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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 |
|---|---|---|---|---|---|
| C0860580 | Medullary carcinoma of breast | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0861352 | Lobular Neoplasia | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0861352 | Lobular Neoplasia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0861352 | Lobular Neoplasia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0861352 | Lobular Neoplasia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0861352 | Lobular Neoplasia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0861352 | Lobular Neoplasia | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0861352 | Lobular Neoplasia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0862030 | Precursor B-lymphoblastic lymphoma/leukemia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0862312 | Epithelioid mesothelioma, malignant | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0862312 | Epithelioid mesothelioma, malignant | VCAN | 1462 | versican | P13611 |
| C0862312 | Epithelioid mesothelioma, malignant | ITLN1 | 55600 | intelectin 1 | Q8WWA0 |
| C0862312 | Epithelioid mesothelioma, malignant | GPC1 | 2817 | glypican 1 | P35052 |
| C0862312 | Epithelioid mesothelioma, malignant | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0869523 | Carditis | DCN | 1634 | decorin | P07585 |
| C0869523 | Carditis | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0870082 | Hyperkeratosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0870082 | Hyperkeratosis | GLA | 2717 | galactosidase alpha | P06280 |
| C0870082 | Hyperkeratosis | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0870082 | Hyperkeratosis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0870082 | Hyperkeratosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0870082 | Hyperkeratosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0870082 | Hyperkeratosis | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0870082 | Hyperkeratosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0870082 | Hyperkeratosis | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
