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 46576 - 46600 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0426970 Spastic Quadriplegia ARSA 410 arylsulfatase A P15289
C0426970 Spastic Quadriplegia GLYCTK 132158 glycerate kinase Q8IVS8
C0426970 Spastic Quadriplegia CYB5R3 1727 cytochrome b5 reductase 3 P00387
C0426970 Spastic Quadriplegia COLGALT1 79709 collagen beta(1-O)galactosyltransferase 1 Q8NBJ5
C0426970 Spastic Quadriplegia GAD1 2571 glutamate decarboxylase 1 Q99259
C0426970 Spastic Quadriplegia ELOVL4 6785 ELOVL fatty acid elongase 4 Q9GZR5
C0426970 Spastic Quadriplegia PLA2G6 8398 phospholipase A2 group VI O60733
C0426970 Spastic Quadriplegia PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0426970 Spastic Quadriplegia DEGS1 8560 delta 4-desaturase, sphingolipid 1 O15121
C0426970 Spastic Quadriplegia SYNJ1 8867 synaptojanin 1 O43426
C0426970 Spastic Quadriplegia COG2 22796 component of oligomeric golgi complex 2 Q14746
C0427055 Facial Paresis MTM1 4534 myotubularin 1 Q13496
C0427480 Elliptocytosis found ACSL4 2182 acyl-CoA synthetase long chain family member 4 O60488
C0428791 Aortic valve calcification ENPP1 5167 ectonucleotide pyrophosphatase/phosphodiesterase 1 P22413
C0428791 Aortic valve calcification ACE 1636 angiotensin I converting enzyme P12821
C0428791 Aortic valve calcification ICAM1 3383 intercellular adhesion molecule 1 P05362
C0428791 Aortic valve calcification STS 412 steroid sulfatase P08842
C0428791 Aortic valve calcification CD44 960 CD44 molecule (Indian blood group) P16070
C0428908 Sinus Node Dysfunction (disorder) GPD1L 23171 glycerol-3-phosphate dehydrogenase 1 like Q8N335
C0428908 Sinus Node Dysfunction (disorder) APRT 353 adenine phosphoribosyltransferase P07741
C0428908 Sinus Node Dysfunction (disorder) CACNA2D1 781 calcium voltage-gated channel auxiliary subunit alpha2delta 1 P54289
C0431108 Anaplastic Oligoastrocytoma IDH1 3417 isocitrate dehydrogenase (NADP(+)) 1 O75874
C0431108 Anaplastic Oligoastrocytoma STS 412 steroid sulfatase P08842
C0431108 Anaplastic Oligoastrocytoma IDH2 3418 isocitrate dehydrogenase (NADP(+)) 2 P48735
C0431121 Clear Cell Meningioma PTEN 5728 phosphatase and tensin homolog P60484

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Last updated: August 19, 2024