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]

From DisGeNET Gene-Disease Associations

genes associated with the disease Adolescent Gynecomastia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gynecomastia from the curated CTD Gene-Disease Associations dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease gynecomastia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term gynecomastia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From HPO Gene-Disease Associations

genes associated with the gynecomastia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Gynecomastia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the pseudohermaphroditism, male, with gynecomastia phenotype from the curated OMIM Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Gynecomastia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Idiopathic Gynecomastia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Infant Gynecomastia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Pathological Gynecomastia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Gynecomastia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type from the curated CTD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease adolescent-onset antisocial behavior in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term adolescent in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Adolescent Psychology phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the cystinosis, late-onset juvenile or adolescent nephropathic phenotype from the curated OMIM Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Adolescent Idiopathic Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Juvenile And Adolescent Idiopathic Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Adolescent - Emotional Problem in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Adolescent Antisocial Behaviour in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Adolescent Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Adolescent Overweight in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Adolescent idiopathic scoliosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.