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 8601 - 8625 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0008297 Choanal Atresia COMT 1312 catechol-O-methyltransferase P21964
C0008297 Choanal Atresia SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C0008297 Choanal Atresia DHCR7 1717 7-dehydrocholesterol reductase Q9UBM7
C0008297 Choanal Atresia ALDH1A3 220 aldehyde dehydrogenase 1 family member A3 P47895
C0008297 Choanal Atresia GAS1 2619 growth arrest specific 1 P54826
C0008297 Choanal Atresia PTDSS1 9791 phosphatidylserine synthase 1 P48651
C0008309 Bile duct adenoma NCAM1 4684 neural cell adhesion molecule 1 P13591
C0008311 Cholangitis FUT2 2524 fucosyltransferase 2 Q10981
C0008311 Cholangitis SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0008311 Cholangitis PLA2G2D 26279 phospholipase A2 group IID Q9UNK4
C0008311 Cholangitis PLA2G2A 5320 phospholipase A2 group IIA P14555
C0008311 Cholangitis PLA2G10 8399 phospholipase A2 group X O15496
C0008312 Primary biliary cirrhosis ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C0008312 Primary biliary cirrhosis B3GAT1 27087 beta-1,3-glucuronyltransferase 1 Q9P2W7
C0008312 Primary biliary cirrhosis POGLUT1 56983 protein O-glucosyltransferase 1 Q8NBL1
C0008312 Primary biliary cirrhosis GLB1 2720 galactosidase beta 1 P16278
C0008312 Primary biliary cirrhosis MANBA 4126 mannosidase beta O00462
C0008312 Primary biliary cirrhosis COG6 57511 component of oligomeric golgi complex 6 Q9Y2V7
C0008312 Primary biliary cirrhosis DLAT 1737 dihydrolipoamide S-acetyltransferase P10515
C0008312 Primary biliary cirrhosis HK1 3098 hexokinase 1 P19367
C0008312 Primary biliary cirrhosis UGT2B4 7363 UDP glucuronosyltransferase family 2 member B4 P06133
C0008312 Primary biliary cirrhosis DBT 1629 dihydrolipoamide branched chain transacylase E2 P11182
C0008312 Primary biliary cirrhosis ACE 1636 angiotensin I converting enzyme P12821
C0008312 Primary biliary cirrhosis FH 2271 fumarate hydratase P07954
C0008312 Primary biliary cirrhosis PLCB1 23236 phospholipase C beta 1 Q9NQ66

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Last updated: August 19, 2024