opisthotonus Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. (Human Phenotype Ontology, HP_0002179)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002880
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Genes

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

Symbol Name
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LAMA2 laminin, alpha 2
MYO5A myosin VA (heavy chain 12, myoxin)