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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 **14401 - 14425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
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:0070436	hyperphosphatasia with impaired intellectual development syndrome 4 Aliases: GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6	pgap3	779696	Xenopus tropicalis (tropical clawed frog)	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	galc	779723	Xenopus tropicalis (tropical clawed frog)	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	galc	779723	Xenopus tropicalis (tropical clawed frog)	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	galc	779723	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	galc	779723	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	Sbf1	77980	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	b3glct	780006	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0112184	thyroid dyshormonogenesis 5 Aliases: TDH5 genetic defect in thyroid hormonogenesis 5	duoxa1	780018	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	slc17a7	780064	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	mfsd2a	780091	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	mfsd2a	780091	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	abcb6	780100	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	creb3l4	780164	Xenopus tropicalis (tropical clawed frog)	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	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	mpz	780198	Xenopus tropicalis (tropical clawed frog)	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	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:9743	diabetic neuropathy	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110158	Charcot-Marie-Tooth disease type 2I Aliases: CMT2I Charcot-Marie-Tooth neuropathy type 2I	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	mpz	780198	Xenopus tropicalis (tropical clawed frog)	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	780198	Xenopus tropicalis (tropical clawed frog)	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	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	slc2a10	780388	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0110818	hereditary spastic paraplegia 73 Aliases: SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73	Cpt1c	78070	Mus musculus (house mouse)	Alliance of Genome Resources

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