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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 | 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 |
| C0013336 | Dwarfism | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0013336 | Dwarfism | GCK | 2645 | glucokinase | P35557 |
| C0013336 | Dwarfism | GK | 2710 | glycerol kinase | P32189 |
| C0013336 | Dwarfism | GPC3 | 2719 | glypican 3 | P51654 |
| C0013336 | Dwarfism | GPD1 | 2819 | glycerol-3-phosphate dehydrogenase 1 | P21695 |
| C0013336 | Dwarfism | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0013336 | Dwarfism | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0013336 | Dwarfism | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0013336 | Dwarfism | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0013336 | Dwarfism | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013336 | Dwarfism | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
