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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 **6426 - 6450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:4889	lymph node tuberculosis Aliases: Tuberculous adenitis Tuberculous lymphadenopathy king's evil scrofula	SMUG1	23583	Homo sapiens (human)
DOID:0060670	cerebral cavernous malformation 2	SMUG1	23583	Homo sapiens (human)
DOID:8553	pyoderma gangrenosum	SOAT1	6646	Homo sapiens (human)
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SOR1 SOR2 XYL2	850759 851351 853624	Saccharomyces cerevisiae S288C
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SOR1 SOR2 XYL2	850759 851351 853624	Saccharomyces cerevisiae S288C
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	SPATA20	64847	Homo sapiens (human)
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	SPT14	855928	Saccharomyces cerevisiae S288C
DOID:0060284	paroxysmal nocturnal hemoglobinuria	SPT14	855928	Saccharomyces cerevisiae S288C
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	SPT14	855928	Saccharomyces cerevisiae S288C
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	SPTLC2	9517	Homo sapiens (human)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)
DOID:12179	tinea corporis Aliases: Dermatophytosis of the trunk dermatophytosis of the body	SQLE	6713	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)
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: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:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)
DOID:0090047	paroxysmal nonkinesigenic dyskinesia 2	ST3GAL5	8869	Homo sapiens (human)
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	STS	412	Homo sapiens (human)

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