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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 |
|---|---|---|---|---|---|
| C0398791 | Nijmegen Breakage Syndrome | TMED3 | 23423 | transmembrane p24 trafficking protein 3 | Q9Y3Q3 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0398791 | Nijmegen Breakage Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0339535 | Night blindness, congenital stationary | NYX | 60506 | nyctalopin | Q9GZU5 |
| C3495587 | Night Blindness, Congenital Stationary, Type 1A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0028064 | Niemann-Pick Diseases | GALC | 2581 | galactosylceramidase | P54803 |
| C0028064 | Niemann-Pick Diseases | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0028064 | Niemann-Pick Diseases | GLA | 2717 | galactosidase alpha | P06280 |
| C0028064 | Niemann-Pick Diseases | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0028064 | Niemann-Pick Diseases | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0028064 | Niemann-Pick Diseases | OGA | 10724 | O-GlcNAcase | O60502 |
| C0028064 | Niemann-Pick Diseases | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0028064 | Niemann-Pick Diseases | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0028064 | Niemann-Pick Diseases | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0268248 | Niemann-Pick Disease, Type E | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0268247 | Niemann-Pick Disease, Type D | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C3179455 | Niemann-Pick Disease, Type C1 | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C3179455 | Niemann-Pick Disease, Type C1 | GNPDA2 | 132789 | glucosamine-6-phosphate deaminase 2 | Q8TDQ7 |
| C3179455 | Niemann-Pick Disease, Type C1 | CD22 | 933 | CD22 molecule | P20273 |
| C3179455 | Niemann-Pick Disease, Type C1 | GPC1 | 2817 | glypican 1 | P35052 |
| C0220756 | Niemann-Pick Disease, Type C | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0220756 | Niemann-Pick Disease, Type C | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0220756 | Niemann-Pick Disease, Type C | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0220756 | Niemann-Pick Disease, Type C | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
