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 44451 - 44475 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0020255 Hydrocephalus FKTN 2218 fukutin O75072
C0020255 Hydrocephalus B3GAT3 26229 beta-1,3-glucuronyltransferase 3 O94766
C0020255 Hydrocephalus POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C0020255 Hydrocephalus EOGT 285203 EGF domain specific O-linked N-acetylglucosamine transferase Q5NDL2
C0020255 Hydrocephalus POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C0020255 Hydrocephalus UGCG 7357 UDP-glucose ceramide glucosyltransferase Q16739
C0020255 Hydrocephalus FKRP 79147 fukutin related protein Q9H9S5
C0020255 Hydrocephalus POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C0020255 Hydrocephalus POMK 84197 protein O-mannose kinase Q9H5K3
C0020255 Hydrocephalus LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C0020255 Hydrocephalus CHST3 9469 carbohydrate sulfotransferase 3 Q7LGC8
C0020255 Hydrocephalus GALC 2581 galactosylceramidase P54803
C0020255 Hydrocephalus GBA 2629 glucosylceramidase beta P04062
C0020255 Hydrocephalus SUMF1 285362 sulfatase modifying factor 1 Q8NBK3
C0020255 Hydrocephalus GUSB 2990 glucuronidase beta P08236
C0020255 Hydrocephalus IDUA 3425 alpha-L-iduronidase P35475
C0020255 Hydrocephalus IDS 3423 iduronate 2-sulfatase P22304
C0020255 Hydrocephalus ARSB 411 arylsulfatase B P15848
C0020255 Hydrocephalus RXYLT1 10329 ribitol xylosyltransferase 1 Q9Y2B1
C0020255 Hydrocephalus COMT 1312 catechol-O-methyltransferase P21964
C0020255 Hydrocephalus GMPPB 29925 GDP-mannose pyrophosphorylase B Q9Y5P6
C0020255 Hydrocephalus PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0020255 Hydrocephalus INPP5E 56623 inositol polyphosphate-5-phosphatase E Q9NRR6
C0020255 Hydrocephalus FIG4 9896 FIG4 phosphoinositide 5-phosphatase Q92562
C0020255 Hydrocephalus SLC17A5 26503 solute carrier family 17 member 5 Q9NRA2

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Last updated: August 19, 2024