MYCN

Summary

MYCN (MYCN proto-oncogene, bHLH transcription factor, HGNC:7559) is a protein-coding gene on chromosome 2p24.3, encoding N-myc proto-oncogene protein (P04198). Positively regulates the transcription of MYCNOS in neuroblastoma cells. In precision oncology, MYCN Amplification confers sensitivity to Arsenic Trioxide in Medulloblastoma (CIViC Level D); 6 further curated variant–drug associations are listed below. It is haploinsufficient (ClinGen: sufficient evidence).

This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 4613 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Feingold syndrome type 1 (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 13
• Clinical variants (ClinVar): 371 total — 35 pathogenic, 32 likely-pathogenic
• Phenotypes (HPO): 122
• Druggable target: yes
• Precision-oncology evidence (CIViC): 7 curated variant–drug associations
• Cancer driver (intOGen): activating (oncogene-like) across 7 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 146 downstream targets (CollecTRI)
• MANE Select transcript: NM_005378

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7559
Approved symbol	MYCN
Name	MYCN proto-oncogene, bHLH transcription factor
Location	2p24.3
Locus type	gene with protein product
Status	Approved
Aliases	bHLHe37, N-myc, MYCNOT
Ensembl gene	ENSG00000134323
Ensembl biotype	protein_coding
OMIM	164840
Entrez	4613

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000281043, ENST00000638417, ENST00000703162, ENST00000885101, ENST00000930195, ENST00000930196

RefSeq mRNA: 4 — MANE Select: NM_005378 NM_001293228, NM_001293231, NM_001293233, NM_005378

CCDS: CCDS1687, CCDS86823

Canonical transcript exons

ENST00000281043 — 3 exons

Exon	Start	End
ENSE00000804855	15940550	15940743
ENSE00000999248	15941948	15942854
ENSE00003847489	15945493	15947004

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 96.92.

FANTOM5 (CAGE): breadth broad, TPM avg 14.5149 / max 6455.3862, expressed in 533 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18997	9.7593	462
19000	2.1484	238
19002	1.2343	241
18996	0.8799	218
19004	0.1787	17
19001	0.1255	17
19005	0.1108	17
19003	0.0326	4
19006	0.0161	3
18993	0.0122	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	96.92	gold quality
cortical plate	UBERON:0005343	96.55	gold quality
embryo	UBERON:0000922	95.30	gold quality
ganglionic eminence	UBERON:0004023	94.27	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.29	gold quality
placenta	UBERON:0001987	85.69	gold quality
nephron tubule	UBERON:0001231	81.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.66	gold quality
middle temporal gyrus	UBERON:0002771	80.52	silver quality
decidua	UBERON:0002450	80.44	silver quality
Brodmann (1909) area 23	UBERON:0013554	79.04	gold quality
kidney epithelium	UBERON:0004819	78.23	gold quality
amniotic fluid	UBERON:0000173	77.51	gold quality
esophagus squamous epithelium	UBERON:0006920	76.67	gold quality
renal glomerulus	UBERON:0000074	76.51	gold quality
endothelial cell	CL:0000115	76.47	silver quality
metanephric glomerulus	UBERON:0004736	76.05	gold quality
buccal mucosa cell	CL:0002336	75.85	gold quality
entorhinal cortex	UBERON:0002728	75.67	gold quality
primary visual cortex	UBERON:0002436	75.29	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.74	gold quality
postcentral gyrus	UBERON:0002581	74.37	gold quality
metanephros	UBERON:0000081	74.23	gold quality
hair follicle	UBERON:0002073	73.77	silver quality
oral cavity	UBERON:0000167	73.71	gold quality
germinal epithelium of ovary	UBERON:0001304	73.62	silver quality
spinal cord	UBERON:0002240	73.43	gold quality
Ammon’s horn	UBERON:0001954	72.78	gold quality
superior frontal gyrus	UBERON:0002661	72.76	gold quality
epithelium of esophagus	UBERON:0001976	72.55	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.77

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

146 targets.

Target	Regulation
ABCB1	Repression
ABCC1	Activation
AC013461.1
ACOT4
AKAP10
ANO2
APBB3
APEX1
ASCL1	Unknown
ATP11C
BAX	Activation
BIRC5	Activation
BIRC7	Unknown
BMI1	Activation
BTC
CALN1
CASP9	Unknown
CAT
CAV1	Repression
CCL2
CCND2	Repression
CCNE1	Repression
CD44	Activation
CDH5
CDK3
CDKL5
CDKN1A	Activation
CDKN1B	Unknown
CHN1
CIITA	Repression

JASPAR motifs

Motif	Name	Family
MA0104.4	MYCN	bHLH-ZIP
MA0104.5	MYCN	bHLH-ZIP

JASPAR matrix evidence (PMIDs): PMID:18555785

Upstream regulators (CollecTRI, top): CTNNB1, E2F1, E2F2, E2F3, ENO1, ETS1, ETS2, ETV4, FOXC1, GATA3, GLI1, GLI3, HDAC2, HOXA10, HOXA9, KLF10, MXI1, MYC, MYCN, NCOR2, NR1D2, PAX5, PIAS2, RORA, SMAD4, SOX2, SP1, SP3, TAL1, TBX2, TCF7L1, TP53, WT1, YBX1

miRNA regulators (miRDB)

