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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2851 - 2875** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	COMT	1312	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ADRB1 APOE MYOC OPTN TLR4 TNF TP53	10133 153 348 4653 7099 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060999	mitochondrial trifunctional protein deficiency 2 Aliases: MTPD2	HADHB	3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081020	congenital fibrosis of the extraocular muscles 5	COL25A1	84570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11 Aliases: DEE11 early infantile epileptic encephalopathy 11	SCN2A	6326	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 CA4 CAT CC2D2A CNGA1 CNGB1 CRB1 GUCY2D HK1 HKDC1 IMPG1 MFRP POMGNT1 PRPF3 PRPF8 PRPH2 PRPS1 RGR RHO RLBP1 SERPINF1 SNRNP200 SOD1 USH2A	10594 1258 1259 23020 23418 24 3000 3098 3617 5176 55624 5631 57545 5961 5995 6010 6017 6647 7399 762 80201 83552 847 9129	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5 Aliases: ENFL5 nocturnal frontal lobe epilepsy 5	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050887	Townes-Brocks syndrome	DACT1 SALL1	51339 6299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GANAB	23193	Homo sapiens (human)	Alliance of Genome Resources
DOID:4992	optic nerve glioma Aliases: glioma of the optic nerve	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060939	dystonia 32 Aliases: DYT32	VPS11	55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	DCTN1	1639	Homo sapiens (human)	Alliance of Genome Resources
DOID:12995	conduct disorder	AR DRD4 HTR1B	1815 3351 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	STAT4	6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	GALT	2592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050559	Fukuyama congenital muscular dystrophy	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	DAG1 SGCA	1605 6442	Homo sapiens (human)	Alliance of Genome Resources
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	EWSR1	2130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070243	primary coenzyme Q10 deficiency 6 Aliases: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness	COQ6	51004	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060371	Parkinson's disease 8 Aliases: autosomal dominant Parkinson disease 8 autosomal dominant Parkinson's disease 8	LRRK2	120892	Homo sapiens (human)	Alliance of Genome Resources

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