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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 **10201 - 10225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	Plec	18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q Aliases: LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, type 2Q	Plec	18810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	PlexB enok sfl sog	32498 37859 38736 43766	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111592	plasminogen deficiency type I Aliases: hypoplasminogenemia	Plg	18815	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070205	familial partial lipodystrophy type 4 Aliases: FPLD4 PLIN1-related FPLD PLIN1-related familial partial lipodystrophy familial partial lipodystrophy associated with PLIN1 mutations	Plin1	103968	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110324	hypertrophic cardiomyopathy 18 Aliases: CMH18 cardiomyopathy familial hypertrophic 18	Pln	64672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110439	dilated cardiomyopathy 1P Aliases: CMD1P	Pln	64672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	Pln	64672	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	Plod Zip99C beta3GalTII beta4GalT7	35848 39265 42991 43533	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod	39265	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod	39265	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	Plod1	18822	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod2	26432	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110773	hereditary spastic paraplegia 2 Aliases: SPG2 X-linked spastic paraplegia 2 spastic paraplegia type 2	Plp1	18823	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	Plp1	18823	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080769	early-onset vitamin B6-dependent epilepsy 1 Aliases: EPEO1 PDE-PLPBP	Plpbp	114863	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	Plvap	56765	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Pmm2	39436	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110153	Charcot-Marie-Tooth disease type 1E Aliases: CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	Pmp22	18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110153	Charcot-Marie-Tooth disease type 1E Aliases: CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness	Pmp22	24660	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	Pmp22	24660	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	Pmp22	24660	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080061	autosomal recessive spinocerebellar ataxia 2 Aliases: SCAR2	Pmpca	66865	Mus musculus (house mouse)	Alliance of Genome Resources

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