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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 **4026 - 4050** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0060171	obsolete Dravet syndrome	ALDH7A1 EPM2A	501 7957	Homo sapiens (human)
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)
DOID:0080543	hyperprolinemia type 2 Aliases: hyperprolinemia type II	ALDH7A1	501	Homo sapiens (human)
DOID:11427	endosalpingiosis	OVGP1	5016	Homo sapiens (human)
DOID:3437	laryngitis	OVGP1	5016	Homo sapiens (human)
DOID:0060763	X-linked juvenile retinoschisis 1 Aliases: X-linked juvenile retinoschisis X-linked retinoschisis XLRS	PAFAH1B1 SLC5A1	5048 6523	Homo sapiens (human)
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)
DOID:0060432	chromosome 17p13.3 duplication syndrome Aliases: 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3	PAFAH1B1	5048	Homo sapiens (human)
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PAFAH1B1	5048	Homo sapiens (human)
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	NSDHL PIK3CA PTEN	50814 5290 5728	Homo sapiens (human)
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)
DOID:5769	verruciform xanthoma of skin Aliases: Cutaneous Verruciform Xanthoma Verruciform xanthoma	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:4692	endophthalmitis	NTM TNF	50863 7124	Homo sapiens (human)
DOID:859	holocarboxylase synthetase deficiency Aliases: Biotin-(propionyl-CoA-carboxylase) ligase deficiency Multiple carboxylase deficiency - neonatal onset	PC	5091	Homo sapiens (human)
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)
DOID:11126	acquired thrombocytopenia Aliases: secondary thrombocytopenia	CRYL1	51084	Homo sapiens (human)
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Aliases: DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration	MECR	51102	Homo sapiens (human)
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)
DOID:0080178	mucositis	PCNA PTGS2	5111 5743	Homo sapiens (human)
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	Homo sapiens (human)
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)

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