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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 **126 - 150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070259	congenital disorder of glycosylation type IIg Aliases: CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg	COG1	9382	Homo sapiens (human)	Glyco-Disease Genes Database 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:0111332	Pitt-Hopkins-like syndrome 2 Aliases: PTHSL2	NRXN1	9378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050934	ovarian clear cell carcinoma Aliases: clear-cell ovarian carcinoma	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070044	Coffin-Siris syndrome 2 Aliases: CSS2 MRD14 autosomal dominant mental retardation 14	Arid1a	93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070516	Mitchell syndrome	Acox2	93732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	Acox2	93732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	Cpn1	93721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080932	primary localized cutaneous amyloidosis 3 Aliases: Amyloidosis cutis dyschromica	Gpnmb	93695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8476	Whipple disease Aliases: Whipple's disease intestinal lipodystrophy	Cd163	93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111021	cone-rod dystrophy 15 Aliases: CORD15	Cdhr1	93662	Rattus norvegicus (Norway rat)	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: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: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:0081023	retinal cone dystrophy 4	CACNA2D4	93589	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:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	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:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	CD163	9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:8476	Whipple disease Aliases: Whipple's disease intestinal lipodystrophy	CD163	9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	CD163 CD68	9332 968	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

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