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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 **3626 - 3650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	DDOST	1650	Homo sapiens (human)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	16514	Mus musculus (house mouse)
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	Kcnj11	16514	Mus musculus (house mouse)
DOID:4440	seminoma Aliases: Seminoma, Pure	Kcnq1 Pcna Tymp	16535 18538 72962	Mus musculus (house mouse)
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	Kcnq1 Tlr2 Tnf	16535 21926 24088	Mus musculus (house mouse)
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:0050650	familial atrial fibrillation Aliases: ATFB	Kcnq1	16535	Mus musculus (house mouse)
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	Kcnq1	16535	Mus musculus (house mouse)
DOID:10273	heart conduction disease Aliases: heart rhythm disease	Kcnq1	16535	Mus musculus (house mouse)
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:5572	Beckwith-Wiedemann syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:0050793	short QT syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	16548	Mus musculus (house mouse)
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	Dgat2 Kl Lepr Rbp4	16591 16847 19662 67800	Mus musculus (house mouse)
DOID:1074	kidney failure Aliases: renal failure	Kl Nampt Ppargc1a Tlr2 Tlr4	16591 19017 21898 24088 59027	Mus musculus (house mouse)
DOID:12466	secondary hyperparathyroidism	Kl	16591	Mus musculus (house mouse)
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	16591	Mus musculus (house mouse)
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	Kl	16591	Mus musculus (house mouse)
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	Lalba	16770	Mus musculus (house mouse)
DOID:11727	facioscapulohumeral muscular dystrophy Aliases: Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine	Large1	16795	Mus musculus (house mouse)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	Large1	16795	Mus musculus (house mouse)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	Large1	16795	Mus musculus (house mouse)
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	Lep Lepr Ppargc1a Tnf	16846 16847 19017 21926	Mus musculus (house mouse)
DOID:10603	glucose intolerance Aliases: Glucose malabsorption Malabsorption of glucose	Coq2 Lep Lepr	16846 16847 71883	Mus musculus (house mouse)

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