GlyCosmos Portal

GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Database	Last Updated
Alliance of Genome Resources	February 28, 2024
DisGeNET	February 14, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Disease ID	Disease Name	Gene Symbol ▲	Gene ID
DOID:0112171	wrinkly skin syndrome	ATP6V0A2	23545
DOID:0110942	autosomal recessive osteopetrosis 1	ATP6V0A2	23545
DOID:0070134	autosomal recessive cutis laxa type IIA	ATP6V0A2	23545
DOID:0112275	developmental and epileptic encephalopathy 93	ATP6V1A st6gal2	407846 523
DOID:0070129	autosomal recessive cutis laxa type IID	ATP6V1A st6gal2	407846 523
DOID:0080257	autosomal recessive congenital ichthyosis 13	AYR1	854682
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11	B3GALNT2 B3galnt2 B3galnt2 b3galnt2.L b3galnt2 b3galnt2	148789 291212 431874 496641 553716 97884
DOID:1520	colon carcinoma	B3GALT5 CALR Calr HPSE IGF2R Lerp NTNG1 PTEN RECK VCAN	10317 10855 1462 22854 3482 41166 43223 5728 811 8434
DOID:13359	Ehlers-Danlos syndrome	B3GALT6 B3galt6 B3galt6 B4GALT7 B4galt7 B4galt7 DCN Plod b3galt6 b3galt6 b4galt7.L b4galt7.S b4galt7 b4galt7 sqv-2 sqv-3 ﾎｲ3GalTII ﾎｲ4GalT7	100144979 108710989 11285 117592 126792 1634 173635 176382 218271 298690 35848 364675 39265 42991 445022 495369 548849 572324
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2	B3GALT6 B3galt6 B3galt6 B4GALT7 b3galt6.L b3galt6.S b3galt6 b3galt6 sqv-2 ﾎｲ3GalTII	108696563 108697636 11285 117592 126792 173635 298690 35848 548849 572324