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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 **2651 - 2675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	fkrp	571426	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111315	idiopathic generalized epilepsy 14 Aliases: EIG14	Slc12a5	57138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080460	developmental and epileptic encephalopathy 34 Aliases: DEE34 early infantile epileptic encephalopathy 34	Slc12a5	57138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080498	ovarian dysgenesis 6	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080385	nephrotic syndrome type 11	NUP107	57122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050729	Chanarin-Dorfman syndrome Aliases: neutral lipid storage disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070291	primary autosomal recessive microcephaly 4 Aliases: MCPH4	KNL1	57082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060275	pontocerebellar hypoplasia type 6	RARS2	57038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050571	congenital disorder of glycosylation type II	galnt2	570248	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	VPS35L	57020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070242	primary coenzyme Q10 deficiency 5 Aliases: COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	COQ9	57017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	pomt1	569769	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	pomt1	569769	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	FAM20C	56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	alg12	569494	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080499	ovarian dysgenesis 7	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111473	combined oxidative phosphorylation deficiency 5 Aliases: COXPD5 hypotonia with lactic acidemia and hyperammonemia	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080579	3-Methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	56922	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060916	proteasome-associated autoinflammatory syndrome 3 Aliases: PRAAS3	PSMB4	5692	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	Lgi1	56839	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	Slc24a1	56814	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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