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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:TP53-PFKL (FusionGDB2 ID:HG7157TG5211) |
Fusion Gene Summary for TP53-PFKL |
Fusion gene summary |
Fusion gene information | Fusion gene name: TP53-PFKL | Fusion gene ID: hg7157tg5211 | Hgene | Tgene | Gene symbol | TP53 | PFKL | Gene ID | 7157 | 5211 |
Gene name | tumor protein p53 | phosphofructokinase, liver type | |
Synonyms | BCC7|BMFS5|LFS1|P53|TRP53 | ATP-PFK|PFK-B|PFK-L | |
Cytomap | ('TP53')('PFKL') 17p13.1 | 21q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | cellular tumor antigen p53antigen NY-CO-13mutant tumor protein 53p53 tumor suppressorphosphoprotein p53transformation-related protein 53tumor protein 53tumor supressor p53 | ATP-dependent 6-phosphofructokinase, liver type6-phosphofructokinase type B6-phosphofructokinase, liver typeliver-type 1-phosphofructokinasephosphofructo-1-kinase isozyme Bphosphohexokinase | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000269305, ENST00000420246, ENST00000445888, ENST00000455263, ENST00000359597, ENST00000413465, ENST00000574684, | ||
Fusion gene scores | * DoF score | 30 X 19 X 10=5700 | 12 X 10 X 7=840 |
# samples | 37 | 13 | |
** MAII score | log2(37/5700*10)=-3.94536474342315 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/840*10)=-2.69187770463767 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TP53 [Title/Abstract] AND PFKL [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | TP53(7590695)-PFKL(45726564), # samples:1 | ||
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) |
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 | TP53 | GO:0000733 | DNA strand renaturation | 8183576 |
Hgene | TP53 | GO:0006355 | regulation of transcription, DNA-templated | 7587074 |
Hgene | TP53 | GO:0006974 | cellular response to DNA damage stimulus | 14744935|15710329|17938203 |
Hgene | TP53 | GO:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | 16213212 |
Hgene | TP53 | GO:0006983 | ER overload response | 14744935 |
Hgene | TP53 | GO:0007050 | cell cycle arrest | 15149599 |
Hgene | TP53 | GO:0008104 | protein localization | 16507995 |
Hgene | TP53 | GO:0008285 | negative regulation of cell proliferation | 22783376 |
Hgene | TP53 | GO:0010628 | positive regulation of gene expression | 15314173|20332243 |
Hgene | TP53 | GO:0030330 | DNA damage response, signal transduction by p53 class mediator | 15149599 |
Hgene | TP53 | GO:0031497 | chromatin assembly | 16322561 |
Hgene | TP53 | GO:0034644 | cellular response to UV | 16213212|23629966 |
Hgene | TP53 | GO:0036003 | positive regulation of transcription from RNA polymerase II promoter in response to stress | 30089260 |
Hgene | TP53 | GO:0042149 | cellular response to glucose starvation | 14744935|21471221 |
Hgene | TP53 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 14654789|14744935|17403783 |
Hgene | TP53 | GO:0042981 | regulation of apoptotic process | 14744935 |
Hgene | TP53 | GO:0043065 | positive regulation of apoptotic process | 12667443|15565177|20959462 |
Hgene | TP53 | GO:0045892 | negative regulation of transcription, DNA-templated | 24051492 |
Hgene | TP53 | GO:0045893 | positive regulation of transcription, DNA-templated | 16322561|17403783|18549481|20378837 |
Hgene | TP53 | GO:0045899 | positive regulation of RNA polymerase II transcriptional preinitiation complex assembly | 24289924 |
Hgene | TP53 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11672523|17145718|17310983|17599062|18549481|20959462|24652652 |
Hgene | TP53 | GO:0051123 | RNA polymerase II preinitiation complex assembly | 24289924 |
Hgene | TP53 | GO:0051974 | negative regulation of telomerase activity | 10597287 |
