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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 **11401 - 11425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0112230	lissencephaly 5 Aliases: LIS5	LAMB1	3912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080380	nephrotic syndrome type 5 Aliases: nephrotic syndrome type 5, with or without ocular abnormalities	LAMB2	3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	LAMB3	3914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	CG6418 Orct2 Orct mys	39218 42890 42891 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081320	multiple synostoses syndrome 4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080589	Klippel-Feil syndrome 1	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110217	Leber congenital amaurosis 17 Aliases: LCA17	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070473	Zaki syndrome	wls	39259	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod	39265	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod	39265	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	rt	39297	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	rt	39297	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9631	Pelger-Huet anomaly	LBR	3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111588	Greenberg dysplasia Aliases: GRBGD Greenberg skeletal dysplasia HEM dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome	LBR	3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	LCAT	3931	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	wdr45	393200	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	dgat2 slc46a1	393255 565316	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	slc46a1	393255	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050718	vitamin metabolic disorder	slc5a12 slc5a8l	393339 556156	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	tmem231	393358	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	tmem231	393358	Danio rerio (zebrafish)	Alliance of Genome Resources

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