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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:FOXO1-PAX3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: FOXO1-PAX3
	FusionPDB ID: 31165
	FusionGDB2.0 ID: 31165
		Hgene	Tgene
	Gene symbol	FOXO1	PAX3
	Gene ID	2308	5077
	Gene name	forkhead box O1	paired box 3
	Synonyms	FKH1\|FKHR\|FOXO1A	CDHS\|HUP2\|WS1\|WS3
	Cytomap	13q14.11	2q36.1
	Type of gene	protein-coding	protein-coding
	Description	forkhead box protein O1forkhead box protein O1Aforkhead, Drosophila, homolog of, in rhabdomyosarcoma	paired box protein Pax-3paired box homeotic gene 3paired domain gene 3paired domain gene HuP2transcriptional factor PAX3
	Modification date	20200322	20200313
	UniProtAcc	Q12778	PAXBP1
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000379561, ENST00000473775,	ENST00000464706, ENST00000258387, ENST00000336840, ENST00000344493, ENST00000350526, ENST00000392070, ENST00000409551, ENST00000409828, ENST00000392069,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 12 X 9=1404	8 X 11 X 3=264
	# samples	16	9
	** MAII score	log2(16/1404*10)=-3.1333991254172 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/264*10)=-1.55254102302878 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: FOXO1 [Title/Abstract] AND PAX3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	PAX3(223084859)-FOXO1(41135000), # samples:4 FOXO1(41239718)-PAX3(223066911), # samples:3
Anticipated loss of major functional domain due to fusion event.	FOXO1-PAX3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FOXO1-PAX3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FOXO1-PAX3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FOXO1-PAX3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. PAX3-FOXO1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. PAX3-FOXO1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	FOXO1	GO:0009267	cellular response to starvation	20543840
Hgene	FOXO1	GO:0032873	negative regulation of stress-activated MAPK cascade	19696738
Hgene	FOXO1	GO:0043066	negative regulation of apoptotic process	10871843
Hgene	FOXO1	GO:0045893	positive regulation of transcription, DNA-templated	7862145\|10871843\|12228231
Hgene	FOXO1	GO:0045944	positive regulation of transcription by RNA polymerase II	10871843\|12228231
Hgene	FOXO1	GO:0071455	cellular response to hyperoxia	20543840
Tgene	PAX3	GO:0045893	positive regulation of transcription, DNA-templated	11863357
Tgene	PAX3	GO:0045944	positive regulation of transcription by RNA polymerase II	11863357

Fusion gene breakpoints across FOXO1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across PAX3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	rhabdomyosarcoma	JX141474	FOXO1	chr13	41240779		PAX3	chr2	223066552
ChimerKB3	.	.	FOXO1	chr13	41132547	-	PAX3	chr2	223163383	-
ChimerKB3	.	.	FOXO1	chr13	41134997	-	PAX3	chr2	223084858	-
ChimerKB4	.	.	FOXO1	chr13	41134997	-	PAX3	chr2	223084858	-
ChiTaRS5.0	N/A	JX141474	FOXO1	chr13	41239718	-	PAX3	chr2	223066911	-
ChiTaRS5.0	N/A	JX141475	FOXO1	chr13	41239718	-	PAX3	chr2	223066911	-
ChiTaRS5.0	N/A	JX141476	FOXO1	chr13	41239718	-	PAX3	chr2	223066911	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000379561

FOXO1

chr13

41239718

ENST00000392069

PAX3

chr2

223066911

2646

1015

1359

438

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000379561	ENST00000392069	FOXO1	chr13	41239718	-	PAX3	chr2	223066911	-	0.004621498	0.9953785

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>31165_31165_1_FOXO1-PAX3_FOXO1_chr13_41239718_ENST00000379561_PAX3_chr2_223066911_ENST00000392069_length(amino acids)=438AA_BP=324
MGRASGPRRPSVLPSAALSAGARRRLCPGPAALAGRPVRAADPEEPRCGWPREVKFWARASTPPRLPPSFRPLAAPASFPQISDRPFAPP
PRPPPVLRSPPLGSPAAGGGAGVTMAEAPQVVEIDPDFEPLPRPRSCTWPLPRPEFSQSNSATSSPAPSGSAAANPDAAAGLPSASAAAV
SADFMSNLSLLEESEDFPQAPGSVAAAVAAAAAAAATGGLCGDFQGPEAGCLHPAPPQPPPPGPLSQHPPVPPAAAGPLAGQPRKSSSSR
RNAWGNLSYADLITKAIESSAEKRLTLSQIYEWMVKSVPYFKDKGDSNSSAGWKVMGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSA

