FusionNeoAntigen Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine
leaf

Fusion Gene and Fusion Protein Summary

leaf

Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

leaf

Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

leaf

Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

leaf

Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

leaf

Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

leaf

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

leaf

Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

leaf

Potential target of CAR-T therapy development

leaf

Information on the samples that have these potential fusion neoantigens

leaf

Fusion Protein Targeting Drugs - (Manual Curation)

leaf

Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:TBL1XR1-RET

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TBL1XR1-RET
FusionPDB ID: 89554
FusionGDB2.0 ID: 89554
HgeneTgene
Gene symbol

TBL1XR1

RET

Gene ID

79718

5979

Gene nameTBL1X receptor 1ret proto-oncogene
SynonymsC21|DC42|IRA1|MRD41|TBLR1CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1
Cytomap

3q26.32

10q11.21

Type of geneprotein-codingprotein-coding
DescriptionF-box-like/WD repeat-containing protein TBL1XR1TBL1-related protein 1nuclear receptor co-repressor/HDAC3 complex subunitnuclear receptor corepressor/HDAC3 complex subunit TBLR1transducin beta like 1 X-linked receptor 1proto-oncogene tyrosine-protein kinase receptor RetRET receptor tyrosine kinasecadherin family member 12cadherin-related family member 16proto-oncogene c-Retrearranged during transfectionret proto-oncogene (multiple endocrine neoplasia and medullary
Modification date2020031320200322
UniProtAcc.

RTL1

Main function of 5'-partner protein: 1358
Ensembl transtripts involved in fusion geneENST idsENST00000457928, ENST00000430069, 
ENST00000340058, ENST00000355710, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score51 X 31 X 15=2371532 X 31 X 11=10912
# samples 6648
** MAII scorelog2(66/23715*10)=-5.16719003372107
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(48/10912*10)=-4.50673733341565
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: TBL1XR1 [Title/Abstract] AND RET [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: TBL1XR1 [Title/Abstract] AND RET [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TBL1XR1(176765088)-RET(43612032), # samples:3
Anticipated loss of major functional domain due to fusion event.TBL1XR1-RET 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.
TBL1XR1-RET 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.
TBL1XR1-RET 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.
TBL1XR1-RET 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.
TBL1XR1-RET seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
TBL1XR1-RET seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
TBL1XR1-RET seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
TBL1XR1-RET seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TBL1XR1-RET seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
TBL1XR1-RET seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
TBL1XR1-RET seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTBL1XR1

GO:0000122

negative regulation of transcription by RNA polymerase II

12628926

HgeneTBL1XR1

GO:0045893

positive regulation of transcription, DNA-templated

18193033

HgeneTBL1XR1

GO:0045944

positive regulation of transcription by RNA polymerase II

18193033

TgeneRET

GO:0030155

regulation of cell adhesion

21357690

TgeneRET

GO:0030335

positive regulation of cell migration

20702524

TgeneRET

GO:0033619

membrane protein proteolysis

21357690

TgeneRET

GO:0033630

positive regulation of cell adhesion mediated by integrin

20702524

TgeneRET

GO:0035860

glial cell-derived neurotrophic factor receptor signaling pathway

28953886

TgeneRET

GO:0043410

positive regulation of MAPK cascade

28846099



check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:176765088/chr10:43612032)
- 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.
FGviewer

check buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across TBL1XR1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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


Top

Fusion Amino Acid Sequences


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000430069TBL1XR1chr3176765088-ENST00000355710RETchr1043612032+441511242602332690
ENST00000430069TBL1XR1chr3176765088-ENST00000340058RETchr1043612032+295711242602206648
ENST00000430069TBL1XR1chr3176765087-ENST00000355710RETchr1043612031+441511242602332690
ENST00000430069TBL1XR1chr3176765087-ENST00000340058RETchr1043612031+295711242602206648

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000430069ENST00000355710TBL1XR1chr3176765088-RETchr1043612032+0.0027515570.9972485
ENST00000430069ENST00000340058TBL1XR1chr3176765088-RETchr1043612032+0.0077415030.9922585
ENST00000430069ENST00000355710TBL1XR1chr3176765087-RETchr1043612031+0.0027515570.9972485
ENST00000430069ENST00000340058TBL1XR1chr3176765087-RETchr1043612031+0.0077415030.9922585

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

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

Top

Fusion Protein Breakpoint Sequences for TBL1XR1-RET

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
TBL1XR1chr3176765087RETchr10436120311124288KKGNFILSAGVDKEDPKWEFPRKNLV
TBL1XR1chr3176765088RETchr10436120321124288KKGNFILSAGVDKEDPKWEFPRKNLV

