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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4551 - 4575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080589	Klippel-Feil syndrome 1	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081320	multiple synostoses syndrome 4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050908	myelodysplastic syndrome	CG6418 Orct2 Orct mys	39218 42890 42891 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	LAMP2	3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	LAMB3	3914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080380	nephrotic syndrome type 5 Aliases: nephrotic syndrome type 5, with or without ocular abnormalities	LAMB2	3913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112230	lissencephaly 5 Aliases: LIS5	LAMB1	3912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110438	dilated cardiomyopathy 1JJ Aliases: CMD1JJ	LAMA4	3910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	LAMA2	3908	Homo sapiens (human)	Alliance of Genome Resources
DOID:2326	gastroenteritis Aliases: cholera morbus infectious colitis, enteritis and gastroenteritis	LALBA TGFA	3906 7039	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	Rdl	39054	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	teq	39048	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070355	overactive bladder syndrome Aliases: OAB overactive bladder urge syndrome urgency-frequency syndrome	TrpA1	39015	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	TrpA1	39015	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9743	diabetic neuropathy	Atg6 InR Tl TrpA1	39015 42549 42850 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	dally	39013	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	dally	39013	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	dally	39013	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	KLK10 L1CAM	3897 5655	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	FEZF1	389549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070525	peeling skin syndrome 6 Aliases: PSS6	FLG2	388698	Homo sapiens (human)	Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	Snmp2	38868	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12132	granulomatosis with polyangiitis Aliases: Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly	Snmp2	38868	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	Snmp2	38868	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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