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Fusion Protein:DAB2IP-TGM2 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: DAB2IP-TGM2 | FusionPDB ID: 21238 | FusionGDB2.0 ID: 21238 | Hgene | Tgene | Gene symbol | DAB2IP | TGM2 | Gene ID | 153090 | 7052 |
Gene name | DAB2 interacting protein | transglutaminase 2 | |
Synonyms | AF9Q34|AIP-1|AIP1|DIP1/2 | TG(C)|TGC | |
Cytomap | 9q33.2 | 20q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | disabled homolog 2-interacting proteinASK-interacting protein 1ASK1-interacting protein 1DAB2 interaction proteinDOC-2/DAB2 interactive proteinnGAP-like protein | protein-glutamine gamma-glutamyltransferase 2C polypeptide, protein-glutamine-gamma-glutamyltransferaseTGase CTGase HTGase-2tissue transglutaminasetransglutaminase Ctransglutaminase H | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | Q5VWQ8 | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000408936, ENST00000259371, ENST00000309989, ENST00000487716, | ENST00000361475, ENST00000536701, ENST00000536724, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 12 X 10 X 8=960 | 9 X 11 X 5=495 |
# samples | 12 | 11 | |
** MAII score | log2(12/960*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/495*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: DAB2IP [Title/Abstract] AND TGM2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | DAB2IP(124414178)-TGM2(36760902), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | DAB2IP-TGM2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DAB2IP-TGM2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 | DAB2IP | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15310755 |
Hgene | DAB2IP | GO:0000185 | activation of MAPKKK activity | 19903888 |
Hgene | DAB2IP | GO:0007257 | activation of JUN kinase activity | 12813029 |
Hgene | DAB2IP | GO:0008285 | negative regulation of cell proliferation | 19903888 |
Hgene | DAB2IP | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 20154697 |
Hgene | DAB2IP | GO:0014067 | negative regulation of phosphatidylinositol 3-kinase signaling | 19903888 |
Hgene | DAB2IP | GO:0016525 | negative regulation of angiogenesis | 19033661 |
Hgene | DAB2IP | GO:0031334 | positive regulation of protein complex assembly | 18281285 |
Hgene | DAB2IP | GO:0034144 | negative regulation of toll-like receptor 4 signaling pathway | 19948740 |
Hgene | DAB2IP | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 19033661 |
Hgene | DAB2IP | GO:0043065 | positive regulation of apoptotic process | 17389591|19903888 |
Hgene | DAB2IP | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 15310755|17389591 |
Hgene | DAB2IP | GO:0043254 | regulation of protein complex assembly | 19948740 |
Hgene | DAB2IP | GO:0043407 | negative regulation of MAP kinase activity | 12813029 |
Hgene | DAB2IP | GO:0043410 | positive regulation of MAPK cascade | 19903888 |
Hgene | DAB2IP | GO:0043507 | positive regulation of JUN kinase activity | 15310755 |
Hgene | DAB2IP | GO:0043553 | negative regulation of phosphatidylinositol 3-kinase activity | 19903888 |
Hgene | DAB2IP | GO:0044257 | cellular protein catabolic process | 17389591 |
Hgene | DAB2IP | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15310755|17389591 |
Hgene | DAB2IP | GO:0046330 | positive regulation of JNK cascade | 17389591|19903888 |
Hgene | DAB2IP | GO:0070317 | negative regulation of G0 to G1 transition | 19903888 |
Hgene | DAB2IP | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 19903888 |
Hgene | DAB2IP | GO:0071158 | positive regulation of cell cycle arrest | 19903888 |
Hgene | DAB2IP | GO:0071222 | cellular response to lipopolysaccharide | 19948740 |
Hgene | DAB2IP | GO:0071347 | cellular response to interleukin-1 | 19948740 |
Hgene | DAB2IP | GO:0071356 | cellular response to tumor necrosis factor | 12813029|15310755|17389591 |
Hgene | DAB2IP | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 19903888 |
Hgene | DAB2IP | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 19903888 |
Hgene | DAB2IP | GO:1903363 | negative regulation of cellular protein catabolic process | 19903888 |
