Harmonizome 3.0

cardiomyopathy, restrictive 1A (autosomal dominant)

cardiomyopathy, familial restrictive, 2

cardiomyopathy, restrictive 2A (autosomal recessive)

cardiomyopathy, dilated 1K (autosomal dominant)

cardiomyopathy, dilated 1H (autosomal dominant)

cardiomyopathy, dilated 1F (autosomal dominant)

cardiomyopathy, dilated 1B (autosomal dominant)

cardiomyopathy, dilated 1Q (autosomal dominant)

cardiomyopathy associated 5

Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

cardiomyopathy, restrictive 3A (X-linked)

Cardiomyopathy, familial hypertrophic, 21

Epilepsy, idiopathic generalized, susceptibility to 4

nephrosis 2, idiopathic, steroid-resistant (podocin)

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Epilepsy, idiopathic generalized, susceptibility to 3

Epilepsy, idiopathic generalized, susceptibility to 2

Epilepsy, idiopathic generalized, susceptibility to, 5

Intestinal pseudoobstruction, neuronal, primary idiopathic

Scoliosis, idiopathic 2

Adolescent idiopathic scoliosis

scoliosis, idiopathic, susceptibility to, 5

Scoliosis, idiopathic, susceptibility to, 4

idiopathic basal ganglia calcification 1

Basal ganglia calcification, idiopathic, 2

epilepsy, generalized, idiopathic