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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DGUOK-STAMBP (FusionGDB2 ID:HG1716TG10617)

Fusion Gene Summary for DGUOK-STAMBP

check button Fusion gene summary
Fusion gene informationFusion gene name: DGUOK-STAMBP
Fusion gene ID: hg1716tg10617
HgeneTgene
Gene symbol

DGUOK

STAMBP

Gene ID

1716

10617

Gene namedeoxyguanosine kinaseSTAM binding protein
SynonymsMTDPS3|NCPH|PEOB4|dGKAMSH|MICCAP
Cytomap('DGUOK')('STAMBP')

2p13.1

2p13.1

Type of geneprotein-codingprotein-coding
Descriptiondeoxyguanosine kinase, mitochondrialSTAM-binding proteinassociated molecule with the SH3 domain of STAMendosome-associated ubiquitin isopeptidasetesticular secretory protein Li 54
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000462685, ENST00000264093, 
ENST00000348222, ENST00000356837, 
Fusion gene scores* DoF score6 X 5 X 6=1807 X 7 X 5=245
# samples 109
** MAII scorelog2(10/180*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/245*10)=-1.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DGUOK [Title/Abstract] AND STAMBP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDGUOK(74154179)-STAMBP(74086381), # samples:3
Anticipated loss of major functional domain due to fusion event.DGUOK-STAMBP seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene 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
HgeneDGUOK

GO:0046122

purine deoxyribonucleoside metabolic process

8706825



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-DK-A2I1-01ADGUOKchr2

74154179

-STAMBPchr2

74086381

+
ChimerDB4BLCATCGA-DK-A2I1-01ADGUOKchr2

74154179

+STAMBPchr2

74086381

+
ChimerDB4LUSCTCGA-NC-A5HL-01ADGUOKchr2

74174033

+STAMBPchr2

74097270

+
ChimerDB4LUSCTCGA-NC-A5HL-01ADGUOKchr2

74174033

-STAMBPchr2

74100479

+
ChimerDB4LUSCTCGA-NC-A5HLDGUOKchr2

74154179

+STAMBPchr2

74097270

+
ChimerDB4LUSCTCGA-NC-A5HLDGUOKchr2

74174033

+STAMBPchr2

74097270

+
ChimerDB4LUSCTCGA-NC-A5HLDGUOKchr2

74174033

+STAMBPchr2

74100479

+


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Fusion Gene ORF analysis for DGUOK-STAMBP

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000462685ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74086381

+
3UTR-3CDSENST00000462685ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74086381

+
3UTR-3CDSENST00000462685ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74086381

+
3UTR-3CDSENST00000462685ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74086381

+
3UTR-3UTRENST00000462685ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74100479

+
3UTR-3UTRENST00000462685ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74086381

+
3UTR-intronENST00000462685ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74100479

+
3UTR-intronENST00000462685ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74100479

+
3UTR-intronENST00000462685ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74100479

+
3UTR-intronENST00000462685ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74100479

+
3UTR-intronENST00000462685ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74086381

+
3UTR-intronENST00000462685ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74097270

+
3UTR-intronENST00000462685ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000264093ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000264093ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74086381

+
5CDS-3UTRENST00000348222ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000348222ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74086381

+
5CDS-3UTRENST00000356837ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000356837ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74086381

+
5CDS-intronENST00000264093ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000264093ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000264093ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000264093ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000264093ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74086381

+
5CDS-intronENST00000264093ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000264093ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000348222ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000348222ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000348222ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000348222ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000348222ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74086381

+
5CDS-intronENST00000348222ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000348222ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000356837ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000339566DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000356837ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000394070DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000356837ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000394073DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000356837ENST00000409707DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000486458DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000486458DGUOKchr2

74174033

+STAMBPchr2

74100479

+
5CDS-intronENST00000356837ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74086381

+
5CDS-intronENST00000356837ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000536064DGUOKchr2

74154179

+STAMBPchr2

74097270

+
5CDS-intronENST00000356837ENST00000536064DGUOKchr2

74174033

+STAMBPchr2

74100479

+
Frame-shiftENST00000264093ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000264093ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000264093ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000264093ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000348222ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000348222ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000348222ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000348222ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000356837ENST00000339566DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000356837ENST00000394070DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000356837ENST00000394073DGUOKchr2

74154179

+STAMBPchr2

74086381

+
Frame-shiftENST00000356837ENST00000409707DGUOKchr2

74154179

+STAMBPchr2

74086381

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

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

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Fusion Genomic Features for DGUOK-STAMBP


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
DGUOKchr274174033+STAMBPchr274100478+4.04E-060.99999595
DGUOKchr274154179+STAMBPchr274086380+3.53E-081
DGUOKchr274174033+STAMBPchr274100478+4.04E-060.99999595
DGUOKchr274154179+STAMBPchr274086380+3.53E-081


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for DGUOK-STAMBP


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/:74154179/:74086381)
- 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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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, 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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DGUOK-STAMBP


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DGUOK-STAMBP


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for DGUOK-STAMBP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DGUOK-STAMBP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDGUOKC3151513MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDGUOKC4310735PORTAL HYPERTENSION, NONCIRRHOTIC3GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDGUOKC4310935MITOCHONDRIAL DNA DEPLETION SYNDROME 32GENOMICS_ENGLAND
HgeneDGUOKC0008370Cholestasis1GENOMICS_ENGLAND
HgeneDGUOKC3711385Deoxyguanosine Kinase Deficiency1CTD_human
HgeneDGUOKC4310733PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 41CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3280296Microcephaly-capillary malformation syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0006111Brain Diseases1CTD_human
TgeneC0008073Developmental Disabilities1CTD_human
TgeneC0014544Epilepsy1CTD_human
TgeneC0025958Microcephaly1CTD_human
TgeneC0085584Encephalopathies1CTD_human
TgeneC0085996Child Development Deviations1CTD_human
TgeneC0085997Child Development Disorders, Specific1CTD_human
TgeneC0086237Epilepsy, Cryptogenic1CTD_human
TgeneC0236018Aura1CTD_human
TgeneC0751111Awakening Epilepsy1CTD_human
TgeneC1842180CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)1CTD_human
TgeneC1956147Microlissencephaly1CTD_human
TgeneC2675370Capillary Malformation Without Arteriovenous Malformation1CTD_human
TgeneC3853041Severe Congenital Microcephaly1CTD_human