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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 |
|---|---|---|---|---|---|
| C0268124 | Adenosine deaminase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0268125 | Purine-nucleoside phosphorylase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0268130 | Hereditary orotic aciduria, type 1 | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0268135 | Xeroderma pigmentosum, group A | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0268135 | Xeroderma pigmentosum, group A | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0268135 | Xeroderma pigmentosum, group A | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0268138 | Xeroderma Pigmentosum, Complementation Group D | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0268146 | Glucose-6-phosphate transport defect | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0268146 | Glucose-6-phosphate transport defect | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0268146 | Glucose-6-phosphate transport defect | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0268151 | Classical galactosemia | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0268151 | Classical galactosemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
