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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 |
|---|---|---|---|---|---|
| C0270549 | Generalized Anxiety Disorder | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0270549 | Generalized Anxiety Disorder | ARSD | 414 | arylsulfatase D | P51689 |
| C0270707 | Kluver-Bucy Syndrome | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0270707 | Kluver-Bucy Syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0270715 | Degenerative Diseases, Central Nervous System | AGPAT3 | 56894 | 1-acylglycerol-3-phosphate O-acyltransferase 3 | Q9NRZ7 |
| C0270715 | Degenerative Diseases, Central Nervous System | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0270715 | Degenerative Diseases, Central Nervous System | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0270724 | Infantile Neuroaxonal Dystrophy | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0270724 | Infantile Neuroaxonal Dystrophy | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0270724 | Infantile Neuroaxonal Dystrophy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0270724 | Infantile Neuroaxonal Dystrophy | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0270724 | Infantile Neuroaxonal Dystrophy | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0270726 | Alexander Disease | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0270726 | Alexander Disease | CD38 | 952 | CD38 molecule | P28907 |
| C0270736 | Essential Tremor | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0270736 | Essential Tremor | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0270736 | Essential Tremor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0270736 | Essential Tremor | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0270736 | Essential Tremor | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0270736 | Essential Tremor | STS | 412 | steroid sulfatase | P08842 |
| C0270736 | Essential Tremor | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C0270736 | Essential Tremor | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0270736 | Essential Tremor | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0270736 | Essential Tremor | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0270736 | Essential Tremor | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
