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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 **2051 - 2075** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0110670	congenital myasthenic syndrome 9 Aliases: CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency	MUSK	4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	SLC18A3	6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110674	congenital myasthenic syndrome 17 Aliases: CMS17	LRP4	4038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110676	congenital myasthenic syndrome 13 Aliases: CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2	DPAGT1	1798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110683	congenital myasthenic syndrome 18 Aliases: CMS18	SNAP25	6616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	APCDD1 SNRPE	147495 6635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110699	hypotrichosis 2 Aliases: Htss1 Hypt2 Spanish type hypotrichosis hypotrichosis simplex of the scalp 1	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110703	hypotrichosis 6 Aliases: Hypotrichosis, Localized, Autosomal Recessive 1 Hypt6 Lah1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis	DSG4	147409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	LIPH	200879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110705	hypotrichosis 8 Aliases: Hypt8 Lah3 hypotrichosis, localized, autosomal recessive 3	LPAR6	10161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110708	hypotrichosis 11 Aliases: Hypt11	SNRPE	6635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110709	hypotrichosis 12 Aliases: Hypt12	RPL21	6144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110710	hypotrichosis 13 Aliases: Hypt13 hypotrichosis with woolly hair	KRT71	112802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110713	Oguchi disease-2 Aliases: CSNBO2 congenital stationary night blindness Oguchi type 2	GRK1	6011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	CLN3 PPT1	1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	MFSD8	256471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	CTSD	1509	Homo sapiens (human)	Alliance of Genome Resources

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