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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 |
|---|---|---|---|---|---|
| C4551858 | Vesicoureteral Reflux 1 | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C4551858 | Vesicoureteral Reflux 1 | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C4551854 | HYPOPLASTIC LEFT HEART SYNDROME 1 | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C4551854 | HYPOPLASTIC LEFT HEART SYNDROME 1 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C4551854 | HYPOPLASTIC LEFT HEART SYNDROME 1 | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C4551851 | Cornelia de Lange Syndrome 1 | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C4551804 | Brugada Syndrome 1 | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C4551804 | Brugada Syndrome 1 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C4551721 | PERRAULT SYNDROME 1 | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C4551720 | Primary Ciliary Dyskinesia | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551720 | Primary Ciliary Dyskinesia | SDC1 | 6382 | syndecan 1 | P18827 |
| C4551720 | Primary Ciliary Dyskinesia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C4551720 | Primary Ciliary Dyskinesia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C4551720 | Primary Ciliary Dyskinesia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C4551720 | Primary Ciliary Dyskinesia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4551720 | Primary Ciliary Dyskinesia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C4551720 | Primary Ciliary Dyskinesia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C4551720 | Primary Ciliary Dyskinesia | NTM | 50863 | neurotrimin | Q9P121 |
| C4551720 | Primary Ciliary Dyskinesia | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C4551720 | Primary Ciliary Dyskinesia | SCD5 | 79966 | stearoyl-CoA desaturase 5 | Q86SK9 |
| C4551720 | Primary Ciliary Dyskinesia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C4551720 | Primary Ciliary Dyskinesia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C4551686 | Malignant neoplasm of soft tissue | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C4551686 | Malignant neoplasm of soft tissue | HPSE | 10855 | heparanase | Q9Y251 |
| C4551686 | Malignant neoplasm of soft tissue | OGA | 10724 | O-GlcNAcase | O60502 |
