DISEASES

Disease-gene associations mined from literature

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Human genes for Lenz-Majewski hyperostotic dwarfism

Lenz-Majewski hyperostotic dwarfism [DOID:0111507]

A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1.

Synonyms:  Lenz-Majewski hyperostotic dwarfism,  DOID:0111507,  LenzMajewski hyperostotic dwarfism,  Lenz-Majewski hyperostotic dwarfisms,  Lenz-Majewski syndrome ...

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.