DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for neurodegeneration with brain iron accumulation 2a

Neurodegeneration with brain iron accumulation 2a [DOID:0110735]

A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.

Synonyms:  neurodegeneration with brain iron accumulation 2a,  DOID:0110735,  INAD1,  Infantile Neuroaxonal Dystrophy 1,  NBIA2a ...

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.