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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 |
|---|---|---|---|---|---|
| C0155299 | Coloboma of optic disc | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3543867 | Collodion Fetus | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | MGAT3 | 4248 | beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase | Q09327 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | FH | 2271 | fumarate hydratase | P07954 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | ANXA4 | 307 | annexin A4 | P09525 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | MPPE1 | 65258 | metallophosphoesterase 1 | Q53F39 |
| C0009326 | Collagen Diseases | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0009326 | Collagen Diseases | SELE | 6401 | selectin E | P16581 |
| C0400821 | Colitis, Microscopic | CD14 | 929 | CD14 molecule | P08571 |
| C0400821 | Colitis, Microscopic | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0400822 | Colitis, Lymphocytic | CHGA | 1113 | chromogranin A | P10645 |