Hgene | TP53 | GO:0065003 | protein-containing complex assembly | 12915590 |
Hgene | TP53 | GO:0071158 | positive regulation of cell cycle arrest | 15314173 |
Hgene | TP53 | GO:0071480 | cellular response to gamma radiation | 16213212 |
Hgene | TP53 | GO:0072331 | signal transduction by p53 class mediator | 15314173 |
Hgene | TP53 | GO:0072717 | cellular response to actinomycin D | 15314173 |
Hgene | TP53 | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 14963330 |
Hgene | TP53 | GO:0097252 | oligodendrocyte apoptotic process | 7720704 |
Hgene | TP53 | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 20546595 |
Hgene | TP53 | GO:1903800 | positive regulation of production of miRNAs involved in gene silencing by miRNA | 26100857 |
Hgene | TP53 | GO:1990248 | regulation of transcription from RNA polymerase II promoter in response to DNA damage | 30089260 |
Tgene | PFKL | GO:0006002 | fructose 6-phosphate metabolic process | 6444532|6444721 |
Tgene | PFKL | GO:0006096 | glycolytic process | 6227635|6444532|22923583 |
Tgene | PFKL | GO:0009749 | response to glucose | 22923583 |
Tgene | PFKL | GO:0030388 | fructose 1,6-bisphosphate metabolic process | 22923583 |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | SARC | TCGA-DX-A8BT-01A | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
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Fusion Gene ORF analysis for TP53-PFKL |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000269305 | ENST00000349048 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3CDS | ENST00000269305 | ENST00000403390 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3CDS | ENST00000420246 | ENST00000349048 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3CDS | ENST00000420246 | ENST00000403390 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3CDS | ENST00000445888 | ENST00000349048 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3CDS | ENST00000445888 | ENST00000403390 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3CDS | ENST00000455263 | ENST00000349048 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3CDS | ENST00000455263 | ENST00000403390 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3UTR | ENST00000269305 | ENST00000496824 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3UTR | ENST00000420246 | ENST00000496824 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3UTR | ENST00000445888 | ENST00000496824 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
5UTR-3UTR | ENST00000455263 | ENST00000496824 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3CDS | ENST00000359597 | ENST00000349048 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3CDS | ENST00000359597 | ENST00000403390 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3CDS | ENST00000413465 | ENST00000349048 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3CDS | ENST00000413465 | ENST00000403390 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3CDS | ENST00000574684 | ENST00000349048 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3CDS | ENST00000574684 | ENST00000403390 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3UTR | ENST00000359597 | ENST00000496824 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3UTR | ENST00000413465 | ENST00000496824 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
intron-3UTR | ENST00000574684 | ENST00000496824 | TP53 | chr17 | 7590695 | - | PFKL | chr21 | 45726564 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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) |
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 |
