Disease Description

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