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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 |
|---|---|---|---|---|---|
| C0029422 | Osteochondrodysplasias | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0029422 | Osteochondrodysplasias | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0029422 | Osteochondrodysplasias | CTSA | 5476 | cathepsin A | P10619 |
| C0029422 | Osteochondrodysplasias | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0029422 | Osteochondrodysplasias | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0029422 | Osteochondrodysplasias | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0029422 | Osteochondrodysplasias | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0029422 | Osteochondrodysplasias | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0029422 | Osteochondrodysplasias | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0029422 | Osteochondrodysplasias | ACAN | 176 | aggrecan | P16112 |
| C0029422 | Osteochondrodysplasias | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0029422 | Osteochondrodysplasias | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0029422 | Osteochondrodysplasias | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029422 | Osteochondrodysplasias | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0029422 | Osteochondrodysplasias | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0029422 | Osteochondrodysplasias | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0729346 | Osteochondritis juvenilis | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0029421 | Osteochondritis Dissecans | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0029421 | Osteochondritis Dissecans | ACAN | 176 | aggrecan | P16112 |
| C0029421 | Osteochondritis Dissecans | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0029417 | Osteoblastoma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0029417 | Osteoblastoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1704328 | Osteoblastic Osteosarcoma | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0157946 | Osteoarthrosis, localized, not specified whether primary or secondary | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0157946 | Osteoarthrosis, localized, not specified whether primary or secondary | ACAN | 176 | aggrecan | P16112 |
