Harmonizome 3.0

Adolescent idiopathic scoliosis

nephronophthisis 3 (adolescent)

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]

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

scoliosis, idiopathic, susceptibility to, 5

Scoliosis, idiopathic, susceptibility to, 4

idiopathic basal ganglia calcification 1

Basal ganglia calcification, idiopathic, 2

epilepsy, generalized, idiopathic