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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **276 - 300** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050775	schneckenbecken dysplasia	SLC35D1	23169	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	CSTF2 ZMYM3	1478 9203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	TRM732	855301	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	Gdi1 Iqsec2	14567 245666	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ARL3 IFT74 INPP5E	403 56623 80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	KIF14 TMEM231 TXNDC15	79583 79770 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	Tmem67	329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050782	Zollinger-Ellison syndrome	EGF	1950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 GRN HLA-DQB1 HLA-DRB1 IL4R	140766 2896 3119 3123 3566	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	Bmpr1a Smad4	12166 17128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	BMPR1A SMAD4	4089 657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050789	tarsal-carpal coalition syndrome	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050790	fibular hypoplasia and complex brachydactyly Aliases: Du Pan syndrome acromesomelic dysplasia-2B	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050790	fibular hypoplasia and complex brachydactyly Aliases: Du Pan syndrome acromesomelic dysplasia-2B	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	Amhr2	110542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	AMH AMHR2	268 269	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	TEK	7010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	KCNH2 KCNQ1	3757 3784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	Kcnh2	16511	Mus musculus (house mouse)	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:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	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

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