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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:MDM2-CCNJL (FusionGDB2 ID:52081)

Fusion Gene Summary for MDM2-CCNJL

check button Fusion gene summary
Fusion gene informationFusion gene name: MDM2-CCNJL
Fusion gene ID: 52081
HgeneTgene
Gene symbol

MDM2

CCNJL

Gene ID

4193

79616

Gene nameMDM2 proto-oncogenecyclin J like
SynonymsACTFS|HDMX|LSKB|hdm2-
Cytomap

12q15

5q33.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase Mdm2MDM2 oncogene, E3 ubiquitin protein ligaseMDM2 proto-oncogene, E3 ubiquitin protein ligaseMdm2, p53 E3 ubiquitin protein ligase homologMdm2, transformed 3T3 cell double minute 2, p53 binding proteindouble minute 2, humcyclin-J-like protein
Modification date2020032920200313
UniProtAcc.

Q8IV13

Ensembl transtripts involved in fusion geneENST00000462284, ENST00000356290, 
ENST00000540827, ENST00000258149, 
ENST00000428863, ENST00000393412, 
ENST00000258148, ENST00000544561, 
ENST00000393410, ENST00000393413, 
ENST00000517852, ENST00000545204, 
ENST00000350057, ENST00000360430, 
ENST00000299252, ENST00000348801, 
ENST00000478070, ENST00000544125, 
ENST00000393977, ENST00000377503, 
ENST00000257536, ENST00000541762, 
ENST00000519673, ENST00000505287, 
Fusion gene scores* DoF score39 X 20 X 11=85803 X 3 X 2=18
# samples 473
** MAII scorelog2(47/8580*10)=-4.19024498582191
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MDM2 [Title/Abstract] AND CCNJL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMDM2(69230529)-CCNJL(159703419), # samples:1
Anticipated loss of major functional domain due to fusion event.MDM2-CCNJL seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
MDM2-CCNJL seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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
HgeneMDM2

GO:0000122

negative regulation of transcription by RNA polymerase II

9271120|17310983

HgeneMDM2

GO:0006511

ubiquitin-dependent protein catabolic process

11278372|15314173|16173922|17310983

HgeneMDM2

GO:0016567

protein ubiquitination

9450543|15878855|19656744|20153724

HgeneMDM2

GO:0031648

protein destabilization

9529249|10360174|15314173

HgeneMDM2

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

11278372

HgeneMDM2

GO:0034504

protein localization to nucleus

10360174

HgeneMDM2

GO:0042176

regulation of protein catabolic process

9153395

HgeneMDM2

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

9529249|10360174

HgeneMDM2

GO:0045184

establishment of protein localization

10360174

HgeneMDM2

GO:0045892

negative regulation of transcription, DNA-templated

9271120

HgeneMDM2

GO:0065003

protein-containing complex assembly

10608892|12915590

HgeneMDM2

GO:0071157

negative regulation of cell cycle arrest

9529249

HgeneMDM2

GO:0071480

cellular response to gamma radiation

16213212

HgeneMDM2

GO:0072717

cellular response to actinomycin D

15314173

HgeneMDM2

GO:1901797

negative regulation of signal transduction by p53 class mediator

16173922


check buttonFusion gene breakpoints across MDM2 (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 CCNJL (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-DX-A3LSMDM2chr12

69230529

+CCNJLchr5

159703419

-


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Fusion Gene ORF analysis for MDM2-CCNJL

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
Frame-shiftENST00000462284ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000462284ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000462284ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000462284ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000462284ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000462284ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
Frame-shiftENST00000356290ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000356290ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000356290ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000356290ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000356290ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000356290ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
Frame-shiftENST00000540827ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000540827ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000540827ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000540827ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000540827ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000540827ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
Frame-shiftENST00000258149ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258149ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258149ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258149ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258149ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258149ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000428863ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000428863ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000428863ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000428863ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000428863ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000428863ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000393412ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393412ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393412ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393412ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393412ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393412ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
Frame-shiftENST00000258148ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258148ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258148ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258148ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258148ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000258148ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000544561ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544561ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544561ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544561ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544561ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544561ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000393410ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393410ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393410ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393410ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393410ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393410ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000393413ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393413ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393413ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393413ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393413ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000393413ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000517852ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000517852ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000517852ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000517852ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000517852ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000517852ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000545204ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000545204ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000545204ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000545204ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000545204ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000545204ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
Frame-shiftENST00000350057ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000350057ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000350057ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000350057ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000350057ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000350057ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
Frame-shiftENST00000360430ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000360430ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000360430ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000360430ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000360430ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000360430ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
Frame-shiftENST00000299252ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000299252ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000299252ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000299252ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000299252ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
5CDS-intronENST00000299252ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000348801ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000348801ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000348801ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000348801ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000348801ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000348801ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000478070ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000478070ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000478070ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000478070ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000478070ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000478070ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-3CDSENST00000544125ENST00000393977MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544125ENST00000377503MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544125ENST00000257536MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544125ENST00000541762MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544125ENST00000519673MDM2chr12

69230529

+CCNJLchr5

159703419

-
intron-intronENST00000544125ENST00000505287MDM2chr12

69230529

+CCNJLchr5

159703419

-

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 MDM2-CCNJL


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 MDM2-CCNJL


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
.CCNJL

Q8IV13

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.

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 MDM2-CCNJL


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 MDM2-CCNJL


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 MDM2-CCNJL


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 MDM2-CCNJL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMDM2C0007131Non-Small Cell Lung Carcinoma2CTD_human
HgeneMDM2C0006142Malignant neoplasm of breast1CTD_human
HgeneMDM2C0007621Neoplastic Cell Transformation1CTD_human
HgeneMDM2C0019693HIV Infections1CTD_human
HgeneMDM2C0021364Male infertility1CTD_human
HgeneMDM2C0025202melanoma1CTD_human
HgeneMDM2C0032927Precancerous Conditions1CTD_human
HgeneMDM2C0033578Prostatic Neoplasms1CTD_human
HgeneMDM2C0085390Li-Fraumeni Syndrome1ORPHANET
HgeneMDM2C0263859Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome1CTD_human
HgeneMDM2C0282313Condition, Preneoplastic1CTD_human
HgeneMDM2C0376358Malignant neoplasm of prostate1CTD_human
HgeneMDM2C0678222Breast Carcinoma1CTD_human
HgeneMDM2C0848676Subfertility, Male1CTD_human
HgeneMDM2C0917731Male sterility1CTD_human
HgeneMDM2C1257931Mammary Neoplasms, Human1CTD_human
HgeneMDM2C1458155Mammary Neoplasms1CTD_human
HgeneMDM2C4505456HIV Coinfection1CTD_human
HgeneMDM2C4704874Mammary Carcinoma, Human1CTD_human