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 5676 - 5700 of 62743 in total
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