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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1701 - 1725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	pigb	393448	Danio rerio (zebrafish)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)
DOID:12318	granular corneal dystrophy	CHST6 LCAT	3931 4166	Homo sapiens (human)
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	rt	39297	Drosophila melanogaster (fruit fly)
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)
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)
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod	39265	Drosophila melanogaster (fruit fly)
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod	39265	Drosophila melanogaster (fruit fly)
DOID:4376	milk allergy Aliases: milk allergic reaction	LALBA	3906	Homo sapiens (human)
DOID:0081177	autosomal recessive intellectual developmental disorder 1	teq	39048	Drosophila melanogaster (fruit fly)
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	dally	39013	Drosophila melanogaster (fruit fly)
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	dally	39013	Drosophila melanogaster (fruit fly)
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	dally	39013	Drosophila melanogaster (fruit fly)
DOID:687	hepatoblastoma	Axn dally	39013 43565	Drosophila melanogaster (fruit fly)
DOID:2154	nephroblastoma Aliases: adult nephroblastoma	Lerp dally	39013 43223	Drosophila melanogaster (fruit fly)
DOID:5884	benign intermediate mesothelioma Aliases: Well-differentiated Papillary tumor of Mesothelium	L1CAM	3897	Homo sapiens (human)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	CG34057	3885645	Drosophila melanogaster (fruit fly)
DOID:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	CG34057	3885645	Drosophila melanogaster (fruit fly)
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15 Aliases: MDDGB15 congenital muscular dystrophy DPM3-related	Dpm3	3885575	Drosophila melanogaster (fruit fly)
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	sgl	38760	Drosophila melanogaster (fruit fly)
DOID:14227	azoospermia	sfl	38736	Drosophila melanogaster (fruit fly)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	sfl	38736	Drosophila melanogaster (fruit fly)
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	sfl	38736	Drosophila melanogaster (fruit fly)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	sfl	38736	Drosophila melanogaster (fruit fly)

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