DISEASES

Disease-gene associations mined from literature

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Human genes for congenital hypotrichosis with juvenile macular dystrophy

Congenital hypotrichosis with juvenile macular dystrophy [DOID:0110711]

A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.

Synonyms:  congenital hypotrichosis with juvenile macular dystrophy,  congenital hypotrichosis with juvenile macular dystrophies,  DOID:0110711,  Hjmd,  hypotrichosis with cone-rod dystrophy ...

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.