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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 **10576 - 10600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	RYR1 RYR2 RYR3	6261 6262 6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080991	congenital myopathy 1B Aliases: multiminicore disease	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1 Aliases: CVPT1 arrhythmogenic right ventricular dysplasia 2	RYR2	6262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081352	congenital myopathy 20	RYR3	6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060237	Warburg micro syndrome Aliases: WARBM Warburg-Sjo-Fledelius syndrome micro syndrome	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110717	Warburg micro syndrome 2 Aliases: Micro Syndrome 2 WARBM2	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111586	Martsolf syndrome Aliases: cataract-intellectual disability-hypogonadism syndrome	Rab3gap2	98732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	Rab8b	235442	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	Rab8b	235442	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060853	Potocki-Lupski syndrome Aliases: 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2	Rai1	19377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050905	inflammatory myofibroblastic tumor	Ranbp2	19386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111694	familial adult myoclonic epilepsy 7 Aliases: BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7	Rapgef2	310533	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060791	hypomyelinating leukodystrophy 9 Aliases: HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy	Rars1	104458	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070013	Seckel syndrome 2 Aliases: SCKL2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2	Rbbp8	225182	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	Rbm10	236732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080281	schizophrenia 19	Rbm12	75710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	Rbp3	19661	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050912	colon adenoma	Rbp4 Tet2	19662 214133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050912	colon adenoma	Rbp4	25703	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	Rdl	39054	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	Reep6	70335	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080350	retinitis pigmentosa 77	Reep6	70335	Mus musculus (house mouse)	Alliance of Genome Resources

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