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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CD9 |
Gene summary |
| Gene information | Gene symbol | CD9 | Gene ID | 928 |
| Gene name | CD9 molecule | |
| Synonyms | BTCC-1|DRAP-27|MIC3|MRP-1|TSPAN-29|TSPAN29 | |
| Cytomap | 12p13.31 | |
| Type of gene | protein-coding | |
| Description | CD9 antigen5H9 antigenBA-2/p24 antigenCD9 antigen (p24)antigen CD9cell growth-inhibiting gene 2 proteinleukocyte antigen MIC3motility related protein-1tetraspanin-29 | |
| Modification date | 20180523 | |
| UniProtAcc | P21926 | |
| Context | PubMed: CD9 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CD9 | GO:0007155 | cell adhesion | 7511626 |
| CD9 | GO:0007342 | fusion of sperm to egg plasma membrane involved in single fertilization | 14575715 |
| CD9 | GO:0051271 | negative regulation of cellular component movement | 8478605 |
| CD9 | GO:0090331 | negative regulation of platelet aggregation | 18541721 |
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Exon skipping events across known transcript of Ensembl for CD9 from UCSC genome browser |
Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for CD9 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CD9 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79297 | 12 | 6309040:6309238:6309549:6309731:6334591:6334700 | 6309549:6309731 | ENSG00000010278.7 | ENST00000536586.1 |
| exon_skip_79305 | 12 | 6309614:6309731:6315124:6315250:6334591:6334700 | 6315124:6315250 | ENSG00000010278.7 | ENST00000538834.1 |
| exon_skip_79309 | 12 | 6309614:6309731:6334591:6334700:6341797:6341895 | 6334591:6334700 | ENSG00000010278.7 | ENST00000546073.1,ENST00000382519.4,ENST00000536586.1,ENST00000009180.4,ENST00000382518.1 |
| exon_skip_79311 | 12 | 6341883:6341895:6342102:6342171:6342577:6342652 | 6342102:6342171 | ENSG00000010278.7 | ENST00000382519.4 |
| exon_skip_79314 | 12 | 6341797:6341895:6342577:6342652:6344394:6344471 | 6342577:6342652 | ENSG00000010278.7 | ENST00000540891.1,ENST00000382515.2,ENST00000481267.1,ENST00000536586.1,ENST00000009180.4,ENST00000382518.1 |
| exon_skip_79315 | 12 | 6342577:6342652:6344394:6344493:6344641:6344731 | 6344394:6344493 | ENSG00000010278.7 | ENST00000540891.1,ENST00000382515.2,ENST00000481267.1,ENST00000382519.4,ENST00000009180.4,ENST00000382518.1 |
| exon_skip_79318 | 12 | 6344394:6344493:6344641:6344731:6345357:6345428 | 6344641:6344731 | ENSG00000010278.7 | ENST00000540891.1,ENST00000382515.2,ENST00000481267.1,ENST00000382519.4,ENST00000009180.4,ENST00000382518.1 |
| exon_skip_79332 | 12 | 6344641:6344731:6345357:6345441:6346928:6347425 | 6345357:6345441 | ENSG00000010278.7 | ENST00000382515.2,ENST00000481267.1,ENST00000009180.4,ENST00000382518.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CD9 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79297 | 12 | 6309040:6309238:6309549:6309731:6334591:6334700 | 6309549:6309731 | ENSG00000010278.7 | ENST00000536586.1 |
| exon_skip_79305 | 12 | 6309614:6309731:6315124:6315250:6334591:6334700 | 6315124:6315250 | ENSG00000010278.7 | ENST00000538834.1 |
| exon_skip_79309 | 12 | 6309614:6309731:6334591:6334700:6341797:6341895 | 6334591:6334700 | ENSG00000010278.7 | ENST00000382518.1,ENST00000536586.1,ENST00000382519.4,ENST00000546073.1,ENST00000009180.4 |
| exon_skip_79311 | 12 | 6341883:6341895:6342102:6342171:6342577:6342652 | 6342102:6342171 | ENSG00000010278.7 | ENST00000382519.4 |
| exon_skip_79314 | 12 | 6341797:6341895:6342577:6342652:6344394:6344471 | 6342577:6342652 | ENSG00000010278.7 | ENST00000382518.1,ENST00000536586.1,ENST00000009180.4,ENST00000382515.2,ENST00000481267.1,ENST00000540891.1 |
| exon_skip_79315 | 12 | 6342577:6342652:6344394:6344493:6344641:6344731 | 6344394:6344493 | ENSG00000010278.7 | ENST00000382518.1,ENST00000382519.4,ENST00000009180.4,ENST00000382515.2,ENST00000481267.1,ENST00000540891.1 |
| exon_skip_79318 | 12 | 6344394:6344493:6344641:6344731:6345357:6345428 | 6344641:6344731 | ENSG00000010278.7 | ENST00000382518.1,ENST00000382519.4,ENST00000009180.4,ENST00000382515.2,ENST00000481267.1,ENST00000540891.1 |