174 targeting MYCN, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-8068	99.98	73.85	2376
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
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• N-myc promotes survival and induces S-phase entry of postmitotic sympathetic neurons (PMID:11826111)
• MYCN gene copy number is determined with a real-time quantitative PCR (Q-PCR) assay and fluorescence in situ hybridization (FISH) analysis. (PMID:11850545)
• Minichromosome maintenance protein MCM7 is a direct target of the MYCN transcription factor in neuroblastoma. (PMID:11861392)
• nmyc gene amplification heavily influences survival in neuroblastoma in children. (PMID:11881792)
• experimental N-Myc overexpression results in down-regulation of leukemia inhibitory factor (LIF), a modulator of endothelial cell proliferation (PMID:12153570)
• N-myc gene modulates expression of p73, allowing neuroblastoma cells to escape the growth suppressing properties of p73 (PMID:12192602)
• Importance of Sp1 consensus motifs in the MYCN promoter. (PMID:12219017)
• High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours. (PMID:12232763)
• data suggest that E2F transcription factors are critical for both the full activation and the repression of MYCN in neuroblastomas (PMID:12438307)
• We found no correlation between MYCN and ID2 expression in neuroblastoma cell lines or tumor specimens. However, we did find a significant positive correlation between MYC and ID2 expressions in both MYCN-amplified and single-copy tumor specimens (PMID:12545167)
• Amplification of MYCN and deletion of TP53 with complex cytogenetic abnormalities in a case of pleuropulmonary blastoma (PMID:12660036)
• Transcriptional regulation of ID2 by the MycN oncoprotein is unlikely to be a seminal molecular event resulting in a highly malignant neuroblastoma phenotype. (PMID:12670915)
• expressed in human neuroblastoma cells in response to retinoic acid (PMID:12808116)
• Data show that the MycN protein activates MDR1 transcription both in exogenous transient MYCN-transfected cells and in endogenous metastatic neuroblasts. (PMID:12819037)
• The identification of coexpressed and coamplified genes associated with MYCN overexpression in neuroblastoma suggests biochemical pathways that contribute to the malignant behavior of these tumors and forms a basis for molecular classification. (PMID:12907629)
• MYCN is not activated in neuroblastoma by E2F and Sp1/Sp3 (PMID:14645238)
• overexpression of MYCN abrogates the regulation of the centrosome cycle after DNA damage (PMID:14647433)
• NMYC is inhibited by peptide nucleic acid in N-myc amplified human neuroblastoma cells (PMID:14719101)
• MYCN induction in human NB cells results in increased MRP1 mRNA and protein levels (PMID:14737110)
• N-myc-associated tumor aggressiveness is mediated by nestin (PMID:15117961)
• While survival rates were higher for patients with low N-myc expression, these differences were not statistically significant. (PMID:15198123)
• Low level gain for a segment of 2p was detected in five of the 15 neuroblastomas that had high level MYCN amplification. The possibility that low level gain of distal 2p is a risk factor for high level MYCN amplification is discussed. (PMID:15218241)
• decreased MYCN expression and MYCN DNA-binding is correlated with retarded cell cycle progression (PMID:15258910)
• These data suggest that inappropriate perinatal MycN expression in paravertebral ganglia cells from transgenic MYCN mice initiated tumorigenesis by altering the physiologic process of neural crest cell deletion. (PMID:15314226)
• Clustering of neuroblastoma cell lines on the basis of hypermethylation distinguished lines with MYCN amplification (a negative prognostic factor) from those without it (P =.012). (PMID:15316056)
• Data show that nitric oxide negatively regulates proliferation and promotes neuronal differentiation through N-Myc downregulation. (PMID:15331636)
• characterized MYCN amplification and chromosome 2 aneusomy in 12 patients with neuroblastoma (PMID:15547663)
• mechanistic link between N-Myc and death receptor machinery, which may serve as a checkpoint to guard the cell from N-Myc-initiated tumorigenesis. (PMID:15632181)
• finding that MYCN directly modulates baseline MDM2 levels suggests a mechanism contributing to the pathogenesis of neuroblastoma and other MYC-driven malignancies through inhibition of MYC-stimulated apoptosis (PMID:15644444)
• N-myc is recruited to the EAAT2 promoter with TNFalpha (PMID:15660126)
• N-myc down-regulates the mRNA expression of many genes with a role in cell architecture. (PMID:15833843)
• HMGA1 repression by RNA interference reduced neuroblastoma cell proliferation, indicating that HMGA1 is a novel MYCN target gene relevant for neuroblastoma tumorigenesis. (PMID:16166307)
• propose that haploinsufficiency of HuD due to chromosome #1p deletion in neuroblastoma selects for cells that amplify N-myc genes (PMID:16278682)
• combination of gene dosages of MYCN and Survivin and the expression level of BIN1 using the quantitative polymerase chain reaction method was significantly correlated with the clinical stage and the patients’ outcome in neuroblastoma (PMID:16516635)
• Recurrent NMYC copy number gain and high protein expression is associated with basal cell carcinoma (PMID:16596176)
• MycN binds to the promoter of CRABP-II and induces CRABP-II transcription directly in neuroblastoma. (PMID:16912187)
• Rationale to test PI3K inhibitors in MYCN-amplified neuroblastoma represent a therapeutic approach applicable to a broad range of cancers in which transcription factors are stabilize. (PMID:16912192)
• MYCN amplification in any form (HSRs or dmins) is associated with a poor outcome. (PMID:17020972)
• The expression of MYCN in tumor cells, and the sensitivity of detection of MYCN by RT-PCR noted in this and other studies, supports further evaluation of MYCN as a NB marker for molecular detection of minimal residual disease. (PMID:17023822)
• These data show that small interfering RNA directed to MYCN, which plays a crucial role in neuroblastoma cell survival, may provide a potential novel therapeutic option for aggressive neuroblastomas. (PMID:17055458)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mycn	ENSDARG00000006837
mus_musculus	Mycn	ENSMUSG00000037169
mus_musculus	Mycs	ENSMUSG00000044597
rattus_norvegicus	Mycs	ENSRNOG00000003085
rattus_norvegicus	Mycn	ENSRNOG00000051372

