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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 **576 - 600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080000	muscular disease	CPT2	38355	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080000	muscular disease	ACACA ACACB CPT2 FASN LPL	1376 2194 31 32 4023	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	Idh2	269951	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	Idh2	361596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	IDP2 IDP3	850871 855723	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	Lrp5	16973	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	Tsp	33941	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	Gnptab	432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080070	mucolipidosis II alpha/beta Aliases: I-cell disease inclusion-cell disease mucolipidosis II	gnptab	553365	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	Gnptab	432486	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	gnptab	553365	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080108	myoglobinuria	Pgam2	56012	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080108	myoglobinuria	GPM1	853705	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080108	myoglobinuria	Pgam2	24959	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	N	31293	Drosophila melanogaster (fruit fly)	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	315219	Rattus norvegicus (Norway rat)	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	72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	Piga	18700	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	piga.L	108707921	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	piga-1	174386	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	SPT14	855928	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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