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:28	endocrine system disease	B4GALT1 B4galt1 b4galt1.1 b4galt1.2 b4galt1 b4galt1l bre-4 ﾎｲ4GalNAcTA	100145518 14595 190668 2683 36585 549418 550425 768123
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7 B4galt7 B4galt7 b4galt7.L b4galt7.S b4galt7 b4galt7 sqv-3 ﾎｲ4GalT7	100144979 108710989 11285 176382 218271 364675 42991 445022 495369
DOID:0050560	Walker-Warburg syndrome	B4GAT1 B4gat1 B4gat1 CG15651 CG3253 CRPPA FKRP FKTN Fkrp Fkrp Fktn Fktn PMT2 PMT3 PMT4 PMT6 POMGNT1 POMT1 POMT2 Pomgnt1 Pomgnt1 Pomt1 Pomt1 Pomt2 Pomt2 RXYLT1 Rxylt1 Rxylt1 T07A5.1 T07D3.4 W02B3.4 b4gat1 b4gat1 fkrp.L fkrp fkrp fktn.S fktn fktn pomgnt1.L pomgnt1.S pomgnt1 pomgnt1 pomt1.S pomt1 pomt1 pomt2.L pomt2 pomt2 rt rxylt1 rxylt1 tw	100006345 100124956 100145309 100145540 100158594 100170600 100490100 101669768 10329 10585 108698503 108698684 108699937 108902 11041 173469 188207 189104 216395 217734 2218 243853 246179 293667 29954 299841 308390 31024 362520 362567 37375 37861 39297 414570 448433 495292 495324 55624 557187 563878 569769 571426 571876 68273 688673 729920 79147 84430 851210 853113 853608 854499 99011
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	B4GAT1 B4gat1 B4gat1 CG15651 CG3253 DAG1 Dg FKRP FKTN Fkrp Fkrp Fktn Fktn INPP5K Inpp5k LARGE1 Large1 Large1 PMT4 POMGNT1 POMT1 Pomgnt1 Pomgnt1 Pomt1 Pomt1 T07A5.1 T07D3.4 W02B3.4 b4gat1 b4gat1 bgnt-1.4 bgnt-1.5 fkrp fkrp fktn fktn inpp-5K large1 large1 lge-1 pomgnt1 pomgnt1 pomt1.S pomt1 pomt1 rt	100006345 100124956 100145309 100158594 100170600 100498555 101669768 10585 108699937 108902 11041 1605 16795 173469 182795 183643 187206 188207 189104 19062 2218 243853 246179 293667 308390 3565692 361368 362520 362567 36773 37375 37861 39297 446213 448433 51763 55624 569769 571426 571876 68273 79147 84430 853608 9215 99011
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13	B4GAT1 B4gat1 B4gat1 CG3253 b4gat1.L b4gat1 b4gat1 bgnt-1.4 bgnt-1.5	100170600 101669768 108713949 108902 11041 182795 293667 3565692 37861
DOID:0014667	disease of metabolism	BAAT DLD EPHX1 Ephx1 Ephx1 HSPA8 Hspa8 Hspa8 LDHA LDHAL6A LDHAL6B LDHB LDHC PDHA1 PDHA2 PFKL PFKM PFKP PKLR PKM PTEN TEP1	13849 15481 160287 1738 2052 24468 25315 3312 3939 3945 3948 5160 5161 5211 5213 5214 5313 5315 570 5728 855595 92483
DOID:10584	retinitis pigmentosa	BCAN CA4 CAT HK1 HKDC1 KL Kl Kl PDE2 PDE6A PDE6B PDE6G POMGNT1 PRPS1 PTEN Pde6b Pde6g Pomgnt1 Pomgnt1 RPE65 Rpe65 Rpe65 TEP1 eys pomgnt1.L pomgnt1.S pomgnt1 pomgnt1 rpe65a rpe65b rpe65c st3gal3	100002865 100004076 100158594 16591 18587 18588 19892 3098 362567 393724 402789 414570 493780 495292 5145 5148 5158 55624 5631 571876 5728 6121 63827 68273 762 80201 83504 847 854542 855595 89826 9365
DOID:9269	maple syrup urine disease	BCKDHA BCKDHB DBT DLD	1629 1738 593 594
DOID:7997	thyrotoxicosis	BI4 ICAM1	3383 854582
DOID:0112257	hydroxykynureninuria	BNA5 KYNU Kynu Kynu kynu-1	116682 180883 70789 850933 8942