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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 |
|---|---|---|---|---|---|
| C0311370 | Lupus anticoagulant disorder | CALR | 811 | calreticulin | P27797 |
| C0311370 | Lupus anticoagulant disorder | ANXA5 | 308 | annexin A5 | P08758 |
| C0311370 | Lupus anticoagulant disorder | LCT | 3938 | lactase | P09848 |
| C0311370 | Lupus anticoagulant disorder | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0332915 | Congenital failure of fusion | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0332915 | Congenital failure of fusion | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0333355 | Inflammatory disease of mucous membrane | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | HS3ST2 | 9956 | heparan sulfate-glucosamine 3-sulfotransferase 2 | Q9Y278 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | HPSE | 10855 | heparanase | Q9Y251 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | LGALS3 | 3958 | galectin 3 | P17931 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | STS | 412 | steroid sulfatase | P08842 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0333875 | High-Grade Squamous Intraepithelial Lesions | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0334082 | NEVUS, EPIDERMAL (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0334082 | NEVUS, EPIDERMAL (disorder) | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0334082 | NEVUS, EPIDERMAL (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0334121 | Inflammatory Myofibroblastic Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0334121 | Inflammatory Myofibroblastic Tumor | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0334121 | Inflammatory Myofibroblastic Tumor | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0334121 | Inflammatory Myofibroblastic Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0334121 | Inflammatory Myofibroblastic Tumor | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