Top

Potential FusionNeoAntigen Information of TBL1XR1-RET in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
TBL1XR1-RET_176765087_43612031.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
TBL1XR1-RETchr3176765087chr10436120311124HLA-B47:01KEDPKWEF0.99910.70681220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B44:03KEDPKWEF0.99790.971220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B45:01KEDPKWEFP0.97060.86181221
TBL1XR1-RETchr3176765087chr10436120311124HLA-B58:01GVDKEDPKW0.93540.9811918
TBL1XR1-RETchr3176765087chr10436120311124HLA-B41:01KEDPKWEFP0.27220.72421221
TBL1XR1-RETchr3176765087chr10436120311124HLA-B58:01AGVDKEDPKW0.99780.9737818
TBL1XR1-RETchr3176765087chr10436120311124HLA-B58:01SAGVDKEDPKW0.99980.961718
TBL1XR1-RETchr3176765087chr10436120311124HLA-B39:08KEDPKWEF0.98220.66471220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B44:07KEDPKWEF0.99790.971220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B44:26KEDPKWEF0.99790.971220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B44:13KEDPKWEF0.99790.971220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B40:04KEDPKWEF0.99680.73161220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B18:08KEDPKWEF0.99330.96871220
TBL1XR1-RETchr3176765087chr10436120311124HLA-B57:04GVDKEDPKW0.94150.8186918
TBL1XR1-RETchr3176765087chr10436120311124HLA-B57:02GVDKEDPKW0.86410.9607918
TBL1XR1-RETchr3176765087chr10436120311124HLA-B18:04DKEDPKWEF0.73120.97191120
TBL1XR1-RETchr3176765087chr10436120311124HLA-B18:07DKEDPKWEF0.58360.93511120
TBL1XR1-RETchr3176765087chr10436120311124HLA-B18:06DKEDPKWEF0.57090.96951120
TBL1XR1-RETchr3176765087chr10436120311124HLA-B18:03DKEDPKWEF0.55310.96541120
TBL1XR1-RETchr3176765087chr10436120311124HLA-B18:08DKEDPKWEF0.5070.96071120
TBL1XR1-RETchr3176765087chr10436120311124HLA-B57:04AGVDKEDPKW0.99940.8014818
TBL1XR1-RETchr3176765087chr10436120311124HLA-B57:02AGVDKEDPKW0.99460.964818
TBL1XR1-RETchr3176765087chr10436120311124HLA-B57:04SAGVDKEDPKW0.99990.806718
TBL1XR1-RETchr3176765087chr10436120311124HLA-B57:02SAGVDKEDPKW0.99980.9558718

Top

Potential FusionNeoAntigen Information of TBL1XR1-RET in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
TBL1XR1-RET_176765087_43612031.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)
TBL1XR1-RETchr3176765087chr10436120311124DRB1-0411GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB1-0451GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB1-0467GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB1-0467KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB1-0491GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB1-0902KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0101GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0101KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0103GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0103KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0104GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0106GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0106KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0107GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0107KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0108GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB4-0108KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0101KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0101KKGNFILSAGVDKED015
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0102KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0103KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0104KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0104KKGNFILSAGVDKED015
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0105KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0105KKGNFILSAGVDKED015
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0108NKGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0111KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0111KKGNFILSAGVDKED015
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0112KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0112KKGNFILSAGVDKED015
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0112GNFILSAGVDKEDPK217
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0113KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0113KKGNFILSAGVDKED015
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0114KGNFILSAGVDKEDP116
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0114KKGNFILSAGVDKED015
TBL1XR1-RETchr3176765087chr10436120311124DRB5-0203KGNFILSAGVDKEDP116

Top

Fusion breakpoint peptide structures of TBL1XR1-RET

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
5586LSAGVDKEDPKWEFTBL1XR1RETchr3176765087chr10436120311124

Top

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of TBL1XR1-RET

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN5586LSAGVDKEDPKWEF-7.14368-7.25548
HLA-B14:023BVN5586LSAGVDKEDPKWEF-6.90724-7.95034
HLA-B52:013W395586LSAGVDKEDPKWEF-7.67666-8.71976
HLA-B52:013W395586LSAGVDKEDPKWEF-5.5221-5.6339
HLA-A11:014UQ25586LSAGVDKEDPKWEF-8.37369-9.41679
HLA-A11:014UQ25586LSAGVDKEDPKWEF-6.26273-6.37453
HLA-A24:025HGA5586LSAGVDKEDPKWEF-7.6158-8.6589
HLA-A24:025HGA5586LSAGVDKEDPKWEF-5.36701-5.47881
HLA-B44:053DX85586LSAGVDKEDPKWEF-8.09865-8.21045
HLA-B44:053DX85586LSAGVDKEDPKWEF-5.97829-7.02139

