Name

CMD1K Gene

cardiomyopathy, dilated 1K (autosomal dominant)

CMD1H Gene

cardiomyopathy, dilated 1H (autosomal dominant)

CMD1F Gene

cardiomyopathy, dilated 1F (autosomal dominant)

CMD1B Gene

cardiomyopathy, dilated 1B (autosomal dominant)

CMD1Q Gene

cardiomyopathy, dilated 1Q (autosomal dominant)

EIG4 Gene

Epilepsy, idiopathic generalized, susceptibility to 4

NPHS2 Gene

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]

EIG3 Gene

Epilepsy, idiopathic generalized, susceptibility to 3

EIG2 Gene

Epilepsy, idiopathic generalized, susceptibility to 2

EIG5 Gene

Epilepsy, idiopathic generalized, susceptibility to, 5

IPOX Gene

Intestinal pseudoobstruction, neuronal, primary idiopathic

IS2 Gene

Scoliosis, idiopathic 2

IS1 Gene

Adolescent idiopathic scoliosis

IS5 Gene

scoliosis, idiopathic, susceptibility to, 5

IS4 Gene

Scoliosis, idiopathic, susceptibility to, 4

IBGC1 Gene

idiopathic basal ganglia calcification 1

IBGC2 Gene

Basal ganglia calcification, idiopathic, 2

EGI Gene

epilepsy, generalized, idiopathic