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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:TP53-ELL (FusionGDB2 ID:92545)

Fusion Gene Summary for TP53-ELL

check button Fusion gene summary
Fusion gene informationFusion gene name: TP53-ELL
Fusion gene ID: 92545
HgeneTgene
Gene symbol

TP53

ELL

Gene ID

7157

8178

Gene nametumor protein p53elongation factor for RNA polymerase II
SynonymsBCC7|BMFS5|LFS1|P53|TRP53C19orf17|ELL1|MEN|PPP1R68
Cytomap

17p13.1

19p13.11

Type of geneprotein-codingprotein-coding
Descriptioncellular tumor antigen p53antigen NY-CO-13mutant tumor protein 53p53 tumor suppressorphosphoprotein p53transformation-related protein 53tumor protein 53tumor supressor p53RNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)ELL/KMT2A fusionELL/KMT2A fusion proteinKMT2A/ELL fusionKMT2A/ELL fusion proteineleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIprotein
Modification date2020032920200319
UniProtAcc.

O00472

Ensembl transtripts involved in fusion geneENST00000413465, ENST00000359597, 
ENST00000269305, ENST00000455263, 
ENST00000420246, ENST00000445888, 
ENST00000574684, 		ENST00000262809, 
ENST00000596124, 
Fusion gene scores* DoF score30 X 19 X 10=570011 X 17 X 7=1309
# samples 3721
** MAII scorelog2(37/5700*10)=-3.94536474342315
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/1309*10)=-2.64000386427912
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TP53 [Title/Abstract] AND ELL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTP53(7590695)-ELL(18561785), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTP53

GO:0000733

DNA strand renaturation

8183576

HgeneTP53

GO:0006355

regulation of transcription, DNA-templated

7587074

HgeneTP53

GO:0006974

cellular response to DNA damage stimulus

14744935|15710329|17938203

HgeneTP53

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

16213212

HgeneTP53

GO:0006983

ER overload response

14744935

HgeneTP53

GO:0007050

cell cycle arrest

15149599

HgeneTP53

GO:0008104

protein localization

16507995

HgeneTP53

GO:0008285

negative regulation of cell proliferation

22783376

HgeneTP53

GO:0010628

positive regulation of gene expression

15314173|20332243

HgeneTP53

GO:0030330

DNA damage response, signal transduction by p53 class mediator

15149599

HgeneTP53

GO:0031497

chromatin assembly

16322561

HgeneTP53

GO:0034644

cellular response to UV

16213212|23629966

HgeneTP53

GO:0036003

positive regulation of transcription from RNA polymerase II promoter in response to stress

30089260

HgeneTP53

GO:0042149

cellular response to glucose starvation

14744935|21471221

HgeneTP53

GO:0042771

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

14654789|14744935|17403783

HgeneTP53

GO:0042981

regulation of apoptotic process

14744935

HgeneTP53

GO:0043065

positive regulation of apoptotic process

12667443|15565177|20959462

HgeneTP53

GO:0045892

negative regulation of transcription, DNA-templated

24051492

HgeneTP53

GO:0045893

positive regulation of transcription, DNA-templated

16322561|17403783|18549481|20378837

HgeneTP53

GO:0045899

positive regulation of RNA polymerase II transcriptional preinitiation complex assembly

24289924

HgeneTP53

GO:0045944

positive regulation of transcription by RNA polymerase II

11672523|17145718|17310983|17599062|18549481|20959462|24652652

HgeneTP53

GO:0051123

RNA polymerase II preinitiation complex assembly

24289924

HgeneTP53

GO:0051974

negative regulation of telomerase activity

10597287

HgeneTP53

GO:0065003

protein-containing complex assembly

12915590

HgeneTP53

GO:0071158

positive regulation of cell cycle arrest

15314173

HgeneTP53

GO:0071480

cellular response to gamma radiation

16213212

HgeneTP53

GO:0072331

signal transduction by p53 class mediator

15314173

HgeneTP53

GO:0072717

cellular response to actinomycin D

15314173

HgeneTP53

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

HgeneTP53

GO:0097252

oligodendrocyte apoptotic process

7720704

HgeneTP53

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

20546595

HgeneTP53

GO:1903800

positive regulation of production of miRNAs involved in gene silencing by miRNA

26100857

HgeneTP53

GO:1990248

regulation of transcription from RNA polymerase II promoter in response to DNA damage

