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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 **12076 - 12100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110770	hereditary spastic paraplegia 17 Aliases: SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet	Bscl2	14705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	Bscl2	14705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	Bscl2	14705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	14705 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14227	azoospermia	Bscl2 Cdc34 Cdc42bpa Cdc42bpb Esrrb Esrrg Ndst1 Ndst2 Ndst3 Ndst4 Ptprd Ptprf Ptprs Rbbp4 Rbbp7 Snrpa1 Tdrkh	14705 15531 17423 19266 19268 19280 19646 216150 217866 226751 245688 26380 26381 64580 68981 72634 83398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	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	14688	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080222	pseudohypoparathyroidism type IB	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4184	pseudohypoparathyroidism	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112010	pituitary adenoma 3 Aliases: PITA3 pituitary adenoma 3, multiple types	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080053	Albright's hereditary osteodystrophy Aliases: Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4183	pseudopseudohypoparathyroidism Aliases: Normocalcemic pseudohypoparathyroidism	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080450	developmental and epileptic encephalopathy 17 Aliases: DEE17 early infantile epileptic encephalopathy 17	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112276	neurodevelopmental disorder with involuntary movements Aliases: NEDIM	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	Gnao1 Idh3a Scn8a Stxbp1	14681 20273 20910 67834	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090055	dystonia 25	Gnal	14680	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060536	mitochondrial complex I deficiency Aliases: isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency	AIFM1 ELAC2 NDUFS1 SLC25A10	1468 4719 60528 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110887	inflammatory bowel disease 12 Aliases: IBD12	Gnai2	14678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	Gnai1 Gnai2 Gnai3 Gnao1 Igfbp3	14677 14678 14679 14681 16009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112163	spermatogenic failure 45 Aliases: SPGF45	DNAH2	146754	Homo sapiens (human)	Alliance of Genome Resources
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	Gm2a	14667	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	Gm2a	14667	Mus musculus (house mouse)	Alliance of Genome Resources

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