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 |
---|---|---|---|---|---|
C0037772 | Spastic Paraplegia | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
C0037772 | Spastic Paraplegia | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
C0037772 | Spastic Paraplegia | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C2677586 | Spastic Paraplegia 39, Autosomal Recessive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C2675528 | Spastic Paraplegia 42, Autosomal Dominant | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C3711370 | Spastic Paraplegia Type 7 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
C0037773 | Spastic Paraplegia, Hereditary | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
C0037773 | Spastic Paraplegia, Hereditary | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
C0037773 | Spastic Paraplegia, Hereditary | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
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 |
C0426970 | Spastic Quadriplegia | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
C0426970 | Spastic Quadriplegia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0426970 | Spastic Quadriplegia | ARSA | 410 | arylsulfatase A | P15289 |
C0426970 | Spastic Quadriplegia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
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Last updated: August 19, 2024