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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 |
|---|---|---|---|---|---|
| C0243026 | Sepsis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0243026 | Sepsis | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0243026 | Sepsis | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0243026 | Sepsis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0243026 | Sepsis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0243026 | Sepsis | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0243026 | Sepsis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0243026 | Sepsis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0243026 | Sepsis | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0243026 | Sepsis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0243026 | Sepsis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0243026 | Sepsis | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0243026 | Sepsis | ACOD1 | 730249 | aconitate decarboxylase 1 | A6NK06 |
| C0243026 | Sepsis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0151313 | Sensory neuropathy | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0151313 | Sensory neuropathy | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0151313 | Sensory neuropathy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0151313 | Sensory neuropathy | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0151313 | Sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0151313 | Sensory neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1691779 | Sensory hearing loss | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0452138 | Sensorineural hearing loss, bilateral | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0452138 | Sensorineural hearing loss, bilateral | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
