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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 **9001 - 9025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:13714	anodontia Aliases: Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth	Mmp9	81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	Mmut	17850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	Mnt Ywhae	17428 22627	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	Mogs	57377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	Mogs	78947	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	Mosmo Uqcrc2	233812 67003	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	24070	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	Mpdu1	303244	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	Mpi Taldo1 Tpi1	110119 21351 21991	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	Mpi	110119	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	Mpi	300741	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	Mpl	17480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:161	keratosis	Mpo	17523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	Mpz Pmp22	17528 18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	Mpz	17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	Mpz Pmp22 Prx	24564 24660 78960	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Mpz	24564	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	Mpz	24564	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	Mpz	24564	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110152	Charcot-Marie-Tooth disease type 1B Aliases: CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy	Mpz	24564	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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