| exon_skip_79332 | 12 | 6344641:6344731:6345357:6345441:6346928:6347425 | 6345357:6345441 | ENSG00000010278.7 | ENST00000382518.1,ENST00000009180.4,ENST00000382515.2,ENST00000481267.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CD9 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000009180 | 6334591 | 6334700 | Frame-shift |
| ENST00000382518 | 6334591 | 6334700 | Frame-shift |
| ENST00000009180 | 6342577 | 6342652 | In-frame |
| ENST00000382518 | 6342577 | 6342652 | In-frame |
| ENST00000009180 | 6344394 | 6344493 | In-frame |
| ENST00000382518 | 6344394 | 6344493 | In-frame |
| ENST00000009180 | 6344641 | 6344731 | In-frame |
| ENST00000382518 | 6344641 | 6344731 | In-frame |
| ENST00000009180 | 6345357 | 6345441 | In-frame |
| ENST00000382518 | 6345357 | 6345441 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000009180 | 6334591 | 6334700 | Frame-shift |
| ENST00000382518 | 6334591 | 6334700 | Frame-shift |
| ENST00000009180 | 6342577 | 6342652 | In-frame |
| ENST00000382518 | 6342577 | 6342652 | In-frame |
| ENST00000009180 | 6344394 | 6344493 | In-frame |
| ENST00000382518 | 6344394 | 6344493 | In-frame |
| ENST00000009180 | 6344641 | 6344731 | In-frame |
| ENST00000382518 | 6344641 | 6344731 | In-frame |
| ENST00000009180 | 6345357 | 6345441 | In-frame |
| ENST00000382518 | 6345357 | 6345441 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CD9 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000009180 | 1186 | 228 | 6342577 | 6342652 | 325 | 399 | 91 | 116 |
| ENST00000382518 | 1571 | 228 | 6342577 | 6342652 | 710 | 784 | 91 | 116 |
| ENST00000009180 | 1186 | 228 | 6344394 | 6344493 | 400 | 498 | 116 | 149 |
| ENST00000382518 | 1571 | 228 | 6344394 | 6344493 | 785 | 883 | 116 | 149 |
| ENST00000009180 | 1186 | 228 | 6344641 | 6344731 | 499 | 588 | 149 | 179 |
| ENST00000382518 | 1571 | 228 | 6344641 | 6344731 | 884 | 973 | 149 | 179 |
| ENST00000009180 | 1186 | 228 | 6345357 | 6345441 | 589 | 672 | 179 | 207 |
| ENST00000382518 | 1571 | 228 | 6345357 | 6345441 | 974 | 1057 | 179 | 207 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000009180 | 1186 | 228 | 6342577 | 6342652 | 325 | 399 | 91 | 116 |
| ENST00000382518 | 1571 | 228 | 6342577 | 6342652 | 710 | 784 | 91 | 116 |
| ENST00000009180 | 1186 | 228 | 6344394 | 6344493 | 400 | 498 | 116 | 149 |
| ENST00000382518 | 1571 | 228 | 6344394 | 6344493 | 785 | 883 | 116 | 149 |
| ENST00000009180 | 1186 | 228 | 6344641 | 6344731 | 499 | 588 | 149 | 179 |
| ENST00000382518 | 1571 | 228 | 6344641 | 6344731 | 884 | 973 | 149 | 179 |
| ENST00000009180 | 1186 | 228 | 6345357 | 6345441 | 589 | 672 | 179 | 207 |
| ENST00000382518 | 1571 | 228 | 6345357 | 6345441 | 974 | 1057 | 179 | 207 |
Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P21926 | 91 | 116 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 91 | 116 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 91 | 116 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 91 | 116 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 91 | 116 | 88 | 111 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 91 | 116 | 88 | 111 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 116 | 149 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 116 | 149 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 116 | 149 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 116 | 149 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 149 | 179 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 149 | 179 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 149 | 179 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 153 | 167 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 153 | 167 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 149 | 179 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 179 | 207 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 179 | 207 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 179 | 207 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 179 | 207 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 196 | 221 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 196 | 221 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P21926 | 91 | 116 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 91 | 116 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 91 | 116 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 91 | 116 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 91 | 116 | 88 | 111 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 91 | 116 | 88 | 111 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 116 | 149 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 116 | 149 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 116 | 149 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 116 | 149 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 149 | 179 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 149 | 179 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 149 | 179 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 153 | 167 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 153 | 167 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 149 | 179 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 149 | 179 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 179 | 207 | 2 | 228 | Chain | ID=PRO_0000219205;Note=CD9 antigen |
| P21926 | 179 | 207 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 179 | 207 | 152 | 181 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25551757;Dbxref=PMID:25551757 |
| P21926 | 179 | 207 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 112 | 195 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 196 | 221 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21926 | 179 | 207 | 196 | 221 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CD9 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LUAD | TCGA-55-7913-01 | exon_skip_79315 | 6344395 | 6344493 | 6344399 | 6344399 | Frame_Shift_Del | T | - | p.I118fs |
| LUAD | TCGA-64-1681-01 | exon_skip_79315 | 6344395 | 6344493 | 6344416 | 6344416 | Frame_Shift_Del | T | - | p.F124fs |
| ESCA | TCGA-LN-A5U6-01 | exon_skip_79297 | 6309550 | 6309731 | 6309666 | 6309667 | Frame_Shift_Ins | - | T | p.M1fs |
| KIRP | TCGA-HE-A5NJ-01 | exon_skip_79297 | 6309550 | 6309731 | 6309731 | 6309731 | Nonsense_Mutation | G | A | p.W22X |
| BLCA | TCGA-FD-A62P-01 | exon_skip_79318 | 6344642 | 6344731 | 6344685 | 6344685 | Nonsense_Mutation | C | G | p.S164* |
- Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6344642 | 6344731 | 6344663 | 6344663 | Frame_Shift_Del | G | - | p.G158fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 6309550 | 6309731 | 6309685 | 6309685 | Missense_Mutation | C | G | p.T7S |
| HT115_LARGE_INTESTINE | 6309550 | 6309731 | 6309700 | 6309700 | Missense_Mutation | A | G | p.Y12C |
| NCIH358_LUNG | 6309550 | 6309731 | 6309723 | 6309723 | Missense_Mutation | A | G | p.I20V |
| JHUEM7_ENDOMETRIUM | 6334592 | 6334700 | 6334596 | 6334596 | Missense_Mutation | C | T | p.A24V |
| KM12_LARGE_INTESTINE | 6342578 | 6342652 | 6342605 | 6342605 | Missense_Mutation | G | A | p.A101T |
| NCIBL2171_MATCHED_NORMAL_TISSUE | 6342578 | 6342652 | 6342633 | 6342633 | Missense_Mutation | G | T | p.G110V |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6344395 | 6344493 | 6344416 | 6344416 | Missense_Mutation | T | G | p.F124V |
| UMUC3_URINARY_TRACT | 6344395 | 6344493 | 6344467 | 6344467 | Missense_Mutation | G | A | p.E141K |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6345358 | 6345441 | 6345427 | 6345427 | Missense_Mutation | A | G | p.I203V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CD9 |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD9 |
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RelatedDrugs for CD9 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CD9 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CD9 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| CD9 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| CD9 | C0017636 | Glioblastoma | 1 | CTD_human |
| CD9 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| CD9 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| CD9 | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
| CD9 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| CD9 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |