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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 **10751 - 10775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060269	pontocerebellar hypoplasia type 2C	SEN34	851267	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	SEPTIN9	10801	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060186	chemical colitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	SERPINA12 SERPINA1 SERPINB1 SERPINC1 SERPINE2 SERPINI1 SERPINI2 SYVN1	145264 1992 462 5265 5270 5274 5276 84447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	SERPINA6	866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110536	autosomal recessive nonsyndromic deafness 91 Aliases: DFNB91 autosomal recessive deafness 91	SERPINB6	5269	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies Aliases: FENIB	SERPINB7 SERPINE1 SERPINE2 SERPINI1 SERPINI2	5054 5270 5274 5276 8710	Homo sapiens (human)	Alliance of Genome Resources
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	SERPINC1	462	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111901	heparin cofactor II deficiency Aliases: HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency	SERPIND1	3053	Homo sapiens (human)	Alliance of Genome Resources
DOID:74	hematopoietic system disease Aliases: Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease	SERPINE1 UGT1A1	5054 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	SERPINE1 VEGFA	5054 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	SERPINF1	5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060601	alpha-2-plasmin inhibitor deficiency Aliases: antiplasmin defiency plasmin inhibitor deficiency	SERPINF2	5345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080939	hereditary angioedema type I	SERPING1	710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	SERPINH1	871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070053	autosomal dominant intellectual developmental disorder 23 Aliases: MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23	SET3	853900	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070509	Schinzel Giedion syndrome Aliases: SGS Schinzel-Giedion midface retraction syndrome	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070059	autosomal dominant intellectual developmental disorder 29 Aliases: MRD29 autosomal dominant mental retardation 29 autosomal dominant non-syndromic intellectual disability 29	SETBP1	26040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies Aliases: NEDSID	SETD1A	9739	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070471	early-onset epilepsy 2 Aliases: EPEO2	SETD1A	9739	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070053	autosomal dominant intellectual developmental disorder 23 Aliases: MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23	SETD5	55209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources

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