PAX3

Summary

PAX3 (paired box 3, HGNC:8617) is a protein-coding gene on chromosome 2q36.1, encoding Paired box protein Pax-3 (P23760). Transcription factor that may regulate cell proliferation, migration and apoptosis. It is haploinsufficient (ClinGen: sufficient evidence).

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini.

Source: NCBI Gene 5077 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Waardenburg syndrome (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 26
• Clinical variants (ClinVar): 422 total — 97 pathogenic, 67 likely-pathogenic
• Phenotypes (HPO): 95
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 120 downstream targets (CollecTRI)
• MANE Select transcript: NM_181458

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8617
Approved symbol	PAX3
Name	paired box 3
Location	2q36.1
Locus type	gene with protein product
Status	Approved
Aliases	HUP2, PAX-3
Ensembl gene	ENSG00000135903
Ensembl biotype	protein_coding
OMIM	606597
Entrez	5077

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000258387, ENST00000336840, ENST00000344493, ENST00000350526, ENST00000392069, ENST00000392070, ENST00000409551, ENST00000409828, ENST00000464706, ENST00000555548, ENST00000644490, ENST00000644699, ENST00000644937, ENST00000646154, ENST00000647467

RefSeq mRNA: 8 — MANE Select: NM_181458 NM_000438, NM_001127366, NM_013942, NM_181457, NM_181458, NM_181459, NM_181460, NM_181461

CCDS: CCDS2448, CCDS2449, CCDS2450, CCDS2451, CCDS42825, CCDS42826, CCDS46522, CCDS46523

Canonical transcript exons

ENST00000392070 — 9 exons

Exon	Start	End
ENSE00000786297	222232078	222232283
ENSE00000843665	222294167	222294301
ENSE00000843667	222295528	222295657
ENSE00000843668	222296978	222297213
ENSE00001369639	222201944	222202190
ENSE00001911871	222199887	222201442
ENSE00001956368	222298531	222298998
ENSE00003666492	222220140	222220354
ENSE00003676397	222221222	222221387

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 79.90.

FANTOM5 (CAGE): breadth broad, TPM avg 9.5644 / max 495.9486, expressed in 465 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34129	8.9366	456
34126	0.2461	110
34127	0.1359	42
34122	0.1159	58
34128	0.0942	32
34130	0.0357	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	79.90	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.40	gold quality
nasal cavity mucosa	UBERON:0001826	78.05	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.49	gold quality
minor salivary gland	UBERON:0001830	73.81	gold quality
upper leg skin	UBERON:0004262	72.45	gold quality
calcaneal tendon	UBERON:0003701	71.97	gold quality
muscle of leg	UBERON:0001383	70.41	gold quality
mouth mucosa	UBERON:0003729	70.32	gold quality
tendon	UBERON:0000043	69.90	gold quality
gastrocnemius	UBERON:0001388	69.70	gold quality
muscle organ	UBERON:0001630	68.29	gold quality
deltoid	UBERON:0001476	68.16	silver quality
saliva-secreting gland	UBERON:0001044	67.29	gold quality
skin of abdomen	UBERON:0001416	66.84	gold quality
tendon of biceps brachii	UBERON:0008188	65.52	gold quality
diaphragm	UBERON:0001103	65.51	gold quality
skeletal muscle tissue	UBERON:0001134	65.25	gold quality
right hemisphere of cerebellum	UBERON:0014890	65.03	gold quality
skin of hip	UBERON:0001554	64.48	gold quality
cerebellar cortex	UBERON:0002129	64.16	gold quality
zone of skin	UBERON:0000014	64.13	gold quality
cerebellar hemisphere	UBERON:0002245	64.01	gold quality
cerebellum	UBERON:0002037	63.96	gold quality
tibial artery	UBERON:0007610	63.84	gold quality
popliteal artery	UBERON:0002250	63.81	gold quality
triceps brachii	UBERON:0001509	63.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	63.70	gold quality
gluteal muscle	UBERON:0002000	63.64	gold quality
skin of leg	UBERON:0001511	63.34	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-10018	yes	170.89
E-ENAD-20	no	349.44
E-ANND-3	no	6.47

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

120 targets.

