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Fusion Protein:AHI1-SGK1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: AHI1-SGK1 | FusionPDB ID: 3098 | FusionGDB2.0 ID: 3098 | Hgene | Tgene | Gene symbol | AHI1 | SGK1 | Gene ID | 54806 | 6446 |
Gene name | Abelson helper integration site 1 | serum/glucocorticoid regulated kinase 1 | |
Synonyms | AHI-1|JBTS3|ORF1|dJ71N10.1 | SGK | |
Cytomap | 6q23.3 | 6q23.2 | |
Type of gene | protein-coding | protein-coding | |
Description | jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains | serine/threonine-protein kinase Sgk1Sgk1 variant i3serine/threonine protein kinase SGK | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | Q8N157 | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000367800, ENST00000417892, ENST00000457866, ENST00000327035, ENST00000367798, ENST00000488690, ENST00000528103, ENST00000531527, ENST00000534469, | ENST00000237305, ENST00000367857, ENST00000413996, ENST00000475719, ENST00000489458, ENST00000524929, ENST00000528577, ENST00000367858, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 10 X 11 X 6=660 | 9 X 11 X 7=693 |
# samples | 10 | 14 | |
** MAII score | log2(10/660*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/693*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: AHI1 [Title/Abstract] AND SGK1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | AHI1(135679269)-SGK1(134528569), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | AHI1-SGK1 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. AHI1-SGK1 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. AHI1-SGK1 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. AHI1-SGK1 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. AHI1-SGK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a kinase 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * 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 | ESCA | TCGA-R6-A6DN | AHI1 | chr6 | 135679269 | - | SGK1 | chr6 | 134528569 | - |
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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) |
ENST00000457866 | AHI1 | chr6 | 135679269 | - | ENST00000367858 | SGK1 | chr6 | 134528569 | - | 5782 | 3464 | 299 | 4759 | 1486 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000457866 | ENST00000367858 | AHI1 | chr6 | 135679269 | - | SGK1 | chr6 | 134528569 | - | 0.000140355 | 0.9998596 |
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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 >3098_3098_1_AHI1-SGK1_AHI1_chr6_135679269_ENST00000457866_SGK1_chr6_134528569_ENST00000367858_length(amino acids)=1486AA_BP=3 MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI RSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVREPCNHANILTKPDPRTFWTNDDP AFMKQRRMGLNDFIQKIANNSYACKHPEVQSILKISQPQEPELMNANPSPPPSPSQQINLGPSSNPHAKPSDFHFLKVIGKGSFGKVLLA RHKAEEVFYAVKVLQKKAILKKKEEKHIMSERNVLLKNVKHPFLVGLHFSFQTADKLYFVLDYINGGELFYHLQRERCFLEPRARFYAAE IASALGYLHSLNIVYRDLKPENILLDSQGHIVLTDFGLCKENIEHNSTTSTFCGTPEYLAPEVLHKQPYDRTVDWWCLGAVLYEMLYGLP PFYSRNTAEMYDNILNKPLQLKPNITNSARHLLEGLLQKDRTKRLGAKDDFMEIKSHVFFSLINWDDLINKKITPPFNPNVSGPNDLRHF -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:135679269/chr6:134528569) - 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 |
AHI1 | . |
FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250|UniProtKB:Q8K3E5, ECO:0000269|PubMed:21623382}. | 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 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 13_45 | 1055.0 | 1197.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 13_45 | 1055.0 | 1197.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 234_239 | 1055.0 | 1197.0 | Compositional bias | Note=Poly-Lys |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 234_239 | 1055.0 | 1197.0 | Compositional bias | Note=Poly-Lys |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 607_649 | 1055.0 | 1197.0 | Repeat | Note=WD 1 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 652_691 | 1055.0 | 1197.0 | Repeat | Note=WD 2 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 695_735 | 1055.0 | 1197.0 | Repeat | Note=WD 3 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 742_781 | 1055.0 | 1197.0 | Repeat | Note=WD 4 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 797_837 | 1055.0 | 1197.0 | Repeat | Note=WD 5 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 841_880 | 1055.0 | 1197.0 | Repeat | Note=WD 6 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 885_926 | 1055.0 | 1197.0 | Repeat | Note=WD 7 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 607_649 | 1055.0 | 1197.0 | Repeat | Note=WD 1 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 652_691 | 1055.0 | 1197.0 | Repeat | Note=WD 2 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 695_735 | 1055.0 | 1197.0 | Repeat | Note=WD 3 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 742_781 | 1055.0 | 1197.0 | Repeat | Note=WD 4 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 797_837 | 1055.0 | 1197.0 | Repeat | Note=WD 5 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 841_880 | 1055.0 | 1197.0 | Repeat | Note=WD 6 