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 51051 - 51075 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C1531647 Cerebral ventriculomegaly CHST14 113189 carbohydrate sulfotransferase 14 Q8NCH0
C1531647 Cerebral ventriculomegaly B3GLCT 145173 beta 3-glucosyltransferase Q6Y288
C1531647 Cerebral ventriculomegaly EXT1 2131 exostosin glycosyltransferase 1 Q16394
C1531647 Cerebral ventriculomegaly PIGN 23556 phosphatidylinositol glycan anchor biosynthesis class N O95427
C1531647 Cerebral ventriculomegaly FKTN 2218 fukutin O75072
C1531647 Cerebral ventriculomegaly POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1531647 Cerebral ventriculomegaly POMGNT1 55624 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Q8WZA1
C1531647 Cerebral ventriculomegaly FKRP 79147 fukutin related protein Q9H9S5
C1531647 Cerebral ventriculomegaly LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C1531647 Cerebral ventriculomegaly POMGNT2 84892 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Q8NAT1
C1531647 Cerebral ventriculomegaly GBA 2629 glucosylceramidase beta P04062
C1531647 Cerebral ventriculomegaly GLB1 2720 galactosidase beta 1 P16278
C1531647 Cerebral ventriculomegaly SUMF1 285362 sulfatase modifying factor 1 Q8NBK3
C1531647 Cerebral ventriculomegaly COG6 57511 component of oligomeric golgi complex 6 Q9Y2V7
C1531647 Cerebral ventriculomegaly COG8 84342 component of oligomeric golgi complex 8 Q96MW5
C1531647 Cerebral ventriculomegaly CPT2 1376 carnitine palmitoyltransferase 2 P23786
C1531647 Cerebral ventriculomegaly TMTC3 160418 transmembrane O-mannosyltransferase targeting cadherins 3 Q6ZXV5
C1531647 Cerebral ventriculomegaly FBP1 2203 fructose-bisphosphatase 1 P09467
C1531647 Cerebral ventriculomegaly GMPPB 29925 GDP-mannose pyrophosphorylase B Q9Y5P6
C1531647 Cerebral ventriculomegaly PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C1531647 Cerebral ventriculomegaly MYORG 57462 myogenesis regulating glycosidase (putative) Q6NSJ0
C1531647 Cerebral ventriculomegaly SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C1531647 Cerebral ventriculomegaly FIG4 9896 FIG4 phosphoinositide 5-phosphatase Q92562
C1531647 Cerebral ventriculomegaly AGPAT2 10555 1-acylglycerol-3-phosphate O-acyltransferase 2 O15120
C1531647 Cerebral ventriculomegaly DHCR7 1717 7-dehydrocholesterol reductase Q9UBM7

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