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: rs140075817
rs140075817
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
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
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs527624522
rs527624522
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs772690312
rs772690312
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		T 0.700 CausalMutation CLINVAR