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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	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: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:0050700	cardiomyopathy Aliases: Cardiomyopathies	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:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod	39265	Drosophila melanogaster (fruit fly)
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	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: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: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: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:12554	hemolytic-uremic syndrome Aliases: haemolytic-uraemic syndrome hemolytic uremic syndrome	CG34057	3885645	Drosophila melanogaster (fruit fly)
DOID:0080520	Tn polyagglutination syndrome Aliases: galactosyltransferase deficiency	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:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	sfl	38736	Drosophila melanogaster (fruit fly)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	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)

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