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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 **6426 - 6450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0050432	Asperger syndrome	ARSD SLC25A12	414 8604	Homo sapiens (human)
DOID:13757	excessive tearing Aliases: Epiphora Excessive tear production Watering eye	ARSD	414	Homo sapiens (human)
DOID:9278	hyperargininemia Aliases: Arginase deficiency argininemia deficiency of canavanase	ARSD	414	Homo sapiens (human)
DOID:0060485	Mowat-Wilson syndrome Aliases: Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease	ARSD	414	Homo sapiens (human)
DOID:1400	lacrimal apparatus disease	ARSD	414	Homo sapiens (human)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3 Aliases: MDDGB3 congenital muscular dystrophy POMGNT1-related	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	pomgnt1.L pomgnt1.S	414570 495292	Xenopus laevis (African clawed frog)
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	mgat2.L mgat2.S	414590 444674	Xenopus laevis (African clawed frog)
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	dpm1.L dpm1.S	414689 734516	Xenopus laevis (African clawed frog)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	mpdu1a mpdu1b	415220 447806	Danio rerio (zebrafish)
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	41528	Drosophila melanogaster (fruit fly)
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	INPP5E MBL2 NTM	4153 50863 56623	Homo sapiens (human)
DOID:0080176	meningococcal meningitis	MBL2 TLR2 TLR4	4153 7097 7099	Homo sapiens (human)
DOID:0060496	respiratory allergy Aliases: airway allergy	MBL2 TLR4	4153 7099	Homo sapiens (human)
DOID:3342	bone inflammation disease Aliases: Inflammatory disorder of bone bone inflammatory disease osteitis	CALR MBL2	4153 811	Homo sapiens (human)
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	MBL2	4153	Homo sapiens (human)
DOID:12375	bronchopneumonia Aliases: Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia	MBL2	4153	Homo sapiens (human)
DOID:14239	gastrointestinal tularemia Aliases: Enteric tularemia intestinal tularaemia	MBL2	4153	Homo sapiens (human)
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	MBL2	4153	Homo sapiens (human)
DOID:9861	miliary tuberculosis Aliases: Disseminated tuberculosis Tuberculosis miliaris disseminata acute miliary tuberculosis generalized tuberculosis	MBL2	4153	Homo sapiens (human)
DOID:0050117	disease by infectious agent Aliases: infectious disease	MBL2	4153	Homo sapiens (human)
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	Glys	41823	Drosophila melanogaster (fruit fly)
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	Glys	41823	Drosophila melanogaster (fruit fly)

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