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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 |
|---|---|---|---|---|---|
| C1266042 | Chromophobe Renal Cell Carcinoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C1266042 | Chromophobe Renal Cell Carcinoma | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1266042 | Chromophobe Renal Cell Carcinoma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1266042 | Chromophobe Renal Cell Carcinoma | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C1266042 | Chromophobe Renal Cell Carcinoma | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1266042 | Chromophobe Renal Cell Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1266042 | Chromophobe Renal Cell Carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1266042 | Chromophobe Renal Cell Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1266042 | Chromophobe Renal Cell Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0008582 | Chromoblastomycosis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0162359 | Christ-Siemens-Touraine syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0162359 | Christ-Siemens-Touraine syndrome | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0162359 | Christ-Siemens-Touraine syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0162359 | Christ-Siemens-Touraine syndrome | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0162359 | Christ-Siemens-Touraine syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0162359 | Christ-Siemens-Touraine syndrome | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0008525 | Choroideremia | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0008525 | Choroideremia | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0205770 | Choroid Plexus Papilloma | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0205770 | Choroid Plexus Papilloma | CAT | 847 | catalase | P04040 |
| C0205770 | Choroid Plexus Papilloma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0085138 | Choroid Plexus Neoplasms | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0085138 | Choroid Plexus Neoplasms | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1859093 | Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0008497 | Choriocarcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