Target	Regulation
ACKR3
ACSS1
ADAM2
AHR
AKT1
ALDH7A1
AXL
BAX	Repression
BCL2
BCL2L1	Activation
BMP4
C4A
CALM1
CCN3
CD3E
CDC42SE2
CDH3
CDK4
CDKN1B	Repression
CDKN1C	Unknown
CDKN2A	Repression
CISH
CNR1
CNTF	Repression
CPT1A
CXCL14	Unknown
CXCR4	Activation
DCK
DCT	Repression
DPYD

JASPAR motifs

Motif	Name	Family
MA0780.1	PAX3	Paired plus homeo domain
MA1546.1	PAX3	Paired plus homeo domain
MA1546.2	PAX3	Paired plus homeo domain

JASPAR matrix evidence (PMIDs): PMID:19458195, PMID:9632796

Upstream regulators (CollecTRI, top): CREB1, EZH2, GLI2, GSC, HES1, HOXA1, MAX, MESP2, MITF, MYC, MYCN, NEUROG2, NKX3-2, PAX3, PAX6, PAX7, PBX1, PKNOX1, POU2F1, POU3F2, SIX4, SKI, SMAD4, SOX9, SP1, SP3, STAT3, TAF1, TCF15, TEAD1, TEAD2

miRNA regulators (miRDB)

20 targeting PAX3, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-145-3P	99.33	67.66	764
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-3663-5P	97.01	64.84	713
HSA-MIR-3616-3P	96.96	65.45	983

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• fuses with FKHR protein, and affects the transcriptional regulation of IGF-I receptor (PMID:11735247)
• PAX3-FKHR gene fusion is prognostic indicator for alveolar rhabdomyosarcoma. (PMID:12039929)
• expression of PAX3 is correlated with metastasis potential–REVIEW (PMID:12647804)
• PAX3 gene is associated with Waardenburg syndrome. (PMID:12666593)
• Maternal diabetes inhibits expression of embryonic genes, most notably, Pax-3, which is required for neural tube closure. oxidative stress inhibits expression of Pax-3 providing a molecular basis for neural tube defects induced by diabetic pregnancy. (PMID:12739027)
• A fusion of PAX3 and FOXO1A proteins was used in the diagnosis of a solid alveolar rhabdomyosarcoma. (PMID:15140004)
• in the RD embryonal rhabdomyosarcoma cell line, PAX3-FKHR upregulates expression of the gene encoding the chemokine receptor CXCR4 (PMID:15184910)
• A novel translocation t(2;2)(q35;p23), which generates a fusion protein composed of PAX3 and the NCOA1was identified in rhabdomyosarcoma. (PMID:15313887)
• DNA methylation near the PAX3 transcription start site is found in embryonal rhabdomyosarcomas but not in most alveolar rhabdomyosarcomas or normal muscle. This methylation is inversely correlated with PAX3 gene expression. (PMID:15602708)
• Pax3/FKHR regulates a distinct but overlapping set of genes relative to Pax3 in tumor cells and the global set of Pax3 and Pax3/FKHR gene targets is cell-type specific. (PMID:15688035)
• PAX3, PAX7 and their fusions with FKHR are each expressed in rhabdomyosarcoma tumors as a consistent mixture of functionally distinct isoforms (PMID:15688409)
• The Re-expression of PAX3, consistently observed in cutaneous malignant melanoma (CMM) as compared to normal melanocytes, appears linked to progression of CMM. (PMID:16316407)
• Results define roles for Rho GTPases and their effectors in mesenchymal-to-epithelial transition and identify proteins and signal transduction cascades regulated by Pax3. (PMID:16442263)
• Pax3 represses transcription through a novel mechanism involving competition between corepressor KAP1 and the heterochromatin-binding protein HP1gamma (PMID:16945326)
• Effects of PAX3 isoforms in melanocytes and their potential contribution in tumorigenesis in melanoma. (PMID:16951170)
• Pax3 directly regulates Myf5 in the hypaxial somite and its derivatives in transgenic mouse embryos. (PMID:16951257)
• PAX3-FKHR fusion protein plays a critical role in the pathogenesis of alveolar rhabdomyosarcomas by influencing the commitment and differentiation of the myogenic cell lineage. (PMID:16952014)
• PAX3-FKHR could induce myogenin expression in undifferentiated myoblasts by a MyoD independent pathway, and that PAX3-FKHR is directly involved in myogenin expression in aRMS cells (PMID:16964289)
• Mutation screening in PAX3 identified a 701T > C mutation which converted a highly conserved Leu to Pro. (PMID:16971891)
• PAX3 SNPs were not strong risk factors for human spina bifida (PMID:17149730)
• PAX3 isoforms regulate distinct but overlapping sets of genes in melanocytes in vitro. (PMID:17187370)
• PAX3-FKHR fusion transcripts were positive in 3/7 alveolar rhabdomyosarcoma patients, and were negative in embryonal rhabdomyosarcoma and Control tumors. (PMID:17285543)
• In this work we show that PAX3-FKHR, which is a stronger transcriptional activator relative to PAX3, can lead to two apparently irreconcilable outcomes: transformation and terminal myogenic differentiation. (PMID:17490646)
• developed a pathophysiologically relevant transcriptional profile of PAX3/FKHR and identified a critical target gene for aRMS development (PMID:17525748)
• Significant differences in survival and clinical characteristics between PAX3-FKHR and PAX7-FKHR positive tumors were seen indicating their role in carcinogenesis. (PMID:17613043)
• Detection of both partial and whole gene deletions of PAX3 increase mutation detection in Waardenburg syndrome. (PMID:17627390)
• PAX3-FKHR fusion gene of rhabdomyosarcoma cooperates with loss of p16INK4A to promote bypass of cellular senescence (PMID:17638879)
• Yeast two-hybrid screening using libraries prepared from mouse liver and embryo identified Them2 (thioesterase superfamily member 2) and the homeodomain transcription factor Pax3 (paired box gene 3), respectively, as PC-TP-interacting proteins. (PMID:17704541)
• An amplification event is required for the PAX7-FOXO1A chimeric transcript to reach a critical expression level. (PMID:17954266)
• isolated and characterized muscle cells from transgenic mice expressing PAX3-FOXO1 under control of PAX3 promoter. Demonstrate that myoblasts are unable to complete myogenic differentiation because of an inability to up-regulate p57Kip2 transcription (PMID:17986608)
• These results suggest that PAX3-FKHR promotes malignant phenotypes such as proliferation, motility, and to suppress differentiation. (PMID:18022385)
• PAX3 suppresses p53-dependent transcription from promoters of p53-responsive genes, notably BAX and HDM2-P2, and reduces p53 protein abundance by promoting its degradation. (PMID:18053811)
• These results establish that altered localization and dynamics play a key role in PAX3 dysfunction and that loss of the underlying determinants represents the principal defect for a subset of Waardenburg mutations. (PMID:18325909)
• PAX3-expressing melanomas may be less environmentally dependent and more genetically linked. (PMID:18327212)
• The PAX3-FKHR protein acts directly on the MYCN gene at the transcriptional level. PAX3-FKHR contributes to the expression of MYCN and in turn MYCN collaborates with PAX3-FKHR in tumorigenesis. (PMID:18335505)
• the transcriptional activity of PAX3/FKHR can be inhibited by the kinase inhibitor PKC412 (PMID:18483260)
• Loss of WT1 permits aberrant PAX3 expression in a subset of Wilms tumors with myogenic phenotype. (PMID:18666806)
• there is ALK overexpression in rhabdomyosarcomas, most likely independent of PAX3/PAX7-FKHR fusion status (PMID:18788887)
• Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients. (PMID:18988640)
• Inhibition of PAX3 by TGF-beta modulates melanocyte viability. (PMID:19026785)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pax3a	ENSDARG00000010192
danio_rerio	pax3b	ENSDARG00000028348
mus_musculus	Pax3	ENSMUSG00000004872
rattus_norvegicus	Pax3	ENSRNOG00000013670

Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155), SHOX (ENSG00000185960)

Protein

Protein identifiers

Paired box protein Pax-3 — P23760 (reviewed: P23760)

Alternative names: HuP2

All UniProt accessions (1): P23760

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10.

Subunit / interactions. Can bind to DNA as a homodimer or a heterodimer with PAX7. Interacts with PAXBP1; the interaction links PAX3 to a WDR5-containing histone methyltransferase complex. Interacts with DAXX. Interacts with TBX18. Interacts with SOX10.

Subcellular location. Nucleus.

Disease relevance. Waardenburg syndrome 1 (WS1) [MIM:193500] WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients. The disease is caused by variants affecting the gene represented in this entry. Waardenburg syndrome 3 (WS3) [MIM:148820] WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies. The disease is caused by variants affecting the gene represented in this entry. Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880] Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness. The disease is caused by variants affecting the gene represented in this entry. Rhabdomyosarcoma 2 (RMS2) [MIM:268220] A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator. A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.

Similarity. Belongs to the paired homeobox family.

Isoforms (8)

UniProt ID	Names	Canonical?
P23760-1	Pax3, Pax3C	yes
P23760-2	Pax3A
P23760-3	Pax3B
P23760-4	Pax3G
P23760-5	Pax3H
P23760-6	6
P23760-7	7
P23760-8	Pax3E

RefSeq proteins (8): NP_000429, NP_001120838, NP_039230, NP_852122, NP_852123, NP_852124, NP_852125, NP_852126 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR001523	Paired_dom	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR022106	Pax7_C	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR043182	PAIRED_DNA-bd_site	Conserved_site
IPR043565	PAX_fam	Family

Pfam: PF00046, PF00292, PF12360

UniProt features (59 total): sequence variant 31, splice variant 9, region of interest 5, compositionally biased region 3, modified residue 3, helix 3, DNA-binding region 2, chain 1, site 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3CMY	X-RAY DIFFRACTION	1.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P23760-F1	64.95	0.31

