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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 |
|---|---|---|---|---|---|
| C0027830 | neurofibroma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027830 | neurofibroma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0027830 | neurofibroma | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0027765 | nervous system disorder | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0027765 | nervous system disorder | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0027765 | nervous system disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0027765 | nervous system disorder | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0027765 | nervous system disorder | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0027765 | nervous system disorder | GUSB | 2990 | glucuronidase beta | P08236 |
| C0027765 | nervous system disorder | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0027765 | nervous system disorder | ARSA | 410 | arylsulfatase A | P15289 |
| C0027765 | nervous system disorder | MANBA | 4126 | mannosidase beta | O00462 |
| C0027765 | nervous system disorder | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0027765 | nervous system disorder | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0027765 | nervous system disorder | NEU3 | 10825 | neuraminidase 3 | Q9UQ49 |
| C0027765 | nervous system disorder | OGA | 10724 | O-GlcNAcase | O60502 |
| C0027765 | nervous system disorder | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0027765 | nervous system disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0027765 | nervous system disorder | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0027765 | nervous system disorder | MANEAL | 149175 | mannosidase endo-alpha like | Q5VSG8 |
| C0027765 | nervous system disorder | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0027765 | nervous system disorder | ENO2 | 2026 | enolase 2 | P09104 |
| C0027765 | nervous system disorder | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C0027765 | nervous system disorder | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0027765 | nervous system disorder | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