Paralogs (2): MYCL (ENSG00000116990), MYC (ENSG00000136997)

Protein

Protein identifiers

N-myc proto-oncogene protein — P04198 (reviewed: P04198)

Alternative names: Class E basic helix-loop-helix protein 37

All UniProt accessions (2): A0A1W2PPD9, P04198

UniProt curated annotations — full annotation on UniProt →

Function. Positively regulates the transcription of MYCNOS in neuroblastoma cells.

Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with KDM5A, KDM5B and HUWE1. Interacts with MYCNOS. Interacts with AURKA; interaction is phospho-independent and triggers AURKA activation; AURKA competes with FBXW7 for binding to unphosphorylated MYCN but not for binding to unphosphorylated MYCN. Interacts with FBXW7; FBXW7 competes with AURKA for binding to unphosphorylated MYCN but not for binding to phosphorylated MYCN.

Subcellular location. Nucleus.

Tissue specificity. Expressed in the neuronal cells of the cerebrum, neuroblastomas and thyroid tumors (at protein level).

Post-translational modifications. Phosphorylated by GSK3-beta which may promote its degradation. Phosphorylated by AURKA.

Disease relevance. Amplification of the N-MYC gene is associated with a variety of human tumors, most frequently neuroblastoma, where the level of amplification appears to increase as the tumor progresses. Feingold syndrome 1 (FGLDS1) [MIM:164280] A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, intellectual disability, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described. The disease is caused by variants affecting the gene represented in this entry. Megalencephaly-polydactyly syndrome (MPAPA) [MIM:620748] An autosomal dominant syndrome characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and increased risk of neuroblastoma. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

RefSeq proteins (4): NP_001280157, NP_001280160, NP_001280162, NP_005369* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002418	Tscrpt_reg_Myc	Family
IPR011598	bHLH_dom	Domain
IPR012682	Tscrpt_reg_Myc_N	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR050433	Myc_transcription_factors	Family

Pfam: PF00010, PF01056

UniProt features (33 total): mutagenesis site 8, region of interest 6, sequence variant 5, compositionally biased region 4, modified residue 3, sequence conflict 2, helix 2, chain 1, domain 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5G1X	X-RAY DIFFRACTION	1.72
7ZTL	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P04198-F1	61.76	0.21

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 (3): 58, 261, 263

Mutagenesis-validated functional residues (8):

Position	Phenotype
28	reduces interaction with aurka; when associated with a-35.
29	reduces interaction with aurka; when associated with a-36.
35	reduces interaction with aurka; when associated with a-28.
36	reduces interaction with aurka; when associated with a-29.
52–56	does not affect aurka binding.
73	reduces binding to aurka.
77	reduces binding to aurka.
88	abrogates the interaction with aurka.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-201556	Signaling by ALK
R-HSA-9764562	Regulation of CDH1 mRNA translation by microRNAs
R-HSA-9839394	TGFBR3 expression
R-HSA-9909649	Regulation of PD-L1(CD274) transcription
R-HSA-162582	Signal Transduction
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
R-HSA-9006936	Signaling by TGFB family members
R-HSA-9839373	Signaling by TGFBR3

MSigDB gene sets: 673 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_CARTILAGE_DEVELOPMENT, SWEET_KRAS_ONCOGENIC_SIGNATURE, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_EMBRYONIC_DIGIT_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_GLIOGENESIS, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT

