EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Osteochondromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756718693
rs756718693
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0206641
Disease:
Osteochondromatosis 		0.010 GeneticVariation BEFREE In summary, our paper provides the primary data of the application of t-NGS in MO molecular diagnosis, including six newly identified mutations (EXT1: c.1843_1846dup, c.1088G>A, c.351C>G, and c.2120C>T and EXT2: c.744-1G>T and c.575T>A), which further enrich the mutation database of MO from the Chinese population. 28690282 2017