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 |
---|---|---|---|---|---|
C0010701 | Phyllodes Tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0010701 | Phyllodes Tumor | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
C0010701 | Phyllodes Tumor | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
C0010701 | Phyllodes Tumor | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
C0010701 | Phyllodes Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0010701 | Phyllodes Tumor | FASN | 2194 | fatty acid synthase | P49327 |
C0010701 | Phyllodes Tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0010701 | Phyllodes Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0010701 | Phyllodes Tumor | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C0236642 | Pick Disease of the Brain | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
C0236642 | Pick Disease of the Brain | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C0236642 | Pick Disease of the Brain | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
C0236642 | Pick Disease of the Brain | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0236642 | Pick Disease of the Brain | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
C0236642 | Pick Disease of the Brain | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
C0236642 | Pick Disease of the Brain | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
C0236642 | Pick Disease of the Brain | PRNP | 5621 | prion protein | P04156 |
C0236642 | Pick Disease of the Brain | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
C0236642 | Pick Disease of the Brain | PRNP | 5621 | prion protein | F7VJQ1 |
C0080024 | Piebaldism | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0080024 | Piebaldism | CALR | 811 | calreticulin | P27797 |
C0031900 | Pierre Robin Syndrome | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
C0031900 | Pierre Robin Syndrome | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
C0031900 | Pierre Robin Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C1271398 | Pigment dispersion syndrome (disorder) | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
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Last updated: August 19, 2024