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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 |
|---|---|---|---|---|---|
| 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 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
