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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3526 - 3550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0090029	CINCA Syndrome Aliases: IOMID syndrome NOMID syndrome Prieur-Griscelli syndrome chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cryopyrin-associated periodic syndrome 3 infantile-onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease	FCGR3B PLCG2 RPE	2215 5336 6120	Homo sapiens (human)
DOID:0060831	Griscelli syndrome Aliases: Chediak-Higashi-like syndrome Griscelli-Prunieras syndrome partial albinism-immunodeficiency syndrome	FCGR3B IDS	2215 3423	Homo sapiens (human)
DOID:9848	endolymphatic hydrops Aliases: labyrinthine hydrops	FCGR3B HPGDS MICA NT5E PARP1	100507436 142 2215 27306 4907	Homo sapiens (human)
DOID:9849	Meniere's disease Aliases: Meniere disease Mnire's vertigo Otogenic vertigo	FCGR3B HPGDS MICA NT5E PARP1	100507436 142 2215 27306 4907	Homo sapiens (human)
DOID:6867	mediastinal gray zone lymphoma	FCER2	2208	Homo sapiens (human)
DOID:6262	follicular dendritic cell sarcoma Aliases: Follicular Dendritic cell sarcoma Follicular dendritic cell tumour	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma Aliases: B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:7848	interdigitating dendritic cell sarcoma Aliases: Interdigitating cell sarcoma	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:7146	Langerhans cell sarcoma	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	FCER2 FUT1 G6PC3 G6PD PGK1 PKD2	2208 2523 2539 5230 5311 92579	Homo sapiens (human)
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	851092	Saccharomyces cerevisiae S288C
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	2203	Homo sapiens (human)
DOID:297	pleomorphic adenoma carcinoma Aliases: carcinoma ex pleomorphic adenoma carcinoma in pleomorphic adenoma	FASN	2194	Homo sapiens (human)
DOID:2174	ocular cancer Aliases: Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper	FASN LIPG	2194 9388	Homo sapiens (human)
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	FASN GNPTAB HACD1 IL18R1 PIK3CA PIK3CB PIK3CD PIK3CG	2194 5290 5291 5293 5294 79158 8809 9200	Homo sapiens (human)
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	FAR1	84188	Homo sapiens (human)
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	F52B11.2	178364	Caenorhabditis elegans
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	F52B11.2 algn-1 algn-3 bre-4	175065 175920 178364 190668	Caenorhabditis elegans
DOID:0050570	congenital disorder of glycosylation type I	F52B11.2 ZK632.4 algn-12 algn-1 algn-5 algn-6 algn-8 algn-9 dpm-1	174542 174633 175920 176388 176874 178364 178822 179185 182392	Caenorhabditis elegans
DOID:0050565	autosomal recessive nonsyndromic deafness	F38B6.6	185454	Caenorhabditis elegans
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	Ext1 Ext2 Extl1 Extl3	299907 311215 313610 56819	Rattus norvegicus (Norway rat)
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	Ext1 Ext2 Extl1 Extl3	14042 14043 54616 56219	Mus musculus (house mouse)
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	Epm2a	13853	Mus musculus (house mouse)

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