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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 **9351 - 9375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB	2990	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	GYG1 GYS2 PFKL PFKM PFKP PHKA1 PHKA2 PHKG2 PRKAG2 PYGL SLC2A2	2992 2998 51422 5211 5213 5214 5255 5256 5261 5836 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	PYCR1 PYCR2	29920 5831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060788	hypomyelinating leukodystrophy 10 Aliases: HLD10	PYCR2	29920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	Serpina6	299270	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	ALG6	29929	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	Ndufb11	299310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111876	linear skin defects with multiple congenital anomalies 3 Aliases: LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies	Ndufb11	299310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	DSE	29940	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	HMGCR JAG2 LAMA2 POGLUT1 POMT2 POPDC3	29954 3156 3714 3908 56983 64208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2 Aliases: MDDGB2 congenital muscular dystrophy POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111364	Alzheimer's disease 9 Aliases: AD9 Alzheimer's disease 9, late onset	Abca7	299609	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081297	oculopharyngodistal myopathy 1	LRP12	29967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081382	amyotrophic lateral sclerosis type 28	LRP12	29967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050723	PSAT deficiency Aliases: Phosphoserine aminotransferase deficiency	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080075	Neu-Laxova syndrome 2	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	Cry1	299691	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	EPM2A GYS1 GYS2 NHLRC1	2997 2998 378884 7957	Homo sapiens (human)	Alliance of Genome Resources

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