Functional residue map

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

Catalytic / active sites (1): 319–320 (breakpoint for translocation to form pax3-ncoa1 oncogene)

Post-translational modifications (3): 201, 205, 209

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-9834899	Specification of the neural plate border
R-HSA-9856649	Transcriptional and post-translational regulation of MITF-M expression and activity

MSigDB gene sets: 0 (showing top):

GO Biological Process (10): regulation of transcription by RNA polymerase II (GO:0006357), apoptotic process (GO:0006915), nervous system development (GO:0007399), muscle organ development (GO:0007517), sensory perception of sound (GO:0007605), animal organ morphogenesis (GO:0009887), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355), anatomical structure morphogenesis (GO:0009653)

GO Molecular Function (7): 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 factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleoplasm (GO:0005654), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Gastrulation	1
MITF-M-regulated melanocyte development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
transcription by RNA polymerase II	2
animal organ development	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
system development	1
muscle structure development	1
sensory perception of mechanical stimulus	1
anatomical structure morphogenesis	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
developmental process	1
anatomical structure development	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
chromosome	1
nuclear lumen	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2878 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAX3	SOX10	P56693	993
PAX3	MYF5	P13349	957
PAX3	MYOD1	P15172	947
PAX3	MYOG	P15173	943
PAX3	FOXO1	Q12778	921
PAX3	SIX1	Q15475	920
PAX3	MYF6	P23409	891
PAX3	EYA2	O00167	873
PAX3	MITF	O75030	873
PAX3	EYA1	Q99502	851
PAX3	TYR	P14679	819
PAX3	DACH1	Q9UI36	782
PAX3	SNAI2	O43623	781
PAX3	ZIC1	Q15915	777
PAX3	ALPP	P05187	774

IntAct

23 interactions, top by confidence:

A	B	Type	Score
SOX10	PAX3	psi-mi:“MI:0915”(physical association)	0.530
PAX3	POU3F2	psi-mi:“MI:0915”(physical association)	0.530
SOX10	PAX3	psi-mi:“MI:0407”(direct interaction)	0.530
PAX3	POU3F2	psi-mi:“MI:0407”(direct interaction)	0.530
SPIN1	PAX3	psi-mi:“MI:0914”(association)	0.530
PAX3	MEOX2	psi-mi:“MI:0407”(direct interaction)	0.530
PAX3	MEOX2	psi-mi:“MI:0915”(physical association)	0.530
PAX3	ABL1	psi-mi:“MI:0915”(physical association)	0.400
PAX3	SRC	psi-mi:“MI:0915”(physical association)	0.400
FYN	PAX3	psi-mi:“MI:0915”(physical association)	0.400
GRB2	PAX3	psi-mi:“MI:0915”(physical association)	0.400
NCK1	PAX3	psi-mi:“MI:0915”(physical association)	0.400
FOXE1	DDX39A	psi-mi:“MI:0914”(association)	0.350
SKAP1	MYO9A	psi-mi:“MI:0914”(association)	0.350
NELL2	MATN2	psi-mi:“MI:0914”(association)	0.350
PAX3	COL1A1	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
MPL	FAM171A2	psi-mi:“MI:0914”(association)	0.350

BioGRID (59): PAX3 (Biochemical Activity), PAX3 (Affinity Capture-MS), PAX3 (Affinity Capture-MS), PAX3 (Affinity Capture-MS), FZR1 (Affinity Capture-Western), PAX3 (Affinity Capture-Western), PAX3 (Reconstituted Complex), PAX3 (Biochemical Activity), PAX3 (Affinity Capture-MS), PAX3 (Affinity Capture-MS), PAX3 (Affinity Capture-MS), PAX3 (Affinity Capture-MS), IPO13 (Reconstituted Complex), SOX10 (Reconstituted Complex), PAX3 (Reconstituted Complex)

ESM2 similar proteins: A0A1U8QIH0, A0A1U8QVN4, A0A2R6S148, A0A4D6QCQ2, A0A6S6AAU0, B0D0T8, E0CJS3, G4N7X0, G5EDS1, L7R9Z0, O13493, O73917, P09082, P23760, P24610, P26367, P26630, P47238, P63015, P63016, P80073, P81391, P9WEF9, Q01371, Q1LZF1, Q22812, Q24JK1, Q2QZJ8, Q2VL61, Q4JL76, Q4JL84, Q65ZG6, Q6K1S6, Q7K0S9, Q7XBH4, Q96276, Q9FDW1, Q9FJP2, Q9LDE1, Q9LSI7

Diamond homologs: A0JMA6, G5ED14, G5ED66, G5EDS1, O18381, O43316, O57682, O57685, O73917, O88436, P06601, P09082, P09083, P09084, P15863, P23757, P23758, P23759, P23760, P24610, P26367, P26630, P32114, P32115, P47236, P47238, P47239, P47240, P47242, P51974, P55166, P55771, P55864, P63015, P63016, Q00288, Q02548, Q02650, Q02962, Q06710

SIGNOR signaling

16 interactions.

