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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 |
|---|---|---|---|---|---|
| C0282513 | Primary Progressive Aphasia (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268381 | Primary amyloidosis | LGALS4 | 3960 | galectin 4 | P56470 |
| C0268381 | Primary amyloidosis | SDC1 | 6382 | syndecan 1 | P18827 |
| C0268381 | Primary amyloidosis | CD38 | 952 | CD38 molecule | P28907 |
| C0268381 | Primary amyloidosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0268381 | Primary amyloidosis | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0268381 | Primary amyloidosis | CAT | 847 | catalase | P04040 |
| C0268381 | Primary amyloidosis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0017606 | Primary angle-closure glaucoma | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0017606 | Primary angle-closure glaucoma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0017606 | Primary angle-closure glaucoma | DCN | 1634 | decorin | P07585 |
| C0017606 | Primary angle-closure glaucoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0017606 | Primary angle-closure glaucoma | CAT | 847 | catalase | P04040 |
| C0017606 | Primary angle-closure glaucoma | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0017606 | Primary angle-closure glaucoma | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0017606 | Primary angle-closure glaucoma | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0017606 | Primary angle-closure glaucoma | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0702135 | Primary atypical pneumonia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0008312 | Primary biliary cirrhosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0008312 | Primary biliary cirrhosis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0008312 | Primary biliary cirrhosis | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0008312 | Primary biliary cirrhosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0008312 | Primary biliary cirrhosis | MANBA | 4126 | mannosidase beta | O00462 |
| C0008312 | Primary biliary cirrhosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0008312 | Primary biliary cirrhosis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
