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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 **9301 - 9325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F Aliases: CMTDIF autosomal dominant intermediate Charcot-Marie-Tooth disease type F	GNB4	59345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	GNB1	2782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112010	pituitary adenoma 3 Aliases: PITA3 pituitary adenoma 3, multiple types	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:4184	pseudohypoparathyroidism	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	GNAS PTHLH	2778 5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110887	inflammatory bowel disease 12 Aliases: IBD12	GNAI2	2771	Homo sapiens (human)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	GNAI1 GNAI2 GNAI3 GNAT3 IGFBP3	2770 2771 2773 346562 3486	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:0080517	Meier-Gorlin syndrome 6	GMNN	51053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	GMDS SLC35C1	2762 55343	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A	2760	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GM2A	2760	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	GLUD1	2746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112207	developmental and epileptic encephalopathy 71 Aliases: DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy	GLS	2744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	GLRB	2743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070422	syndromic X-linked intellectual disability Pilorge type Aliases: MRXSP	GLRA2	2742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources

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