_IN_APL

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), chromatin remodeling (GO:0006338)

GO Molecular Function (3): DNA binding (GO:0003677), histone H3K4 methyltransferase activity (GO:0042800), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
chromatin organization	1
nucleic acid binding	1
protein-lysine N-methyltransferase activity	1
histone H3 methyltransferase activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nucleoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1990 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SETBP1	ASXL1	Q8IXJ9	876
SETBP1	NUP98	P52948	805
SETBP1	EPHX2	P34913	790
SETBP1	U2AF1	Q01081	778
SETBP1	ZRSR2	Q15696	778
SETBP1	FUT2	Q10981	777
SETBP1	SRSF2	Q01130	774
SETBP1	TET2	Q6N021	728
SETBP1	CSF3R	Q99062	727
SETBP1	PHF6	Q8IWS0	718
SETBP1	RUNX1	Q01196	697
SETBP1	SET	Q01105	688
SETBP1	PRDM16	Q9HAZ2	673
SETBP1	EZH2	Q15910	673
SETBP1	NRAS	P01111	672

IntAct

50 interactions, top by confidence:

A	B	Type	Score
SETBP1	YAF2	psi-mi:“MI:0915”(physical association)	0.560
SPANXD	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
SETBP1	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
XAGE1A	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
SETBP1	SPANXA1	psi-mi:“MI:0915”(physical association)	0.560
SETBP1	SPANXC	psi-mi:“MI:0915”(physical association)	0.560
SETBP1	KIAA1147	psi-mi:“MI:0915”(physical association)	0.560
SETBP1	SUMO1P1	psi-mi:“MI:0915”(physical association)	0.560
	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
UBE2I	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
YAF2	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
SETBP1	SPANXD	psi-mi:“MI:0915”(physical association)	0.560
PLEKHF2	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
SETBP1	XAGE1A	psi-mi:“MI:0915”(physical association)	0.560
SPANXC	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
KIAA1147	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
SUMO1P1	SETBP1	psi-mi:“MI:0915”(physical association)	0.560
SETBP1		psi-mi:“MI:0915”(physical association)	0.560
SETBP1	UBE2I	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (37): PPP2CA (Affinity Capture-Western), SETBP1 (Two-hybrid), SETBP1 (Two-hybrid), SETBP1 (Two-hybrid), SETBP1 (Two-hybrid), SPANXA1 (Two-hybrid), KIAA1147 (Two-hybrid), SPANXD (Two-hybrid), SPANXC (Two-hybrid), PLEKHF2 (Two-hybrid), LRRC37A11P (Two-hybrid), SUMO1P1 (Two-hybrid), SETBP1 (Affinity Capture-RNA), SETBP1 (Affinity Capture-MS), SETBP1 (Affinity Capture-RNA)

ESM2 similar proteins: A2AG50, A2AUY4, A5X7A0, A7XYJ6, A8MW92, B7ZS37, D4A4L4, D4A666, E1B7L7, E7F888, F1QW93, F6NSX9, O60293, P59759, P78312, Q15652, Q3UH68, Q4G0F8, Q4V9H5, Q53TQ3, Q5EAW9, Q5ZJ69, Q5ZM88, Q63755, Q66JY2, Q68FE9, Q69ZK6, Q6ZU65, Q76L83, Q7YR76, Q80WC1, Q8AYC2, Q8BZ32, Q8C966, Q8CCJ9, Q8CGI1, Q8IZQ8, Q8K4J6, Q8R5I7, Q8VIM5

Diamond homologs: A7E2Z2, A8XI75, E9Q5F9, F4K1J4, O14026, O60016, O64827, O82175, O88491, O96028, P0CB22, P0CO28, P0CO29, P20659, P38827, P42124, P46995, P55200, P70351, Q03164, Q08BS4, Q15910, Q18221, Q1DR06, Q1DU03, Q1LY77, Q24742, Q28CQ7, Q28D84, Q2GWF3, Q2H988, Q2LAE1, Q2UMH3, Q2UTN6, Q32PH7, Q4I5R3, Q4IB50, Q4PB36, Q4PBL3, Q4R381

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SETBP1	“up-regulates quantity by expression”	HOXA10	“transcriptional regulation”
SETBP1	“up-regulates quantity by expression”	HOXA9	“transcriptional regulation”
SETBP1	up-regulates	SET	binding

