| UMLS CUI | C0011053 |
| UMLS Term | Deafness |
| MeSH ID | D003638 |
| MeSH Term | Deafness |
| Disease Classes |
Otorhinolaryngologic Diseases Nervous System Diseases Pathological Conditions, Signs and Symptoms |
| Gene Symbol | Description | Entrez ID | Uniprot ID | Chromosomal Location |
|---|---|---|---|---|
|
JAG1 |
jagged 1 |
182 |
P78504 |
chr20: 10,637,684-10,674,107 |
|
SMAD4 |
SMAD family member 4 |
4089 |
Q13485 |
chr18: 51,028,394-51,085,045 |
|
MITF |
microphthalmia-associated transcription factor |
4286 |
O75030 |
chr3: 69,739,435-69,968,337 |
|
POLD1 |
polymerase (DNA directed), delta 1, catalytic subunit |
5424 |
P28340 |
chr19: 50,384,204-50,418,018 |
|
BDNF |
brain-derived neurotrophic factor |
627 |
P23560 |
chr11: 27,654,893-27,722,058 |