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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 **6201 - 6225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	Plod beta3GalTII beta4GalT7	35848 39265 42991	Drosophila melanogaster (fruit fly)
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod	39265	Drosophila melanogaster (fruit fly)
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod	39265	Drosophila melanogaster (fruit fly)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Pmm2	39436	Drosophila melanogaster (fruit fly)
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	Pnp Umps	18950 22247	Mus musculus (house mouse)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	Pnp	18950	Mus musculus (house mouse)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Pofut1 Poglut1	140484 224143	Mus musculus (house mouse)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Pofut1 Poglut1	288091 311551	Rattus norvegicus (Norway rat)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	Pofut2	309686	Rattus norvegicus (Norway rat)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	Pofut2	80294	Mus musculus (house mouse)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Poglut1 Pomt2	217734 224143	Mus musculus (house mouse)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Poglut1 Pomt2	288091 688673	Rattus norvegicus (Norway rat)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	288091	Rattus norvegicus (Norway rat)
DOID:0050453	lissencephaly	Pomgnt1 Pomt1 Pomt2	362567 688673 84430	Rattus norvegicus (Norway rat)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	Pomgnt1	362567	Rattus norvegicus (Norway rat)
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	362567	Rattus norvegicus (Norway rat)
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	362567	Rattus norvegicus (Norway rat)
DOID:0050453	lissencephaly	Pomgnt1 Pomt1 Pomt2	217734 68273 99011	Mus musculus (house mouse)
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	68273	Mus musculus (house mouse)
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	68273	Mus musculus (house mouse)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	Pomgnt1	68273	Mus musculus (house mouse)
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	215494	Mus musculus (house mouse)
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	215494	Mus musculus (house mouse)
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	316091	Rattus norvegicus (Norway rat)

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