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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.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3001 - 3025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	B3GLCT C1GALT1 C1GALT1C1	145173 29071 56913	Homo sapiens (human)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	B3GLCT COLEC10 COLEC11 FKRP FKTN GAD1 GPC3 LARGE1 MASP1 MTMR3 NSDHL POMT1 POMT2 SDC2 TGDS TNKS2 TNKS	10584 10585 145173 2218 23483 2571 2719 29954 50814 5648 6383 78989 79147 80351 8658 8897 9215	Homo sapiens (human)
DOID:0080073	spina bifida occulta	B3GLCT COLEC10 COLEC11 LFNG MASP1	10584 145173 3955 5648 78989	Homo sapiens (human)
DOID:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	B3GLCT CRPPA CYP1B1 FKRP FKTN LARGE1 POMT1 POMT2 PTGDS	10585 145173 1545 2218 29954 5730 729920 79147 9215	Homo sapiens (human)
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3galnt2	291212	Rattus norvegicus (Norway rat)
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	B3galnt2	97884	Mus musculus (house mouse)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	B3galt6 B4galt7	117592 218271	Mus musculus (house mouse)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	117592	Mus musculus (house mouse)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	117592	Mus musculus (house mouse)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	B3galt6 B4galt7	298690 364675	Rattus norvegicus (Norway rat)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3galt6	298690	Rattus norvegicus (Norway rat)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3galt6	298690	Rattus norvegicus (Norway rat)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	B3gat1 Bad Chi3l1 Tnf	117108 24835 64639 89824	Rattus norvegicus (Norway rat)
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	B3gat1 Bad Chi3l1 Il18r1 Tnf	12015 12654 16182 21926 76898	Mus musculus (house mouse)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3gat2	280645	Mus musculus (house mouse)
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3gat2	64544	Rattus norvegicus (Norway rat)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	293722	Rattus norvegicus (Norway rat)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3gat3	72727	Mus musculus (house mouse)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	381694	Mus musculus (house mouse)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	689765	Rattus norvegicus (Norway rat)
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	B4GALNT1 CANX CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 821 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:5003	eunuchism	B4GALNT1 CD44 CD55 CTNS CYP2R1 G6PC3 HS6ST1 NT5E SEMA7A STS	120227 1497 1604 2583 412 4907 8482 92579 9394 960	Homo sapiens (human)

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