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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 **9826 - 9850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)	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	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy Aliases: epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLEC	5339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110945	autosomal recessive osteopetrosis 6 Aliases: OPTB6 autosomal recessive osteopetrosis intermediate form	PLEKHM1	9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111592	plasminogen deficiency type I Aliases: hypoplasminogenemia	PLG	5340	Homo sapiens (human)	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	5346	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	PLOD1	5351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	PLOD1	5351	Homo sapiens (human)	Glyco-Disease Genes Database
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	PLOD2	5352	Homo sapiens (human)	Glyco-Disease Genes Database 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	5354	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110773	hereditary spastic paraplegia 2 Aliases: SPG2 X-linked spastic paraplegia 2 spastic paraplegia type 2	PLP1	5354	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112167	autosomal dominant nonsyndromic deafness 76 Aliases: DFNA76	PLS1	5357	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111922	spermatogenic failure 31 Aliases: SPGF31	PMFBP1	83449	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	PMI40	856720	Saccharomyces cerevisiae S288C	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	5376	Homo sapiens (human)	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	5376	Homo sapiens (human)	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	5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080061	autosomal recessive spinocerebellar ataxia 2 Aliases: SCAR2	PMPCA	23203	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070332	multiple mitochondrial dysfunctions syndrome 6	PMPCB UQCRC1	7384 9512	Homo sapiens (human)	Alliance of Genome Resources

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