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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 | PARP11 | 57097 | poly(ADP-ribose) polymerase family member 11 | Q9NR21 |
| C0025958 | Microcephaly | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0025958 | Microcephaly | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0025958 | Microcephaly | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0025958 | Microcephaly | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0025958 | Microcephaly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0025958 | Microcephaly | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0025958 | Microcephaly | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0025958 | Microcephaly | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0025958 | Microcephaly | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0025958 | Microcephaly | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C0025958 | Microcephaly | FH | 2271 | fumarate hydratase | P07954 |
| C0025958 | Microcephaly | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0025958 | Microcephaly | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0025958 | Microcephaly | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0025958 | Microcephaly | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0025958 | Microcephaly | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0025958 | Microcephaly | SMPD4 | 55627 | sphingomyelin phosphodiesterase 4 | Q9NXE4 |
| C0025958 | Microcephaly | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0025958 | Microcephaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0025958 | Microcephaly | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0025958 | Microcephaly | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0025958 | Microcephaly | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0025958 | Microcephaly | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0025958 | Microcephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