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:223084859/chr2:41135000)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
FOXO1 Q12778	PAX3 PAXBP1
FUNCTION: Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress (PubMed:10358076, PubMed:12228231, PubMed:15220471, PubMed:15890677, PubMed:18356527, PubMed:19221179, PubMed:20543840, PubMed:21245099). Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3' (PubMed:10358076). Activity suppressed by insulin (PubMed:10358076). Main regulator of redox balance and osteoblast numbers and controls bone mass (By similarity). Orchestrates the endocrine function of the skeleton in regulating glucose metabolism (By similarity). Also acts as a key regulator of chondrogenic commitment of skeletal progenitor cells in response to lipid availability: when lipids levels are low, translocates to the nucleus and promotes expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Acts synergistically with ATF4 to suppress osteocalcin/BGLAP activity, increasing glucose levels and triggering glucose intolerance and insulin insensitivity (By similarity). Also suppresses the transcriptional activity of RUNX2, an upstream activator of osteocalcin/BGLAP (By similarity). In hepatocytes, promotes gluconeogenesis by acting together with PPARGC1A and CEBPA to activate the expression of genes such as IGFBP1, G6PC1 and PCK1 (By similarity). Important regulator of cell death acting downstream of CDK1, PKB/AKT1 and STK4/MST1 (PubMed:18356527, PubMed:19221179). Promotes neural cell death (PubMed:18356527). Mediates insulin action on adipose tissue (By similarity). Regulates the expression of adipogenic genes such as PPARG during preadipocyte differentiation and, adipocyte size and adipose tissue-specific gene expression in response to excessive calorie intake (By similarity). Regulates the transcriptional activity of GADD45A and repair of nitric oxide-damaged DNA in beta-cells (By similarity). Required for the autophagic cell death induction in response to starvation or oxidative stress in a transcription-independent manner (PubMed:20543840). Mediates the function of MLIP in cardiomyocytes hypertrophy and cardiac remodeling (By similarity). Regulates endothelial cell (EC) viability and apoptosis in a PPIA/CYPA-dependent manner via transcription of CCL2 and BCL2L11 which are involved in EC chemotaxis and apoptosis (PubMed:31063815). {ECO:0000250\|UniProtKB:A4L7N3, ECO:0000250\|UniProtKB:G3V7R4, ECO:0000250\|UniProtKB:Q9R1E0, ECO:0000269\|PubMed:10358076, ECO:0000269\|PubMed:12228231, ECO:0000269\|PubMed:15220471, ECO:0000269\|PubMed:15890677, ECO:0000269\|PubMed:18356527, ECO:0000269\|PubMed:19221179, ECO:0000269\|PubMed:20543840, ECO:0000269\|PubMed:21245099, ECO:0000269\|PubMed:31063815}.	917

