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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 |
|---|---|---|---|---|---|
| C0687720 | Central Diabetes Insipidus | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0687720 | Central Diabetes Insipidus | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0687720 | Central Diabetes Insipidus | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0687720 | Central Diabetes Insipidus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0687720 | Central Diabetes Insipidus | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0687720 | Central Diabetes Insipidus | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0687720 | Central Diabetes Insipidus | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0687751 | Acanthocytosis | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0699743 | Congenital muscular dystrophy (disorder) | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0699743 | Congenital muscular dystrophy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0699743 | Congenital muscular dystrophy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0699743 | Congenital muscular dystrophy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0699743 | Congenital muscular dystrophy (disorder) | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0699743 | Congenital muscular dystrophy (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0699743 | Congenital muscular dystrophy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0699743 | Congenital muscular dystrophy (disorder) | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0699743 | Congenital muscular dystrophy (disorder) | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0699743 | Congenital muscular dystrophy (disorder) | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0699743 | Congenital muscular dystrophy (disorder) | CHKA | 1119 | choline kinase alpha | P35790 |
