DISEASES - autosomal dominant intellectual developmental disorder 43

Human genes for autosomal dominant intellectual developmental disorder 43

Autosomal dominant intellectual developmental disorder 43 [DOID:0070073]

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of HIVEP2 on chromosome 6q24.2.

Synonyms: autosomal dominant intellectual developmental disorder 43, DOID:0070073, autosomal dominant mental retardation 43, autosomal dominant non-syndromic intellectual disability 43, MRD43 ...

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.