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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 |
|---|---|---|---|---|---|
| C0018784 | Sensorineural Hearing Loss (disorder) | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0018784 | Sensorineural Hearing Loss (disorder) | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0018784 | Sensorineural Hearing Loss (disorder) | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0018784 | Sensorineural Hearing Loss (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GLA | 2717 | galactosidase alpha | P06280 |
| C0018784 | Sensorineural Hearing Loss (disorder) | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0018784 | Sensorineural Hearing Loss (disorder) | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0018784 | Sensorineural Hearing Loss (disorder) | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0018784 | Sensorineural Hearing Loss (disorder) | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0018784 | Sensorineural Hearing Loss (disorder) | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0018784 | Sensorineural Hearing Loss (disorder) | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0018784 | Sensorineural Hearing Loss (disorder) | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0018784 | Sensorineural Hearing Loss (disorder) | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0018784 | Sensorineural Hearing Loss (disorder) | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0018784 | Sensorineural Hearing Loss (disorder) | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0018784 | Sensorineural Hearing Loss (disorder) | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0018784 | Sensorineural Hearing Loss (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0018784 | Sensorineural Hearing Loss (disorder) | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
