| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms (Mammalian Phenotype Ontology, MP_0006330) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006330 |
| Similar Terms | |
| Downloads & Tools |
6 gene mutations causing the syndromic hearing impairment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| ATP2B2 | ATPase, Ca++ transporting, plasma membrane 2 |
| EMX2 | empty spiracles homeobox 2 |
| IGF1 | insulin-like growth factor 1 (somatomedin C) |
| KCNQ1 | potassium channel, voltage gated KQT-like subfamily Q, member 1 |
| LMX1A | LIM homeobox transcription factor 1, alpha |
| MARVELD2 | MARVEL domain containing 2 |
