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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 **4951 - 4975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111917	spermatogenic failure 43 Aliases: SPGF43	SPEF2	79925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111706	oblique facial clefting 1 Aliases: Tessier number 4 facial cleft	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080698	Teebi hypertelorism syndrome 1 Aliases: Opitz GBBB syndrome type II SPECC1L-related hypertelorism syndrome Teebi hypertelorism syndrome-1	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110792	hereditary spastic paraplegia 4 Aliases: SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4	SPAST	6683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	SPART	23111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	SPARC	6678	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112337	spermatogenic failure 55 Aliases: SPGF55	SPAG17	200162	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110607	primary ciliary dyskinesia 28 Aliases: CILD28 primary ciliary dyskinesia 28 with or without situs inversus	SPAG1	6674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	SP7	121340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	SOX9	6662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	SOX2	6657	Homo sapiens (human)	Alliance of Genome Resources
DOID:10811	nasal cavity cancer Aliases: malignant neoplasm of nasal cavities malignant tumor of the nasal cavity	SOX2 TP53	6657 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060756	sclerosteosis 1 Aliases: SOST1	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060251	sclerosteosis	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060587	Noonan syndrome 9 Aliases: NS9	SOS2	6655	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:6420	pulmonary valve stenosis	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060582	Noonan syndrome 4 Aliases: NS4	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
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	Alliance of Genome Resources
DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Aliases: CAKUTHED	SON	6651	Homo sapiens (human)	Alliance of Genome Resources
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	SOD2	6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:5113	nutritional deficiency disease	SOD1	6647	Homo sapiens (human)	Alliance of Genome Resources

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