DISEASES

Disease-gene associations mined from literature

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Human genes for multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome [DOID:0080503]

A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency.

Synonyms:  multiple congenital anomalies-hypotonia-seizures syndrome,  DOID:0080503,  multiple congenital anomalieshypotoniaseizures syndrome,  multiple congenital anomalies-hypotonia-seizures disease,  multiple congenital anomalies-hypotonia-seizures disorder ...

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.