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 |
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DisGeNET | July 29, 2024 |
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