DISEASES - autosomal dominant mental retardation 48

Human genes for autosomal dominant mental retardation 48

Autosomal dominant mental retardation 48 [DOID:0080235]

An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.

Synonyms: autosomal dominant mental retardation 48, DOID:0080235

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.