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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 |
|---|---|---|---|---|---|
| C3495427 | Fanconi-Bickel Syndrome | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3495427 | Fanconi-Bickel Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C3495427 | Fanconi-Bickel Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C3495417 | Hemifacial microsomia | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3494506 | Pseudohypoparathyroidism, Type Ia | GPC1 | 2817 | glypican 1 | P35052 |
| C3494187 | Factor VIII Deficiency | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C3494187 | Factor VIII Deficiency | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C3489793 | 46,XY Sex Reversal 3 | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C3489532 | Cone-Rod Dystrophy 2 | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C3489532 | Cone-Rod Dystrophy 2 | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C3489532 | Cone-Rod Dystrophy 2 | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C3489532 | Cone-Rod Dystrophy 2 | CD38 | 952 | CD38 molecule | P28907 |
| C3489532 | Cone-Rod Dystrophy 2 | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
| C3489532 | Cone-Rod Dystrophy 2 | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C3489532 | Cone-Rod Dystrophy 2 | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C3489532 | Cone-Rod Dystrophy 2 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C3489532 | Cone-Rod Dystrophy 2 | LGALS1 | 3956 | galectin 1 | P09382 |
| C3489532 | Cone-Rod Dystrophy 2 | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3489532 | Cone-Rod Dystrophy 2 | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C3489532 | Cone-Rod Dystrophy 2 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
