GlyCosmos Portal

Homo sapiens (human)

Summary

Gene Symbol	Gene Symbol Aliases	Gene ID	Disease Name ▼
LIPA	CESD LAL Wolman disease lysosomal acid lipase sterol esterase	3988	Wolman disease
C1GALT1C1	C1GALT2 COSMC	29071	Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)
CHSY1	CSS1 KIAA0990	22856	Temtamy preaxial brachydactyly syndrome
HEXA	GM2 gangliosidosis Tay Sachs disease beta-hexosaminidase subunit alpha	3073	Tay-Sachs disease Tay-Sachs disease, infantile form Tay-Sachs disease, late-onset forms
TUSC3	MGC13453 MRT7 MagT2 Magnesium uptake/transporter TUSC3 N33 OST3A SLC58A2 oligosaccharyltransferase 3 homolog A (S. cerevisiae)	7991	TUSC3-CDG
TMEM165	GDT1 SLC64A1 TMPT27 TPA regulated locus TPARL	55858	TMEM165-CDG
CHST3	C6ST C6ST1 chondroitin 6 sulfotransferase 1	9469	Spondyloepiphyseal dysplasia with congenital joint dislocations
PAPSS2	ATPSK2 PAPS synthase 2 adenosine 5'-phosphosulfate kinase bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	9060	Spondyloepimetaphyseal dysplasia, pakistani type
NEU1	sialidase-1	4758	Sialidosis Sialidosis type I Sialidosis type II Sialidosis type II, congenital form Sialidosis type II, infantile form Sialidosis type II, juvenile form
NAGA	D22S674 alpha-galactosidase B	4668	Schindler disease, type I Schindler disease, type II