DISEASES

Disease-gene associations mined from literature

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Human genes for Bamforth-Lazarus syndrome

Bamforth-Lazarus syndrome [DOID:0050655]

A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.

Synonyms:  Bamforth-Lazarus syndrome,  BamforthLazarus syndrome,  Bamforth-Lazarus disease,  Bamforth-Lazarus disorder,  Bamforth-Lazarus syndromes ...

Linkouts:  OMIM

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.