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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 **11151 - 11175** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	Sfrp4	89803	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Runx2	12393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111514	metatropic dysplasia Aliases: metatropic dwarfism	Trpv4	63873	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:10783	methemoglobinemia	CBR1	854768	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcfc1	15161	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	Hcf	43788	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	HCFC1	3054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	Cd320	362851	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	CD320	51293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	Cd320	54219	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	MCEE MMAB MMUT	326625 4594 84693	Homo sapiens (human)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	Prdx1	18477	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	PRDX1 THAP11	5052 57215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	Lmbrd1	68421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	Lmbrd1	246046	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	LMBRD1	55788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	lmbrd1	779630	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	lmbrd1	323720	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	lmbrd1.L	398468	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	Alliance of Genome Resources

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