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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **826 - 850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0050793	short QT syndrome	KCNH2 KCNH6 KCNQ1	3757 3784 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	Kcnh2 Kcnq1 Slc4a3	16511 16535 20536	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	Kcnh2 Kcnq1 Slc4a3	117018 24781 84020	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050794	multiple synostoses syndrome	FGF9 GDF5	2254 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050794	multiple synostoses syndrome	Fgf9	25444	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050794	multiple synostoses syndrome	Fgf9 Gdf5	14180 14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	Yap1	22601	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	37028	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	POX1	852667	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	Slc6a8	50690	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	SLC6A8	6535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	Slc6a8	102857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	572324	Danio rerio (zebrafish)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6.L b3galt6.S	108696563 108697636	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
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)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	beta3GalTII	35848	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	sqv-2	173635	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050804	glioblastoma proneural subtype	RB1	5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	Hyal1	15586	Mus musculus (house mouse)	Alliance of Genome Resources

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