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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 |
|---|---|---|---|---|---|
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C2751584 | Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR2 | 2350 | folate receptor beta | P14207 |
| C1622510 | Neurocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C4041080 | Neurocognitive Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4041080 | Neurocognitive Disorders | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C4041080 | Neurocognitive Disorders | CD38 | 952 | CD38 molecule | P28907 |
| C0027819 | Neuroblastoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C0027819 | Neuroblastoma | B3GNT3 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | Q9Y2A9 |
| C0027819 | Neuroblastoma | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C0027819 | Neuroblastoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0027819 | Neuroblastoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0027819 | Neuroblastoma | GCNT1 | 2650 | glucosaminyl (N-acetyl) transferase 1 | Q02742 |
| C0027819 | Neuroblastoma | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0027819 | Neuroblastoma | GALNT9 | 50614 | polypeptide N-acetylgalactosaminyltransferase 9 | Q9HCQ5 |
| C0027819 | Neuroblastoma | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0027819 | Neuroblastoma | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0027819 | Neuroblastoma | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0027819 | Neuroblastoma | ST8SIA1 | 6489 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Q92185 |
| C0027819 | Neuroblastoma | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0027819 | Neuroblastoma | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
