DISEASES

Disease-gene associations mined from literature

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Literature associating GMPPB and autosomal recessive limb-girdle muscular dystrophy type 2Q

GMPPB [ENSP00000309092]

GTP-mannose-1-phosphate guanylyltransferase beta; Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids; Belongs to the transferase hexapeptide repeat family.

Synonyms:  GMPPB,  AMIGO3,  A0A024R2X1,  A0A024R329,  AMIGO3p ...

Linkouts:  STRING  Pharos  UniProt  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.