GO Biological Process (22): cartilage condensation (GO:0001502), positive regulation of mesenchymal cell proliferation (GO:0002053), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), lung development (GO:0030324), embryonic digit morphogenesis (GO:0042733), positive regulation of programmed cell death (GO:0043068), regulation of inner ear auditory receptor cell differentiation (GO:0045607), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), astrocyte differentiation (GO:0048708), negative regulation of astrocyte differentiation (GO:0048712), branching morphogenesis of an epithelial tube (GO:0048754), epithelial cell proliferation (GO:0050673), positive regulation of epithelial cell proliferation (GO:0050679), autosome genomic imprinting (GO:0141068), positive regulation of miRNA transcription (GO:1902895), negative regulation of reactive oxygen species metabolic process (GO:2000378), regulation of DNA-templated transcription (GO:0006355), cell population proliferation (GO:0008283)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), kinase binding (GO:0019900), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Signal Transduction	2
Signaling by Receptor Tyrosine Kinases	1
Regulation of CDH1 Expression and Function	1
Signaling by TGFBR3	1
Regulation of PD-L1(CD274) expression	1
Signaling by TGFB family members	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
skeletal system morphogenesis	2
positive regulation of cell population proliferation	2
transcription by RNA polymerase II	2
gene expression	2
regulation of gene expression	2
regulation of transcription by RNA polymerase II	2
positive regulation of DNA-templated transcription	2
cellular anatomical structure	2
nuclear lumen	2
cartilage development	1
cell aggregation	1
mesenchymal cell proliferation	1
regulation of mesenchymal cell proliferation	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
respiratory tube development	1
animal organ development	1
respiratory system development	1
embryonic limb morphogenesis	1
embryonic morphogenesis	1
programmed cell death	1
regulation of programmed cell death	1
positive regulation of cellular process	1
inner ear auditory receptor cell differentiation	1
regulation of epidermal cell differentiation	1
regulation of inner ear receptor cell differentiation	1
DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
embryonic organ morphogenesis	1
embryonic skeletal system development	1
central nervous system development	1
glial cell differentiation	1
negative regulation of glial cell differentiation	1
astrocyte differentiation	1
regulation of astrocyte differentiation	1
tube morphogenesis	1
epithelial tube morphogenesis	1
morphogenesis of a branching epithelium	1

Protein interactions and networks

STRING

5808 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYCN	NMI	Q13287	988
MYCN	MAX	P25912	965
MYCN	AURKA	O14965	919
MYCN	NDRG1	Q92597	916
MYCN	E2F1	Q01094	895
MYCN	BRD4	O60885	889
MYCN	ZFX	P17010	876
MYCN	EZH2	Q15910	876
MYCN	NDRG2	Q9UN36	868
MYCN	TP53	P04637	845
MYCN	HDAC1	Q13547	832
MYCN	NDRG3	Q9UGV2	798
MYCN	AKT1	P31749	794
MYCN	SHH	Q15465	758
MYCN	DDX1	Q92499	755

IntAct

75 interactions, top by confidence:

A	B	Type	Score
MYCN	MAX	psi-mi:“MI:0914”(association)	0.840
MYCN	MAX	psi-mi:“MI:2364”(proximity)	0.840
MYCN	MAX	psi-mi:“MI:0915”(physical association)	0.840
MYCN	AURKA	psi-mi:“MI:0914”(association)	0.830
MYCN	AURKA	psi-mi:“MI:2364”(proximity)	0.830
AURKA	MYCN	psi-mi:“MI:0915”(physical association)	0.830
MYCN	AURKA	psi-mi:“MI:0915”(physical association)	0.830
MYC	ACTL6A	psi-mi:“MI:0914”(association)	0.610
MYCN	ZBTB17	psi-mi:“MI:0915”(physical association)	0.600
ZBTB17	MYCN	psi-mi:“MI:0407”(direct interaction)	0.600
MYCN	SP1	psi-mi:“MI:0914”(association)	0.560
MYCN	SP1	psi-mi:“MI:0915”(physical association)	0.560
CDKN2A	MYCN	psi-mi:“MI:0915”(physical association)	0.560
MYCN	CDKN2A	psi-mi:“MI:0403”(colocalization)	0.560
MYCN	AKT1	psi-mi:“MI:0915”(physical association)	0.550
MYCN	AKT1	psi-mi:“MI:2364”(proximity)	0.550
AKT1	MYCN	psi-mi:“MI:0915”(physical association)	0.550
MYCN	Aurka	psi-mi:“MI:2364”(proximity)	0.540
MYCN	FBXW7	psi-mi:“MI:0915”(physical association)	0.540

BioGRID (1462): NEDD4 (Affinity Capture-Western), MYCN (Biochemical Activity), MYCN (Affinity Capture-Western), ZBTB17 (Reconstituted Complex), MYCN (Affinity Capture-MS), MYCN (Affinity Capture-MS), MYCN (Reconstituted Complex), MYCN (Affinity Capture-Western), WDR5 (Affinity Capture-Western), HUWE1 (Affinity Capture-MS), LRPPRC (Affinity Capture-MS), MAX (Affinity Capture-MS), HUWE1 (Affinity Capture-Western), MAX (Affinity Capture-Western), HUWE1 (Reconstituted Complex)

ESM2 similar proteins: A0A287BDC1, A8YXY8, B1AXD8, B3F209, B3KU38, B5DF41, O00287, O14503, O15079, O35185, O54972, P03966, P04198, P12755, P18444, P26014, Q0D2I5, Q25C79, Q2KJ58, Q3MHV6, Q3UR85, Q50H33, Q53H80, Q5BL57, Q5EA15, Q5FWN7, Q5RAI7, Q60591, Q60698, Q61976, Q63379, Q68FF7, Q6GQB5, Q6ZWB6, Q7ZY70, Q8BXL9, Q8CEG5, Q8CI08, Q8N228, Q8ND83

Diamond homologs: A1YG22, A2T7L5, B8XIA5, P01106, P01108, P01109, P01110, P03966, P04198, P06171, P06295, P06646, P09416, P0C0N8, P0C0N9, P10166, P10395, P12523, P12524, P15063, P15171, P18444, P20389, P21438, P22555, P23583, P23999, P24793, P26014, P28574, P49032, P49033, P49709, P52160, P52161, P52162, P52164, P61244, P61245, P68271

SIGNOR signaling

20 interactions.