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Fusion Genomic Features for TP53-PFKL |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
TP53 | chr17 | 7590694 | - | PFKL | chr21 | 45726563 | + | 7.30E-06 | 0.9999927 |
TP53 | chr17 | 7590694 | - | PFKL | chr21 | 45726563 | + | 7.30E-06 | 0.9999927 |
Distribution 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. |
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Fusion Protein Features for TP53-PFKL |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7590695/:45726564) - 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 |
. | . |
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}. |
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 * 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 TP53-PFKL |
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 TP53-PFKL |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for TP53-PFKL |
Drugs targeting genes involved in this fusion gene. (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 TP53-PFKL |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TP53 | C0085390 | Li-Fraumeni Syndrome | 22 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | TP53 | C0009402 | Colorectal Carcinoma | 8 | CTD_human;GENOMICS_ENGLAND |
Hgene | TP53 | C0009404 | Colorectal Neoplasms | 8 | CTD_human |
Hgene | TP53 | C0033578 | Prostatic Neoplasms | 8 | CTD_human |
Hgene | TP53 | C0376358 | Malignant neoplasm of prostate | 8 | CTD_human |
Hgene | TP53 | C0006142 | Malignant neoplasm of breast | 6 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | TP53 | C0023434 | Chronic Lymphocytic Leukemia | 6 | CGI;CTD_human;ORPHANET |
Hgene | TP53 | C0678222 | Breast Carcinoma | 6 | CGI;CTD_human |
Hgene | TP53 | C1257931 | Mammary Neoplasms, Human | 6 | CTD_human |
Hgene | TP53 | C1458155 | Mammary Neoplasms | 6 | CTD_human |
Hgene | TP53 | C2239176 | Liver carcinoma | 6 | CGI;CTD_human;GENOMICS_ENGLAND |
Hgene | TP53 | C4704874 | Mammary Carcinoma, Human | 6 | CTD_human |
Hgene | TP53 | C0005684 | Malignant neoplasm of urinary bladder | 5 | CTD_human |
Hgene | TP53 | C0005695 | Bladder Neoplasm | 5 | CTD_human |
Hgene | TP53 | C0024121 | Lung Neoplasms | 5 | CGI;CTD_human |
Hgene | TP53 | C0206686 | Adrenocortical carcinoma | 5 | CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | TP53 | C0242379 | Malignant neoplasm of lung | 5 | CGI;CTD_human |
Hgene | TP53 | C0855095 | Small Lymphocytic Lymphoma | 5 | ORPHANET |
Hgene | TP53 | C1868683 | B-CELL MALIGNANCY, LOW-GRADE | 5 | ORPHANET |
Hgene | TP53 | C0007131 | Non-Small Cell Lung Carcinoma | 4 | CTD_human |
Hgene | TP53 | C0007134 | Renal Cell Carcinoma | 4 | CTD_human |
Hgene | TP53 | C0025202 | melanoma | 4 | CGI;CTD_human |
Hgene | TP53 | C0029463 | Osteosarcoma | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | TP53 | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 4 | CTD_human |
Hgene | TP53 | C1266042 | Chromophobe Renal Cell Carcinoma | 4 | CTD_human |
Hgene | TP53 | C1266043 | Sarcomatoid Renal Cell Carcinoma | 4 | CTD_human |
Hgene | TP53 | C1266044 | Collecting Duct Carcinoma of the Kidney | 4 | CTD_human |
Hgene | TP53 | C1306837 | Papillary Renal Cell Carcinoma | 4 | CTD_human |
Hgene | TP53 | C0001418 | Adenocarcinoma | 3 | CTD_human |
Hgene | TP53 | C0007102 | Malignant tumor of colon | 3 | CTD_human |
Hgene | TP53 | C0009375 | Colonic Neoplasms | 3 | CTD_human |
Hgene | TP53 | C0017638 | Glioma | 3 | CGI;CTD_human |
Hgene | TP53 | C0040028 | Thrombocythemia, Essential | 3 | ORPHANET |
Hgene | TP53 | C0149925 | Small cell carcinoma of lung | 3 | CTD_human;ORPHANET |
Hgene | TP53 | C0205641 | Adenocarcinoma, Basal Cell | 3 | CTD_human |
