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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 **14601 - 14625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111030	hemochromatosis type 3 Aliases: HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2	TFR2	7036	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	KDR PIK3CA PTPRB	3791 5290 5787	Homo sapiens (human)	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis Aliases: lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis	Gapdh1 Gapdh2	32545 35728	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	GPI2	856029	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O Aliases: Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O	Dync1h1	13424	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10457	Legionnaires' disease Aliases: Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease	Mbl2 Tlr5	17195 53791	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	Ndst1 Tgfbr2 Vegfa	29633 81810 83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8805	intermediate coronary syndrome Aliases: Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina	Ace Agtr1a Agtr1b Akt1 Bdnf F7 Hmgcr Itga2 Itgam Itih4 Mmp1a Selp Serpinc1 Sod3	11421 11607 11608 11651 11905 12064 14068 15357 16398 16409 16427 20344 20657 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10939	antisocial personality disorder Aliases: Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality	Htr1b	25075	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	ABO ADAMTS13 CAST CYP2C19 FCGR2A G6PD HLA-DQB1 HP IL13 MBL2 TNF	11093 1557 2212 2539 28 3119 3240 3596 4153 7124 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	ergic1	567774	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	oxt	38288	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3612	retinitis	MIF	4282	Homo sapiens (human)	Alliance of Genome Resources
DOID:10376	amblyopia Aliases: lazy eye	Egfr	37455	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112354	spermatogenic failure 65 Aliases: SPGF65	DNHD1	144132	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MNS1	853595	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:76	stomach disease Aliases: Gastropathy stomach disorder	Calca H2-Ab1 Muc5ac	12310 14961 17833	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11339	pneumocystosis Aliases: Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis	C3 Ccl2 Csf2	116630 24232 24770	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	Fktn	246179	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	Gabbr2	83633	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111436	optic atrophy 11 Aliases: OPA11	YME1L1	10730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	Plcb3	18797	Mus musculus (house mouse)	Alliance of Genome Resources

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