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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 **7201 - 7225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
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	4359	Homo sapiens (human)	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	4359	Homo sapiens (human)	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	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	MPL	4352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	MPI	4351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	MPDU1	9526	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:114	heart disease	MOT2 PGI1	852495 856799	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060399	chromosome 16p12.1 deletion syndrome	MOSMO POLR3E UQCRC2	55718 730094 7385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z Aliases: CMT2Z Charcot-Marie-Tooth neuropathy type 2Z autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z	MORC2	22880	Homo sapiens (human)	Alliance of Genome Resources
DOID:1595	melancholic depression Aliases: endogenous depression major depressive disorder with melancholic features melancholia	MORC1	27136	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	MOGS	7841	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070453	xanthinuria type II Aliases: XAN2	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070314	obstructive nephropathy Aliases: CON congenital obstructive nephropathy	MOCOS	55034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111546	Currarino syndrome Aliases: Currarino triad	MNX1	3110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	MNT PAFAH1B1 YWHAE	4335 5048 7531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MNS1	853595	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112113	combined oxidative phosphorylation deficiency 45 Aliases: COXPD45	MNP1	852811	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	MNL1 NFT1 STE6 YOR1	853198 853671 853978 856611	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4586	familial meningioma	MN1 PDGFB PTEN SMARCE1	4330 5155 5728 6605	Homo sapiens (human)	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	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	MMP9	4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:8881	rosacea Aliases: Acne roscea Acne, erythematosa	MMP9	4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:4250	conjunctivochalasis	MMP3 MMP9	4314 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	MMP20	9313	Homo sapiens (human)	Alliance of Genome Resources
DOID:255	hemangioma	MMP2 SLC2A1	4313 6513	Homo sapiens (human)	Alliance of Genome Resources

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