Disease & clinical

Cancer significance

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

Clinical variants and AI predictions

ClinVar

1885 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	90
Likely pathogenic	35
Uncertain significance	770
Likely benign	630
Benign	159

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1032	NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	Pathogenic
1033	NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala)	Pathogenic
1034	NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp)	Pathogenic
1035	NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	Pathogenic
1164030	NM_015559.3(SETBP1):c.1777C>T (p.Gln593Ter)	Pathogenic
1184943	NM_015559.3(SETBP1):c.2372_2387del (p.Ser791fs)	Pathogenic
1216789	NM_015559.3(SETBP1):c.1329del (p.Met443fs)	Pathogenic
1302004	NM_015559.3(SETBP1):c.632del (p.Gln211fs)	Pathogenic
1320239	NM_015559.3(SETBP1):c.3731dup (p.Ala1245fs)	Pathogenic
1338934	NM_015559.3(SETBP1):c.2681_2682del (p.Ser893_Phe894insTer)	Pathogenic
1434259	NM_015559.3(SETBP1):c.2480G>A (p.Trp827Ter)	Pathogenic
157555	NM_015559.3(SETBP1):c.2464del (p.Ile822fs)	Pathogenic
157556	NM_015559.3(SETBP1):c.1596G>A (p.Trp532Ter)	Pathogenic
157557	NM_015559.3(SETBP1):c.3032C>G (p.Ser1011Ter)	Pathogenic
157558	NM_015559.3(SETBP1):c.427del (p.Arg143fs)	Pathogenic
157559	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	Pathogenic
157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	Pathogenic
1805460	NM_015559.3(SETBP1):c.623del (p.Pro208fs)	Pathogenic
1805990	NM_015559.3(SETBP1):c.2087dup (p.Glu697fs)	Pathogenic
2010940	NM_015559.3(SETBP1):c.314_315dup (p.Lys106Ter)	Pathogenic
2012855	NM_015559.3(SETBP1):c.1684del (p.Tyr562fs)	Pathogenic
2014025	NM_015559.3(SETBP1):c.514dup (p.Ser172fs)	Pathogenic
2023307	NM_015559.3(SETBP1):c.440dup (p.Asn147fs)	Pathogenic
2029311	NM_015559.3(SETBP1):c.1030_1034del (p.Ser344fs)	Pathogenic
2031944	NM_015559.3(SETBP1):c.242_243del (p.Val81fs)	Pathogenic
2117731	NM_015559.3(SETBP1):c.408_409del (p.Asp138fs)	Pathogenic
212152	NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	Pathogenic
2429955	NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)	Pathogenic
2502526	NM_015559.3(SETBP1):c.176_191dup (p.Gly64_Ser65insGlyGlyTer)	Pathogenic
2578403	NM_015559.3(SETBP1):c.2812del (p.His938fs)	Pathogenic

SpliceAI

3312 predictions. Top by Δscore:

Variant	Effect	Δscore
18:44869226:GCA:G	acceptor_loss	1.0000
18:44869228:A:AG	acceptor_gain	1.0000
18:44869229:G:GT	acceptor_gain	1.0000
18:44869229:GC:G	acceptor_gain	1.0000
18:44869229:GCT:G	acceptor_gain	1.0000
18:44869229:GCTC:G	acceptor_gain	1.0000
18:44869229:GCTCC:G	acceptor_gain	1.0000
18:44869282:AGG:A	donor_loss	1.0000
18:44869284:G:GG	donor_gain	1.0000
18:44869284:GTAA:G	donor_loss	1.0000
18:44869285:T:A	donor_loss	1.0000
18:45063077:A:AG	acceptor_gain	1.0000
18:45063077:AGTC:A	acceptor_gain	1.0000
18:45063078:G:GT	acceptor_gain	1.0000
18:45063078:GTC:G	acceptor_gain	1.0000
18:45063078:GTCG:G	acceptor_gain	1.0000
18:44701829:GAAG:G	donor_gain	0.9900
18:44701830:AAGGT:A	donor_loss	0.9900
18:44701831:AGGT:A	donor_loss	0.9900
18:44701832:GGTAG:G	donor_loss	0.9900
18:44701833:GTA:G	donor_loss	0.9900
18:44701834:T:G	donor_loss	0.9900
18:44869225:T:TA	acceptor_gain	0.9900
18:44869225:TGCAG:T	acceptor_gain	0.9900
18:44869280:ACAG:A	donor_gain	0.9900
18:44869281:CAG:C	donor_gain	0.9900
18:44869282:AG:A	donor_gain	0.9900
18:44869283:GG:G	donor_gain	0.9900
18:44870580:C:G	acceptor_gain	0.9900
18:44876647:A:T	donor_gain	0.9900

