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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 |
|---|---|---|---|---|---|
| C1527304 | Allergic Reaction | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1527304 | Allergic Reaction | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C1527304 | Allergic Reaction | MANBA | 4126 | mannosidase beta | O00462 |
| C1527304 | Allergic Reaction | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C1527304 | Allergic Reaction | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C1527304 | Allergic Reaction | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C1527304 | Allergic Reaction | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1527304 | Allergic Reaction | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C1527304 | Allergic Reaction | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C1527304 | Allergic Reaction | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C1527304 | Allergic Reaction | ITPKB | 3707 | inositol-trisphosphate 3-kinase B | P27987 |
| C1527303 | Chronic Airflow Obstruction | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C1527303 | Chronic Airflow Obstruction | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C1527303 | Chronic Airflow Obstruction | SFTPD | 6441 | surfactant protein D | P35247 |
| C1527284 | Dental Pulp Stone | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1527231 | Adrenomyeloneuropathy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1527231 | Adrenomyeloneuropathy | MBOAT2 | 129642 | membrane bound O-acyltransferase domain containing 2 | Q6ZWT7 |
| C1527231 | Adrenomyeloneuropathy | GPAT2 | 150763 | glycerol-3-phosphate acyltransferase 2, mitochondrial | Q6NUI2 |
| C1527231 | Adrenomyeloneuropathy | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C1527231 | Adrenomyeloneuropathy | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C1527231 | Adrenomyeloneuropathy | CD1D | 912 | CD1d molecule | P15813 |
| C1527231 | Adrenomyeloneuropathy | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C1527168 | Bonnevie-Ullrich Syndrome | CAT | 847 | catalase | P04040 |
| C1519176 | Salivary Gland Pleomorphic Adenoma | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C1519176 | Salivary Gland Pleomorphic Adenoma | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
