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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 **1476 - 1500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	SYNJ1 SYNJ2	8867 8871	Homo sapiens (human)
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)
DOID:0110121	Axenfeld-Rieger syndrome type 2 Aliases: RIEG2 Rieger syndrome type 2	SULT1E1	6783	Homo sapiens (human)
DOID:5850	inferior myocardial infarction	SULT1E1	6783	Homo sapiens (human)
DOID:0070077	schizophrenia 1 Aliases: SCZD1	SULT1E1	6783	Homo sapiens (human)
DOID:3274	proliferative type fibrocystic change of breast Aliases: Fibrocystic change, proliferative type with atypia Fibrocystic disease, Proliferative type with Atypia Proliferating Lesion of breast without Atypia Proliferating Lesion of the breast without Atypia Proliferative Fibrocystic Change	SULT1E1 TPI1	6783 7167	Homo sapiens (human)
DOID:2889	retrocochlear disease	SUCLA2	8803	Homo sapiens (human)
DOID:0060063	sideroblastic anemia 1 Aliases: X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1	SUCLA2	8803	Homo sapiens (human)
DOID:0110006	3-methylglutaconic aciduria type 4 Aliases: 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4	SUCLA2	8803	Homo sapiens (human)
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2 SUCLG1 TYMP	1890 8802 8803	Homo sapiens (human)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	STT3B	201595	Homo sapiens (human)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3A STT3B	201595 3703	Homo sapiens (human)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	STT3	852862	Saccharomyces cerevisiae S288C
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	STT3	852862	Saccharomyces cerevisiae S288C
DOID:1166	palindromic rheumatism Aliases: Hench's syndrome Hench-Rosenberg syndrome	STS	412	Homo sapiens (human)
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	Homo sapiens (human)
DOID:0090047	paroxysmal nonkinesigenic dyskinesia 2	ST3GAL5	8869	Homo sapiens (human)
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)
DOID:0070034	autosomal dominant intellectual developmental disorder 4 Aliases: MRD4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability 4	ST3GAL4	6484	Homo sapiens (human)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)
DOID:7378	pituitary hypoplasia	SRD5A3	79644	Homo sapiens (human)

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