AlphaMissense

10556 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:44701617:T:C	F91L	1.000
18:44701618:T:C	F91S	1.000
18:44701618:T:G	F91C	1.000
18:44701619:T:A	F91L	1.000
18:44701619:T:G	F91L	1.000
18:44701624:T:A	I93N	1.000
18:44701654:T:C	L103P	1.000
18:44701660:T:C	L105P	1.000
18:44701719:T:C	C125R	1.000
18:44701721:T:G	C125W	1.000
18:44951103:G:A	G588E	1.000
18:44951337:T:A	I666N	1.000
18:44951373:T:C	L678S	1.000
18:44951478:T:C	I713T	1.000
18:44951478:T:G	I713S	1.000
18:44951484:T:A	V715D	1.000
18:44951486:A:C	S716R	1.000
18:44951487:G:T	S716I	1.000
18:44951488:C:A	S716R	1.000
18:44951488:C:G	S716R	1.000
18:44951491:G:C	K717N	1.000
18:44951491:G:T	K717N	1.000
18:44951495:G:A	G719R	1.000
18:44951495:G:C	G719R	1.000
18:44951496:G:A	G719E	1.000
18:44951496:G:T	G719V	1.000
18:44951502:T:A	I721N	1.000
18:44951502:T:C	I721T	1.000
18:44951502:T:G	I721S	1.000
18:44951504:T:C	Y722H	1.000

dbSNP variants (sampled 300 via entrez): RS1000002583 (18:44718124 T>A), RS1000008773 (18:44801741 G>A), RS1000008871 (18:44845503 T>C), RS1000015717 (18:45021957 G>A), RS1000021214 (18:44980561 C>T), RS1000029175 (18:44791407 A>G), RS1000037114 (18:45004393 G>T), RS1000042972 (18:44937676 A>C,T), RS1000054433 (18:44754897 CAA>C), RS1000055196 (18:44951087 G>A), RS1000068750 (18:44844876 A>G), RS1000071318 (18:44885446 A>G), RS1000071935 (18:44691601 A>G), RS1000074263 (18:44970883 A>G), RS1000081409 (18:45000037 G>A)

Disease associations

OMIM: gene MIM:611060 | disease phenotypes: MIM:616078, MIM:269150, MIM:617468, MIM:208150, MIM:108800, MIM:603563

GenCC curated gene-disease

Disease	Classification	Inheritance
Schinzel-Giedion syndrome	Definitive	Autosomal dominant
intellectual disability, autosomal dominant 29	Definitive	Autosomal dominant
intellectual disability-expressive aphasia-facial dysmorphism syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD
Schinzel-Giedion syndrome	Definitive	AD

Mondo (13): intellectual disability, autosomal dominant 29 (MONDO:0014482), Schinzel-Giedion syndrome (MONDO:0010010), arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101), neurodevelopmental disorder (MONDO:0700092), intellectual disability (MONDO:0001071), teratoma (MONDO:0002601), hydronephrosis (MONDO:0005510), atrial septal defect (MONDO:0006664), hereditary spastic paraplegia 8 (MONDO:0011339), congenital nervous system disorder (MONDO:0002320), lymphoma (MONDO:0005062), (MONDO:0018574)

Orphanet (8): Intellectual disability-expressive aphasia-facial dysmorphism syndrome (Orphanet:436151), Schinzel-Giedion syndrome (Orphanet:798), Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994), Interatrial communication (Orphanet:1478), Autosomal dominant spastic paraplegia type 8 (Orphanet:100989), Lymphoma (Orphanet:223735), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

178 total (30 of 178 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000046	Small scrotum
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000059	Hypoplastic labia majora
HP:0000064	Hypoplastic labia minora
HP:0000069	Abnormality of the ureter
HP:0000071	Ureteral stenosis
HP:0000072	Hydroureter
HP:0000078	Abnormality of the genital system
HP:0000107	Renal cyst
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000160	Narrow mouth
HP:0000168	Abnormality of the gingiva
HP:0000187	Broad alveolar ridges
HP:0000189	Narrow palate
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000248	Brachycephaly
HP:0000260	Wide anterior fontanel
HP:0000272	Malar flattening
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000280	Coarse facial features
HP:0000307	Pointed chin