A	Effect	B	Mechanism
GLI3	“down-regulates quantity by repression”	MYCN	“transcriptional regulation”
GLI1	“up-regulates quantity by expression”	MYCN	“transcriptional regulation”
HOXA9	“up-regulates quantity by expression”	MYCN	“transcriptional regulation”
MYCN	“down-regulates quantity by repression”	MEF2C	“transcriptional regulation”
HOXA10	“up-regulates quantity by expression”	MYCN	“transcriptional regulation”
MYCN	“down-regulates quantity by repression”	ABCB1	“transcriptional regulation”
MYCN	“up-regulates quantity by expression”	ABCC1	“transcriptional regulation”
MYCN	“up-regulates quantity by expression”	CTSD	“transcriptional regulation”
MYCN	“up-regulates quantity by expression”	SIRT2	“transcriptional regulation”
SIRT2	“up-regulates quantity by stabilization”	MYCN
GLI1/GLI2	“up-regulates quantity by expression”	MYCN	“transcriptional regulation”
hsa-miR-326	“down-regulates quantity by repression”	MYCN	“post transcriptional regulation”
HUWE1	“down-regulates quantity by destabilization”	MYCN	ubiquitination
GSK3B	“down-regulates quantity by destabilization”	MYCN	phosphorylation
CSNK2A1	unknown	MYCN	phosphorylation
CSNK2A2	unknown	MYCN	phosphorylation
SOX17/POU5F1	“up-regulates quantity by expression”	MYCN	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Regulation of PTEN gene transcription	5	33.0×	4e-05
Cellular response to chemical stress	5	26.4×	8e-05
KEAP1-NFE2L2 pathway	5	22.3×	1e-04
Negative Regulation of CDH1 Gene Transcription	5	22.3×	1e-04
Signaling by Receptor Tyrosine Kinases	5	9.6×	2e-03
Cell Cycle, Mitotic	5	8.9×	3e-03
Cellular responses to stress	6	8.2×	2e-03
Cellular responses to stimuli	7	8.2×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	6	54.7×	3e-07
positive regulation of miRNA transcription	5	51.9×	5e-06
epidermal growth factor receptor signaling pathway	5	44.2×	8e-06
chromatin remodeling	7	18.2×	8e-06
negative regulation of apoptotic process	11	13.7×	6e-08
positive regulation of gene expression	9	12.4×	3e-06
negative regulation of gene expression	5	12.3×	1e-03
DNA damage response	6	11.5×	4e-04

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 7 cancer types — BCC, GBM, MBL, NBL, PAST, SKIN, UCEC.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	35
Likely pathogenic	32
Uncertain significance	195
Likely benign	71
Benign	5

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071408	NM_005378.6(MYCN):c.835dup (p.Val279fs)	Pathogenic
1209962	NM_005378.6(MYCN):c.204_205del (p.Glu69fs)	Pathogenic
1323303	NM_005378.6(MYCN):c.559del (p.Val187fs)	Pathogenic
13892	NM_005378.6(MYCN):c.1178G>A (p.Arg393His)	Pathogenic
13893	NM_005378.6(MYCN):c.1177C>A (p.Arg393Ser)	Pathogenic
13896	NM_005378.6(MYCN):c.217G>T (p.Glu73Ter)	Pathogenic
13897	NM_005378.6(MYCN):c.626dup (p.Ala210fs)	Pathogenic
1453351	NM_005378.6(MYCN):c.1051A>T (p.Lys351Ter)	Pathogenic
1459141	NC_000002.11:g.(?16082187)(16082996_?)del	Pathogenic
1709269	NM_005378.6(MYCN):c.256G>T (p.Glu86Ter)	Pathogenic
2296052	NM_005378.6(MYCN):c.950_951dup (p.Leu318fs)	Pathogenic
2486664	NM_005378.6(MYCN):c.328del (p.Val110fs)	Pathogenic
265250	NM_005378.6(MYCN):c.511_551del (p.Ala171fs)	Pathogenic
265251	NM_005378.6(MYCN):c.1124_1125del (p.Asn374_Ser375insTer)	Pathogenic
280632	NM_005378.6(MYCN):c.442del (p.Gln148fs)	Pathogenic
281398	NM_005378.6(MYCN):c.817G>T (p.Glu273Ter)	Pathogenic
3376293	NM_005378.6(MYCN):c.833_846del (p.Asp278fs)	Pathogenic
433149	NM_005378.6(MYCN):c.1014C>A (p.Tyr338Ter)	Pathogenic
433150	NM_005378.6(MYCN):c.68_71dup (p.Gln25fs)	Pathogenic
433151	NM_005378.6(MYCN):c.964C>T (p.Arg322Ter)	Pathogenic
433152	NM_005378.6(MYCN):c.1061dup (p.Ser355fs)	Pathogenic
433154	NM_005378.6(MYCN):c.902_903del (p.Val301fs)	Pathogenic
4526864	NM_005378.6(MYCN):c.985C>T (p.Gln329Ter)	Pathogenic
453036	NM_005378.6(MYCN):c.790+1G>T	Pathogenic
4685118	NM_005378.6(MYCN):c.167_203del (p.Leu56fs)	Pathogenic
4686160	NM_005378.6(MYCN):c.558C>A (p.Cys186Ter)	Pathogenic
4712712	NM_005378.6(MYCN):c.867dup (p.Asn290fs)	Pathogenic
4796616	NM_005378.6(MYCN):c.411_417delinsTTCCA (p.Arg138fs)	Pathogenic
545970	NM_005378.6(MYCN):c.1117C>T (p.Arg373Ter)	Pathogenic
620521	NM_005378.6(MYCN):c.788C>G (p.Ser263Ter)	Pathogenic

