DISEASES - autosomal dominant intellectual developmental disorder 38

Human genes for autosomal dominant intellectual developmental disorder 38

Autosomal dominant intellectual developmental disorder 38 [DOID:0070068]

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33.

Synonyms: autosomal dominant intellectual developmental disorder 38, DOID:0070068, autosomal dominant mental retardation 38, autosomal dominant non-syndromic intellectual disability 38, MRD38 ...

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.