DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked cardiac valvular dysplasia

X-linked cardiac valvular dysplasia [DOID:0111765]

A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28.

Synonyms:  X-linked cardiac valvular dysplasia,  DOID:0111765,  Xlinked cardiac valvular dysplasia,  X-linked cardiac valvular dysplasias,  CVD1 ...

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.