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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4201 - 4225** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	DNAH11 DNAH5 MBL2	1767 4153 8701	Homo sapiens (human)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	rib-1 rib-2	176502 178080	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050833	orotic aciduria	umps-1	176453	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	sqv-3	176382	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	dat-1	176304	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	ina-1	176296	Caenorhabditis elegans	Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	apl-1 lin-12	176282 180783	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	deg-1 glr-1 glt-3 mec-4 pkc-2 poml-1	176204 177882 181035 181166 181728 187297	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	ncr-1 ncr-2	176165 180719	Caenorhabditis elegans	Alliance of Genome Resources
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080490	mucolipidosis type IV	cup-5	176074	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	gon-1 ogt-1 parp-1	176000 177850 266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	daf-4 dbl-1 mua-3	175781 176430 179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112307	sarcosinemia Aliases: SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency	SARDH	1757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110461	X-linked dilated cardiomyopathy Aliases: CMD3B DMD-related dilated cardiomyopathy XLCM dilated cardiomyopathy 3B	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:9883	Becker muscular dystrophy Aliases: Benign pseudohypertrophic muscular dystrophy benign congenital myopathy	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	unc-103	175527	Caenorhabditis elegans	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	glp-1 ina-1 pat-3 tsp-12	175504 176286 176296 177890	Caenorhabditis elegans	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	tir-1	175502	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9351	diabetes mellitus Aliases: diabetes	daf-2 ida-1 ogt-1	175410 175807 176000	Caenorhabditis elegans	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources

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