DISEASES - primary autosomal recessive microcephaly 17

Human genes for primary autosomal recessive microcephaly 17

Primary autosomal recessive microcephaly 17 [DOID:0070288]

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.

Synonyms: primary autosomal recessive microcephaly 17, DOID:0070288, MCPH17

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.