A	Effect	B	Mechanism
PAX3	“up-regulates activity”	LEF1	binding
PAX3	“up-regulates quantity by expression”	PITX2	“transcriptional regulation”
CREB1	“up-regulates quantity by expression”	PAX3	“transcriptional regulation”
PAX3	“up-regulates quantity by expression”	MYOD1	“transcriptional regulation”
PAX3	“up-regulates quantity by expression”	MYF5	“transcriptional regulation”
PAX3	“up-regulates quantity by expression”	TBX2	“transcriptional regulation”
PAX3	“up-regulates quantity by expression”	FGFR4	“transcriptional regulation”
BRAF	“up-regulates activity”	PAX3	phosphorylation
GSK3B	“up-regulates quantity”	PAX3	phosphorylation
CDK4	“up-regulates activity”	PAX3	phosphorylation
WWTR1	up-regulates	PAX3	binding
PAX3	“up-regulates activity”	MEOX1	binding
PAX3	“up-regulates activity”	MEOX2	binding
RAD23B	“down-regulates activity”	PAX3	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 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
FCGR3A-mediated phagocytosis	5	62.4×	3e-06
Nervous system development	5	14.3×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	97
Likely pathogenic	67
Uncertain significance	123
Likely benign	70
Benign	26

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1048552	NM_181458.4(PAX3):c.*175C>T	Pathogenic
1048553	NM_181458.4(PAX3):c.123del (p.Gly42fs)	Pathogenic
1064867	NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)	Pathogenic
1064868	NM_181458.4(PAX3):c.366_367del (p.Asn125fs)	Pathogenic
1175990	NM_181458.4(PAX3):c.955C>T (p.Gln319Ter)	Pathogenic
1185059	NM_181458.4(PAX3):c.372_373del (p.Asn125fs)	Pathogenic
1202632	NM_181458.4(PAX3):c.586+2T>A	Pathogenic
1381147	NM_181458.4(PAX3):c.503dup (p.Glu169fs)	Pathogenic
1416701	NM_181458.4(PAX3):c.118C>T (p.Gln40Ter)	Pathogenic
1451791	NM_181458.4(PAX3):c.498del (p.Glu167fs)	Pathogenic
1454650	NC_000002.11:g.(?223084839)(223097022_?)del	Pathogenic
1458412	NM_181458.4(PAX3):c.184A>G (p.Met62Val)	Pathogenic
1522632	NM_181458.4(PAX3):c.255G>C (p.Lys85Asn)	Pathogenic
1684545	NM_181458.4(PAX3):c.713T>C (p.Phe238Ser)	Pathogenic
1686005	NM_181458.4(PAX3):c.792+2T>C	Pathogenic
1722963	NM_181458.4(PAX3):c.797G>A (p.Trp266Ter)	Pathogenic
2012268	NM_181458.4(PAX3):c.295_302del (p.Gly99fs)	Pathogenic
2121465	NM_181458.4(PAX3):c.492del (p.Gly165fs)	Pathogenic
2123511	NM_181458.4(PAX3):c.1213C>T (p.Gln405Ter)	Pathogenic
2203269	NM_181458.4(PAX3):c.451+1G>A	Pathogenic
228387	NM_181458.4(PAX3):c.668G>A (p.Arg223Gln)	Pathogenic
235094	NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)	Pathogenic
2701956	NM_181458.4(PAX3):c.262_271dup (p.Gln91fs)	Pathogenic
2712440	NM_181458.4(PAX3):c.490A>T (p.Lys164Ter)	Pathogenic
2756989	NM_181458.4(PAX3):c.804del (p.Ser268fs)	Pathogenic
2762993	NM_181458.4(PAX3):c.266G>C (p.Arg89Thr)	Pathogenic
279964	NM_181458.4(PAX3):c.812G>A (p.Arg271His)	Pathogenic
280007	NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)	Pathogenic
2817192	NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter)	Pathogenic
2850743	NM_181458.4(PAX3):c.614_615del (p.Gly204_Ser205insTer)	Pathogenic

SpliceAI

2311 predictions. Top by Δscore:

