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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 |
|---|---|---|---|---|---|
| C0494261 | Combined immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0494261 | Combined immunodeficiency | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0494261 | Combined immunodeficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0478099 | Other deletions of part of a chromosome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0477548 | Other chondrocalcinosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0477548 | Other chondrocalcinosis | KL | 9365 | klotho | Q9UEF7 |
| C0476254 | Dyslexia | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0476254 | Dyslexia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0476254 | Dyslexia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0476254 | Dyslexia | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0476254 | Dyslexia | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0476254 | Dyslexia | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0476254 | Dyslexia | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0476254 | Dyslexia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0476254 | Dyslexia | DGKI | 9162 | diacylglycerol kinase iota | O75912 |
| C0476254 | Dyslexia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0476254 | Dyslexia | ARSD | 414 | arylsulfatase D | P51689 |
| C0476089 | Endometrial Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0476089 | Endometrial Carcinoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0476089 | Endometrial Carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0476089 | Endometrial Carcinoma | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0476089 | Endometrial Carcinoma | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C0476089 | Endometrial Carcinoma | ST6GALNAC1 | 55808 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 | Q9NSC7 |
| C0476089 | Endometrial Carcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0476089 | Endometrial Carcinoma | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
