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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 **11276 - 11300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080939	hereditary angioedema type I	Serping1	295703	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	Serpinh1	12406	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111144	preterm premature rupture of the membranes Aliases: PPROM	Serpinh1 Tfpi	29345 29436	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	Serpinh1	29345	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070509	Schinzel Giedion syndrome Aliases: SGS Schinzel-Giedion midface retraction syndrome	Setbp1	240427	Mus musculus (house mouse)	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	240427	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies Aliases: NEDSID	Setd1a Setd1b	208043 233904	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070471	early-onset epilepsy 2 Aliases: EPEO2	Setd1a	233904	Mus musculus (house mouse)	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	269254	Mus musculus (house mouse)	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	269254	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	Sfrp4	20379	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	Sfrp4	89803	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E Aliases: Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E	Sgcb	24051	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	Sgcd Sgcg Sgcz	24052 24053 244431	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F Aliases: LGMD2F delta-sarcoglycanopathy limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency	Sgcd	24052	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	Sgce	20392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090034	myoclonic dystonia 11	Sgce	432360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	Sgcg	24053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	Sgsh	27029	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050650	familial atrial fibrillation Aliases: ATFB	Sh para	32619 32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3426	vestibular disease Aliases: Vertigo, vestibular disorder	Sh	32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050989	episodic ataxia type 1	Sh	32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	Sh	32780	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111789	Frank-Ter Haar syndrome Aliases: Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome megalocornea, multiple skeletal anomalies, and developmental delay	Sh3pxd2b	268396	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	Shab	38352	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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