DISEASES

Disease-gene associations mined from literature

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Human genes for isolated growth hormone deficiency type III

Isolated growth hormone deficiency type III [DOID:0060875]

An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1.

Synonyms:  isolated growth hormone deficiency type III,  DOID:0060875,  isolated growth hormone deficiency type IIIs,  congenital IGHD type III,  congenital isolated GH deficiency type III ...

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.