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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 |
|---|---|---|---|---|---|
| C0345916 | Neoplasm of ampulla of Vater | CALR | 811 | calreticulin | P27797 |
| C1263892 | Neoplasm of cauda equina | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0345832 | Neoplasm of small intestine | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0345832 | Neoplasm of small intestine | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0345832 | Neoplasm of small intestine | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027651 | Neoplasms | GALNT5 | 11227 | polypeptide N-acetylgalactosaminyltransferase 5 | Q7Z7M9 |
| C0027651 | Neoplasms | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0027651 | Neoplasms | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0027651 | Neoplasms | CHST4 | 10164 | carbohydrate sulfotransferase 4 | Q8NCG5 |
| C0027651 | Neoplasms | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0027651 | Neoplasms | ST6GALNAC2 | 10610 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Q9UJ37 |
| C0027651 | Neoplasms | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0027651 | Neoplasms | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0027651 | Neoplasms | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0027651 | Neoplasms | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0027651 | Neoplasms | B3GNT2 | 10678 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | Q9NY97 |
| C0027651 | Neoplasms | GALNT13 | 114805 | polypeptide N-acetylgalactosaminyltransferase 13 | Q8IUC8 |
| C0027651 | Neoplasms | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0027651 | Neoplasms | PIGK | 10026 | phosphatidylinositol glycan anchor biosynthesis class K | Q92643 |
| C0027651 | Neoplasms | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0027651 | Neoplasms | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
