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 47626 - 47650 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0016667 Fragile X Syndrome INPP5K 51763 inositol polyphosphate-5-phosphatase K Q9BT40
C0016667 Fragile X Syndrome PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0016667 Fragile X Syndrome PLCG1 5335 phospholipase C gamma 1 P19174
C0016667 Fragile X Syndrome ICAM5 7087 intercellular adhesion molecule 5 Q9UMF0
C0016667 Fragile X Syndrome CAT 847 catalase P04040
C0016667 Fragile X Syndrome CD44 960 CD44 molecule (Indian blood group) P16070
C0016667 Fragile X Syndrome HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C0016667 Fragile X Syndrome PGD 5226 phosphogluconate dehydrogenase P52209
C0016667 Fragile X Syndrome PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0016667 Fragile X Syndrome SDC2 6383 syndecan 2 P34741
C0016667 Fragile X Syndrome ARSD 414 arylsulfatase D P51689
C0016667 Fragile X Syndrome PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0016667 Fragile X Syndrome PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0016667 Fragile X Syndrome PTEN 5728 phosphatase and tensin homolog P60484
C0016522 Foramen Ovale, Patent PIGN 23556 phosphatidylinositol glycan anchor biosynthesis class N O95427
C0016522 Foramen Ovale, Patent B3GAT3 26229 beta-1,3-glucuronyltransferase 3 O94766
C0016522 Foramen Ovale, Patent ALG12 79087 ALG12 alpha-1,6-mannosyltransferase Q9BV10
C0016522 Foramen Ovale, Patent PIGQ 9091 phosphatidylinositol glycan anchor biosynthesis class Q Q9BRB3
C0016522 Foramen Ovale, Patent CHST3 9469 carbohydrate sulfotransferase 3 Q7LGC8
C0016522 Foramen Ovale, Patent GAA 2548 glucosidase alpha, acid P10253
C0016522 Foramen Ovale, Patent G6PC3 92579 glucose-6-phosphatase catalytic subunit 3 Q9BUM1
C0016522 Foramen Ovale, Patent DSE 29940 dermatan sulfate epimerase Q9UL01
C0016522 Foramen Ovale, Patent RENBP 5973 renin binding protein P51606
C0016522 Foramen Ovale, Patent TALDO1 6888 transaldolase 1 P37837
C0016522 Foramen Ovale, Patent ACADVL 37 acyl-CoA dehydrogenase very long chain P49748

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Last updated: August 19, 2024