DISEASES

Disease-gene associations mined from literature

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Literature associating PMM2 and cerebellar hypoplasia

PMM2 [ENSP00000268261]

Phosphomannomutase 2; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions; HAD Asp-based non-protein phosphatases

Synonyms:  LOC102725528,  PMM2p,  hPMM2,  B7Z419,  B7Z6R0 ...

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.