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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 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0031511 | Pheochromocytoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0031511 | Pheochromocytoma | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0031511 | Pheochromocytoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0334419 | Pheochromocytoma, malignant | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| 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 |
| C0236801 | Phobia, Specific | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| 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 |
| C2713392 | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0268194 | Phosphoenolpyruvate carboxykinase deficiency | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0268194 | Phosphoenolpyruvate carboxykinase deficiency | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0085636 | Photophobia | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0085636 | Photophobia | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0085636 | Photophobia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0085636 | Photophobia | HK1 | 3098 | hexokinase 1 | P19367 |
| C0085636 | Photophobia | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0085636 | Photophobia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0085636 | Photophobia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
