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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 |
|---|---|---|---|---|---|
| C0008354 | Cholera | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0008370 | Cholestasis | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0008370 | Cholestasis | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0008370 | Cholestasis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0008370 | Cholestasis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0008370 | Cholestasis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0008370 | Cholestasis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0008370 | Cholestasis | LYZ | 4069 | lysozyme | P61626 |
| C0008370 | Cholestasis | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0008370 | Cholestasis | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0008370 | Cholestasis | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0008370 | Cholestasis | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0008370 | Cholestasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0008370 | Cholestasis | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0008370 | Cholestasis | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0008370 | Cholestasis | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0008370 | Cholestasis | UGT2B4 | 7363 | UDP glucuronosyltransferase family 2 member B4 | P06133 |
| C0008370 | Cholestasis | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0008370 | Cholestasis | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0008370 | Cholestasis | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0008370 | Cholestasis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0008370 | Cholestasis | MBOAT1 | 154141 | membrane bound O-acyltransferase domain containing 1 | Q6ZNC8 |
| C0008370 | Cholestasis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0008370 | Cholestasis | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0008370 | Cholestasis | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