Hgene | DAB2IP | GO:2001235 | positive regulation of apoptotic signaling pathway | 19903888 |
Tgene | TGM2 | GO:0018149 | peptide cross-linking | 30458214 |
Tgene | TGM2 | GO:0043277 | apoptotic cell clearance | 19628791 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 | STAD | TCGA-D7-5577-01A | DAB2IP | chr9 | 124414178 | + | TGM2 | chr20 | 36760902 | - |
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Fusion ORF Analysis |
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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) |
ENST00000408936 | DAB2IP | chr9 | 124414178 | + | ENST00000361475 | TGM2 | chr20 | 36760902 | - | 2513 | 306 | 1084 | 2 | 361 |
ENST00000408936 | DAB2IP | chr9 | 124414178 | + | ENST00000536701 | TGM2 | chr20 | 36760902 | - | 1019 | 306 | 910 | 2 | 303 |
ENST00000408936 | DAB2IP | chr9 | 124414178 | + | ENST00000536724 | TGM2 | chr20 | 36760902 | - | 840 | 306 | 589 | 2 | 196 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000408936 | ENST00000361475 | DAB2IP | chr9 | 124414178 | + | TGM2 | chr20 | 36760902 | - | 0.02036783 | 0.9796322 |
ENST00000408936 | ENST00000536701 | DAB2IP | chr9 | 124414178 | + | TGM2 | chr20 | 36760902 | - | 0.023570485 | 0.97642946 |
ENST00000408936 | ENST00000536724 | DAB2IP | chr9 | 124414178 | + | TGM2 | chr20 | 36760902 | - | 0.012006791 | 0.98799324 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >21238_21238_1_DAB2IP-TGM2_DAB2IP_chr9_124414178_ENST00000408936_TGM2_chr20_36760902_ENST00000361475_length(amino acids)=361AA_BP=0 MVGGQWLSKGHLGRRGNVGLSSLTPAPVSQGQGSHCFWHRAFLTAKGVSGDPQAQEAEMGQGHIPFPRAPIGCPPCPGVWGPRRGIFCSL AWDKDWDQGGGSQQAGSRGPLGGANDDIPEALHSLQLVALEVHHQLVEAHVERQQVHSHLNFLPCLHGVWDLHRLLLLSQAGPLHSEGAA FQGHRERVLQGHLSHQLAFLLGLPKDPDLDFWILQVEVPLSQQVAVDNWLHEEGPHLDEVGLRKAVTVFLIEDAKRNALLPGRPGPAAGA APLSLQPGPPQQPVVVGGPPGALPGAAARGHAAARRAPGRAWARSHGPHRPLRTARRAPTRSPALARAAAEALAAPQSRSNSSSASCPLP -------------------------------------------------------------- >21238_21238_2_DAB2IP-TGM2_DAB2IP_chr9_124414178_ENST00000408936_TGM2_chr20_36760902_ENST00000536701_length(amino acids)=303AA_BP=0 MGQGHIPFPRAPIGCPPCPGVWGPRRGIFCSLAWDKDWDQGGGSQQAGSRGPLGGANDDIPEALHSLQLVALEVHHQLVEAHVERQQVHS HLNFLPCLHGVWDLHRLLLLSQAGPLHSEGAAFQGHRERVLQGHLSHQLAFLLGLPKDPDLDFWILQVEVPLSQQVAVDNWLHEEGPHLD EVGLRKAVTVFLIEDAKRNALLPGRPGPAAGAAPLSLQPGPPQQPVVVGGPPGALPGAAARGHAAARRAPGRAWARSHGPHRPLRTARRA -------------------------------------------------------------- >21238_21238_3_DAB2IP-TGM2_DAB2IP_chr9_124414178_ENST00000408936_TGM2_chr20_36760902_ENST00000536724_length(amino acids)=196AA_BP=1 MLLSQAGPLHSEGAAFQGHRERVLQGHLSHQLAFLLGLPKDPDLDFWILQVEVPLSQQVAVDNWLHEEGPHLDEVGLRKAVTVFLIEDAK RNALLPGRPGPAAGAAPLSLQPGPPQQPVVVGGPPGALPGAAARGHAAARRAPGRAWARSHGPHRPLRTARRAPTRSPALARAAAEALAA -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:124414178/chr20:36760902) - 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 |
DAB2IP | . |
FUNCTION: Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to proinflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process. Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival downstream signaling cascades, respectively. {ECO:0000269|PubMed:12813029, ECO:0000269|PubMed:17389591, ECO:0000269|PubMed:18292600, ECO:0000269|PubMed:19033661, ECO:0000269|PubMed:19903888, ECO:0000269|PubMed:19948740, ECO:0000269|PubMed:20080667, ECO:0000269|PubMed:20154697, ECO:0000269|PubMed:21700930, ECO:0000269|PubMed:22696229}. | 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. |
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- 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 |
Tgene | TGM2 | chr9:124414178 | chr20:36760902 | ENST00000361475 | 9 | 13 | 580_583 | 538.3333333333334 | 688.0 | Nucleotide binding | GTP |
