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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0037773 | Spastic Paraplegia, Hereditary | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0037773 | Spastic Paraplegia, Hereditary | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0037773 | Spastic Paraplegia, Hereditary | MAG | 4099 | myelin associated glycoprotein | P20916 |
C0037773 | Spastic Paraplegia, Hereditary | CYP39A1 | 51302 | cytochrome P450 family 39 subfamily A member 1 | Q9NYL5 |
C0037773 | Spastic Paraplegia, Hereditary | PCYT2 | 5833 | phosphate cytidylyltransferase 2, ethanolamine | Q99447 |
C0037773 | Spastic Paraplegia, Hereditary | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
C0037773 | Spastic Paraplegia, Hereditary | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
C0037773 | Spastic Paraplegia, Hereditary | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
C0037773 | Spastic Paraplegia, Hereditary | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C0037773 | Spastic Paraplegia, Hereditary | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
C0037773 | Spastic Paraplegia, Hereditary | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
C0037773 | Spastic Paraplegia, Hereditary | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C3711370 | Spastic Paraplegia Type 7 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
C2675528 | Spastic Paraplegia 42, Autosomal Dominant | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C2677586 | Spastic Paraplegia 39, Autosomal Recessive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0037772 | Spastic Paraplegia | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
C0037772 | Spastic Paraplegia | GALC | 2581 | galactosylceramidase | P54803 |
C0037772 | Spastic Paraplegia | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
C0037772 | Spastic Paraplegia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
C0037772 | Spastic Paraplegia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0037772 | Spastic Paraplegia | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
C0037772 | Spastic Paraplegia | MAG | 4099 | myelin associated glycoprotein | P20916 |
C0037772 | Spastic Paraplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
C0037772 | Spastic Paraplegia | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
C0037772 | Spastic Paraplegia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
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Last updated: August 19, 2024