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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 |
|---|---|---|---|---|---|
| C0235991 | Small for gestational age (disorder) | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0235991 | Small for gestational age (disorder) | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0235991 | Small for gestational age (disorder) | GALC | 2581 | galactosylceramidase | P54803 |
| C0235991 | Small for gestational age (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0235991 | Small for gestational age (disorder) | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0235991 | Small for gestational age (disorder) | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0235991 | Small for gestational age (disorder) | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0235991 | Small for gestational age (disorder) | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0235991 | Small for gestational age (disorder) | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0235991 | Small for gestational age (disorder) | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0235991 | Small for gestational age (disorder) | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0235991 | Small for gestational age (disorder) | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0235991 | Small for gestational age (disorder) | GCK | 2645 | glucokinase | P35557 |
| C0235991 | Small for gestational age (disorder) | GK | 2710 | glycerol kinase | P32189 |
| C0235991 | Small for gestational age (disorder) | GPC1 | 2817 | glypican 1 | P35052 |
| C0235991 | Small for gestational age (disorder) | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0235991 | Small for gestational age (disorder) | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0235991 | Small for gestational age (disorder) | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0235991 | Small for gestational age (disorder) | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0235991 | Small for gestational age (disorder) | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0235991 | Small for gestational age (disorder) | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0236018 | Aura | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0236018 | Aura | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0236018 | Aura | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0236642 | Pick Disease of the Brain | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
