Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C0342384 | Idiopathic hypogonadotropic hypogonadism | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0342384 | Idiopathic hypogonadotropic hypogonadism | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0342384 | Idiopathic hypogonadotropic hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0342384 | Idiopathic hypogonadotropic hypogonadism | ACAN | 176 | aggrecan | P16112 |
| C0342386 | Follicle stimulating hormone deficiency | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0342474 | Lipoid congenital adrenal hyperplasia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0342474 | Lipoid congenital adrenal hyperplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0342474 | Lipoid congenital adrenal hyperplasia | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0342482 | X-linked Adrenal Hypoplasia | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0342482 | X-linked Adrenal Hypoplasia | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0342482 | X-linked Adrenal Hypoplasia | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C0342482 | X-linked Adrenal Hypoplasia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0342482 | X-linked Adrenal Hypoplasia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0342482 | X-linked Adrenal Hypoplasia | GK | 2710 | glycerol kinase | P32189 |
| C0342482 | X-linked Adrenal Hypoplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0342482 | X-linked Adrenal Hypoplasia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0342482 | X-linked Adrenal Hypoplasia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0342488 | Mineralocorticoid Excess Syndrome, Apparent | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0342488 | Mineralocorticoid Excess Syndrome, Apparent | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0342548 | Early menarche | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0342637 | Hypocalciuric hypercalcemia, familial, type 1 | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0342637 | Hypocalciuric hypercalcemia, familial, type 1 | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
