DISEASES

Disease-gene associations mined from literature

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Human genes for Walker-Warburg syndrome

Walker-Warburg syndrome [DOID:0050560]

A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.

Synonyms:  Walker-Warburg syndrome,  DOID:0050560,  WalkerWarburg syndrome,  Walker-Warburg disease,  Walker-Warburg disorder ...

Linkouts:  OMIM #1 #2

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.