Variant	Effect	Δscore
2:222220352:CAG:C	acceptor_gain	1.0000
2:222220355:C:CC	acceptor_gain	1.0000
2:222221212:T:TA	donor_gain	1.0000
2:222232279:TGAGG:T	acceptor_gain	1.0000
2:222232280:GAGG:G	acceptor_gain	1.0000
2:222232280:GAGGC:G	acceptor_gain	1.0000
2:222232281:AGG:A	acceptor_gain	1.0000
2:222232281:AGGC:A	acceptor_loss	1.0000
2:222232281:AGGCT:A	acceptor_gain	1.0000
2:222232282:GG:G	acceptor_gain	1.0000
2:222232283:GCT:G	acceptor_gain	1.0000
2:222232284:C:A	acceptor_gain	1.0000
2:222232284:C:CC	acceptor_gain	1.0000
2:222265065:TAAAC:T	donor_gain	1.0000
2:222265066:AAACA:A	donor_gain	1.0000
2:222294161:GCTTA:G	donor_loss	1.0000
2:222294162:CTTA:C	donor_loss	1.0000
2:222294163:TTAC:T	donor_loss	1.0000
2:222294164:TA:T	donor_loss	1.0000
2:222294165:ACCTC:A	donor_loss	1.0000
2:222294166:C:CA	donor_loss	1.0000
2:222294166:CCTCG:C	donor_gain	1.0000
2:222294298:CTCA:C	acceptor_gain	1.0000
2:222294299:TCA:T	acceptor_gain	1.0000
2:222294299:TCAC:T	acceptor_loss	1.0000
2:222294300:CA:C	acceptor_gain	1.0000
2:222294300:CAC:C	acceptor_gain	1.0000
2:222294301:AC:A	acceptor_loss	1.0000
2:222294302:C:CC	acceptor_gain	1.0000
2:222294303:T:C	acceptor_loss	1.0000

AlphaMissense

3171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:222221352:C:A	K276N	1.000
2:222221352:C:G	K276N	1.000
2:222221353:T:A	K276M	1.000
2:222221354:T:C	K276E	1.000
2:222221355:C:A	R275S	1.000
2:222221355:C:G	R275S	1.000
2:222221356:C:A	R275M	1.000
2:222221356:C:G	R275T	1.000
2:222221357:T:A	R275W	1.000
2:222221357:T:C	R275G	1.000
2:222221360:A:G	W274R	1.000
2:222221360:A:T	W274R	1.000
2:222221361:T:A	R273S	1.000
2:222221361:T:G	R273S	1.000
2:222221362:C:A	R273I	1.000
2:222221362:C:G	R273T	1.000
2:222221363:T:C	R273G	1.000
2:222221365:G:A	A272V	1.000
2:222221365:G:T	A272E	1.000
2:222221366:C:G	A272P	1.000
2:222221366:C:T	A272T	1.000
2:222221368:C:G	R271P	1.000
2:222221368:C:T	R271H	1.000
2:222221369:G:A	R271C	1.000
2:222221369:G:C	R271G	1.000
2:222221369:G:T	R271S	1.000
2:222221371:C:A	R270L	1.000
2:222221371:C:G	R270P	1.000
2:222221372:G:A	R270C	1.000
2:222221372:G:C	R270G	1.000

dbSNP variants (sampled 300 via entrez): RS1000031842 (2:222284619 G>A,C), RS1000050293 (2:222203380 C>A,G), RS1000073552 (2:222286586 C>A), RS1000093235 (2:222254267 G>A), RS1000122839 (2:222254451 T>C), RS1000164359 (2:222294007 C>T), RS1000176986 (2:222261040 G>A), RS1000203367 (2:222205696 C>T), RS1000223924 (2:222258270 T>C), RS1000225516 (2:222239861 G>A), RS1000251409 (2:222248874 G>A), RS1000252363 (2:222225601 C>G), RS1000285713 (2:222268222 G>A), RS1000337295 (2:222206001 G>A), RS1000361065 (2:222199716 A>C)

Disease associations

OMIM: gene MIM:606597 | disease phenotypes: MIM:122880, MIM:148820, MIM:193500, MIM:142340, MIM:268220

GenCC curated gene-disease

Disease	Classification	Inheritance
Waardenburg syndrome	Definitive	Autosomal dominant
craniofacial-deafness-hand syndrome	Definitive	Autosomal dominant
Waardenburg syndrome type 1	Definitive	Autosomal dominant
Waardenburg syndrome type 3	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Waardenburg syndrome	Definitive	AD

Mondo (8): craniofacial-deafness-hand syndrome (MONDO:0007395), Waardenburg syndrome type 3 (MONDO:0007862), Waardenburg syndrome type 1 (MONDO:0008670), Waardenburg syndrome (MONDO:0018094), congenital diaphragmatic hernia (MONDO:0005711), alveolar rhabdomyosarcoma (MONDO:0009994), hearing loss disorder (MONDO:0005365), intellectual disability (MONDO:0001071)

