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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 |
|---|---|---|---|---|---|
| C1531647 | Cerebral ventriculomegaly | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1531647 | Cerebral ventriculomegaly | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C1531647 | Cerebral ventriculomegaly | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C1531647 | Cerebral ventriculomegaly | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C1531647 | Cerebral ventriculomegaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C1531647 | Cerebral ventriculomegaly | PRNP | 5621 | prion protein | P04156 |
| C1531647 | Cerebral ventriculomegaly | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C1531647 | Cerebral ventriculomegaly | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1531647 | Cerebral ventriculomegaly | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1531647 | Cerebral ventriculomegaly | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1531647 | Cerebral ventriculomegaly | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1531647 | Cerebral ventriculomegaly | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1531647 | Cerebral ventriculomegaly | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1531647 | Cerebral ventriculomegaly | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1531647 | Cerebral ventriculomegaly | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1531647 | Cerebral ventriculomegaly | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1531647 | Cerebral ventriculomegaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1531647 | Cerebral ventriculomegaly | PRNP | 5621 | prion protein | F7VJQ1 |
| C1531647 | Cerebral ventriculomegaly | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0265342 | Cerebrocostomandibular Syndrome | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0007820 | Cerebrovascular Disorders | GLA | 2717 | galactosidase alpha | P06280 |
| C0007820 | Cerebrovascular Disorders | ARSA | 410 | arylsulfatase A | P15289 |
| C0007820 | Cerebrovascular Disorders | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0007820 | Cerebrovascular Disorders | HPSE | 10855 | heparanase | Q9Y251 |
| C0007820 | Cerebrovascular Disorders | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
