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 |
---|---|---|---|---|---|
C0017919 | Glycogen Storage Disease | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
C0017919 | Glycogen Storage Disease | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
C0017919 | Glycogen Storage Disease | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
C0017919 | Glycogen Storage Disease | SI | 6476 | sucrase-isomaltase | P14410 |
C0017919 | Glycogen Storage Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
C0017919 | Glycogen Storage Disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
C0017919 | Glycogen Storage Disease | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
C0017919 | Glycogen Storage Disease | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0017919 | Glycogen Storage Disease | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
C0017677 | Glossitis, Benign Migratory | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
C0017677 | Glossitis, Benign Migratory | FCN2 | 2220 | ficolin 2 | Q15485 |
C0017671 | Glomus Jugulare Tumor | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
C0017671 | Glomus Jugulare Tumor | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
C0017671 | Glomus Jugulare Tumor | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
C0017668 | Focal glomerulosclerosis | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
C0017668 | Focal glomerulosclerosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
C0017668 | Focal glomerulosclerosis | HPSE | 10855 | heparanase | Q9Y251 |
C0017668 | Focal glomerulosclerosis | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
C0017668 | Focal glomerulosclerosis | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
C0017668 | Focal glomerulosclerosis | VCAN | 1462 | versican | P13611 |
C0017668 | Focal glomerulosclerosis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
C0017668 | Focal glomerulosclerosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0017668 | Focal glomerulosclerosis | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
C0017668 | Focal glomerulosclerosis | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
C0017668 | Focal glomerulosclerosis | LIPC | 3990 | lipase C, hepatic type | P11150 |
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Last updated: August 19, 2024