Top

Vaccine Design for the FusionNeoAntigens of TBL1XR1-RET

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
TBL1XR1-RETchr3176765087chr10436120311120DKEDPKWEFGACAAGGAGGATCCAAAGTGGGAATTC
TBL1XR1-RETchr3176765087chr10436120311220KEDPKWEFAAGGAGGATCCAAAGTGGGAATTC
TBL1XR1-RETchr3176765087chr10436120311221KEDPKWEFPAAGGAGGATCCAAAGTGGGAATTCCCT
TBL1XR1-RETchr3176765087chr1043612031718SAGVDKEDPKWAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGG
TBL1XR1-RETchr3176765087chr1043612031818AGVDKEDPKWGCTGGAGTAGACAAGGAGGATCCAAAGTGG
TBL1XR1-RETchr3176765087chr1043612031918GVDKEDPKWGGAGTAGACAAGGAGGATCCAAAGTGG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
TBL1XR1-RETchr3176765087chr1043612031015KKGNFILSAGVDKEDAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGAT
TBL1XR1-RETchr3176765087chr1043612031116KGNFILSAGVDKEDPAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCA
TBL1XR1-RETchr3176765087chr1043612031217GNFILSAGVDKEDPKGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAG

Top

Information of the samples that have these potential fusion neoantigens of TBL1XR1-RET

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
THCATBL1XR1-RETchr3176765087ENST00000430069chr1043612031ENST00000340058TCGA-ET-A40R

Top

Potential target of CAR-T therapy development for TBL1XR1-RET

check button Predicted 3D structure. We used RoseTTAFold.

check buttonRetention 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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

Top

Related Drugs to TBL1XR1-RET

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

Top

Related Diseases to TBL1XR1-RET

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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRETC1833921Familial medullary thyroid carcinoma23CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRETC3888239HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 116GENOMICS_ENGLAND;UNIPROT
TgeneRETC0025268Multiple Endocrine Neoplasia Type 2a15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRETC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome12CLINGEN
TgeneRETC0025269Multiple Endocrine Neoplasia Type 2b10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRETC0238463Papillary thyroid carcinoma3CTD_human;ORPHANET
TgeneRETC1275808Congenital central hypoventilation3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRETC1859049CCHS WITH HIRSCHSPRUNG DISEASE3CTD_human;ORPHANET
TgeneRETC0009402Colorectal Carcinoma2CTD_human;UNIPROT
TgeneRETC0009404Colorectal Neoplasms2CTD_human
TgeneRETC0019569Hirschsprung Disease2CTD_human
TgeneRETC0027662Multiple Endocrine Neoplasia2CTD_human;GENOMICS_ENGLAND
TgeneRETC0085758Aganglionosis, Colonic2CTD_human
TgeneRETC0266294Unilateral agenesis of kidney2ORPHANET
TgeneRETC1257840Aganglionosis, Rectosigmoid Colon2CTD_human
TgeneRETC3661523Congenital Intestinal Aganglionosis2CTD_human
TgeneRETC0006413Burkitt Lymphoma1CTD_human
TgeneRETC0031511Pheochromocytoma1CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRETC0038220Status Epilepticus1CTD_human
TgeneRETC0040136Thyroid Neoplasm1CGI;CTD_human
TgeneRETC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneRETC0206693Medullary carcinoma1CTD_human
TgeneRETC0238462Medullary carcinoma of thyroid1CGI;CTD_human
TgeneRETC0270823Petit mal status1CTD_human
TgeneRETC0311335Grand Mal Status Epilepticus1CTD_human
TgeneRETC0343640African Burkitt's lymphoma1CTD_human
TgeneRETC0393734Complex Partial Status Epilepticus1CTD_human
TgeneRETC0549473Thyroid carcinoma1CGI;CTD_human;UNIPROT
TgeneRETC0740340Amyloidosis, Familial1CTD_human
TgeneRETC0751522Status Epilepticus, Subclinical1CTD_human
TgeneRETC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneRETC0751524Simple Partial Status Epilepticus1CTD_human
TgeneRETC1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneRETC1609433Congenital absence of kidneys syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneRETC3501843Nonmedullary Thyroid Carcinoma1CTD_human
TgeneRETC3501844Familial Nonmedullary Thyroid Cancer1CTD_human
TgeneRETC4721444Burkitt Leukemia1CTD_human