GWAS associations

63 associations (top):

Study	Trait	p-value
GCST001501_4	Platelet thrombus formation	3.000000e-06
GCST001548_6	Male-pattern baldness	3.000000e-09
GCST002533_5	QRS duration	2.000000e-08
GCST003479_10	Hair color	6.000000e-06
GCST003560_3	Coronary artery aneurysm in Kawasaki disease	8.000000e-08
GCST003598_6	QRS duration	1.000000e-12
GCST003598_7	QRS duration	6.000000e-10
GCST003844_14	QRS duration	1.000000e-14
GCST004033_13	QRS interval (sulfonylurea treatment interaction)	7.000000e-07
GCST004350_21	Bone ultrasound measurement (velocity of sound)	4.000000e-07
GCST004776_70	Systolic blood pressure	8.000000e-06
GCST004950_40	Breast cancer	3.000000e-08
GCST004988_48	Breast cancer	2.000000e-12
GCST005042_19	Restless legs syndrome	1.000000e-07
GCST005116_52	Male-pattern baldness	8.000000e-25
GCST006258_38	Diastolic blood pressure	6.000000e-10
GCST006259_21	Systolic blood pressure	1.000000e-13
GCST006661_331	Male-pattern baldness	3.000000e-08
GCST006661_332	Male-pattern baldness	4.000000e-08
GCST006979_270	Heel bone mineral density	1.000000e-10
GCST007095_60	Systolic blood pressure	9.000000e-08
GCST007096_177	Pulse pressure	2.000000e-16
GCST007097_42	Pulse pressure	2.000000e-08
GCST007097_43	Pulse pressure	1.000000e-10
GCST007099_42	Systolic blood pressure	3.000000e-12
GCST007103_26	QRS duration	3.000000e-17
GCST007104_26	QRS duration	4.000000e-33
GCST007227_8	QRS duration	2.000000e-11
GCST007236_2	Breast cancer	1.000000e-06
GCST007326_20	Number of sexual partners	3.000000e-08

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0005054	QRS complex
EFO:0007922	response to sulfonylurea
EFO:0004514	bone quantitative ultrasound measurement
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0005763	pulse pressure measurement
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0004327	electrocardiography
EFO:0005674	white matter microstructure measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0007659	APOE carrier status
EFO:0007986	reticulocyte count
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D006344	Heart Septal Defects, Atrial	C14.240.400.560.375; C14.280.400.560.375; C16.131.240.400.560.375
D006869	Hydronephrosis	C12.050.351.968.419.307; C12.200.777.419.307; C12.950.419.307
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008223	Lymphoma	C04.557.386; C15.604.515.569; C20.683.515.761
D065886	Neurodevelopmental Disorders	F03.625
D013724	Teratoma	C04.557.465.910
C536632	Schinzel-Giedion syndrome (supp.)
C580458	Spastic Paraplegia Type 8 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, decreases expression, affects expression, affects cotreatment	3
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases mutagenesis	3
Aflatoxin B1	affects methylation, decreases expression	3
Ethinyl Estradiol	affects expression	2
Formaldehyde	decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases methylation	2
Valproic Acid	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
butyraldehyde	decreases expression	1
16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione	increases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	decreases expression	1
cupric oxide	decreases expression	1
pentanal	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation, decreases methylation	1

Cellosaurus cell lines

6 cell lines: 4 induced pluripotent stem cell, 1 transformed cell line, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A0XY	OSRi009-A	Induced pluripotent stem cell	Male
CVCL_A0XZ	OSRi009-A-1	Induced pluripotent stem cell	Male
CVCL_A0YA	OSRi010-A	Induced pluripotent stem cell	Male
CVCL_A0YB	OSRi010-A-1	Induced pluripotent stem cell	Male
CVCL_YE55	GM27452	Transformed cell line	Female
CVCL_YE56	GM27453	Finite cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT05393375	Not specified	COMPLETED	Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT05673265	Not specified	UNKNOWN	Pediatric and Adult Registry for Patients With ARThrogryposis
NCT06130592	Not specified	UNKNOWN	Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
NCT07360574	Not specified	NOT_YET_RECRUITING	Piezo2-related Arthrogryposis & physiopathOLOgy 3
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game