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 52326 - 52350 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0878684 SHORT syndrome PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0878773 Overactive Bladder ICAM1 3383 intercellular adhesion molecule 1 P05362
C0878773 Overactive Bladder HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C0879257 Hereditary Papillary Renal Carcinoma FH 2271 fumarate hydratase P07954
C0887833 Carcinoma, Pancreatic Ductal GLUL 2752 glutamate-ammonia ligase P15104
C0887833 Carcinoma, Pancreatic Ductal VTCN1 79679 V-set domain containing T cell activation inhibitor 1 Q7Z7D3
C0887833 Carcinoma, Pancreatic Ductal PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0887833 Carcinoma, Pancreatic Ductal UGP2 7360 UDP-glucose pyrophosphorylase 2 Q16851
C0887850 Polycystic Kidney, Type 1 Autosomal Dominant Disease GANAB 23193 glucosidase II alpha subunit Q14697
C0887850 Polycystic Kidney, Type 1 Autosomal Dominant Disease PRKCSH 5589 protein kinase C substrate 80K-H P14314
C0887850 Polycystic Kidney, Type 1 Autosomal Dominant Disease PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C0887850 Polycystic Kidney, Type 1 Autosomal Dominant Disease PKD2 5311 polycystin 2, transient receptor potential cation channel Q13563
C0917713 Becker Muscular Dystrophy FKRP 79147 fukutin related protein Q9H9S5
C0917713 Becker Muscular Dystrophy LARGE1 9215 LARGE xylosyl- and glucuronyltransferase 1 O95461
C0917713 Becker Muscular Dystrophy GAA 2548 glucosidase alpha, acid P10253
C0917713 Becker Muscular Dystrophy APRT 353 adenine phosphoribosyltransferase P07741
C0917713 Becker Muscular Dystrophy ACE 1636 angiotensin I converting enzyme P12821
C0917713 Becker Muscular Dystrophy ALOX12 239 arachidonate 12-lipoxygenase, 12S type P18054
C0917713 Becker Muscular Dystrophy ALPP 250 alkaline phosphatase, placental P05187
C0917713 Becker Muscular Dystrophy ATRNL1 26033 attractin like 1 Q5VV63
C0917713 Becker Muscular Dystrophy DAG1 1605 dystroglycan 1 Q14118
C0917713 Becker Muscular Dystrophy GK 2710 glycerol kinase P32189
C0917713 Becker Muscular Dystrophy RGN 9104 regucalcin Q15493
C0917713 Becker Muscular Dystrophy ALDH7A1 501 aldehyde dehydrogenase 7 family member A1 P49419
C0917796 Optic Atrophy, Hereditary, Leber ENO2 2026 enolase 2 P09104

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Last updated: August 19, 2024