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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 **5626 - 5650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	NAAA	27163	Homo sapiens (human)	DisGeNET
DOID:2367	neuroaxonal dystrophy	NAGA PLA2G1B PLA2G4A PLA2G6 PLB1	151056 4668 5319 5321 8398	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	NAGA	4668	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	NAGA	4668	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1947	trichomoniasis	NAGA	4668	Homo sapiens (human)	DisGeNET
DOID:2510	Kluver-Bucy syndrome Aliases: Klver-Bucy syndrome	NAGLU SGSH	4669 6448	Homo sapiens (human)	DisGeNET
DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V Aliases: CMT2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V	NAGLU	4669	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2365	West Nile encephalitis Aliases: West Nile Fever with encephalitis West Nile fever encephalitis	NAMPT PIK3CA PIK3CB PIK3CD	10135 5290 5291 5293	Homo sapiens (human)	DisGeNET
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	41528	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3374	peripheral osteosarcoma Aliases: Surface Osteosarcoma	NANS	54187	Homo sapiens (human)	DisGeNET
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)	DisGeNET
DOID:4236	carcinosarcoma Aliases: MMMT malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mixed Mesodermal (mullerian) tumor mullerian mixed tumor	NCAM1 PIK3CA PTEN SMUG1	23583 4684 5290 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050933	ovarian serous carcinoma	NCAM1 PTEN	4684 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:3492	mixed connective tissue disease Aliases: Connective tissue disease overlap syndrome mixed collagen vascular disease	NCAM1 SFTPD TNF	4684 6441 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
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)	DisGeNET
DOID:9072	lethal midline granuloma Aliases: Midfacial Necrotising Lesion malignant granuloma of face	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:1523	colon lymphoma Aliases: Colonic Lymphoma	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:8162	thyroid Hurthle cell adenoma Aliases: benign oncocytoma of the thyroid	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:11206	opioid abuse	NCAM1	4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	NDST1 PARP1	142 3340	Homo sapiens (human)	DisGeNET
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)	Alliance of Genome Resources
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	NDUFAB1	4706	Homo sapiens (human)	DisGeNET
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)	DisGeNET

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