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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 |
|---|---|---|---|---|---|
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0268194 | Phosphoenolpyruvate carboxykinase deficiency | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0268194 | Phosphoenolpyruvate carboxykinase deficiency | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C2713392 | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0349231 | Phobic anxiety disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0349231 | Phobic anxiety disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0349231 | Phobic anxiety disorder | CAT | 847 | catalase | P04040 |
| C0236801 | Phobia, Specific | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0031572 | Phobia, Social | PSAP | 5660 | prosaposin | P07602 |
| C0031572 | Phobia, Social | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0031572 | Phobia, Social | MANEA | 79694 | mannosidase endo-alpha | Q5SRI9 |
| C0031572 | Phobia, Social | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0334419 | Pheochromocytoma, malignant | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| 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 |
| C0031511 | Pheochromocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0031511 | Pheochromocytoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0031511 | Pheochromocytoma | CHGA | 1113 | chromogranin A | P10645 |
