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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 **1851 - 1875** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110849	xeroderma pigmentosum group G Aliases: XP group G XP7 XPG xeroderma pigmentosum VII	ERCC5	2073	Homo sapiens (human)	Alliance of Genome Resources
DOID:987	alopecia	BDNF CDSN DSG4 FAR2 HLA-B KRT71 PRSS8	1041 112802 147409 3106 55711 5652 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	HLA-DQB1 HLA-DRB1 TLR2	3119 3123 7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	EGR2	1959	Homo sapiens (human)	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CFTR MBL2 MMP9 TAP1 TNF	1080 4153 4318 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	DOT1L	84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:4988	alcoholic pancreatitis	CCK CFTR UGT1A7	1080 54577 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	LDB3 MBNL1 MBNL2 SIX4 SIX5	10150 11155 147912 4154 51804	Homo sapiens (human)	Alliance of Genome Resources
DOID:769	neuroblastoma	ALK ARID1A CD55 CHAF1A IGF1R KIF1B LLGL1 LLGL2 LTK NME1 NODAL NSD1 NTRK1 PECAM1 SCNN1A SNRPE	10036 1604 23095 238 3480 3993 3996 4058 4830 4838 4914 5175 6337 64324 6635 8289	Homo sapiens (human)	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:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	GNS HGSNAT SGSH	138050 2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:13514	venous tributary occlusion of retina Aliases: Venous tributary (branch) occlusion of retina Venous tributary branch occlusion of retina	ITGA2 SERPINF1	3673 5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ALX4 BBS9 FGFR2 FGFR3 FLNA NELL1 NOG SKI TCF12 TWIST1	2261 2263 2316 27241 4745 60529 6497 6938 7291 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110415	retinitis pigmentosa 2 Aliases: RP2	ARL3	403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060247	Smith-McCort dysplasia	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	FGF17	8822	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060680	pigment dispersion syndrome Aliases: glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma	COL18A1 GPNMB	10457 80781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)	Alliance of Genome Resources
DOID:2862	glucosephosphate dehydrogenase deficiency Aliases: Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD	IFNG IL10 IL6 SLC4A1	3458 3569 3586 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050449	pachyonychia congenita Aliases: Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1	KRT17	3872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	FZD4	8322	Homo sapiens (human)	Alliance of Genome Resources

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