Hgene | TP53 | C0205642 | Adenocarcinoma, Oxyphilic | 3 | CTD_human |
Hgene | TP53 | C0205643 | Carcinoma, Cribriform | 3 | CTD_human |
Hgene | TP53 | C0205644 | Carcinoma, Granular Cell | 3 | CTD_human |
Hgene | TP53 | C0205645 | Adenocarcinoma, Tubular | 3 | CTD_human |
Hgene | TP53 | C0259783 | mixed gliomas | 3 | CTD_human |
Hgene | TP53 | C0555198 | Malignant Glioma | 3 | CTD_human |
Hgene | TP53 | C1368275 | Pigmented Basal Cell Carcinoma | 3 | CTD_human |
Hgene | TP53 | C4721806 | Carcinoma, Basal Cell | 3 | CTD_human |
Hgene | TP53 | C0001969 | Alcoholic Intoxication | 2 | PSYGENET |
Hgene | TP53 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
Hgene | TP53 | C0007097 | Carcinoma | 2 | CTD_human |
Hgene | TP53 | C0007137 | Squamous cell carcinoma | 2 | CTD_human |
Hgene | TP53 | C0014859 | Esophageal Neoplasms | 2 | CTD_human |
Hgene | TP53 | C0016978 | gallbladder neoplasm | 2 | CTD_human |
Hgene | TP53 | C0022593 | Keratosis | 2 | CTD_human |
Hgene | TP53 | C0022594 | Keratosis Blennorrhagica | 2 | CTD_human |
Hgene | TP53 | C0023903 | Liver neoplasms | 2 | CTD_human |
Hgene | TP53 | C0024623 | Malignant neoplasm of stomach | 2 | CTD_human |
Hgene | TP53 | C0036920 | Sezary Syndrome | 2 | CTD_human |
Hgene | TP53 | C0038356 | Stomach Neoplasms | 2 | CTD_human |
Hgene | TP53 | C0086501 | Keratoma | 2 | CTD_human |
Hgene | TP53 | C0153452 | Malignant neoplasm of gallbladder | 2 | CTD_human |
Hgene | TP53 | C0205696 | Anaplastic carcinoma | 2 | CTD_human |
Hgene | TP53 | C0205697 | Carcinoma, Spindle-Cell | 2 | CTD_human |
Hgene | TP53 | C0205698 | Undifferentiated carcinoma | 2 | CTD_human |
Hgene | TP53 | C0205699 | Carcinomatosis | 2 | CTD_human |
Hgene | TP53 | C0274861 | Arsenic Poisoning, Inorganic | 2 | CTD_human |
Hgene | TP53 | C0274862 | Nervous System, Organic Arsenic Poisoning | 2 | CTD_human |
Hgene | TP53 | C0311375 | Arsenic Poisoning | 2 | CTD_human |
Hgene | TP53 | C0345904 | Malignant neoplasm of liver | 2 | CTD_human |
Hgene | TP53 | C0546837 | Malignant neoplasm of esophagus | 2 | CTD_human |
Hgene | TP53 | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 2 | ORPHANET |
Hgene | TP53 | C0751851 | Arsenic Encephalopathy | 2 | CTD_human |
Hgene | TP53 | C0751852 | Arsenic Induced Polyneuropathy | 2 | CTD_human |
Hgene | TP53 | C1168401 | Squamous cell carcinoma of the head and neck | 2 | CTD_human |
Hgene | TP53 | C1261473 | Sarcoma | 2 | CGI;CTD_human;GENOMICS_ENGLAND |
Hgene | TP53 | C1708349 | Hereditary Diffuse Gastric Cancer | 2 | CTD_human |
Hgene | TP53 | C0001430 | Adenoma | 1 | CTD_human |
Hgene | TP53 | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
Hgene | TP53 | C0002152 | Alloxan Diabetes | 1 | CTD_human |
Hgene | TP53 | C0002736 | Amyotrophic Lateral Sclerosis | 1 | CTD_human |
Hgene | TP53 | C0004698 | Balkan Nephropathy | 1 | CTD_human |
Hgene | TP53 | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
Hgene | TP53 | C0006663 | Calcinosis | 1 | CTD_human |
Hgene | TP53 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
Hgene | TP53 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
Hgene | TP53 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human |
Hgene | TP53 | C0007273 | Carotid Artery Diseases | 1 | CTD_human |
Hgene | TP53 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | TP53 | C0007786 | Brain Ischemia | 1 | CTD_human |
Hgene | TP53 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | TP53 | C0011303 | Demyelinating Diseases | 1 | CTD_human |
Hgene | TP53 | C0011304 | Demyelination | 1 | CTD_human |
Hgene | TP53 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Hgene | TP53 | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
