Glyco-Diseases Gene Database (GDGDB)

GDGDB ID

51

Disease names	Congenital Disorder of Glycosylation type IId CDGIId
Pathogenesis	Hypotonia, hydrocephalus, myopathy, coagulation abnormalities Glycoforum -Beyond Glycogenes, Dr. Hudson H. Freeze http://www.glycoforum.gr.jp/science/glycogenes/08/08E.html
OMIM phenotype	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
OMIM phenotype mim number	607091

Gene names	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Official gene symbol	B4GALT1
Alias gene names	beta 1,4-galactosyltransferase 1
Alias gene symbol	DKFZp686N19253 beta4Gal-T1 MGC50983 GTB B4GAL-T1 B4GALT1 GGTB2 GT1
Locus	9p13
Link	NCBI Gene : http://www.ncbi.nlm.nih.gov/gene/2683 GGDB : http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALT1