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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1510586 | Autism Spectrum Disorders | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1510586 | Autism Spectrum Disorders | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1510586 | Autism Spectrum Disorders | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1510586 | Autism Spectrum Disorders | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1510586 | Autism Spectrum Disorders | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1510586 | Autism Spectrum Disorders | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1510586 | Autism Spectrum Disorders | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1510586 | Autism Spectrum Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1510586 | Autism Spectrum Disorders | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1510586 | Autism Spectrum Disorders | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1510586 | Autism Spectrum Disorders | CNTN2 | 6900 | contactin 2 | Q02246 |
| C1510586 | Autism Spectrum Disorders | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1511934 | Differentiating Neuroblastoma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1512709 | Chronic Lymphoproliferative Disorder of NK-Cells | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C1514284 | Potassium Deficiency Disorder | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C1514422 | Glioblastoma, IDH-Wildtype | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1514422 | Glioblastoma, IDH-Wildtype | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1514422 | Glioblastoma, IDH-Wildtype | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1514422 | Glioblastoma, IDH-Wildtype | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C1514422 | Glioblastoma, IDH-Wildtype | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1514422 | Glioblastoma, IDH-Wildtype | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C1514422 | Glioblastoma, IDH-Wildtype | PFKFB4 | 5210 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | Q16877 |
