DISEASES - primary autosomal recessive microcephaly 8

Human genes for primary autosomal recessive microcephaly 8

Primary autosomal recessive microcephaly 8 [DOID:0070282]

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.

Synonyms: primary autosomal recessive microcephaly 8, DOID:0070282, MCPH8

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.