30089260

TgeneELL

GO:0010923

negative regulation of phosphatase activity

19389623


check buttonFusion gene breakpoints across TP53 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-K1-A6RU-01ATP53chr17

7590695

-ELLchr19

18561785

-


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Fusion Gene ORF analysis for TP53-ELL

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
intron-3CDSENST00000413465ENST00000262809TP53chr17

7590695

-ELLchr19

18561785

-
intron-3CDSENST00000413465ENST00000596124TP53chr17

7590695

-ELLchr19

18561785

-
intron-3CDSENST00000359597ENST00000262809TP53chr17

7590695

-ELLchr19

18561785

-
intron-3CDSENST00000359597ENST00000596124TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000269305ENST00000262809TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000269305ENST00000596124TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000455263ENST00000262809TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000455263ENST00000596124TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000420246ENST00000262809TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000420246ENST00000596124TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000445888ENST00000262809TP53chr17

7590695

-ELLchr19

18561785

-
5UTR-3CDSENST00000445888ENST00000596124TP53chr17

7590695

-ELLchr19

18561785

-
intron-3CDSENST00000574684ENST00000262809TP53chr17

7590695

-ELLchr19

18561785

-
intron-3CDSENST00000574684ENST00000596124TP53chr17

7590695

-ELLchr19

18561785

-

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 TP53-ELL


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for TP53-ELL


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ELL

O00472

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:23251033}.

