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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 |
|---|---|---|---|---|---|
| C0268193 | NADH cytochrome B5 reductase deficiency | LPL | 4023 | lipoprotein lipase | P06858 |
| C0544855 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | GPC3 | 2719 | glypican 3 | P51654 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | KL | 9365 | klotho | Q9UEF7 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C3151188 | NEPHRONOPHTHISIS 9 | LGALS1 | 3956 | galectin 1 | P09382 |
| C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C4540559 | NEPHROTIC SYNDROME, TYPE 14 | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C1853124 | NEPHROTIC SYNDROME, TYPE 3 | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C3554330 | NEPHROTIC SYNDROME, TYPE 7 | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C1857747 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C3280371 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | ENO2 | 2026 | enolase 2 | P09104 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C3150896 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