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 885_926 | 1055.0 | 1197.0 | Repeat | Note=WD 7 |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000237305 | 0 | 12 | 131_141 | 0 | 432.0 | Compositional bias | Note=Glu/Lys-rich | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367857 | 0 | 11 | 131_141 | 0 | 422.0 | Compositional bias | Note=Glu/Lys-rich | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367858 | 1 | 14 | 131_141 | 95.0 | 527.0 | Compositional bias | Note=Glu/Lys-rich | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000413996 | 0 | 12 | 131_141 | 0 | 446.0 | Compositional bias | Note=Glu/Lys-rich | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000528577 | 0 | 12 | 131_141 | 0 | 460.0 | Compositional bias | Note=Glu/Lys-rich | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000237305 | 0 | 12 | 356_431 | 0 | 432.0 | Domain | AGC-kinase C-terminal | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000237305 | 0 | 12 | 98_355 | 0 | 432.0 | Domain | Protein kinase | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367857 | 0 | 11 | 356_431 | 0 | 422.0 | Domain | AGC-kinase C-terminal | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367857 | 0 | 11 | 98_355 | 0 | 422.0 | Domain | Protein kinase | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367858 | 1 | 14 | 356_431 | 95.0 | 527.0 | Domain | AGC-kinase C-terminal | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367858 | 1 | 14 | 98_355 | 95.0 | 527.0 | Domain | Protein kinase | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000413996 | 0 | 12 | 356_431 | 0 | 446.0 | Domain | AGC-kinase C-terminal | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000413996 | 0 | 12 | 98_355 | 0 | 446.0 | Domain | Protein kinase | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000528577 | 0 | 12 | 356_431 | 0 | 460.0 | Domain | AGC-kinase C-terminal | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000528577 | 0 | 12 | 98_355 | 0 | 460.0 | Domain | Protein kinase | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000237305 | 0 | 12 | 104_112 | 0 | 432.0 | Nucleotide binding | Note=ATP | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367857 | 0 | 11 | 104_112 | 0 | 422.0 | Nucleotide binding | Note=ATP | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367858 | 1 | 14 | 104_112 | 95.0 | 527.0 | Nucleotide binding | Note=ATP | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000413996 | 0 | 12 | 104_112 | 0 | 446.0 | Nucleotide binding | Note=ATP | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000528577 | 0 | 12 | 104_112 | 0 | 460.0 | Nucleotide binding | Note=ATP | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000237305 | 0 | 12 | 1_60 | 0 | 432.0 | Region | Note=Necessary for localization to the mitochondria | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367857 | 0 | 11 | 1_60 | 0 | 422.0 | Region | Note=Necessary for localization to the mitochondria | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000413996 | 0 | 12 | 1_60 | 0 | 446.0 | Region | Note=Necessary for localization to the mitochondria | |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000528577 | 0 | 12 | 1_60 | 0 | 460.0 | Region | Note=Necessary for localization to the mitochondria |
- 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 | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 13_45 | 0 | 1054.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 234_239 | 0 | 1054.0 | Compositional bias | Note=Poly-Lys |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 1051_1111 | 0 | 1054.0 | Domain | SH3 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000367800 | - | 22 | 27 | 1051_1111 | 1055.0 | 1197.0 | Domain | SH3 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000457866 | - | 23 | 28 | 1051_1111 | 1055.0 | 1197.0 | Domain | SH3 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 607_649 | 0 | 1054.0 | Repeat | Note=WD 1 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 652_691 | 0 | 1054.0 | Repeat | Note=WD 2 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 695_735 | 0 | 1054.0 | Repeat | Note=WD 3 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 742_781 | 0 | 1054.0 | Repeat | Note=WD 4 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 797_837 | 0 | 1054.0 | Repeat | Note=WD 5 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 841_880 | 0 | 1054.0 | Repeat | Note=WD 6 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 885_926 | 0 | 1054.0 | Repeat | Note=WD 7 |
Tgene | SGK1 | chr6:135679269 | chr6:134528569 | ENST00000367858 | 1 | 14 | 1_60 | 95.0 | 527.0 | Region | Note=Necessary for localization to the mitochondria |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
AHI1 | |
SGK1 |
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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 |
Hgene | AHI1 | chr6:135679269 | chr6:134528569 | ENST00000327035 | - | 1 | 23 | 141_434 | 0 | 1054.0 | HAP1 |
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Related Drugs to AHI1-SGK1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to AHI1-SGK1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |