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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 **12201 - 12225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0112168	autosomal dominant nonsyndromic deafness 77 Aliases: DFNA77	ABCC1	4363	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	nus1	436629	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080553	congenital disorder of glycosylation Iaa Aliases: congenital disorder of glycosylation 1aa	nus1	436629	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	clptm1l	436653	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	acp5b	436725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	CG1544	43689	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	CG1544	43689	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	faf	43749	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	faf	43749	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070187	Y-linked spermatogenic failure 2 Aliases: SPGFY2 nonobstructive Y-linked spermatogenic failure	faf	43749	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcf	43788	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3307	teratoma	Pgm1	44010	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	Pgm1	44010	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	440138	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050986	spinocerebellar ataxia type 40	CCDC88C	440193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	GPR179	440435	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111639	autosomal recessive nonsyndromic deafness 109 Aliases: DFNB109 autosomal recessive deafness 109	fus	44095	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081163	dilated cardiomyopathy 2G	LMOD2	442721	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070271	Lynch syndrome 1 Aliases: FCC1 HNPCC1 familial nonpolyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer type 1	MSH2	4436	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.S	443721	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0070164	spermatogenic failure 2 Aliases: SPGF2	MSH4	4438	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	mfsd8.L	444062	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	ndnf.L	444328	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080268	autosomal dominant nonsyndromic deafness 72	slc44a4.L	444429	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	slc2a10.S	444458	Xenopus laevis (African clawed frog)	Alliance of Genome Resources

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