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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 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0031511 | Pheochromocytoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0031485 | Phenylketonurias | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0031485 | Phenylketonurias | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0031485 | Phenylketonurias | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0031485 | Phenylketonurias | CAT | 847 | catalase | P04040 |
| C0031485 | Phenylketonurias | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0085547 | Phenylketonuria, Maternal | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0085547 | Phenylketonuria, Maternal | CAT | 847 | catalase | P04040 |
| C0031391 | Phencyclidine Abuse | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0031350 | Pharyngitis | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0031350 | Pharyngitis | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0031350 | Pharyngitis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0031347 | Pharyngeal Neoplasms | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0031347 | Pharyngeal Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0031347 | Pharyngeal Neoplasms | ADH7 | 131 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | P40394 |
| C0031306 | Phagocyte Bactericidal Dysfunction | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0086795 | Pfaundler-Hurler Syndrome | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0086795 | Pfaundler-Hurler Syndrome | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0086795 | Pfaundler-Hurler Syndrome | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0086795 | Pfaundler-Hurler Syndrome | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0086795 | Pfaundler-Hurler Syndrome | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0086795 | Pfaundler-Hurler Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0086795 | Pfaundler-Hurler Syndrome | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C0086795 | Pfaundler-Hurler Syndrome | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0086795 | Pfaundler-Hurler Syndrome | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
