DISEASES

Disease-gene associations mined from literature

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Human genes for nonphotosensitive trichothiodystrophy 4

Nonphotosensitive trichothiodystrophy 4 [DOID:0050528]

A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.

Synonyms:  nonphotosensitive trichothiodystrophy 4,  DOID:0050528,  AMISH BRITTLE HAIR BRAIN SYNDROME,  BIDS syndrome,  HAIR-BRAIN SYNDROME ...

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.