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

FOXO1

chr13:41239718

chr2:223066911

ENST00000379561

120_130

210.0

1440.3333333333333

Compositional bias

Note=Poly-Pro

Hgene

FOXO1

chr13:41239718

chr2:223066911

ENST00000379561

152_155

210.0

1440.3333333333333

Compositional bias

Note=Poly-Ser

Hgene

FOXO1

chr13:41239718

chr2:223066911

ENST00000379561

91_102

210.0

1440.3333333333333

Compositional bias

Note=Poly-Ala

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000258387

219_278

207.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000258387

34_161

207.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000336840

219_278

408.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000336840

34_161

408.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000344493

219_278

404.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000344493

34_161

404.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409828

219_278

216.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409828

34_161

216.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000258387

113_161

207.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000258387

37_93

207.0

Region

PAI subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000336840

113_161

408.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000336840

37_93

408.0

Region

PAI subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000344493

113_161

404.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000344493

37_93

404.0

Region

PAI subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409828

113_161

216.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409828

37_93

216.0

Region

PAI subdomain

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

FOXO1

chr13:41239718

chr2:223066911

ENST00000379561

159_235

210.0

1440.3333333333333

DNA binding

Fork-head

Hgene

FOXO1

chr13:41239718

chr2:223066911

ENST00000379561

211_218

210.0

1440.3333333333333

Region

Note=DNA-binding

Hgene

FOXO1

chr13:41239718

chr2:223066911

ENST00000379561

234_237

210.0

1440.3333333333333

Region

Note=DNA-binding

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000350526

219_278

391.0

480.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000350526

34_161

391.0

480.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392069

219_278

391.0

506.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392069

34_161

391.0

506.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392070

219_278

391.0

485.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392070

34_161

391.0

485.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409551

219_278

390.0

484.0

DNA binding

Homeobox

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409551

34_161

390.0

484.0

DNA binding

Paired

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000350526

113_161

391.0

480.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000350526

37_93

391.0

480.0

Region

PAI subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392069

113_161

391.0

506.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392069

37_93

391.0

506.0

Region

PAI subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392070

113_161

391.0

485.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000392070

37_93

391.0

485.0

Region

PAI subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409551

113_161

390.0

484.0

Region

RED subdomain

Tgene

PAX3

chr13:41239718

chr2:223066911

ENST00000409551

37_93

390.0

484.0

Region

PAI subdomain

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>918_FOXO1_41239718_PAX3_223066911_918_FOXO1_41239718_PAX3_223066911_ranked_0.pdb	FOXO1	41239718	41239718	ENST00000392069	PAX3	chr2	223066911	-	MGRASGPRRPSVLPSAALSAGARRRLCPGPAALAGRPVRAADPEEPRCGWPREVKFWARASTPPRLPPSFRPLAAPASFPQISDRPFAPP PRPPPVLRSPPLGSPAAGGGAGVTMAEAPQVVEIDPDFEPLPRPRSCTWPLPRPEFSQSNSATSSPAPSGSAAANPDAAAGLPSASAAAV SADFMSNLSLLEESEDFPQAPGSVAAAVAAAAAAAATGGLCGDFQGPEAGCLHPAPPQPPPPGPLSQHPPVPPAAAGPLAGQPRKSSSSR RNAWGNLSYADLITKAIESSAEKRLTLSQIYEWMVKSVPYFKDKGDSNSSAGWKVMGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSA	438

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

FOXO1_pLDDT.png

PAX3_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene	PPI interactors
PAX3	IPO13, SOX10, DAXX, MSX1, MEOX1, MEOX2, TBP, PSMD4, Rad23b, RAD23B, HDAC10, TRIM28, HDAC1, POU3F2, TAF1, PCTP, SPIN1, SKAP1, FOXE1, FZR1, NELL2, EGLN3, KRTAP8-1, KRTAP6-2, KIF20A, CIC, FOXO1, IGLC1, COL1A1, NTPCR, HBB, COL1A2, COL3A1, FITM2, MPL, S100A2, FBLN5,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
FOXO1
PAX3

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to FOXO1-PAX3

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to FOXO1-PAX3

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	FOXO1	C0020542	Pulmonary Hypertension	1	CTD_human
Hgene	FOXO1	C0022578	Keratoconus	1	CTD_human
Hgene	FOXO1	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
Hgene	FOXO1	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
Hgene	FOXO1	C0033578	Prostatic Neoplasms	1	CTD_human
Hgene	FOXO1	C0206655	Alveolar rhabdomyosarcoma	1	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	FOXO1	C0376358	Malignant neoplasm of prostate	1	CTD_human
Hgene	FOXO1	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
Tgene	PAX3	C1847800	Waardenburg Syndrome Type 1	33	CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	PAX3	C0079661	Klein's Syndrome	16	CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	PAX3	C3266898	Waardenburg Syndrome	12	CLINGEN;CTD_human;GENOMICS_ENGLAND
Tgene	PAX3	C1852510	Craniofacial deafness hand syndrome	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	PAX3	C0038219	Status Dysraphicus	4	CTD_human
Tgene	PAX3	C0080178	Spina Bifida	4	CTD_human
Tgene	PAX3	C0266508	Rachischisis	4	CTD_human
Tgene	PAX3	C0011999	Diastematomyelia	3	CTD_human
Tgene	PAX3	C0027794	Neural Tube Defects	3	CTD_human
Tgene	PAX3	C0027806	Neurenteric Cyst	3	CTD_human
Tgene	PAX3	C0080218	Tethered Cord Syndrome	3	CTD_human
Tgene	PAX3	C0152234	Iniencephaly	3	CTD_human
Tgene	PAX3	C0152426	Craniorachischisis	3	CTD_human
Tgene	PAX3	C0266453	Exencephaly	3	CTD_human
Tgene	PAX3	C0344479	Spinal Cord Myelodysplasia	3	CTD_human
Tgene	PAX3	C0599973	Waardenburg Anophthalmia Syndrome	3	ORPHANET
Tgene	PAX3	C0702169	Acrania	3	CTD_human
Tgene	PAX3	C0206655	Alveolar rhabdomyosarcoma	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene	PAX3	C0011052	Prelingual Deafness	1	CTD_human
Tgene	PAX3	C0011053	Deafness	1	CTD_human
Tgene	PAX3	C0018566	Congenital Hand Deformities	1	CTD_human
Tgene	PAX3	C0086395	Hearing Loss, Extreme	1	CTD_human
Tgene	PAX3	C0205944	Sarcoma, Epithelioid	1	CTD_human
Tgene	PAX3	C0205945	Sarcoma, Spindle Cell	1	CTD_human
Tgene	PAX3	C0265541	Cranioschisis	1	CTD_human
Tgene	PAX3	C0376634	Craniofacial Abnormalities	1	CTD_human
Tgene	PAX3	C0497552	Congenital neurologic anomalies	1	CTD_human
Tgene	PAX3	C0581883	Complete Hearing Loss	1	CTD_human
Tgene	PAX3	C0751068	Deafness, Acquired	1	CTD_human
Tgene	PAX3	C1261473	Sarcoma	1	CTD_human
Tgene	PAX3	C1710096	Sinonasal undifferentiated carcinoma	1	CTD_human
Tgene	PAX3	C3665473	Bilateral Deafness	1	CTD_human
Tgene	PAX3	C4082305	Deaf Mutism	1	CTD_human