- 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 |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 1026_1159 | 0 | 1133.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 1026_1159 | 0 | 1066.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 1026_1159 | 41.333333333333336 | 1190.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 112_117 | 0 | 1133.0 | Compositional bias | Note=Poly-Ala |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 867_870 | 0 | 1133.0 | Compositional bias | Note=Poly-Ala |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 8_52 | 0 | 1133.0 | Compositional bias | Note=Arg-rich |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 903_948 | 0 | 1133.0 | Compositional bias | Note=Pro-rich |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 112_117 | 0 | 1066.0 | Compositional bias | Note=Poly-Ala |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 867_870 | 0 | 1066.0 | Compositional bias | Note=Poly-Ala |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 8_52 | 0 | 1066.0 | Compositional bias | Note=Arg-rich |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 903_948 | 0 | 1066.0 | Compositional bias | Note=Pro-rich |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 112_117 | 41.333333333333336 | 1190.0 | Compositional bias | Note=Poly-Ala |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 867_870 | 41.333333333333336 | 1190.0 | Compositional bias | Note=Poly-Ala |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 8_52 | 41.333333333333336 | 1190.0 | Compositional bias | Note=Arg-rich |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 903_948 | 41.333333333333336 | 1190.0 | Compositional bias | Note=Pro-rich |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 101_202 | 0 | 1133.0 | Domain | PH |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 193_311 | 0 | 1133.0 | Domain | C2 |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000259371 | + | 1 | 17 | 371_563 | 0 | 1133.0 | Domain | Ras-GAP |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 101_202 | 0 | 1066.0 | Domain | PH |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 193_311 | 0 | 1066.0 | Domain | C2 |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000309989 | + | 1 | 14 | 371_563 | 0 | 1066.0 | Domain | Ras-GAP |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 101_202 | 41.333333333333336 | 1190.0 | Domain | PH |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 193_311 | 41.333333333333336 | 1190.0 | Domain | C2 |
Hgene | DAB2IP | chr9:124414178 | chr20:36760902 | ENST00000408936 | + | 1 | 16 | 371_563 | 41.333333333333336 | 1190.0 | Domain | Ras-GAP |
Tgene | TGM2 | chr9:124414178 | chr20:36760902 | ENST00000361475 | 9 | 13 | 476_483 | 538.3333333333334 | 688.0 | Nucleotide binding | GTP |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
DAB2IP | DAB2, TP53, TP63, TP73, YWHAQ, TRAF2, RIPK1, MAP3K5, TNFRSF1A, TRADD, PIK3R1, AKT1, HRAS, CUL1, CUL4A, SKP1, RBX1, FBXW7, RFPL3, NTRK1, XPO1, EXOSC9, RAB4B, IWS1, UGGT1, RNASEH2B, Cdk1, Shoc2, Mis12, Cep152, CDH1, CTDSPL, ANKS1A, CLIP1, MCC, CD83, CGN, TMEM206, SNX17, CBY1, TRIM25, NRAS, KIAA1429, E6, YWHAE, nsp16, C11orf52, KRAS, LYN, OCLN, RAB35, RHOB, SMARCA2, CLEC4A, TMEM9, RASAL2, ANKS1B, EFNB1, YWHAB, YWHAG, YWHAH, SLC31A1, ASXL2, DDX3Y, |
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Gene | STRING network |
DAB2IP | ![]() |
TGM2 |
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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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Related Drugs to DAB2IP-TGM2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to DAB2IP-TGM2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DAB2IP | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | DAB2IP | C0027051 | Myocardial Infarction | 1 | CTD_human |
Hgene | DAB2IP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | DAB2IP | C0034065 | Pulmonary Embolism | 1 | CTD_human |
Hgene | DAB2IP | C0085096 | Peripheral Vascular Diseases | 1 | CTD_human |
Hgene | DAB2IP | C0162871 | Aortic Aneurysm, Abdominal | 1 | CTD_human |
Hgene | DAB2IP | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | DAB2IP | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | DAB2IP | C0524702 | Pulmonary Thromboembolisms | 1 | CTD_human |