DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for congenital leptin deficiency

Congenital leptin deficiency [DOID:0111334]

A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.

Synonyms:  congenital leptin deficiency,  congenital leptin deficiencies,  DOID:0111334,  LEPD,  leptin deficiency or dysfunction ...

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.