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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 |
|---|---|---|---|---|---|
| C0086543 | Cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0086543 | Cataract | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0086543 | Cataract | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0086543 | Cataract | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0086543 | Cataract | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0086543 | Cataract | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0086543 | Cataract | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0086543 | Cataract | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0086543 | Cataract | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0007384 | Cataplexy | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0007384 | Cataplexy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0007384 | Cataplexy | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C2931868 | Catalase deficiency | CAT | 847 | catalase | P04040 |
| C2931868 | Catalase deficiency | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0007361 | Cat-Scratch Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0007361 | Cat-Scratch Disease | CALR | 811 | calreticulin | P27797 |
| C0007361 | Cat-Scratch Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0220748 | Cartilage-hair hypoplasia | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0220748 | Cartilage-hair hypoplasia | KLB | 152831 | klotho beta | Q86Z14 |
| C0220748 | Cartilage-hair hypoplasia | CAT | 847 | catalase | P04040 |
| C0220748 | Cartilage-hair hypoplasia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0220748 | Cartilage-hair hypoplasia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0007302 | Cartilage Diseases | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0007286 | Carpal Tunnel Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0007286 | Carpal Tunnel Syndrome | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