Orphanet (9): Craniofacial-deafness-hand syndrome (Orphanet:1529), Waardenburg syndrome (Orphanet:3440), Waardenburg syndrome type 3 (Orphanet:896), Waardenburg syndrome type 1 (Orphanet:894), Congenital diaphragmatic hernia (Orphanet:2140), Rare genetic deafness (Orphanet:96210), Rhabdomyosarcoma (Orphanet:780), Alveolar rhabdomyosarcoma (Orphanet:99756), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

95 total (30 of 95 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000252	Microcephaly
HP:0000271	Abnormality of the face
HP:0000272	Malar flattening
HP:0000275	Narrow face
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000327	Hypoplasia of the maxilla
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000430	Underdeveloped nasal alae
HP:0000431	Wide nasal bridge
HP:0000446	Narrow nasal bridge
HP:0000457	Depressed nasal ridge
HP:0000478	Abnormality of the eye
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000537	Epicanthus inversus
HP:0000564	Lacrimal duct atresia

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST001412_1	Facial morphology	4.000000e-16
GCST002337_102	Amyotrophic lateral sclerosis (sporadic)	1.000000e-06
GCST002602_1	Vitamin D levels	1.000000e-06
GCST002850_4	Information processing speed	7.000000e-07
GCST002875_34	Diisocyanate-induced asthma	5.000000e-06
GCST002875_79	Diisocyanate-induced asthma	5.000000e-06
GCST003128_3	Adolescent idiopathic scoliosis	8.000000e-13
GCST003477_4	Monobrow thickness	5.000000e-08
GCST003635_1	middle facial morphology traits (quantitative measurement)	4.000000e-11
GCST003996_1	Monobrow	8.000000e-104
GCST003999_22	Nose size	3.000000e-07
GCST006661_58	Male-pattern baldness	2.000000e-09
GCST006988_122	Blond vs. brown/black hair color	3.000000e-12
GCST006988_18	Blond vs. brown/black hair color	1.000000e-10
GCST006988_61	Blond vs. brown/black hair color	6.000000e-13
GCST007989_5	Facial morphology traits (63 three-dimensional facial segments)	4.000000e-14
GCST009464_17	Facial morphology	2.000000e-14
GCST009464_18	Facial morphology	1.000000e-08
GCST009464_30	Facial morphology	2.000000e-17
GCST009464_38	Facial morphology	3.000000e-09
GCST009464_41	Facial morphology	4.000000e-10
GCST009464_8	Facial morphology	1.000000e-13
GCST009464_9	Facial morphology	2.000000e-08
GCST011011_14	Youthful appearance (self-reported)	5.000000e-19
GCST011011_32	Youthful appearance (self-reported)	2.000000e-18
GCST011011_81	Youthful appearance (self-reported)	4.000000e-14

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004743	facial morphology
EFO:0004363	information processing speed
EFO:0006995	response to diisocyanate
EFO:0007906	synophrys measurement
EFO:0003924	hair color

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D065630	Hernias, Diaphragmatic, Congenital	C16.131.433; C23.300.707.960.500.116
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D018232	Rhabdomyosarcoma, Alveolar	C04.557.450.590.550.660.665; C04.557.450.795.550.660.665
D014849	Waardenburg Syndrome	C16.131.077.938
C536453	Craniofacial deafness hand syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169275 (CHIMERIC PROTEIN)

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

ChEMBL bioactivities

5 potent at pChembl≥5 of 11 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.27	IC50	5400	nM	CHEMBL5411675
5.24	IC50	5700	nM	CHEMBL5399207
5.19	IC50	6400	nM	CHEMBL5423897
5.03	IC50	9400	nM	CHEMBL5411675
5.01	IC50	9800	nM	CHEMBL5399207

