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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 |
|---|---|---|---|---|---|
| C3887499 | Renal cyst | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | LPIN1 | 23175 | lipin 1 | Q14693 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| C3887551 | Memory dysfunction | FUT10 | 84750 | fucosyltransferase 10 | Q6P4F1 |
| C3887551 | Memory dysfunction | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C3887551 | Memory dysfunction | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C3887551 | Memory dysfunction | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3887551 | Memory dysfunction | KL | 9365 | klotho | Q9UEF7 |
| C3887551 | Memory dysfunction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3887551 | Memory dysfunction | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C3887551 | Memory dysfunction | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3887551 | Memory dysfunction | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C3887551 | Memory dysfunction | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C3887551 | Memory dysfunction | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3887551 | Memory dysfunction | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3887551 | Memory dysfunction | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3887551 | Memory dysfunction | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C3887558 | Hemophagocytic Syndrome | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3887608 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3887608 | HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