SpliceAI

344 predictions. Top by Δscore:

Variant	Effect	Δscore
2:15945488:CTCA:C	acceptor_loss	1.0000
2:15945489:TCAG:T	acceptor_loss	1.0000
2:15945490:CAG:C	acceptor_loss	1.0000
2:15945491:A:AG	acceptor_gain	1.0000
2:15945492:G:GC	acceptor_loss	1.0000
2:15945492:G:GG	acceptor_gain	1.0000
2:15945492:GAT:G	acceptor_gain	1.0000
2:15942852:CAGGT:C	donor_loss	0.9900
2:15942853:AGG:A	donor_loss	0.9900
2:15942854:GGT:G	donor_loss	0.9900
2:15942855:G:GC	donor_loss	0.9900
2:15942856:T:G	donor_loss	0.9900
2:15945491:AGAT:A	acceptor_gain	0.9900
2:15945492:GA:G	acceptor_gain	0.9900
2:15945492:GATG:G	acceptor_gain	0.9900
2:15940741:GAGGT:G	donor_loss	0.9800
2:15940744:GT:G	donor_loss	0.9800
2:15940745:T:A	donor_loss	0.9800
2:15945492:GATGA:G	acceptor_gain	0.9800
2:15945494:T:TA	acceptor_gain	0.9800
2:15944250:A:G	donor_gain	0.9700
2:15940805:C:T	donor_gain	0.9600
2:15940740:GGAG:G	donor_gain	0.9500
2:15940741:G:GT	donor_gain	0.9500
2:15941946:A:AG	acceptor_gain	0.9500
2:15941947:G:GG	acceptor_gain	0.9500
2:15941947:GT:G	acceptor_gain	0.9500
2:15941939:C:A	acceptor_gain	0.9400
2:15942855:G:GG	donor_gain	0.9300
2:15941266:G:GT	donor_gain	0.9100

AlphaMissense

3025 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:15942206:G:C	D48H	1.000
2:15942207:A:C	D48A	1.000
2:15942207:A:T	D48V	1.000
2:15942210:T:A	I49N	1.000
2:15942212:T:A	W50R	1.000
2:15942212:T:C	W50R	1.000
2:15942213:G:C	W50S	1.000
2:15942214:G:C	W50C	1.000
2:15942214:G:T	W50C	1.000
2:15942218:A:G	K52E	1.000
2:15942220:G:C	K52N	1.000
2:15942220:G:T	K52N	1.000
2:15942221:T:A	F53I	1.000
2:15942221:T:C	F53L	1.000
2:15942221:T:G	F53V	1.000
2:15942222:T:C	F53S	1.000
2:15942222:T:G	F53C	1.000
2:15942223:T:A	F53L	1.000
2:15942223:T:G	F53L	1.000
2:15942228:T:C	L55P	1.000
2:15942405:A:C	D114A	1.000
2:15942405:A:T	D114V	1.000
2:15942407:T:C	C115R	1.000
2:15942408:G:A	C115Y	1.000
2:15942409:C:G	C115W	1.000
2:15942411:T:C	M116T	1.000
2:15942413:T:A	W117R	1.000
2:15942413:T:C	W117R	1.000
2:15942415:G:C	W117C	1.000
2:15942415:G:T	W117C	1.000

dbSNP variants (sampled 300 via entrez): RS1000326722 (2:15939845 A>G), RS1000375493 (2:15940007 C>G), RS1000677154 (2:15940092 C>T), RS1000745518 (2:15939703 T>C), RS1001054058 (2:15944517 T>C), RS1001105005 (2:15944253 T>C,G), RS1001400480 (2:15946986 T>C), RS1001738926 (2:15939346 T>C,G), RS1002376834 (2:15942489 C>A,G,T), RS1002610669 (2:15944096 G>A), RS1003356277 (2:15943253 A>G), RS1003795309 (2:15943549 G>A), RS1003867645 (2:15942470 C>T), RS1004860367 (2:15943458 T>C,G), RS1005175657 (2:15941798 G>A)

