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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 **2101 - 2125** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0090034	myoclonic dystonia 11	Sgce	20392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	SGCE	8910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090041	torsion dystonia 4	TUBB4A	10382	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090044	dystonia 9 Aliases: paroxysmal choreoathetosis with spasticity	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090045	glucose transporter type 1 deficiency syndrome 2 Aliases: DYT18 GLUT1 deficiency syndrome 2 GLUT1DS2 childhood-onset GLUT1 deficiency syndrome 2 dystonia 18	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090048	dystonia 16	PRKRA	8575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090050	dystonia 27	COL6A3	1293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090052	dystonia 24	ANO3	63982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090056	dystonia 12	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090059	enhanced S-cone syndrome	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	EIF2AK3	9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	Eif2ak3	13666	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090064	familial cold autoinflammatory syndrome 3 Aliases: FACU FCAS3 PLAID PLCG2-associated antibody deficiency and immune dysregulation familial atypical cold urticaria phospholipase C gamma 2-associated antibody deficiency and immune dysregulation	PLCG2	5336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	Wnt7a	22421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090068	giant axonal neuropathy 1	GAN	8139	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	NDNF TCF12	6938 79625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	TACR3	6870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	Tacr3	21338	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	Kiss1r	114229	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1	9394	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia	IL17RD	54756	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	FGFR1 GNRHR NSMF	2260 26012 2798	Homo sapiens (human)	Alliance of Genome Resources

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