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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 **6776 - 6800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0080899	lung pleomorphic carcinoma	Slc3a2	50567	Rattus norvegicus (Norway rat)
DOID:0080141	mosaic variegated aneuploidy syndrome 1	CNTN3	5067	Homo sapiens (human)
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	Sirt6	50721	Mus musculus (house mouse)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st1	50785	Mus musculus (house mouse)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	Gne	50798	Mus musculus (house mouse)
DOID:3659	sialuria	Gne	50798	Mus musculus (house mouse)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Slc25a13	50799	Mus musculus (house mouse)
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	Slc25a13	50799	Mus musculus (house mouse)
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	Slc25a13	50799	Mus musculus (house mouse)
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Slc25a13	50799	Mus musculus (house mouse)
DOID:4137	common bile duct disease	Slc25a13	50799	Mus musculus (house mouse)
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:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)
DOID:5769	verruciform xanthoma of skin Aliases: Cutaneous Verruciform Xanthoma Verruciform xanthoma	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:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	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: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)

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