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 49776 - 49800 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0011991 Diarrhea CYP27A1 1593 cytochrome P450 family 27 subfamily A member 1 Q02318
C0011991 Diarrhea ACSF3 197322 acyl-CoA synthetase family member 3 Q4G176
C0011991 Diarrhea SDCBP2 27111 syndecan binding protein 2 Q9H190
C0011991 Diarrhea HMGCL 3155 3-hydroxy-3-methylglutaryl-CoA lyase P35914
C0011991 Diarrhea HMGCS2 3158 3-hydroxy-3-methylglutaryl-CoA synthase 2 P54868
C0011991 Diarrhea HADH 3033 hydroxyacyl-CoA dehydrogenase Q16836
C0011991 Diarrhea MTM1 4534 myotubularin 1 Q13496
C0011991 Diarrhea PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0011991 Diarrhea PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0011991 Diarrhea PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C0011991 Diarrhea PRNP 5621 prion protein F7VJQ1
C0011991 Diarrhea PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C0011989 Camurati-Engelmann Syndrome TMEM165 55858 transmembrane protein 165 Q9HC07
C0011989 Camurati-Engelmann Syndrome DPEP1 1800 dipeptidase 1 P16444
C0011989 Camurati-Engelmann Syndrome LGALS1 3956 galectin 1 P09382
C0011989 Camurati-Engelmann Syndrome TBXAS1 6916 thromboxane A synthase 1 P24557
C0011981 Diaphragmatic Eventration PLOD3 8985 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568
C0011981 Diaphragmatic Eventration PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0011981 Diaphragmatic Eventration MTM1 4534 myotubularin 1 Q13496
C0011884 Diabetic Retinopathy HS6ST3 266722 heparan sulfate 6-O-sulfotransferase 3 Q8IZP7
C0011884 Diabetic Retinopathy ST8SIA4 7903 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 Q92187
C0011884 Diabetic Retinopathy ST3GAL4 6484 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 Q11206
C0011884 Diabetic Retinopathy OGT 8473 O-linked N-acetylglucosamine (GlcNAc) transferase O15294
C0011884 Diabetic Retinopathy B4GALT2 8704 beta-1,4-galactosyltransferase 2 O60909
C0011884 Diabetic Retinopathy ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487

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Last updated: August 19, 2024