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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 |
|---|---|---|---|---|---|
| C0086795 | Pfaundler-Hurler Syndrome | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0086795 | Pfaundler-Hurler Syndrome | CAT | 847 | catalase | P04040 |
| C0031306 | Phagocyte Bactericidal Dysfunction | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| 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 |
| 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 |
| C0031391 | Phencyclidine Abuse | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0085547 | Phenylketonuria, Maternal | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0085547 | Phenylketonuria, Maternal | CAT | 847 | catalase | P04040 |
| 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 |
| C0031511 | Pheochromocytoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C0031511 | Pheochromocytoma | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0031511 | Pheochromocytoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0031511 | Pheochromocytoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0031511 | Pheochromocytoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0031511 | Pheochromocytoma | CS | 1431 | citrate synthase | O75390 |
| C0031511 | Pheochromocytoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0031511 | Pheochromocytoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