PubChem BioAssay actives

5 with measured affinity, of 28 total; 3 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
(8-hydroxy-7-methoxy-2,6-dimethylisoquinolin-2-ium-5-yl) 2-[(7-methoxy-2,6-dimethyl-3,5,8-trioxoisoquinolin-4-yl)amino]ethanesulfonate	2006657: Inhibition of PAX3-FOXO1 (unknown origin) fusion protein expressed human Rh4 cells cotransfected with ALK-Luc incubated for 24 hrs by Steady-Glo luciferase assay	ic50	5.4000	uM
8-hydroxy-7-methoxy-5-[2-[(7-methoxy-2,6-dimethyl-3,5,8-trioxoisoquinolin-4-yl)amino]ethylsulfonyloxy]-2,6-dimethylisoquinolin-2-ium-3-carboxylic acid	2006657: Inhibition of PAX3-FOXO1 (unknown origin) fusion protein expressed human Rh4 cells cotransfected with ALK-Luc incubated for 24 hrs by Steady-Glo luciferase assay	ic50	5.7000	uM
methyl 8-hydroxy-7-methoxy-5-[2-[(7-methoxy-2,6-dimethyl-3,5,8-trioxoisoquinolin-4-yl)amino]ethylsulfonyloxy]-2,6-dimethylisoquinolin-2-ium-3-carboxylate	2006657: Inhibition of PAX3-FOXO1 (unknown origin) fusion protein expressed human Rh4 cells cotransfected with ALK-Luc incubated for 24 hrs by Steady-Glo luciferase assay	ic50	6.4000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	7
trichostatin A	increases expression, affects cotreatment	3
Tretinoin	affects cotreatment, increases expression, affects binding, decreases reaction, decreases expression	3
methylmercuric chloride	decreases expression	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
Chir 99021	increases expression, affects cotreatment, decreases expression	2
belinostat	increases expression, affects cotreatment	2
Vorinostat	increases expression, decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
FR900359	increases phosphorylation	1
propionaldehyde	decreases expression	1
bisphenol A	decreases methylation	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	affects methylation	1
glycolic acid	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
2,4-di-tert-butylphenol	decreases expression, affects cotreatment	1
CGP 52608	increases reaction, affects binding	1
nilotinib	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Dabigatran	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Abacavir	decreases expression	1
Amiodarone	increases expression	1

ChEMBL screening assays

17 unique, capped per target: 17 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5128651	Binding	Inhibition of PAX3-FOXO1 driven transcriptional activity in human Rh4 cells transfected with ALK-Luc construct incubated for 24 hrs by luciferase assay	Dentithecamides A-H, Diacylated Zoanthoxanthin Derivatives with PAX3-FOXO1 Inhibitory Activity from the Hydroid Dentitheca habereri. — J Nat Prod

Cellosaurus cell lines

31 cell lines: 22 cancer cell line, 4 induced pluripotent stem cell, 3 embryonic stem cell, 2 telomerase immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_0041	Rh30	Cancer cell line	Male
CVCL_1659	Rh18	Cancer cell line	Female
CVCL_2176	Rh41	Cancer cell line	Female
CVCL_4871	NRS-1	Cancer cell line	Female
CVCL_5916	Rh4	Cancer cell line	Female
CVCL_5917	Rh5	Cancer cell line	Sex unspecified
CVCL_7952	CW12	Cancer cell line	Sex unspecified
CVCL_8670	Rh41-807R	Cancer cell line	Female
CVCL_8751	Rh41-MAB391R	Cancer cell line	Female
CVCL_8752	Rh28	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05213676	PHASE4	RECRUITING	De-implementing Inhaled Nitric Oxide for Congenital Diaphragmatic Hernia
NCT07247240	PHASE4	NOT_YET_RECRUITING	Efficacy of Inhaled Nitric Oxide in Congenital Diaphragmatic Hernia
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT00257946	PHASE3	TERMINATED	Type of Material in Repair of Congenital Diaphragmatic Hernia
NCT03861182	PHASE3	TERMINATED	Contribution of PRF in CDH in Children With Prothetic Patch Closure
NCT06946576	PHASE3	NOT_YET_RECRUITING	Safety and Efficacy of Fetoscopic Endoluminal Tracheal Occlusion in Congenital Diaphragmatic Hernia
NCT07187206	PHASE3	RECRUITING	Safety and Efficacy of FETO in CDH Phase III
NCT02567435	PHASE3	ACTIVE_NOT_RECRUITING	Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma
NCT04994132	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Compare Early Use of Vinorelbine and Maintenance Therapy for Patients With High Risk Rhabdomyosarcoma
NCT06669013	PHASE3	RECRUITING	Chemo-immunotherapy in Patients Under 18 Years of Age With Bone and Soft Tissue Sarcomas
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00373438	PHASE2	UNKNOWN	Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic Hernia
NCT00966823	PHASE2	TERMINATED	Fetal Tracheal Balloon Study in Diaphragmatic Hernia
NCT01302977	PHASE2	UNKNOWN	Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized Trial
NCT01731509	PHASE2	UNKNOWN	Early FETO for Severe Congenital Diaphragmatic Hernia
NCT02875860	PHASE2	COMPLETED	‘TOTAL’ (Tracheal Occlusion To Accelerate Lung Growth) Trial
NCT02951130	PHASE2	COMPLETED	Milrinone in Congenital Diaphragmatic Hernia
NCT05201144	PHASE2	RECRUITING	A Trial of Phosphodiesterase-5 Inhibitor in Neonatal Congenital Diaphragmatic Hernia (TOP-CDH)
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
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