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
Displaying entries 57051 - 57075 of 62743 in total
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