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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 **2276 - 2300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E	4907	Homo sapiens (human)
DOID:2051	maxillary sinusitis	NT5E	4907	Homo sapiens (human)
DOID:2050	acute maxillary sinusitis Aliases: acute antritis	NT5E	4907	Homo sapiens (human)
DOID:0080038	pycnodysostosis	NT5E	4907	Homo sapiens (human)
DOID:3039	cecum adenocarcinoma Aliases: Cecal adenocarcinoma	NT5E	4907	Homo sapiens (human)
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	NT5E	4907	Homo sapiens (human)
DOID:0060322	mastoiditis	NT5E TLR2 TLR4	4907 7097 7099	Homo sapiens (human)
DOID:0050645	arterial tortuosity syndrome	NT5E SLC2A10	4907 81031	Homo sapiens (human)
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	NT5E PNPLA6	10908 4907	Homo sapiens (human)
DOID:5769	verruciform xanthoma of skin Aliases: Cutaneous Verruciform Xanthoma Verruciform xanthoma	NSDHL	50814	Homo sapiens (human)
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	NSDHL PIK3CA PTEN	50814 5290 5728	Homo sapiens (human)
DOID:0112313	brain small vessel disease	NR1D1 SELP	6403 9572	Homo sapiens (human)
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	NQM1 PMI40 TAL1 TPI1	851068 851620 852934 856720	Saccharomyces cerevisiae S288C
DOID:3368	Ewing sarcoma of bone Aliases: Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma	NEU1 SMUG1	23583 4758	Homo sapiens (human)
DOID:11554	Chandler syndrome Aliases: Chandler's syndrome Dystrophy of corneal endothelium Endothelial corneal dystrophy Posterior membrane corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	NDUFAB1	4706	Homo sapiens (human)
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	NDST1 PARP1	142 3340	Homo sapiens (human)
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	NCAM1	4684	Homo sapiens (human)
DOID:9072	lethal midline granuloma Aliases: Midfacial Necrotising Lesion malignant granuloma of face	NCAM1	4684	Homo sapiens (human)
DOID:11206	opioid abuse	NCAM1	4684	Homo sapiens (human)
DOID:1523	colon lymphoma Aliases: Colonic Lymphoma	NCAM1	4684	Homo sapiens (human)

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