DISEASES

Disease-gene associations mined from literature

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Literature associating C1GALT1C1 and hypersensitivity vasculitis

C1GALT1C1 [ENSP00000304364]

Core 1 beta3-galactosyltransferase-specific molecular chaperone; Probable chaperone required for the generation of 1 O- glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).

Synonyms:  C1GALT1C1,  Q96EU7,  C1GALT2,  COSMC,  HSPC067 ...

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.