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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 |
|---|---|---|---|---|---|
| C0000768 | Congenital Abnormality | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0000768 | Congenital Abnormality | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0000768 | Congenital Abnormality | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0000768 | Congenital Abnormality | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0000768 | Congenital Abnormality | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0000768 | Congenital Abnormality | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0000768 | Congenital Abnormality | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0000768 | Congenital Abnormality | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0000768 | Congenital Abnormality | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0000768 | Congenital Abnormality | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0000768 | Congenital Abnormality | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0000768 | Congenital Abnormality | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0000768 | Congenital Abnormality | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C0000768 | Congenital Abnormality | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0000768 | Congenital Abnormality | PRNP | 5621 | prion protein | P04156 |
| C0000768 | Congenital Abnormality | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0000768 | Congenital Abnormality | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0000768 | Congenital Abnormality | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0000768 | Congenital Abnormality | CAT | 847 | catalase | P04040 |
| C0000768 | Congenital Abnormality | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0000768 | Congenital Abnormality | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0000768 | Congenital Abnormality | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0000768 | Congenital Abnormality | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0000768 | Congenital Abnormality | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0000768 | Congenital Abnormality | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
