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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 |
|---|---|---|---|---|---|
| C0221055 | Paramyotonia Congenita (disorder) | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0030469 | Paranasal Sinus Disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1456784 | Paranoia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1456784 | Paranoia | MANEA | 79694 | mannosidase endo-alpha | Q5SRI9 |
| C1456784 | Paranoia | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C1456784 | Paranoia | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C1456784 | Paranoia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1456784 | Paranoia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C1456784 | Paranoia | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0036349 | Paranoid Schizophrenia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0036349 | Paranoid Schizophrenia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036349 | Paranoid Schizophrenia | CALR | 811 | calreticulin | P27797 |
| C0036349 | Paranoid Schizophrenia | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0036349 | Paranoid Schizophrenia | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0036349 | Paranoid Schizophrenia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0036349 | Paranoid Schizophrenia | ALDH3B1 | 221 | aldehyde dehydrogenase 3 family member B1 | P43353 |
| C0221166 | Paraparesis | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0221166 | Paraparesis | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0221166 | Paraparesis | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0030486 | Paraplegia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0030486 | Paraplegia | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0030486 | Paraplegia | PSAP | 5660 | prosaposin | P07602 |
| C0030486 | Paraplegia | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0030486 | Paraplegia | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0030489 | Paraproteinemias | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
