GeneSet Information

Tier II GS240894 • [MeSH] Tuberous Sclerosis : D014402

DESCRIPTION:

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. Generated by gene2mesh v. 1.1.1

LABEL:

Tuberous Sclerosis

SCORE TYPE:

Binary

DATE ADDED:

2015-09-11

DATE UPDATED:

2020-05-06

SPECIES:

No publication information is associated with this GeneSet.

Annotation Information



No annotations are associated with this GeneSet.

Gene List • 34 Genes

Uploaded As Gene Symbol Homology Score Priority LinkOuts Emphasis