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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 **3601 - 3625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:422	congenital structural myopathy	ACTB MTM1	4534 60	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	4534 55613 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	trol	45320	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	fz	45307	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	Nckx30C	45248	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080633	developmental cardiac valvular defect	MTHFD1 PLD1 PLD2	4522 5337 5338	Homo sapiens (human)	Alliance of Genome Resources
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	COX1 COX4I2	4512 84701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MTAP	4507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	alg14	450072	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l	449663	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	galca	449649	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	galca	449649	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	galca	449649	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11266	Hantavirus hemorrhagic fever with renal syndrome Aliases: HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2938	Epstein-Barr virus infectious disease Aliases: EBV Infection Epstein-Barr virus infection	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	mys	44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080042	autosomal recessive spinocerebellar ataxia 18 Aliases: SCAR18	grid2	448841	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	pon2	448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	pon2	448598	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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