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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 |
|---|---|---|---|---|---|
| C0342782 | Depletion of mitochondrial DNA | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0342782 | Depletion of mitochondrial DNA | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0342782 | Depletion of mitochondrial DNA | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0342782 | Depletion of mitochondrial DNA | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0342784 | Pearson's marrow-pancreas syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0342788 | Renal carnitine transport defect | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0342788 | Renal carnitine transport defect | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342788 | Renal carnitine transport defect | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0342788 | Renal carnitine transport defect | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0342788 | Renal carnitine transport defect | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0342788 | Renal carnitine transport defect | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0342788 | Renal carnitine transport defect | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0342788 | Renal carnitine transport defect | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0342788 | Renal carnitine transport defect | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0342788 | Renal carnitine transport defect | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0342788 | Renal carnitine transport defect | SFTPD | 6441 | surfactant protein D | P35247 |
| C0342788 | Renal carnitine transport defect | SCD5 | 79966 | stearoyl-CoA desaturase 5 | Q86SK9 |
| C0342788 | Renal carnitine transport defect | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CS | 1431 | citrate synthase | O75390 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
