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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 |
|---|---|---|---|---|---|
| C0206701 | Cystadenocarcinoma, Serous | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0206701 | Cystadenocarcinoma, Serous | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0206701 | Cystadenocarcinoma, Serous | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0206701 | Cystadenocarcinoma, Serous | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0206701 | Cystadenocarcinoma, Serous | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0206701 | Cystadenocarcinoma, Serous | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0206701 | Cystadenocarcinoma, Serous | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0206701 | Cystadenocarcinoma, Serous | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0206699 | Cystadenocarcinoma, Mucinous | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0346249 | Cystadenocarcinoma of kidney | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0266667 | Cyclocephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0266667 | Cyclocephaly | LSS | 4047 | lanosterol synthase | P48449 |
| C0221023 | Cyclic neutropenia | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0221023 | Cyclic neutropenia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0221023 | Cyclic neutropenia | CALR | 811 | calreticulin | P27797 |
| C0221023 | Cyclic neutropenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0221023 | Cyclic neutropenia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0221023 | Cyclic neutropenia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0221023 | Cyclic neutropenia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0268353 | Cutis laxa, x-linked | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0268353 | Cutis laxa, x-linked | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
| C3665335 | Cutis laxa, autosomal recessive | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C3665335 | Cutis laxa, autosomal recessive | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0268355 | Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0268355 | Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
