DISEASES

Disease-gene associations mined from literature

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Human genes for congenital nongoitrous hypothyroidism 4

Congenital nongoitrous hypothyroidism 4 [DOID:0070123]

A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.

Synonyms:  congenital nongoitrous hypothyroidism 4,  DOID:0070123,  CHNG4,  isolated thyrotropin deficiency,  isolated thyrotropin deficiencies

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.