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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 **2276 - 2300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	csf1ra fgf8b	64274 65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	ABCG5 ABCG8	64240 64241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	STRA6	64220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	P3H1	64175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	poglut1	641495	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110892	inflammatory bowel disease 1 Aliases: IBD1	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	SLC39A8	64116	Homo sapiens (human)	Alliance of Genome Resources
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	BLM	641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060861	microphthalmia with limb anomalies Aliases: MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome	SMOC1	64093	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060861	microphthalmia with limb anomalies Aliases: MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome	Smoc1	64075	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112008	pituitary adenoma 5 Aliases: PITA5 pituitary adenoma 5, multiple types	CDH23	64072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110467	autosomal recessive nonsyndromic deafness 12 Aliases: DFNB12 autosomal recessive deafness 12	CDH23	64072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	CDH23 PCDH15	64072 65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	Pygl	64035	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3650	lactic acidosis	Dlat Pygl	64035 81654	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060575	3MC syndrome 1	Masp1	64023	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110794	hereditary spastic paraplegia 42 Aliases: SPG42 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42	Slc33a1	64018	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4 Aliases: EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080979	arthrogryposis multiplex congenita-3	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources

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