Hgene | TP53 | C0018923 | Hemangiosarcoma | 1 | CTD_human |
Hgene | TP53 | C0019207 | Hepatoma, Morris | 1 | CTD_human |
Hgene | TP53 | C0019208 | Hepatoma, Novikoff | 1 | CTD_human |
Hgene | TP53 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | TP53 | C0021361 | Female infertility | 1 | CTD_human |
Hgene | TP53 | C0021364 | Male infertility | 1 | CTD_human |
Hgene | TP53 | C0022116 | Ischemia | 1 | CTD_human |
Hgene | TP53 | C0022660 | Kidney Failure, Acute | 1 | CTD_human |
Hgene | TP53 | C0022783 | Vulvar Lichen Sclerosus | 1 | CTD_human |
Hgene | TP53 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | TP53 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | TP53 | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
Hgene | TP53 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Hgene | TP53 | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
Hgene | TP53 | C0024809 | Marijuana Abuse | 1 | PSYGENET |
Hgene | TP53 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Hgene | TP53 | C0027022 | Myeloproliferative disease | 1 | CTD_human |
Hgene | TP53 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | TP53 | C0027708 | Nephroblastoma | 1 | CTD_human |
Hgene | TP53 | C0030246 | Pustulosis of Palms and Soles | 1 | CTD_human |
Hgene | TP53 | C0030849 | Penile Neoplasms | 1 | CTD_human |
Hgene | TP53 | C0032578 | Polyploidy | 1 | CTD_human |
Hgene | TP53 | C0033860 | Psoriasis | 1 | CTD_human |
Hgene | TP53 | C0036341 | Schizophrenia | 1 | CTD_human |
Hgene | TP53 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Hgene | TP53 | C0038279 | Sterility, Postpartum | 1 | CTD_human |
Hgene | TP53 | C0038433 | Streptozotocin Diabetes | 1 | CTD_human |
Hgene | TP53 | C0040100 | Thymoma | 1 | CTD_human |
Hgene | TP53 | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
Hgene | TP53 | C0042065 | Genitourinary Neoplasms | 1 | CTD_human |
Hgene | TP53 | C0042076 | Urologic Neoplasms | 1 | CTD_human |
Hgene | TP53 | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
Hgene | TP53 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
Hgene | TP53 | C0085136 | Central Nervous System Neoplasms | 1 | CTD_human |
Hgene | TP53 | C0086404 | Experimental Hepatoma | 1 | CTD_human |
Hgene | TP53 | C0151468 | Thyroid Gland Follicular Adenoma | 1 | CTD_human |
Hgene | TP53 | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human |
Hgene | TP53 | C0153601 | Malignant neoplasm of penis | 1 | CTD_human |
Hgene | TP53 | C0205646 | Adenoma, Basal Cell | 1 | CTD_human |
Hgene | TP53 | C0205647 | Follicular adenoma | 1 | CTD_human |
Hgene | TP53 | C0205648 | Adenoma, Microcystic | 1 | CTD_human |
Hgene | TP53 | C0205649 | Adenoma, Monomorphic | 1 | CTD_human |
Hgene | TP53 | C0205650 | Papillary adenoma | 1 | CTD_human |
Hgene | TP53 | C0205651 | Adenoma, Trabecular | 1 | CTD_human |
Hgene | TP53 | C0205770 | Choroid Plexus Papilloma | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | TP53 | C0205944 | Sarcoma, Epithelioid | 1 | CTD_human |
Hgene | TP53 | C0205945 | Sarcoma, Spindle Cell | 1 | CTD_human |
Hgene | TP53 | C0205969 | Thymic Carcinoma | 1 | CGI;CTD_human |
Hgene | TP53 | C0206681 | Adenocarcinoma, Clear Cell | 1 | CTD_human |
Hgene | TP53 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
Hgene | TP53 | C0206726 | gliosarcoma | 1 | ORPHANET |
Hgene | TP53 | C0235874 | Disease Exacerbation | 1 | CTD_human |
Hgene | TP53 | C0262584 | Carcinoma, Small Cell | 1 | CTD_human |
Hgene | TP53 | C0263628 | Tumoral calcinosis | 1 | CTD_human |
Hgene | TP53 | C0263859 | Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome | 1 | CTD_human |
