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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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013336 | Dwarfism | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0013336 | Dwarfism | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0013336 | Dwarfism | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0013336 | Dwarfism | CD38 | 952 | CD38 molecule | P28907 |
| C0013336 | Dwarfism | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0013336 | Dwarfism | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0013336 | Dwarfism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0013336 | Dwarfism | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0013336 | Dwarfism | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0013336 | Dwarfism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0013336 | Dwarfism | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0013336 | Dwarfism | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0013336 | Dwarfism | ACAN | 176 | aggrecan | P16112 |
| C0013336 | Dwarfism | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0013336 | Dwarfism | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0013336 | Dwarfism | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0013336 | Dwarfism | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0013336 | Dwarfism | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0013336 | Dwarfism | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0013336 | Dwarfism | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0013336 | Dwarfism | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0013336 | Dwarfism | STS | 412 | steroid sulfatase | P08842 |
| C0013336 | Dwarfism | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0013336 | Dwarfism | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
