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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 |
|---|---|---|---|---|---|
| C0452138 | Sensorineural hearing loss, bilateral | ARSA | 410 | arylsulfatase A | P15289 |
| C0452138 | Sensorineural hearing loss, bilateral | PSAP | 5660 | prosaposin | P07602 |
| C0452138 | Sensorineural hearing loss, bilateral | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0452138 | Sensorineural hearing loss, bilateral | ACO2 | 50 | aconitase 2 | Q99798 |
| C0452138 | Sensorineural hearing loss, bilateral | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0452138 | Sensorineural hearing loss, bilateral | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0452138 | Sensorineural hearing loss, bilateral | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C0452138 | Sensorineural hearing loss, bilateral | TECTA | 7007 | tectorin alpha | O75443 |
| C0452138 | Sensorineural hearing loss, bilateral | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0452138 | Sensorineural hearing loss, bilateral | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q96E66 |
| C0018784 | Sensorineural Hearing Loss (disorder) | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0018784 | Sensorineural Hearing Loss (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0018784 | Sensorineural Hearing Loss (disorder) | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0018784 | Sensorineural Hearing Loss (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0018784 | Sensorineural Hearing Loss (disorder) | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0018784 | Sensorineural Hearing Loss (disorder) | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| 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 |