Disease associations

OMIM: gene MIM:164840 | disease phenotypes: MIM:164280, MIM:620748, MIM:614429, MIM:137040

GenCC curated gene-disease

Disease	Classification	Inheritance
Feingold syndrome type 1	Definitive	Autosomal dominant
neurodevelopmental disorder	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
megalencephaly-polydactyly syndrome	Moderate	AD
Feingold syndrome type 1	Definitive	AD

Mondo (9): Feingold syndrome type 1 (MONDO:0008115), Feingold syndrome (MONDO:0015267), megalencephaly-polydactyly syndrome (MONDO:0958279), neuroblastoma (MONDO:0005072), intellectual disability (MONDO:0001071), ventricular septal defect (MONDO:0002070), isolated agenesis of gallbladder (MONDO:0007642), double outlet right ventricle (MONDO:0018089), neurodevelopmental disorder (MONDO:0700092)

Orphanet (7): Feingold syndrome (Orphanet:1305), Feingold syndrome type 1 (Orphanet:391641), Neuroblastoma (Orphanet:635), Double outlet right ventricle (Orphanet:3426), Isolated agenesis of gallbladder (Orphanet:440987), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Ventricular septal defect (Orphanet:1480)

HPO phenotypes

122 total (30 of 122 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000076	Vesicoureteral reflux
HP:0000077	Abnormality of the kidney
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000110	Renal dysplasia
HP:0000123	Nephritis
HP:0000126	Hydronephrosis
HP:0000218	High palate
HP:0000232	Everted lower lip vermilion
HP:0000237	Small anterior fontanelle
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000269	Prominent occiput
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000321	Square face
HP:0000324	Facial asymmetry
HP:0000325	Triangular face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000437	Depressed nasal tip
HP:0000463	Anteverted nares

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001500_1	Wilms tumor	1.000000e-14
GCST001500_2	Wilms tumor	1.000000e-14
GCST001784_14	Pulmonary function (smoking interaction)	2.000000e-07
GCST002519_1	Asthma or chronic obstructive pulmonary disease	1.000000e-06
GCST002842_10	Basal cell carcinoma	5.000000e-12
GCST006291_21	Spherical equivalent or myopia (age of diagnosis)	4.000000e-08
GCST008839_451	Height	2.000000e-07
GCST009356_9	Nonsyndromic cleft palate	3.000000e-06
GCST009357_2	Nonsyndromic cleft lip	6.000000e-17
GCST009391_1679	Metabolite levels	9.000000e-06
GCST010002_384	Refractive error	2.000000e-09
GCST010396_10	Gut microbiota (bacterial taxa, hurdle binary method)	9.000000e-06
GCST90002388_63	Lymphocyte count	8.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0004847	age at onset
EFO:0003959	cleft lip
EFO:0010342	cholesteryl ester 16:1 measurement
EFO:0007874	gut microbiome measurement
EFO:0004587	lymphocyte count

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D004310	Double Outlet Right Ventricle	C14.240.400.560.540.500; C14.240.400.915.300; C14.280.400.560.540.500; C14.280.400.915.300; C16.131.240.400.560.540.500; C16.131.240.400.915.300
D006345	Heart Septal Defects, Ventricular	C14.240.400.560.540; C14.280.400.560.540; C16.131.240.400.560.540
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009447	Neuroblastoma	C04.557.465.625.600.590.650.550; C04.557.470.670.590.650.550; C04.557.580.625.600.590.650.550
D065886	Neurodevelopmental Disorders	F03.625
C562564	Gallbladder, Agenesis Of (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523165 (SINGLE PROTEIN)

Clinical evidence (CIViC)

Drug × variant × indication: 7 predictive associations from 7 curated evidence items; also 1 prognostic.

Variant	Therapy	Indication	Effect	Level	CIViC
MYCN Amplification	Arsenic Trioxide	Medulloblastoma	Sensitivity/Response	CIViC D	EID5327
MYCN Amplification	JQ1	Neuroblastoma	Sensitivity/Response	CIViC D	EID6017
MYCN Amplification	Birabresib	Neuroblastoma	Sensitivity/Response	CIViC D	EID6018
MYCN Amplification	JQ1 + Panobinostat	Neuroblastoma	Sensitivity/Response	CIViC D	EID6019
MYCN Amplification	GSK126 + JQEZ5	Neuroblastoma	Sensitivity/Response	CIViC D	EID6020
MYCN Amplification	FACT Complex-targeting Curaxin CBL0137	Neuroblastoma	Sensitivity/Response	CIViC D	EID744
MYCN Amplification	Sonidegib	Medulloblastoma	Resistance	CIViC D	EID5325

