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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 |
|---|---|---|---|---|---|
| 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 |
| C0699743 | Congenital muscular dystrophy (disorder) | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| 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 |
| C0687751 | Acanthocytosis | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0687720 | Central Diabetes Insipidus | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0687720 | Central Diabetes Insipidus | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0687720 | Central Diabetes Insipidus | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0687720 | Central Diabetes Insipidus | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0687720 | Central Diabetes Insipidus | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| 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 |
| C0687150 | Parathyroid Gland Adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0687150 | Parathyroid Gland Adenocarcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
