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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 **51 - 75** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	ugt-61 ugt-62	175591 185500	Caenorhabditis elegans
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	tw	31024	Drosophila melanogaster (fruit fly)
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	tw	31024	Drosophila melanogaster (fruit fly)
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	tw	31024	Drosophila melanogaster (fruit fly)
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	trol	45320	Drosophila melanogaster (fruit fly)
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	trol	45320	Drosophila melanogaster (fruit fly)
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	trol	45320	Drosophila melanogaster (fruit fly)
DOID:13481	thanatophoric dysplasia	trol	45320	Drosophila melanogaster (fruit fly)
DOID:9282	ocular hypertension	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	tpi1a tpi1b	192309 560753	Danio rerio (zebrafish)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1.S	380168	Xenopus laevis (African clawed frog)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1.S	380168	Xenopus laevis (African clawed frog)
DOID:1289	neurodegenerative disease Aliases: degenerative disease	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:9282	ocular hypertension	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	tpi1	100038162	Xenopus tropicalis (tropical clawed frog)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4.L	108708472	Xenopus laevis (African clawed frog)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4	560605	Danio rerio (zebrafish)
DOID:0050565	autosomal recessive nonsyndromic deafness	tmtc4	100158586	Xenopus tropicalis (tropical clawed frog)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3.L	108711051	Xenopus laevis (African clawed frog)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3	100150181	Danio rerio (zebrafish)
DOID:0112233	lissencephaly 8 Aliases: LIS8	tmtc3	100145573	Xenopus tropicalis (tropical clawed frog)
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	tmtc3	100145573	Xenopus tropicalis (tropical clawed frog)

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