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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 **176 - 200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	pomk	492773	Danio rerio (zebrafish)
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	pomk	492773	Danio rerio (zebrafish)
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	pomk	492773	Danio rerio (zebrafish)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2.L	444520	Xenopus laevis (African clawed frog)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	pomgnt2.L	444520	Xenopus laevis (African clawed frog)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	pomgnt2	497644	Danio rerio (zebrafish)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	497644	Danio rerio (zebrafish)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0050453	lissencephaly	pomgnt1.L pomgnt1.S pomt1.S pomt2.L	108698684 108699937 414570 495292	Xenopus laevis (African clawed frog)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1	571876	Danio rerio (zebrafish)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1	571876	Danio rerio (zebrafish)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1	571876	Danio rerio (zebrafish)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	pomgnt1	571876	Danio rerio (zebrafish)
DOID:0050453	lissencephaly	pomgnt1 pomt1 pomt2	563878 569769 571876	Danio rerio (zebrafish)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1	100158594	Xenopus tropicalis (tropical clawed frog)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	pomgnt1	100158594	Xenopus tropicalis (tropical clawed frog)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1	100158594	Xenopus tropicalis (tropical clawed frog)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1 st3gal3	100158594 402789	Xenopus tropicalis (tropical clawed frog)
DOID:0050453	lissencephaly	pomgnt1 pomt1 pomt2	100158594 100490100 448433	Xenopus tropicalis (tropical clawed frog)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	poglut1	641495	Danio rerio (zebrafish)

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