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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 |
|---|---|---|---|---|---|
| C0276496 | Familial Alzheimer Disease (FAD) | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0276496 | Familial Alzheimer Disease (FAD) | PRNP | 5621 | prion protein | F7VJQ1 |
| C0276496 | Familial Alzheimer Disease (FAD) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0276496 | Familial Alzheimer Disease (FAD) | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0276535 | AIDS with Kaposi's sarcoma | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0276535 | AIDS with Kaposi's sarcoma | SIGLEC1 | 6614 | sialic acid binding Ig like lectin 1 | Q9BZZ2 |
| C0276651 | Aspergilloma | CAT | 847 | catalase | P04040 |
| C0277528 | Traveler's diarrhea | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0277528 | Traveler's diarrhea | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0277919 | Postthrombotic Syndrome | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0278061 | Abnormal mental state | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0278061 | Abnormal mental state | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0278061 | Abnormal mental state | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0278076 | Behavioral tic | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0278510 | Childhood Medulloblastoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0278510 | Childhood Medulloblastoma | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0278510 | Childhood Medulloblastoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0278510 | Childhood Medulloblastoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0278510 | Childhood Medulloblastoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0278510 | Childhood Medulloblastoma | TREH | 11181 | trehalase | O43280 |
| C0278510 | Childhood Medulloblastoma | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0278510 | Childhood Medulloblastoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0278510 | Childhood Medulloblastoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0278510 | Childhood Medulloblastoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0278510 | Childhood Medulloblastoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
