syndromic hearing loss Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms (Mammalian Phenotype Ontology, MP_0004750)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004750
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Genes

5 gene mutations causing the syndromic hearing loss 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)
LMX1A LIM homeobox transcription factor 1, alpha
MARVELD2 MARVEL domain containing 2