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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 |
|---|---|---|---|---|---|
| C0281658 | Intraocular Lymphoma | CAT | 847 | catalase | P04040 |
| C0281784 | Benign Meningioma | LGALS3 | 3958 | galectin 3 | P17931 |
| C0281784 | Benign Meningioma | FASN | 2194 | fatty acid synthase | P49327 |
| C0281784 | Benign Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | STS | 412 | steroid sulfatase | P08842 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0282126 | Depression, Neurotic | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0282126 | Depression, Neurotic | SELP | 6403 | selectin P | P16109 |
| C0282126 | Depression, Neurotic | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0282126 | Depression, Neurotic | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0282160 | Aplasia Cutis Congenita | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0282160 | Aplasia Cutis Congenita | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0282160 | Aplasia Cutis Congenita | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0282160 | Aplasia Cutis Congenita | GUSB | 2990 | glucuronidase beta | P08236 |
| C0282160 | Aplasia Cutis Congenita | ARSA | 410 | arylsulfatase A | P15289 |
| C0282160 | Aplasia Cutis Congenita | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0282160 | Aplasia Cutis Congenita | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0282160 | Aplasia Cutis Congenita | CTBS | 1486 | chitobiase | Q01459 |
| C0282160 | Aplasia Cutis Congenita | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0282160 | Aplasia Cutis Congenita | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0282160 | Aplasia Cutis Congenita | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
