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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 **1076 - 1100** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080096	myofibrillar myopathy 5 Aliases: filaminopathy	FLNA FLNB FLNC	2316 2317 2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080097	myofibrillar myopathy 6	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080105	microcephaly and chorioretinopathy 1	TUBGCP6	85378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080107	microcephaly and chorioretinopathy 3	TUBGCP4	27229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080108	myoglobinuria	LPIN1 LPIN2 LPIN3 PGAM2	23175 5224 64900 9663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	NOTCH3 PDGFRB	4854 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	CHRNG	1146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080114	mitochondrial complex III deficiency nuclear type 5	UQCRC2	7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080118	mitochondrial complex III deficiency nuclear type 9	UQCC3	790955	Homo sapiens (human)	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: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	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLG1	8802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080131	mitochondrial DNA depletion syndrome 13 Aliases: FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 13, encephalomyopathic type	FBXL4	26235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1 Aliases: NFU1 deficiency	NFU1	27247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080135	multiple mitochondrial dysfunctions syndrome 3 Aliases: IBA57 deficiency	IBA57	200205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080136	multiple mitochondrial dysfunctions syndrome 4	ISCA2	122961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens (human)	Glyco-Disease Genes Database 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	5277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080141	mosaic variegated aneuploidy syndrome 1	BUB1B	701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080142	mosaic variegated aneuploidy syndrome 2	CEP57	9702	Homo sapiens (human)	Alliance of Genome Resources

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