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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ABAT-C16orf62 (FusionGDB2 ID:HG18TG57020) |
Fusion Gene Summary for ABAT-C16orf62 |
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Fusion gene information | Fusion gene name: ABAT-C16orf62 | Fusion gene ID: hg18tg57020 | Hgene | Tgene | Gene symbol | ABAT | C16orf62 | Gene ID | 18 | 57020 |
Gene name | 4-aminobutyrate aminotransferase | VPS35 endosomal protein sorting factor like | |
Synonyms | GABA-AT|GABAT|NPD009 | C16orf62 | |
Cytomap | ('ABAT')('C16orf62') 16p13.2 | 16p12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | 4-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminasegamma-aminobutyrate aminotransferase | VPS35 endosomal protein sorting factor-likeUPF0505 protein C16orf62esophageal cancer associated protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000268251, ENST00000396600, ENST00000425191, ENST00000563215, ENST00000567812, ENST00000569156, | ||
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 13 X 12 X 9=1404 |
# samples | 5 | 17 | |
** MAII score | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(17/1404*10)=-3.04593628416686 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ABAT [Title/Abstract] AND C16orf62 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ABAT(8768568)-C16orf62(19663298), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ABAT | GO:0009448 | gamma-aminobutyric acid metabolic process | 15528998 |
![]() * 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 | BRCA | TCGA-AR-A0TX-01A | ABAT | chr16 | 8768568 | - | C16orf62 | chr16 | 19663298 | + |
ChimerDB4 | BRCA | TCGA-AR-A0TX-01A | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
ChimerDB4 | BRCA | TCGA-AR-A0TX | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
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Fusion Gene ORF analysis for ABAT-C16orf62 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000268251 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-3CDS | ENST00000268251 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
5UTR-3CDS | ENST00000268251 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-3CDS | ENST00000268251 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
5UTR-3CDS | ENST00000268251 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-3CDS | ENST00000268251 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
5UTR-3CDS | ENST00000268251 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-3CDS | ENST00000268251 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
5UTR-3CDS | ENST00000268251 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-3CDS | ENST00000268251 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
5UTR-3CDS | ENST00000268251 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-3CDS | ENST00000268251 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
5UTR-3UTR | ENST00000268251 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-3UTR | ENST00000268251 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
5UTR-intron | ENST00000268251 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
5UTR-intron | ENST00000268251 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000396600 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000396600 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000396600 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000396600 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000396600 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000396600 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000396600 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000396600 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000396600 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000396600 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000396600 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000396600 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000425191 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000425191 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000425191 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000425191 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000425191 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000425191 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000425191 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000425191 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000425191 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000425191 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000425191 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000425191 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000563215 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000563215 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000563215 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000563215 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000563215 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000563215 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000563215 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000563215 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000563215 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000563215 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000563215 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000563215 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000567812 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000567812 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000567812 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000567812 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000567812 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000567812 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000567812 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000567812 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000567812 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000567812 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000567812 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000567812 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000569156 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000569156 | ENST00000251143 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000569156 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000569156 | ENST00000417362 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000569156 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000569156 | ENST00000438132 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000569156 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000569156 | ENST00000448695 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000569156 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000569156 | ENST00000542263 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3CDS | ENST00000569156 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3CDS | ENST00000569156 | ENST00000543152 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3UTR | ENST00000396600 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3UTR | ENST00000396600 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3UTR | ENST00000425191 