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 TP53-ELL


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 TP53-ELL


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 TP53-ELL


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 TP53-ELL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTP53C0085390Li-Fraumeni Syndrome22CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTP53C0009402Colorectal Carcinoma8CTD_human;GENOMICS_ENGLAND
HgeneTP53C0009404Colorectal Neoplasms8CTD_human
HgeneTP53C0033578Prostatic Neoplasms8CTD_human
HgeneTP53C0376358Malignant neoplasm of prostate8CTD_human
HgeneTP53C0006142Malignant neoplasm of breast6CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTP53C0023434Chronic Lymphocytic Leukemia6CGI;CTD_human;ORPHANET
HgeneTP53C0678222Breast Carcinoma6CGI;CTD_human
HgeneTP53C1257931Mammary Neoplasms, Human6CTD_human
HgeneTP53C1458155Mammary Neoplasms6CTD_human
HgeneTP53C2239176Liver carcinoma6CGI;CTD_human;GENOMICS_ENGLAND
HgeneTP53C4704874Mammary Carcinoma, Human6CTD_human
HgeneTP53C0005684Malignant neoplasm of urinary bladder5CTD_human
HgeneTP53C0005695Bladder Neoplasm5CTD_human
HgeneTP53C0024121Lung Neoplasms5CGI;CTD_human
HgeneTP53C0206686Adrenocortical carcinoma5CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneTP53C0242379Malignant neoplasm of lung5CGI;CTD_human
HgeneTP53C0855095Small Lymphocytic Lymphoma5ORPHANET
HgeneTP53C1868683B-CELL MALIGNANCY, LOW-GRADE5ORPHANET
HgeneTP53C0007131Non-Small Cell Lung Carcinoma4CTD_human
HgeneTP53C0007134Renal Cell Carcinoma4CTD_human
HgeneTP53C0025202melanoma4CGI;CTD_human
HgeneTP53C0029463Osteosarcoma4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneTP53C0279702Conventional (Clear Cell) Renal Cell Carcinoma4CTD_human
HgeneTP53C1266042Chromophobe Renal Cell Carcinoma4CTD_human
HgeneTP53C1266043Sarcomatoid Renal Cell Carcinoma4CTD_human
HgeneTP53C1266044Collecting Duct Carcinoma of the Kidney4CTD_human
HgeneTP53C1306837Papillary Renal Cell Carcinoma4CTD_human
HgeneTP53C0001418Adenocarcinoma3CTD_human
HgeneTP53C0007102Malignant tumor of colon3CTD_human
HgeneTP53C0009375Colonic Neoplasms3CTD_human
HgeneTP53C0017638Glioma3CGI;CTD_human
HgeneTP53C0040028Thrombocythemia, Essential3ORPHANET
HgeneTP53C0149925Small cell carcinoma of lung3CTD_human;ORPHANET
HgeneTP53C0205641Adenocarcinoma, Basal Cell3CTD_human
HgeneTP53C0205642Adenocarcinoma, Oxyphilic3CTD_human
HgeneTP53C0205643Carcinoma, Cribriform3CTD_human
HgeneTP53C0205644Carcinoma, Granular Cell3CTD_human
HgeneTP53C0205645Adenocarcinoma, Tubular3CTD_human
HgeneTP53C0259783mixed gliomas3CTD_human
HgeneTP53C0555198Malignant Glioma3CTD_human
HgeneTP53C1368275Pigmented Basal Cell Carcinoma3CTD_human
HgeneTP53C4721806Carcinoma, Basal Cell3CTD_human
HgeneTP53C0001969Alcoholic Intoxication2PSYGENET
HgeneTP53C0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneTP53C0007097Carcinoma2CTD_human
HgeneTP53C0007137Squamous cell carcinoma2CTD_human
HgeneTP53C0014859Esophageal Neoplasms2CTD_human
HgeneTP53C0016978gallbladder neoplasm2CTD_human
HgeneTP53C0022593Keratosis2CTD_human
HgeneTP53C0022594Keratosis Blennorrhagica2CTD_human
HgeneTP53C0023903Liver neoplasms2CTD_human
HgeneTP53C0024623Malignant neoplasm of stomach2CTD_human
HgeneTP53C0036920Sezary Syndrome2CTD_human
HgeneTP53C0038356Stomach Neoplasms2CTD_human
HgeneTP53C0086501Keratoma2CTD_human
HgeneTP53C0153452Malignant neoplasm of gallbladder2CTD_human
HgeneTP53C0205696Anaplastic carcinoma2CTD_human
HgeneTP53C0205697Carcinoma, Spindle-Cell2CTD_human
HgeneTP53C0205698Undifferentiated carcinoma2CTD_human
