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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 |
|---|---|---|---|---|---|
| C0004943 | Behcet Syndrome | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0004943 | Behcet Syndrome | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0004943 | Behcet Syndrome | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0004943 | Behcet Syndrome | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0004943 | Behcet Syndrome | ACLY | 47 | ATP citrate lyase | P53396 |
| C0004943 | Behcet Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0004943 | Behcet Syndrome | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0004943 | Behcet Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004943 | Behcet Syndrome | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0278076 | Behavioral tic | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| 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 |
| C0004903 | Beckwith-Wiedemann Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0004903 | Beckwith-Wiedemann Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0004903 | Beckwith-Wiedemann Syndrome | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0004903 | Beckwith-Wiedemann Syndrome | LGALS1 | 3956 | galectin 1 | P09382 |
| C0004903 | Beckwith-Wiedemann Syndrome | CD48 | 962 | CD48 molecule | P09326 |
| 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 |
| C0917713 | Becker Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0917713 | Becker Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
