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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 |
|---|---|---|---|---|---|
| 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 |
| C4551721 | PERRAULT SYNDROME 1 | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| 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 |
| C4551851 | Cornelia de Lange Syndrome 1 | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| 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 |
| C4551858 | Vesicoureteral Reflux 1 | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C4551858 | Vesicoureteral Reflux 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| 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 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4551893 | Toxemia of pregnancy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
