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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 |
|---|---|---|---|---|---|
| C0221026 | X-linked agammaglobulinemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0221026 | X-linked agammaglobulinemia | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0221026 | X-linked agammaglobulinemia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0221026 | X-linked agammaglobulinemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0221026 | X-linked agammaglobulinemia | CD14 | 929 | CD14 molecule | P08571 |
| C0221026 | X-linked agammaglobulinemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0221026 | X-linked agammaglobulinemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0221026 | X-linked agammaglobulinemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0410203 | X-linked centronuclear myopathy | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0410203 | X-linked centronuclear myopathy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0410203 | X-linked centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410203 | X-linked centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0410203 | X-linked centronuclear myopathy | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
| C0410203 | X-linked centronuclear myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C4551551 | X-linked hereditary motor and sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0265216 | X-linked hydrocephalus syndrome | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0265216 | X-linked hydrocephalus syndrome | CNTN5 | 53942 | contactin 5 | O94779 |
| C0265216 | X-linked hydrocephalus syndrome | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | CD38 | 952 | CD38 molecule | P28907 |
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | CD22 | 933 | CD22 molecule | P20273 |
| C4552072 | X-linked infantile spasms | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C4552072 | X-linked infantile spasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4552072 | X-linked infantile spasms | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C4552072 | X-linked infantile spasms | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
