DISEASES

Disease-gene associations mined from literature

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Human genes for congenital nongoitrous hypothyroidism 2

Congenital nongoitrous hypothyroidism 2 [DOID:0070124]

A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.

Synonyms:  congenital nongoitrous hypothyroidism 2,  DOID:0070124,  CHNG2,  congenital hypothyroidism due to thyroid dysgenesis or hypoplasia,  congenital hypothyroidism due to thyroid dysgenesis or hypoplasias

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.