HgeneTP53C0205699Carcinomatosis2CTD_human
HgeneTP53C0274861Arsenic Poisoning, Inorganic2CTD_human
HgeneTP53C0274862Nervous System, Organic Arsenic Poisoning2CTD_human
HgeneTP53C0311375Arsenic Poisoning2CTD_human
HgeneTP53C0345904Malignant neoplasm of liver2CTD_human
HgeneTP53C0546837Malignant neoplasm of esophagus2CTD_human
HgeneTP53C0677776Hereditary Breast and Ovarian Cancer Syndrome2ORPHANET
HgeneTP53C0751851Arsenic Encephalopathy2CTD_human
HgeneTP53C0751852Arsenic Induced Polyneuropathy2CTD_human
HgeneTP53C1168401Squamous cell carcinoma of the head and neck2CTD_human
HgeneTP53C1261473Sarcoma2CGI;CTD_human;GENOMICS_ENGLAND
HgeneTP53C1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgeneTP53C0001430Adenoma1CTD_human
HgeneTP53C0001624Adrenal Gland Neoplasms1CTD_human
HgeneTP53C0002152Alloxan Diabetes1CTD_human
HgeneTP53C0002736Amyotrophic Lateral Sclerosis1CTD_human
HgeneTP53C0004698Balkan Nephropathy1CTD_human
HgeneTP53C0006413Burkitt Lymphoma1ORPHANET
HgeneTP53C0006663Calcinosis1CTD_human
HgeneTP53C0007114Malignant neoplasm of skin1CTD_human
HgeneTP53C0007138Carcinoma, Transitional Cell1CTD_human
HgeneTP53C0007194Hypertrophic Cardiomyopathy1CTD_human
HgeneTP53C0007273Carotid Artery Diseases1CTD_human
HgeneTP53C0007621Neoplastic Cell Transformation1CTD_human
HgeneTP53C0007786Brain Ischemia1CTD_human
HgeneTP53C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneTP53C0011303Demyelinating Diseases1CTD_human
HgeneTP53C0011304Demyelination1CTD_human
HgeneTP53C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneTP53C0013990Pathological accumulation of air in tissues1CTD_human
HgeneTP53C0018923Hemangiosarcoma1CTD_human
HgeneTP53C0019207Hepatoma, Morris1CTD_human
HgeneTP53C0019208Hepatoma, Novikoff1CTD_human
HgeneTP53C0020538Hypertensive disease1CTD_human
HgeneTP53C0021361Female infertility1CTD_human
HgeneTP53C0021364Male infertility1CTD_human
HgeneTP53C0022116Ischemia1CTD_human
HgeneTP53C0022660Kidney Failure, Acute1CTD_human
HgeneTP53C0022783Vulvar Lichen Sclerosus1CTD_human
HgeneTP53C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneTP53C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneTP53C0023897Liver Diseases, Parasitic1CTD_human
HgeneTP53C0023904Liver Neoplasms, Experimental1CTD_human
HgeneTP53C0024117Chronic Obstructive Airway Disease1CTD_human
HgeneTP53C0024809Marijuana Abuse1PSYGENET
HgeneTP53C0026640Mouth Neoplasms1CTD_human
HgeneTP53C0027022Myeloproliferative disease1CTD_human
HgeneTP53C0027627Neoplasm Metastasis1CTD_human
HgeneTP53C0027708Nephroblastoma1CTD_human
HgeneTP53C0030246Pustulosis of Palms and Soles1CTD_human
HgeneTP53C0030849Penile Neoplasms1CTD_human
HgeneTP53C0032578Polyploidy1CTD_human
HgeneTP53C0033860Psoriasis1CTD_human
HgeneTP53C0036341Schizophrenia1CTD_human
HgeneTP53C0037286Skin Neoplasms1CTD_human
HgeneTP53C0038279Sterility, Postpartum1CTD_human
HgeneTP53C0038433Streptozotocin Diabetes1CTD_human
HgeneTP53C0040100Thymoma1CTD_human
HgeneTP53C0040136Thyroid Neoplasm1CTD_human
HgeneTP53C0042065Genitourinary Neoplasms1CTD_human
HgeneTP53C0042076Urologic Neoplasms1CTD_human
HgeneTP53C0079772T-Cell Lymphoma1CTD_human
HgeneTP53C0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneTP53C0085136Central Nervous System Neoplasms1CTD_human
HgeneTP53C0086404Experimental Hepatoma1CTD_human
HgeneTP53C0151468Thyroid Gland Follicular Adenoma1CTD_human
HgeneTP53C0153381Malignant neoplasm of mouth1CTD_human
HgeneTP53C0153601Malignant neoplasm of penis1CTD_human
HgeneTP53C0205646Adenoma, Basal Cell1CTD_human
HgeneTP53C0205647Follicular adenoma1CTD_human