Hgene | TP53 | C0279607 | Adult Hepatocellular Carcinoma | 1 | ORPHANET |
Hgene | TP53 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | TP53 | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
Hgene | TP53 | C0334588 | Giant Cell Glioblastoma | 1 | ORPHANET |
Hgene | TP53 | C0341869 | Subfertility, Female | 1 | CTD_human |
Hgene | TP53 | C0345905 | Intrahepatic Cholangiocarcinoma | 1 | CTD_human |
Hgene | TP53 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Hgene | TP53 | C0376407 | Granulomatous Slack Skin | 1 | CTD_human |
Hgene | TP53 | C0393554 | Amyotrophic Lateral Sclerosis With Dementia | 1 | CTD_human |
Hgene | TP53 | C0428791 | Aortic valve calcification | 1 | CTD_human |
Hgene | TP53 | C0431109 | Choroid Plexus Carcinoma | 1 | ORPHANET |
Hgene | TP53 | C0521174 | Microcalcification | 1 | CTD_human |
Hgene | TP53 | C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | 1 | CTD_human |
Hgene | TP53 | C0549473 | Thyroid carcinoma | 1 | CGI;CTD_human |
Hgene | TP53 | C0577631 | Carotid Atherosclerosis | 1 | CTD_human |
Hgene | TP53 | C0600178 | External Carotid Artery Diseases | 1 | CTD_human |
Hgene | TP53 | C0750887 | Adrenal Cancer | 1 | CTD_human |
Hgene | TP53 | C0750986 | Internal Carotid Artery Diseases | 1 | CTD_human |
Hgene | TP53 | C0750987 | Arterial Diseases, Common Carotid | 1 | CTD_human |
Hgene | TP53 | C0751569 | Genitourinary Cancer | 1 | CTD_human |
Hgene | TP53 | C0751571 | Cancer of Urinary Tract | 1 | CTD_human |
Hgene | TP53 | C0751620 | Central Nervous System Neoplasms, Primary | 1 | CTD_human |
Hgene | TP53 | C0848676 | Subfertility, Male | 1 | CTD_human |
Hgene | TP53 | C0876994 | Cardiotoxicity | 1 | CTD_human |
Hgene | TP53 | C0917730 | Female sterility | 1 | CTD_human |
Hgene | TP53 | C0917731 | Male sterility | 1 | CTD_human |
Hgene | TP53 | C0917798 | Cerebral Ischemia | 1 | CTD_human |
Hgene | TP53 | C0919267 | ovarian neoplasm | 1 | CGI;CTD_human |
Hgene | TP53 | C1140680 | Malignant neoplasm of ovary | 1 | CGI;CTD_human |
Hgene | TP53 | C1176475 | Ductal Carcinoma | 1 | CTD_human |
Hgene | TP53 | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
Hgene | TP53 | C1527303 | Chronic Airflow Obstruction | 1 | CTD_human |
Hgene | TP53 | C1565662 | Acute Kidney Insufficiency | 1 | CTD_human |
Hgene | TP53 | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |
Hgene | TP53 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | TP53 | C2350037 | Clinically Isolated Syndrome, CNS Demyelinating | 1 | CTD_human |
Hgene | TP53 | C2609414 | Acute kidney injury | 1 | CTD_human |
Hgene | TP53 | C2713368 | Hematopoetic Myelodysplasia | 1 | CTD_human |
Hgene | TP53 | C2930471 | Bilateral Wilms Tumor | 1 | CTD_human |
Hgene | TP53 | C2930974 | Acute erythroleukemia | 1 | CTD_human |
Hgene | TP53 | C2930975 | Acute erythroleukemia - M6a subtype | 1 | CTD_human |
Hgene | TP53 | C2930976 | Acute myeloid leukemia FAB-M6 | 1 | CTD_human |
Hgene | TP53 | C2930977 | Acute erythroleukemia - M6b subtype | 1 | CTD_human |
Hgene | TP53 | C2931038 | Pancreatic carcinoma, familial | 1 | ORPHANET |
Hgene | TP53 | C2931713 | Chromosome 17 deletion | 1 | CTD_human |
Hgene | TP53 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | TP53 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |
Hgene | TP53 | C3683846 | Chromosome 17p Deletion Syndrome | 1 | CTD_human |
Hgene | TP53 | C3805278 | Extrahepatic Cholangiocarcinoma | 1 | CTD_human |
Hgene | TP53 | C4551472 | Hypertrophic obstructive cardiomyopathy | 1 | CTD_human |
Hgene | TP53 | C4721610 | Carcinoma, Ovarian Epithelial | 1 | CTD_human |
Tgene | C0005586 | Bipolar Disorder | 5 | PSYGENET | |
Tgene | C0525045 | Mood Disorders | 1 | PSYGENET |