hyperekplexia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005604
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Genes

5 gene mutations causing the hyperekplexia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ESRRG estrogen-related receptor gamma
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5