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 |
---|---|---|---|---|---|
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 |
C4551551 | X-linked hereditary motor and sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
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 |
C0221026 | X-linked agammaglobulinemia | GLA | 2717 | galactosidase alpha | P06280 |
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 |
C0342482 | X-linked Adrenal Hypoplasia | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
C0342482 | X-linked Adrenal Hypoplasia | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
C0342482 | X-linked Adrenal Hypoplasia | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
C0342482 | X-linked Adrenal Hypoplasia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
C0342482 | X-linked Adrenal Hypoplasia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
C0342482 | X-linked Adrenal Hypoplasia | GK | 2710 | glycerol kinase | P32189 |
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Last updated: August 19, 2024