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 41701 - 41725 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C0265286 Dyggve-Melchior-Clausen syndrome PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0013336 Dwarfism B4GALT7 11285 beta-1,4-galactosyltransferase 7 Q9UBV7
C0013336 Dwarfism B3GALT6 126792 beta-1,3-galactosyltransferase 6 Q96L58
C0013336 Dwarfism EXT2 2132 exostosin glycosyltransferase 2 Q93063
C0013336 Dwarfism EXT1 2131 exostosin glycosyltransferase 1 Q16394
C0013336 Dwarfism CHSY1 22856 chondroitin sulfate synthase 1 Q86X52
C0013336 Dwarfism B3GAT3 26229 beta-1,3-glucuronyltransferase 3 O94766
C0013336 Dwarfism FUT8 2530 fucosyltransferase 8 Q9BYC5
C0013336 Dwarfism LFNG 3955 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Q8NES3
C0013336 Dwarfism MGAT2 4247 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Q10469
C0013336 Dwarfism SLC35C1 55343 solute carrier family 35 member C1 Q96A29
C0013336 Dwarfism XYLT1 64131 xylosyltransferase 1 Q86Y38
C0013336 Dwarfism CSGALNACT1 55790 chondroitin sulfate N-acetylgalactosaminyltransferase 1 Q8TDX6
C0013336 Dwarfism LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C0013336 Dwarfism DDOST 1650 dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit P39656
C0013336 Dwarfism COG5 10466 component of oligomeric golgi complex 5 Q9UP83
C0013336 Dwarfism CHST3 9469 carbohydrate sulfotransferase 3 Q7LGC8
C0013336 Dwarfism ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0013336 Dwarfism AGA 175 aspartylglucosaminidase P20933
C0013336 Dwarfism SLC26A2 1836 solute carrier family 26 member 2 P50443
C0013336 Dwarfism FUCA1 2517 alpha-L-fucosidase 1 P04066
C0013336 Dwarfism COG4 25839 component of oligomeric golgi complex 4 Q9H9E3
C0013336 Dwarfism GALNS 2588 galactosamine (N-acetyl)-6-sulfatase P34059
C0013336 Dwarfism GFPT1 2673 glutamine--fructose-6-phosphate transaminase 1 Q06210
C0013336 Dwarfism GBA 2629 glucosylceramidase beta P04062

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Last updated: August 19, 2024