DISEASES

Disease-gene associations mined from literature

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Literature associating CHPF2 and Coffin-Siris syndrome 3

CHPF2 [ENSP00000035307]

Chondroitin sulfate glucuronyltransferase; Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity.

Synonyms:  CHPF2,  CHPF2p,  hCHPF2,  C9JZF7,  G5E9W2 ...

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.