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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 |
|---|---|---|---|---|---|
| C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C1832409 | Crisponi syndrome | CNTFR | 1271 | ciliary neurotrophic factor receptor | P26992 |
| C1832648 | Hypoparathyroidism familial isolated | AGA | 175 | aspartylglucosaminidase | P20933 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ARSA | 410 | arylsulfatase A | P15289 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | OGA | 10724 | O-GlcNAcase | O60502 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ENO1 | 2023 | enolase 1 | P06733 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | HK1 | 3098 | hexokinase 1 | P19367 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | LGALS4 | 3960 | galectin 4 | P56470 |
