DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive osteopetrosis 4

Autosomal recessive osteopetrosis 4 [DOID:0110944]

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.

Synonyms:  autosomal recessive osteopetrosis 4,  DOID:0110944,  infantile malignant osteopetrosis 2,  OPTB4

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.