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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 |
|---|---|---|---|---|---|
| C0002170 | Alopecia | LSS | 4047 | lanosterol synthase | P48449 |
| C0002170 | Alopecia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0002170 | Alopecia | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0002170 | Alopecia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002170 | Alopecia | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0002170 | Alopecia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0002170 | Alopecia | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0002170 | Alopecia | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0002170 | Alopecia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0002170 | Alopecia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0002066 | Alkaptonuria | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0001973 | Alcoholic Intoxication, Chronic | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0001973 | Alcoholic Intoxication, Chronic | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0001973 | Alcoholic Intoxication, Chronic | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0001973 | Alcoholic Intoxication, Chronic | GUSB | 2990 | glucuronidase beta | P08236 |
| C0001973 | Alcoholic Intoxication, Chronic | ARSA | 410 | arylsulfatase A | P15289 |
| C0001973 | Alcoholic Intoxication, Chronic | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0001973 | Alcoholic Intoxication, Chronic | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0001973 | Alcoholic Intoxication, Chronic | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0001973 | Alcoholic Intoxication, Chronic | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0001973 | Alcoholic Intoxication, Chronic | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
| C0001973 | Alcoholic Intoxication, Chronic | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0001973 | Alcoholic Intoxication, Chronic | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0001973 | Alcoholic Intoxication, Chronic | LYZ | 4069 | lysozyme | P61626 |
| C0001973 | Alcoholic Intoxication, Chronic | PC | 5091 | pyruvate carboxylase | P11498 |
