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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 **9676 - 9700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	ECM1	1893	Homo sapiens (human)	Alliance of Genome Resources
DOID:14500	fucosidosis Aliases: A-fucosidase deficiency alpha fucosidase deficiency	W03G11.3	189173	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080119	mitochondrial DNA depletion syndrome 1 Aliases: mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related	TYMP	1890	Homo sapiens (human)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	SDHB TYMP VARS1	1890 6390 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	AKR1C3 ANXA1 AR AREG BRCA1 BRCA2 CASP6 ERBB2 ERBB3 ERBB4 FLT1 HIF1A KLK10 MMP2 MMP9 NOTCH4 PAK2 PGR PRKCA PTGES PTGS2 PTK2 RB1 RELA SOCS3 SRC ST14 STAT5A TERT TFF1 TOP2A TP53 TYMP VEGFA	1890 2064 2065 2066 2321 301 3091 367 374 4313 4318 4855 5062 5241 5578 5655 5743 5747 5925 5970 6714 672 675 6768 6776 7015 7031 7153 7157 7422 839 8644 9021 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:6406	double outlet right ventricle Aliases: Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect	CFC1 CFC1B ECE1	1889 55997 653275	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4752	multiple system atrophy Aliases: Shy-Drager syndrome	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly Aliases: SPATCCM	glt-4	188744	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	bgal-1	188583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	bgal-1	188583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	bgal-1	188583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	bgal-1	188583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:12804	mucopolysaccharidosis IV Aliases: Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency	bgal-1	188583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	bgal-1	188583	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110153	Charcot-Marie-Tooth disease type 1E Aliases: CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110520	autosomal recessive nonsyndromic deafness 7 Aliases: DFNB11 DFNB7 autosomal recessive deafness 7	tmc-1	188483	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110563	autosomal dominant nonsyndromic deafness 36 Aliases: DFNA36 autosomal dominant deafness 36	tmc-1	188483	Caenorhabditis elegans	Alliance of Genome Resources
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	lev-9	188252	Caenorhabditis elegans	Alliance of Genome Resources

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