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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 |
|---|---|---|---|---|---|
| C0162429 | Malnutrition | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0162429 | Malnutrition | ACLY | 47 | ATP citrate lyase | P53396 |
| C0162429 | Malnutrition | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0162429 | Malnutrition | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0162429 | Malnutrition | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0162429 | Malnutrition | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0162429 | Malnutrition | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0796032 | Malpuech facial clefting syndrome | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0796032 | Malpuech facial clefting syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0796032 | Malpuech facial clefting syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0021367 | Mammary Ductal Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1458155 | Mammary Neoplasms | ST6GALNAC2 | 10610 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Q9UJ37 |
| C1458155 | Mammary Neoplasms | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C1458155 | Mammary Neoplasms | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1458155 | Mammary Neoplasms | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1458155 | Mammary Neoplasms | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C1458155 | Mammary Neoplasms | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C1458155 | Mammary Neoplasms | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C1458155 | Mammary Neoplasms | GALNT16 | 57452 | polypeptide N-acetylgalactosaminyltransferase 16 | Q8N428 |
| C1458155 | Mammary Neoplasms | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C1458155 | Mammary Neoplasms | ST8SIA1 | 6489 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Q92185 |
| C1458155 | Mammary Neoplasms | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C1458155 | Mammary Neoplasms | B3GNT5 | 84002 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 | Q9BYG0 |
| C1458155 | Mammary Neoplasms | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C1458155 | Mammary Neoplasms | GLB1 | 2720 | galactosidase beta 1 | P16278 |
