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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	HOMER2	9455	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	EIF2AK3	9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1 Aliases: Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081190	autosomal recessive intellectual developmental disorder 18	MED23	9439	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	ECEL1	9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110810	hereditary spastic paraplegia 5A Aliases: SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080490	mucolipidosis type IV	Mcoln1	94178	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	TJP2	9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050578	occult macular dystrophy	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112145	retinitis pigmentosa 88 Aliases: RP88	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050654	Baller-Gerold syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050774	rapadilino syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)	Alliance of Genome Resources
DOID:93	language disorder	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111275	speech-language disorder-1 Aliases: CAS articulatory apraxia childhood apraxia of speech developmental apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070595	X-linked spermatogenic failure 4 Aliases: SPGFX4	GCNA	93953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1	9394	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	CD27	939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070259	congenital disorder of glycosylation type IIg Aliases: CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg	COG1	9382	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111332	Pitt-Hopkins-like syndrome 2 Aliases: PTHSL2	NRXN1	9378	Homo sapiens (human)	Alliance of Genome Resources

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