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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 |
|---|---|---|---|---|---|
| C0004903 | Beckwith-Wiedemann Syndrome | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0004903 | Beckwith-Wiedemann Syndrome | GPC3 | 2719 | glypican 3 | P51654 |
| C0004903 | Beckwith-Wiedemann Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0004903 | Beckwith-Wiedemann Syndrome | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0004930 | Behavior Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0004930 | Behavior Disorders | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0004930 | Behavior Disorders | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0004930 | Behavior Disorders | ARSD | 414 | arylsulfatase D | P51689 |
| C0278076 | Behavioral tic | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0004943 | Behcet Syndrome | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0004943 | Behcet Syndrome | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0004943 | Behcet Syndrome | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0004943 | Behcet Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0004943 | Behcet Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0004943 | Behcet Syndrome | ENO1 | 2023 | enolase 1 | P06733 |
| C0004943 | Behcet Syndrome | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0004943 | Behcet Syndrome | LYZ | 4069 | lysozyme | P61626 |
| C0004943 | Behcet Syndrome | CALR | 811 | calreticulin | P27797 |
| C0004943 | Behcet Syndrome | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0004943 | Behcet Syndrome | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0004943 | Behcet Syndrome | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0004943 | Behcet Syndrome | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0004943 | Behcet Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0004943 | Behcet Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0004943 | Behcet Syndrome | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
