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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 **2051 - 2075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	srp-1 srp-7	178585 179195	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ugt1a7 ugt1ab	100384891 406731	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111539	parastremmatic dwarfism Aliases: parastremmatic dysplasia	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	CSTB	1476	Homo sapiens (human)	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	PHO8	852092	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	HIF1A	3091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	Fgfr1	79114	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080390	nephrotic syndrome type 1 Aliases: Finnish congenital nephrosis	Ccl11 Nphs1	20292 54631	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	Lip1 Lip3	41643 43973	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111041	glycogen storage disease IXb Aliases: GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb	CG8475	34114	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	cxcr4	100038176	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	ABCB1 BST2 CD209 CD4 CD68 CD8A HLA-A IGF2 KIR2DL1 KIR3DS1 NCR1 NCR3 TNF TNFRSF1A TNFRSF1B	259197 30835 3105 3481 3802 3813 5243 684 7124 7132 7133 920 925 9437 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	Pon1	84024	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110374	retinitis pigmentosa 68 Aliases: RP68	Slc7a14	241919	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111682	diffuse cystic renal dysplasia Aliases: CYSRD renal dysplasia diffuse cystic susceptibility to cystic renal dysplasia	BICC1	80114	Homo sapiens (human)	Alliance of Genome Resources
DOID:10646	schizotypal personality disorder	AGER	177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	39404	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	C3 CTLA4 HLA-DQB1 HNRNPA1 IFNL1 IL21 KLRK1 MMP2 NFKB1 TNFRSF18 ZEB1	1493 22914 282618 3119 3178 4313 4790 59067 6935 718 8784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112086	nuclear type mitochondrial complex I deficiency 26 Aliases: MC1DN26	Ndufa9	66108	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10952	nephritis	Ace Agtr1a Ccl2 Cxcr2 Icam1 Ifng Il4 Nos3 Parp1	24180 24310 24600 24770 25464 25591 25712 287287 29385	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	Actbeta Ptp69D eys kdn ninaE	31579 3771890 39443 42367 43826	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	dpp	33432	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111574	autosomal recessive woolly hair 3 Aliases: ARWH3	KRT25	147183	Homo sapiens (human)	Alliance of Genome Resources
DOID:2835	polycythemia due to hypoxia	Pxk	218699	Mus musculus (house mouse)	Alliance of Genome Resources

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