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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 |
|---|---|---|---|---|---|
| C0524524 | Pseudoaphakia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0524524 | Pseudoaphakia | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C0410538 | Pseudoachondroplasia | CANX | 821 | calnexin | P27824 |
| C0410538 | Pseudoachondroplasia | DCN | 1634 | decorin | P07585 |
| C0410538 | Pseudoachondroplasia | ACAN | 176 | aggrecan | P16112 |
| C0410538 | Pseudoachondroplasia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C1533628 | Pseudo-Zellweger syndrome | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0033788 | Pseudo-Hurler Polydystrophy | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0033788 | Pseudo-Hurler Polydystrophy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0033788 | Pseudo-Hurler Polydystrophy | OGA | 10724 | O-GlcNAcase | O60502 |
| C0033788 | Pseudo-Hurler Polydystrophy | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0033788 | Pseudo-Hurler Polydystrophy | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0334607 | Psammomatous Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033770 | Prune Belly Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0033770 | Prune Belly Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0033770 | Prune Belly Syndrome | ACAN | 176 | aggrecan | P16112 |
| C0033770 | Prune Belly Syndrome | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0033770 | Prune Belly Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0033770 | Prune Belly Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0033770 | Prune Belly Syndrome | SELE | 6401 | selectin E | P16581 |
| C0033770 | Prune Belly Syndrome | SFTPD | 6441 | surfactant protein D | P35247 |
| C0033770 | Prune Belly Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0033770 | Prune Belly Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0033740 | Protozoan Infections | HK1 | 3098 | hexokinase 1 | P19367 |
| C0033740 | Protozoan Infections | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
