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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) | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0018784 | Sensorineural Hearing Loss (disorder) | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0018784 | Sensorineural Hearing Loss (disorder) | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0018784 | Sensorineural Hearing Loss (disorder) | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0452138 | Sensorineural hearing loss, bilateral | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0452138 | Sensorineural hearing loss, bilateral | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| 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 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0699739 | Sensory Neuropathy, Hereditary | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C1691779 | Sensory hearing loss | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0151313 | Sensory neuropathy | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0151313 | Sensory neuropathy | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
