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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 **6651 - 6675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:10480	diaphragmatic eventration	MTM1 PIK3CA PLOD3	4534 5290 8985	Homo sapiens (human)	DisGeNET
DOID:0111217	autosomal dominant centronuclear myopathy Aliases: AD-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)	DisGeNET
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	MTM1 MTMR14	4534 64419	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)	DisGeNET
DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency Aliases: BCKDK deficiency BCKDKD autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0060742	methylmalonic acidemia cblA type Aliases: methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0050818	transcobalamin II deficiency Aliases: TCN2 deficiency	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMUT	4594	Homo sapiens (human)	DisGeNET
DOID:4839	sebaceous adenocarcinoma Aliases: Sebaceous carcinoma adenocarcinoma of the Sebaceous gland	CD44 MUTYH PIK3CA PTEN	4595 5290 5728 960	Homo sapiens (human)	DisGeNET
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	MUTYH SDC1	4595 6382	Homo sapiens (human)	DisGeNET
DOID:5375	hair follicle neoplasm Aliases: Hair Matrix neoplasm Hair matrix tumour	MUTYH SDC1	4595 6382	Homo sapiens (human)	DisGeNET
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: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: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:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	CALR CANX NAGLU	4669 811 821	Homo sapiens (human)	DisGeNET 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:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4	468	Homo sapiens (human)	Alliance of Genome Resources
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)	DisGeNET
DOID:3493	signet ring cell adenocarcinoma Aliases: Signet ring carcinoma Signet ring cell carcinoma	GALNT14 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PTEN TFF1	4684 5290 5291 5293 5294 5319 5320 5728 7031 79623 8398	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
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:5381	bile duct adenoma Aliases: Cholangioadenoma	BRAF NCAM1	4684 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9072	lethal midline granuloma Aliases: Midfacial Necrotising Lesion malignant granuloma of face	NCAM1	4684	Homo sapiens (human)	DisGeNET

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