DISEASES

Disease-gene associations mined from literature

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Literature associating EXTL3 and metaphyseal dysplasia

EXTL3 [ENSP00000220562]

Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.

Synonyms:  EXTL3,  EXTL3p,  hEXTL3,  B4DG91,  E5RIV6 ...

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.