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:3534	Lafora disease	EPM2A Epm2a Epm2a GSY1 GSY2 GYS1 GYS2 Glys Gys1 Gys1 Gys2 Gys2 gsy-1 gys1 gys1 gys2	100490155 114005 13853 14936 174924 232493 25623 2997 2998 373082 394155 41823 690987 7957 850569 850962
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2	PMT2 PMT3 PMT6 POMT2 Pomt2 Pomt2 pomt2.L pomt2 pomt2 tw	100490100 108698684 217734 29954 31024 563878 688673 851210 853113 854499
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2	PMT2 PMT3 PMT6 POMT2 Pomt2 Pomt2 pomt2.L pomt2 pomt2 tw	100490100 108698684 217734 29954 31024 563878 688673 851210 853113 854499
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	KL PMT2 PMT3 PMT6 POMT2 Pomt2 Pomt2 pomt2.L pomt2 pomt2 tw	100490100 108698684 217734 29954 31024 563878 688673 851210 853113 854499 9365
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	KL PMT2 PMT3 PMT6 POGLUT1 POMT2 Poglut1 Poglut1 Pomt2 Pomt2 poglut1 pomt2.L pomt2 pomt2 rumi tw	100490100 108698684 217734 224143 288091 29954 31024 326122 563878 56983 641495 688673 851210 853113 854499 9365
DOID:0112374	muscular dystrophy-dystroglycanopathy	DAG1 Dg GMPPB Gmppb PMT2 PMT3 PMT4 PMT6 POMT1 POMT2 Pomt1 Pomt1 Pomt2 Pomt2 pomt1 pomt1 pomt2 pomt2 rt tw	100490100 10585 1605 217734 29925 29954 31024 36773 39297 40599 448433 563878 569769 688673 84430 851210 853113 853608 854499 99011
DOID:14735	hereditary angioedema	HS3ST6 Hs3st-B Hs3st6 Hs3st6 hs3st6.L hs3st6 hst-3.2 si	100489739 108701670 328779 32918 3564879 64711 684979 797517
DOID:0111063	hyperphosphatemic familial tumoral calcinosis	GALNT3 Galnt3 Galnt3 KL Kl Kl Pgant1 Pgant3 galnt3	100488466 14425 16591 2591 35627 366061 36717 83504 9365
DOID:0050571	congenital disorder of glycosylation type II	ATP6AP2 ATP6AP2 EDEM3 Edem2 Edem3 GALNT2 Galnt2 Galnt2 Pgant2 SLC35C1 SLC37A4 TMEM165 edem3.L galnt2.L galnt2.S galnt2 galnt2 gly-4 nac	100488284 101027298 10159 108148 108716128 180302 2542 2590 292090 33556 34714 40981 41104 443907 55343 55858 570248 66967 80267
DOID:0060050	autoimmune disease of blood	C1GALT1 C1GalTA C1galt1 C1galt1 C38H2.2 XB5871033 c1galt1 c1galt1a c1galt1la c1galt1lb	100487794 100496837 176455 337131 34215 555344 557675 56913 65044 94192