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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 |
|---|---|---|---|---|---|
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | KL | 9365 | klotho | Q9UEF7 |
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3536983 | Familial Hypophosphatemic Rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3536983 | Familial Hypophosphatemic Rickets | KL | 9365 | klotho | Q9UEF7 |
| C3536983 | Familial Hypophosphatemic Rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C3536983 | Familial Hypophosphatemic Rickets | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3536983 | Familial Hypophosphatemic Rickets | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C3536983 | Familial Hypophosphatemic Rickets | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | ENO2 | 2026 | enolase 2 | P09104 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | CHGA | 1113 | chromogranin A | P10645 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3536797 | Ichthyosis Congenita II | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
