Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 101927631
Gene Symbol: ADNP-AS1
ADNP-AS1
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.100 CausalMutation CLINVAR Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis. 26729507

2016
Entrez Id: 101927631
Gene Symbol: ADNP-AS1
ADNP-AS1
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		0.100 CausalMutation CLINVAR Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. 23856421

2013