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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 **5451 - 5475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111457	STING-associated vasculopathy with onset in infancy Aliases: SAVI	STING1	340061	Homo sapiens (human)	Alliance of Genome Resources
DOID:1060	Hartnup disease Aliases: Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect	SLC6A19	340024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM	34	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110598	primary ciliary dyskinesia 14 Aliases: CILD14 primary ciliary dyskinesia 14 with or without situs inversus	CCDC39	339829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110877	holoprosencephaly 11 Aliases: HPE11	ihog	33972	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0040090	autoimmune gastritis	nrv1 nrv2	33952 33953	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8929	atrophic gastritis Aliases: gastric atrophy	nrv1 nrv2	33952 33953	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	Atpalpha Ctl2 Rh5 Rh6 dysc nrv1 nrv2 scb wfs1	33952 33953 34615 36692 39533 41889 42679 43440 48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	homer	33944	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0070467	carpal tunnel syndrome 2 Aliases: CTS2	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	33935	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	Gale Galt	33935 38076	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
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	CG9550	33913	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	CG9550 Tsp trol	33913 33941 45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CG31637 CG9550	33913 33914	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060374	orofaciodigital syndrome IV Aliases: Baraitser-Burn syndrome OFD4	tctn	33866	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110982	Joubert syndrome 13 Aliases: JBTS13	tctn	33866	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110987	Joubert syndrome 18 Aliases: JBTS18	tctn	33866	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	CG9109	33844	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome Aliases: CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay	Nalcn	338370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)	Alliance of Genome Resources
DOID:10128	venous insufficiency Aliases: peripheral venous insufficiency	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources

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