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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 | 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 |
| C0013336 | Dwarfism | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0013336 | Dwarfism | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0013336 | Dwarfism | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0013336 | Dwarfism | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0013336 | Dwarfism | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0013336 | Dwarfism | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0013336 | Dwarfism | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0013336 | Dwarfism | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0013336 | Dwarfism | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0013336 | Dwarfism | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0013336 | Dwarfism | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0013336 | Dwarfism | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0013336 | Dwarfism | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0013336 | Dwarfism | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0013336 | Dwarfism | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0013336 | Dwarfism | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0013336 | Dwarfism | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