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3UTR | ENST00000425191 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3UTR | ENST00000563215 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3UTR | ENST00000563215 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3UTR | ENST00000567812 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3UTR | ENST00000567812 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-3UTR | ENST00000569156 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-3UTR | ENST00000569156 | ENST00000544275 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-intron | ENST00000396600 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-intron | ENST00000396600 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-intron | ENST00000425191 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-intron | ENST00000425191 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-intron | ENST00000563215 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-intron | ENST00000563215 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-intron | ENST00000567812 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-intron | ENST00000567812 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
intron-intron | ENST00000569156 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663298 | + |
intron-intron | ENST00000569156 | ENST00000538853 | ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ABAT-C16orf62 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + | 4.85E-07 | 0.9999995 |
ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + | 4.85E-07 | 0.9999995 |
ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + | 4.85E-07 | 0.9999995 |
ABAT | chr16 | 8768568 | + | C16orf62 | chr16 | 19663297 | + | 4.85E-07 | 0.9999995 |
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Fusion Protein Features for ABAT-C16orf62 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:8768568/:19663298) - 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. |
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Hgene | Tgene |
. | . |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and 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 |
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Fusion Gene Sequence for ABAT-C16orf62 |
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Fusion Gene PPI Analysis for ABAT-C16orf62 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ABAT-C16orf62 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ABAT-C16orf62 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABAT | C0342708 | Gamma aminobutyric acid transaminase deficiency | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ABAT | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | ABAT | C0017168 | Gastroesophageal reflux disease | 1 | CTD_human |
Hgene | ABAT | C0022333 | Jacksonian Seizure | 1 | CTD_human |
Hgene | ABAT | C0023380 | Lethargy | 1 | CTD_human |
Hgene | ABAT | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | ABAT | C0026825 | Flaccid Muscle Tone | 1 | CTD_human |
Hgene | ABAT | C0026827 | Muscle hypotonia | 1 | CTD_human |
Hgene | ABAT | C0033922 | Psychomotor Disorders | 1 | CTD_human |
Hgene | ABAT | C0034933 | Reflex, Abnormal | 1 | CTD_human |
Hgene | ABAT | C0036572 | Seizures | 1 | CTD_human |
Hgene | ABAT | C0149958 | Complex partial seizures | 1 | CTD_human |
Hgene | ABAT | C0151572 | Reflex, Corneal, Decreased | 1 | CTD_human |
Hgene | ABAT | C0151888 | Hyporeflexia | 1 | CTD_human |
Hgene | ABAT | C0151889 | Hyperreflexia | 1 | CTD_human |
Hgene | ABAT | C0234146 | Absent reflex | 1 | CTD_human |
Hgene | ABAT | C0234533 | Generalized seizures | 1 | CTD_human |
Hgene | ABAT | C0234535 | Clonic Seizures | 1 | CTD_human |
Hgene | ABAT | C0234784 | Reflex, Gag, Absent | 1 | CTD_human |
Hgene | ABAT | C0241772 | Reflex, Deep Tendon, Absent | 1 | CTD_human |
Hgene | ABAT | C0270824 | Visual seizure | 1 | CTD_human |
Hgene | ABAT | C0270844 | Tonic Seizures | 1 | CTD_human |
Hgene | ABAT | C0270846 | Epileptic drop attack | 1 | CTD_human |
Hgene | ABAT | C0277839 | Hoffman's Reflex | 1 | CTD_human |
Hgene | ABAT | C0277850 | Reflex, Pendular | 1 | CTD_human |
Hgene | ABAT | C0278211 | Reflex, Corneal, Absent | 1 | CTD_human |
Hgene | ABAT | C0422850 | Seizures, Somatosensory | 1 | CTD_human |
Hgene | ABAT | C0422852 | Seizures, Auditory | 1 | CTD_human |
Hgene | ABAT | C0422853 | Olfactory seizure | 1 | CTD_human |
Hgene | ABAT | C0422854 | Gustatory seizure | 1 | CTD_human |
Hgene | ABAT | C0422855 | Vertiginous seizure | 1 | CTD_human |
Hgene | ABAT | C0424230 | Motor retardation | 1 | CTD_human |
Hgene | ABAT | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND |
Hgene | ABAT | C0427201 | Floppy Muscles | 1 | CTD_human |
Hgene | ABAT | C0427202 | Muscle Tone Atonic | 1 | CTD_human |
Hgene | ABAT | C0494475 | Tonic - clonic seizures | 1 | CTD_human |
Hgene | ABAT | C0522345 | Reflex, Acoustic, Abnormal | 1 | CTD_human |
Hgene | ABAT | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND |
Hgene | ABAT | C0558845 | Reflex, Ankle, Absent | 1 | CTD_human |
Hgene | ABAT | C0558846 | Reflex, Triceps, Absent | 1 | CTD_human |
Hgene | ABAT | C0558847 | Reflex, Biceps, Absent | 1 | CTD_human |
Hgene | ABAT | C0576612 | Reflex, Anal, Absent | 1 | CTD_human |
Hgene | ABAT | C0743002 | Abnormal Deep Tendon Reflex | 1 | CTD_human |
Hgene | ABAT | C0751056 | Non-epileptic convulsion | 1 | CTD_human |
Hgene | ABAT | C0751110 | Single Seizure | 1 | CTD_human |
Hgene | ABAT | C0751123 | Atonic Absence Seizures | 1 | CTD_human |
Hgene | ABAT | C0751330 | Unilateral Hypotonia | 1 | CTD_human |
Hgene | ABAT | C0751456 | Developmental Psychomotor Disorders | 1 | CTD_human |
Hgene | ABAT | C0751468 | Bulbocavernosus Reflex, Decreased | 1 | CTD_human |
Hgene | ABAT | C0751469 | Bulbocavernousus Reflex Absent | 1 | CTD_human |
Hgene | ABAT | C0751470 | Palmo-Mental Reflex | 1 | CTD_human |
Hgene | ABAT | C0751471 | Reflex, Anal, Decreased | 1 | CTD_human |
Hgene | ABAT | C0751472 | Reflex, Ankle, Abnormal | 1 | CTD_human |
Hgene | ABAT | C0751473 | Reflex, Ankle, Decreased | 1 | CTD_human |
Hgene | ABAT | C0751474 | Reflex, Biceps, Abnormal | 1 | CTD_human |
Hgene | ABAT | C0751475 | Reflex, Biceps, Decreased | 1 | CTD_human |
Hgene | ABAT | C0751476 | Reflex, Gag, Decreased | 1 | CTD_human |
Hgene | ABAT | C0751477 | Reflex, Knee, Abnormal | 1 | CTD_human |
Hgene | ABAT | C0751478 | Reflex, Knee, Decreased | 1 | CTD_human |
Hgene | ABAT | C0751479 | Reflex, Moro, Asymmetric | 1 | CTD_human |
Hgene | ABAT | C0751480 | Reflex, Triceps, Abnormal | 1 | CTD_human |
Hgene | ABAT | C0751481 | Reflex, Triceps, Decreased | 1 | CTD_human |
Hgene | ABAT | C0751494 | Convulsive Seizures | 1 | CTD_human |
Hgene | ABAT | C0751495 | Seizures, Focal | 1 | CTD_human |
Hgene | ABAT | C0751496 | Seizures, Sensory | 1 | CTD_human |
Hgene | ABAT | C2267233 | Neonatal Hypotonia | 1 | CTD_human |
Hgene | ABAT | C3495874 | Nonepileptic Seizures | 1 | CTD_human |
Hgene | ABAT | C4048158 | Convulsions | 1 | CTD_human |
Hgene | ABAT | C4316903 | Absence Seizures | 1 | CTD_human |
Hgene | ABAT | C4317109 | Epileptic Seizures | 1 | CTD_human |
Hgene | ABAT | C4317123 | Myoclonic Seizures | 1 | CTD_human |
Hgene | ABAT | C4505436 | Generalized Absence Seizures | 1 | CTD_human |