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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 **4001 - 4025** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0070281	primary autosomal recessive microcephaly 19 Aliases: MCPH19	COPB2	9276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080922	bilateral frontoparietal polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080924	bilateral perisylvian polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050942	spastic ataxia 3	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111468	combined oxidative phosphorylation deficiency 25 Aliases: COXPD25	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110519	autosomal recessive nonsyndromic deafness 68 Aliases: DFNB68 autosomal recessive deafness 68	S1PR2	9294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081146	common variable immunodeficiency 3	CD19	930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081148	common variable immunodeficiency 5	MS4A1	931	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	MMP20	9313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080689	mosaic variegated aneuploidy syndrome 3	TRIP13	9319	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080234	Clark-Baraitser syndrome Aliases: Baraitser syndrome CLABARS autosomal dominant intellectual disability 49 autosomal dominant mental retardation 49	TRIP12	9320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080054	achondrogenesis type IA Aliases: achondrogenesis Houston-Harris type	TRIP11	9321	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	PGAP3	93210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070521	peeling skin syndrome 2 Aliases: PSS2	TGM5	9333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:10485	esophageal atresia Aliases: Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type Aliases: MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome	EFTUD2	9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	CACNA2D4	93589	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111274	CODAS syndrome Aliases: cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome	LONP1	9361	Homo sapiens (human)	Alliance of Genome Resources
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	KL	9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	KL	9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080953	amelogenesis imperfecta type 1J Aliases: Amelogenesis imperfecta, type IJ	ACP4	93650	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111332	Pitt-Hopkins-like syndrome 2 Aliases: PTHSL2	NRXN1	9378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources

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