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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4376 - 4400** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	Dag1	13138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110657	congenital myasthenic syndrome 8 Aliases: CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency	Agrn	11603	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	Pdx1	18609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	Specc1l	74392	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	Crppa	75847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110081	arrhythmogenic right ventricular dysplasia 10 Aliases: ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10	Dsg2	13511	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110977	brachydactyly type A1C Aliases: BDA1C	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050964	spinocerebellar ataxia type 14	Prkcg	18752	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060480	left ventricular noncompaction Aliases: left ventricular hypertrabeculation	Chd4 Slc39a8 Ywhae	107932 22627 67547	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	Pak3	18481	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	Ccdc66 Crb2 Slc6a6	21366 241324 320234	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	Snca	20617	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	Bcor	71458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	Impg2	224224	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	Abcc6	27421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090120	hereditary neutrophilia	Csf3r	12986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	Slc29a1	63959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Epm2a Nhlrc1	105193 13853	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	Trpm1	17364	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	Ezh2	14056	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:856	biotinidase deficiency Aliases: BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase	Btd	26363	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	Cdh23	22295	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	Serpini2	67931	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	Coch	12810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4480	achondroplasia Aliases: Achondroplastic physique Chondrodystrophia osteosclerosis congenita	Acan Npr2	11595 230103	Mus musculus (house mouse)	Alliance of Genome Resources

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