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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 |
|---|---|---|---|---|---|
| C0025958 | Microcephaly | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0025958 | Microcephaly | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0025958 | Microcephaly | CAT | 847 | catalase | P04040 |
| C0025958 | Microcephaly | SELENOI | 85465 | selenoprotein I | Q9C0D9 |
| C0025958 | Microcephaly | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0025958 | Microcephaly | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0025958 | Microcephaly | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0025958 | Microcephaly | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0025958 | Microcephaly | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0025958 | Microcephaly | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0025958 | Microcephaly | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0025958 | Microcephaly | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0025958 | Microcephaly | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
| C0025958 | Microcephaly | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0025958 | Microcephaly | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0025958 | Microcephaly | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0025958 | Microcephaly | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0025958 | Microcephaly | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0025958 | Microcephaly | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0025958 | Microcephaly | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0025958 | Microcephaly | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0025958 | Microcephaly | PISD | 23761 | phosphatidylserine decarboxylase | Q9UG56 |
| C0025958 | Microcephaly | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0025958 | Microcephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0025958 | Microcephaly | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
