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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 |
|---|---|---|---|---|---|
| C0003076 | Aniridia | CAT | 847 | catalase | P04040 |
| C0003076 | Aniridia | GPC3 | 2719 | glypican 3 | P51654 |
| C0003076 | Aniridia | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0003076 | Aniridia | ADH7 | 131 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | P40394 |
| C0003076 | Aniridia | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0003076 | Aniridia | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0003076 | Aniridia | ARSD | 414 | arylsulfatase D | P51689 |
| C0003076 | Aniridia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0003028 | Anhidrosis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0003028 | Anhidrosis | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0003028 | Anhidrosis | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0003028 | Anhidrosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0003028 | Anhidrosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0003028 | Anhidrosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0003028 | Anhidrosis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0017605 | Angle Closure Glaucoma | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0017605 | Angle Closure Glaucoma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0017605 | Angle Closure Glaucoma | DCN | 1634 | decorin | P07585 |
| C0017605 | Angle Closure Glaucoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0017605 | Angle Closure Glaucoma | CAT | 847 | catalase | P04040 |
| C0017605 | Angle Closure Glaucoma | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0017605 | Angle Closure Glaucoma | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0017605 | Angle Closure Glaucoma | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0017605 | Angle Closure Glaucoma | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0392662 | Angiostrongyliasis | LGALS2 | 3957 | galectin 2 | P05162 |
