EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376292686
rs376292686
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		0.700 GeneticVariation UNIPROT Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 26246518 2015