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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 **12351 - 12375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110923	familial hemophagocytic lymphohistiocytosis 3 Aliases: FHL3 HLH3 HPLH3	UNC13D	201294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG1	854987	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11702	dysgammaglobulinemia	UNG1	854987	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060821	syndromic X-linked intellectual disability 14 Aliases: mental retardation, X-linked, syndromic 14	UPF3B	65109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080118	mitochondrial complex III deficiency nuclear type 9	UQCC3	790955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080114	mitochondrial complex III deficiency nuclear type 5	UQCRC2	7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	UQCRFS1	7386	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112180	urocanase deficiency Aliases: UROCD encephalopathy due to urocanase deficiency high urine urocanic acid levels urocanate hydratase deficiency urocanic aciduria	UROC1	131669	Homo sapiens (human)	Alliance of Genome Resources
DOID:13271	cutaneous porphyria Aliases: Erythropoietic porphyria	UROS	7390	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110827	Usher syndrome type 2 Aliases: USH2	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110360	retinitis pigmentosa 39 Aliases: RP39	USH2A	7399	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070187	Y-linked spermatogenic failure 2 Aliases: SPGFY2 nonobstructive Y-linked spermatogenic failure	USP9Y	8287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080828	VEXAS syndrome Aliases: vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome	Uba1	22201	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	Uba1	22201	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060206	amyotrophic lateral sclerosis type 15 Aliases: ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	Ubqln2	317396	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060206	amyotrophic lateral sclerosis type 15 Aliases: ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	Ubqln2 Ubqln4	54609 94232	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	Ucp2	54315	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	Ugalt	31255	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	Ugdh	22235	Mus musculus (house mouse)	Alliance of Genome Resources

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