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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 **5576 - 5600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080452	developmental and epileptic encephalopathy 28 Aliases: DEE28 early infantile epileptic encephalopathy 28	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080060	autosomal recessive spinocerebellar ataxia 12 Aliases: SCAR12	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110330	Leber congenital amaurosis 13 Aliases: LCA13	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	ENV9	854420	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	EPAS1 MMP3 SLC18A1	2034 4314 6570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080339	familial erythrocytosis 4 Aliases: ECYT4	EPAS1	2034	Homo sapiens (human)	Alliance of Genome Resources
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	EPB41 SLC4A1	2035 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	EPB41L1	2036	Homo sapiens (human)	Alliance of Genome Resources
DOID:3565	meningioma Aliases: meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor	EPB41L3 HGF KMT2D MN1 SMARCB1 SMARCE1 SPON2 XRCC1	10417 23136 3082 4330 6598 6605 7515 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110920	hereditary spherocytosis type 5 Aliases: HS5 SPH5 hereditary spherocytosis 5	EPB42	2038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8 Aliases: HNPCC8	EPCAM MSH2	4072 4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	EPCAM	4072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060356	Vici syndrome Aliases: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum	EPG5	57724	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	EPHA2	1969	Homo sapiens (human)	Alliance of Genome Resources
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	EPHB4 LGMN	2050 5641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	EPHB4	2050	Homo sapiens (human)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	EPM2A GYS1 GYS2 NHLRC1	2997 2998 378884 7957	Homo sapiens (human)	Alliance of Genome Resources
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	EPM2A OPTN SCARB2 SEMA6B	10133 10501 7957 950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	EPOR	2057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070398	hypomyelinating leukodystrophy 15 Aliases: HLD15	EPRS1	2058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110463	autosomal recessive nonsyndromic deafness 102 Aliases: DFNB102 autosomal recessive deafness 102	EPS8	2059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080261	autosomal recessive nonsyndromic deafness 106	EPS8L2	64787	Homo sapiens (human)	Alliance of Genome Resources
DOID:9415	allergic asthma Aliases: extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus	EPX HLA-B HLA-C HLA-DPA1 HLA-DPB1 HLA-DRB1	3106 3107 3113 3115 3123 8288	Homo sapiens (human)	Alliance of Genome Resources

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