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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 **3726 - 3750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110664	congenital myasthenic syndrome 3C Aliases: congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	chrnd.L	444847	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110771	hereditary spastic paraplegia 18 Aliases: IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures	erlin2.L erlin2.S	444675 495100	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2.L	444520	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	pomgnt2.L	444520	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	scrib	44448	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060072	benign neoplasm	scrib	44448	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	slc2a10.S	444458	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: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:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	mfsd8.L	444062	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: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: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:0081163	dilated cardiomyopathy 2G	LMOD2	442721	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: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:0050986	spinocerebellar ataxia type 40	CCDC88C	440193	Homo sapiens (human)	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: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: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: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: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

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