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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 **7651 - 7675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	INP53	854276	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5408	Paget's disease of bone Aliases: Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans	INPP5D OPTN SQSTM1 TNFRSF11A TNFRSF11B VCP	10133 3635 4982 7415 8792 8878	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:0050777	Joubert syndrome Aliases: JBTS	INPP5E	39404	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	56623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070220	familial hyperinsulinemic hypoglycemia 5 Aliases: HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050470	Donohue syndrome Aliases: Leprechaunism	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	INTS1	26173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080289	orofaciodigital syndrome XVII	INTU	27152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111113	nephronophthisis 2 Aliases: NPH2 NPHP2 infantile nephronophthisis 2	INVS	27130	Homo sapiens (human)	Alliance of Genome Resources
DOID:5052	melioidosis Aliases: Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis	IRAK3 PLAUR SERPINF1 TLR5 TREM1	11213 5176 5329 54210 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4 Aliases: ICF syndrome 4	IRC5	850599	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8557	oropharynx cancer Aliases: Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer	IRE1	856478	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	IRF2BP1 IRF2BP2 IRF2BPL	26145 359948 64207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081156	common variable immunodeficiency 14	IRF2BP2	359948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050744	anaplastic large cell lymphoma	IRF4 JUNB	3662 3726	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050749	peripheral T-cell lymphoma	IRF4 RC3H1	149041 3662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110895	inflammatory bowel disease 14 Aliases: IBD14	IRF5	3663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111969	immunodeficiency 39 Aliases: IMD39	IRF7	3665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111835	congenital nongoitrous hypothyroidism 9 Aliases: CHNG9	IRS4	8471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080136	multiple mitochondrial dysfunctions syndrome 4	ISCA2	122961	Homo sapiens (human)	Alliance of Genome Resources
DOID:2219	Glanzmann's thrombasthenia Aliases: BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli	ITGA2 ITGA2B ITGB3	3673 3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060573	von Willebrand's disease 1 Aliases: VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I	ITGA2 ITGA2B PLAT VWF	3673 3674 5327 7450	Homo sapiens (human)	Alliance of Genome Resources

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