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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1326 - 1350** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080108	myoglobinuria	CPT2 HADH HADHA HADHB LDHA LPIN1 LPIN2 LPIN3 PGAM2 PGK1 PYGM	1376 23175 3030 3032 3033 3939 5224 5230 5837 64900 9663	Homo sapiens (human)
DOID:0080108	myoglobinuria	Pgam2	24959	Rattus norvegicus (Norway rat)
DOID:0080108	myoglobinuria	GPM1	853705	Saccharomyces cerevisiae S288C
DOID:0080108	myoglobinuria	Pgam2	56012	Mus musculus (house mouse)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	N	31293	Drosophila melanogaster (fruit fly)
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	ACHE GBE1	2632 43	Homo sapiens (human)
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)
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)
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)
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	Homo sapiens (human)
DOID:0080123	mitochondrial DNA depletion syndrome 4b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome	TYMP	1890	Homo sapiens (human)
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2 SUCLG1 TYMP	1890 8802 8803	Homo sapiens (human)
DOID:0080127	mitochondrial DNA depletion syndrome 8a Aliases: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	TYMP	1890	Homo sapiens (human)
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK CS	1431 55750	Homo sapiens (human)
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens (human)
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
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	100158632	Xenopus tropicalis (tropical clawed frog)
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)
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
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)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIG-A	37020	Drosophila melanogaster (fruit fly)
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	791759	Danio rerio (zebrafish)
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	5277	Homo sapiens (human)

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