decreased creatine kinase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine (Mammalian Phenotype Ontology, MP_0020281)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0020281
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Genes

4 gene mutations causing the decreased creatine kinase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DFNB31 deafness, autosomal recessive 31
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
TCEAL5 transcription elongation factor A (SII)-like 5