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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 |
|---|---|---|---|---|---|
| C0917713 | Becker Muscular Dystrophy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0917713 | Becker Muscular Dystrophy | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0917713 | Becker Muscular Dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0917713 | Becker Muscular Dystrophy | GK | 2710 | glycerol kinase | P32189 |
| C0917713 | Becker Muscular Dystrophy | RGN | 9104 | regucalcin | Q15493 |
| C0917713 | Becker Muscular Dystrophy | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0887833 | Carcinoma, Pancreatic Ductal | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0887833 | Carcinoma, Pancreatic Ductal | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0887833 | Carcinoma, Pancreatic Ductal | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0887833 | Carcinoma, Pancreatic Ductal | UGP2 | 7360 | UDP-glucose pyrophosphorylase 2 | Q16851 |
| C0879257 | Hereditary Papillary Renal Carcinoma | FH | 2271 | fumarate hydratase | P07954 |
| C0878773 | Overactive Bladder | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0878773 | Overactive Bladder | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0878684 | SHORT syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0878684 | SHORT syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0878684 | SHORT syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0878684 | SHORT syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0878681 | Dent's disease | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0878681 | Dent's disease | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0878681 | Dent's disease | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0878681 | Dent's disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