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	affects response to substance, increases response to substance, affects cotreatment, decreases expression, affects binding (+2 more)	7
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	6
Arsenic Trioxide	decreases expression, increases expression	4
Tretinoin	decreases expression, increases reaction	4
methylmercuric chloride	increases expression, affects cotreatment	3
trichostatin A	affects cotreatment, increases expression, decreases expression	3
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases expression	3
Panobinostat	affects cotreatment, decreases expression, increases reaction, increases expression, decreases reaction	3
Ethinyl Estradiol	affects expression, decreases expression	3
bisphenol A	affects expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Estradiol	decreases expression, affects cotreatment	2
abemaciclib	decreases expression	1
mivebresib	decreases expression	1
CPI-0610	decreases expression	1
INCB057643	decreases expression	1
ARV-771	decreases expression	1
lead acetate	decreases expression, affects cotreatment	1
sodium arsenate	affects expression, affects response to substance, decreases response to substance	1
terbufos	increases methylation	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
chromous chloride	affects cotreatment, decreases expression	1
butyraldehyde	increases expression	1
chromic oxide	decreases expression, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
crocin	increases cleavage, decreases response to substance, decreases expression, decreases stability, decreases reaction	1
aflatoxin B2	decreases methylation	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1

ChEMBL screening assays

11 unique, capped per target: 11 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4422439	Binding	Inhibition of N-Myc (unknown origin) expressed in rat Rat1A cells assessed as inhibition of cell growth incubated for 72 hrs by methylene blue staining based assay	Small molecules inhibiting oncoprotein Myc

Cellosaurus cell lines

10 cell lines: 6 cancer cell line, 3 embryonic stem cell, 1 telomerase immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_9812	Tet21N	Cancer cell line	Female
CVCL_A4H9	SEES3-1V human MYCN, clone1	Embryonic stem cell	Male
CVCL_A4I0	SEES3-1V human MYCN, clone2	Embryonic stem cell	Male
CVCL_A4I1	SEES3-1V human MYCN, clone3	Embryonic stem cell	Male
CVCL_A8SJ	JR1Nmyc6	Cancer cell line	Female
CVCL_A8SK	JR1Nmyc9	Cancer cell line	Female
CVCL_C7HL	Dbt-MYCN/indP3F	Telomerase immortalized cell line	Male
CVCL_LI08	CHLA-255/MYCN	Cancer cell line	Sex unspecified
CVCL_VL18	MYCN-2 Tet-on	Cancer cell line	Female
CVCL_VL19	MYCN-3 Tet-on	Cancer cell line	Female

Clinical trials (associated diseases)

502 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,
NCT00336531	PHASE4	COMPLETED	Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT06047535	PHASE4	NOT_YET_RECRUITING	Naxitamab and Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) Combined With Isotretinoin for Maintenance Treatment of Patients With High-Risk Neuroblastoma in First Complete Response.
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
NCT00002802	PHASE3	COMPLETED	Therapy Based on Stage of Disease and Risk Assessment in Treating Children With Neuroblastoma
NCT00003093	PHASE3	COMPLETED	Combination Chemotherapy in Treating Children With Neuroblastoma
NCT00003119	PHASE3	COMPLETED	Surgery in Treating Children With Neuroblastoma
NCT00004188	PHASE3	COMPLETED	Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma
NCT00025428	PHASE3	COMPLETED	Combination Chemotherapy Before Surgery in Treating Children With Localized Neuroblastoma
NCT00026312	PHASE3	COMPLETED	Isotretinoin With or Without Dinutuximab, Aldesleukin, and Sargramostim Following Stem Cell Transplant in Treating Patients With Neuroblastoma
NCT00030719	PHASE3	UNKNOWN	Combination Chemotherapy With or Without Filgrastim Before Surgery, High-Dose Chemotherapy, and Radiation Therapy Followed by Isotretinoin With or Without Monoclonal Antibody in Treating Patients With Neuroblastoma
NCT00033293	PHASE3	COMPLETED	Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma
NCT00126412	PHASE3	COMPLETED	Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma
NCT00276731	PHASE3	UNKNOWN	Combination Chemotherapy Followed By Surgery With or Without Radiation Therapy in Treating Young Patients With Stage II or Stage III Neuroblastoma
NCT00324324	PHASE3	TERMINATED	Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant
NCT00365755	PHASE3	COMPLETED	Combination Chemotherapy in Treating Young Patients Who Are Undergoing Surgery and an Autologous Bone Marrow Transplant for Disseminated Neuroblastoma
NCT00410631	PHASE3	UNKNOWN	Observation, Combination Chemotherapy, Radiation Therapy, and/or Autologous Stem Cell Transplant in Treating Young Patients With Neuroblastoma
NCT00416676	PHASE3	UNKNOWN	Combination Chemotherapy and Surgery With or Without Radiation Therapy in Treating Patients With Stage 2 or Stage 3 Neuroblastoma
NCT00417053	PHASE3	UNKNOWN	Combination Chemotherapy in Treating Infants With Newly Diagnosed Neuroblastoma Who Are Undergoing Surgery With or Without Autologous Bone Marrow or Peripheral Stem Cell Transplant
NCT00499616	PHASE3	COMPLETED	Combination Chemotherapy and Surgery With or Without Isotretinoin in Treating Young Patients With Neuroblastoma
NCT00567567	PHASE3	COMPLETED	Comparing Two Different Myeloablation Therapies in Treating Young Patients Who Are Undergoing a Stem Cell Transplant for High-Risk Neuroblastoma
NCT00716976	PHASE3	COMPLETED	Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy
NCT00782145	PHASE3	COMPLETED	A Web-Based Stem Cell Transplant Support System or Standard Care in Young Patients Undergoing Stem Cell Transplant and Their Families
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