HgeneTP53C0205648Adenoma, Microcystic1CTD_human
HgeneTP53C0205649Adenoma, Monomorphic1CTD_human
HgeneTP53C0205650Papillary adenoma1CTD_human
HgeneTP53C0205651Adenoma, Trabecular1CTD_human
HgeneTP53C0205770Choroid Plexus Papilloma1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneTP53C0205944Sarcoma, Epithelioid1CTD_human
HgeneTP53C0205945Sarcoma, Spindle Cell1CTD_human
HgeneTP53C0205969Thymic Carcinoma1CGI;CTD_human
HgeneTP53C0206681Adenocarcinoma, Clear Cell1CTD_human
HgeneTP53C0206698Cholangiocarcinoma1CTD_human
HgeneTP53C0206726gliosarcoma1ORPHANET
HgeneTP53C0235874Disease Exacerbation1CTD_human
HgeneTP53C0262584Carcinoma, Small Cell1CTD_human
HgeneTP53C0263628Tumoral calcinosis1CTD_human
HgeneTP53C0263859Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome1CTD_human
HgeneTP53C0279607Adult Hepatocellular Carcinoma1ORPHANET
HgeneTP53C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneTP53C0279628Adenocarcinoma Of Esophagus1CTD_human
HgeneTP53C0334588Giant Cell Glioblastoma1ORPHANET
HgeneTP53C0341869Subfertility, Female1CTD_human
HgeneTP53C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneTP53C0345967Malignant mesothelioma1CTD_human
HgeneTP53C0376407Granulomatous Slack Skin1CTD_human
HgeneTP53C0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
HgeneTP53C0428791Aortic valve calcification1CTD_human
HgeneTP53C0431109Choroid Plexus Carcinoma1ORPHANET
HgeneTP53C0521174Microcalcification1CTD_human
HgeneTP53C0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
HgeneTP53C0549473Thyroid carcinoma1CGI;CTD_human
HgeneTP53C0577631Carotid Atherosclerosis1CTD_human
HgeneTP53C0600178External Carotid Artery Diseases1CTD_human
HgeneTP53C0750887Adrenal Cancer1CTD_human
HgeneTP53C0750986Internal Carotid Artery Diseases1CTD_human
HgeneTP53C0750987Arterial Diseases, Common Carotid1CTD_human
HgeneTP53C0751569Genitourinary Cancer1CTD_human
HgeneTP53C0751571Cancer of Urinary Tract1CTD_human
HgeneTP53C0751620Central Nervous System Neoplasms, Primary1CTD_human
HgeneTP53C0848676Subfertility, Male1CTD_human
HgeneTP53C0876994Cardiotoxicity1CTD_human
HgeneTP53C0917730Female sterility1CTD_human
HgeneTP53C0917731Male sterility1CTD_human
HgeneTP53C0917798Cerebral Ischemia1CTD_human
HgeneTP53C0919267ovarian neoplasm1CGI;CTD_human
HgeneTP53C1140680Malignant neoplasm of ovary1CGI;CTD_human
HgeneTP53C1176475Ductal Carcinoma1CTD_human
HgeneTP53C1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
HgeneTP53C1527303Chronic Airflow Obstruction1CTD_human
HgeneTP53C1565662Acute Kidney Insufficiency1CTD_human
HgeneTP53C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
HgeneTP53C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneTP53C2350037Clinically Isolated Syndrome, CNS Demyelinating1CTD_human
HgeneTP53C2609414Acute kidney injury1CTD_human
HgeneTP53C2713368Hematopoetic Myelodysplasia1CTD_human
HgeneTP53C2930471Bilateral Wilms Tumor1CTD_human
HgeneTP53C2930974Acute erythroleukemia1CTD_human
HgeneTP53C2930975Acute erythroleukemia - M6a subtype1CTD_human
HgeneTP53C2930976Acute myeloid leukemia FAB-M61CTD_human
HgeneTP53C2930977Acute erythroleukemia - M6b subtype1CTD_human
HgeneTP53C2931038Pancreatic carcinoma, familial1ORPHANET
HgeneTP53C2931713Chromosome 17 deletion1CTD_human
HgeneTP53C2931822Nasopharyngeal carcinoma1CTD_human;GENOMICS_ENGLAND
HgeneTP53C3463824MYELODYSPLASTIC SYNDROME1CTD_human
HgeneTP53C3683846Chromosome 17p Deletion Syndrome1CTD_human
HgeneTP53C3805278Extrahepatic Cholangiocarcinoma1CTD_human
HgeneTP53C4551472Hypertrophic obstructive cardiomyopathy1CTD_human
HgeneTP53C4721610Carcinoma, Ovarian Epithelial1CTD_human