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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 **6901 - 6925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	Ghrhr	14602	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	Ghrhr Igf1r Ins1 Insrr	24505 25321 25718 60663	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	Ghrhr	25321	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	Ghsr	208188	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3390	palmoplantar keratosis Aliases: Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas	Gja1 Jup	14609 16480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	Gja1 Tgfb1	14609 21803	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080249	erythrokeratodermia variabilis et progressiva 3	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080802	autosomal recessive craniometaphyseal dysplasia	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111244	palmoplantar keratoderma and congenital alopecia 1 Aliases: PPK-CA, Stevanovic type PPKCA Stevanovic type PPKCA1 autosomal dominant palmoplantar hyperkeratosis and congenital alopecia autosomal dominant palmoplantar keratoderma and congenital alopecia keratoderma-hypotrichosis-leukonychia totalis syndrome palmoplantar keratoderma and congenital alopecia, Stevanovic type	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111817	syndactyly type 3 Aliases: SDTY3 ringand little finger syndactyly syndactyly of fingers 4 and 5 syndactyly, type III	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050467	erythrokeratodermia variabilis Aliases: Erythrokeratodermia Figurata Variabilis Greither Disease	Gja1	14609	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	Gjb6 Nectin1 Pkp1 Wnt10a	14623 18772 22409 58235	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110476	autosomal recessive nonsyndromic deafness 1B Aliases: DFNB1B autosomal recessive deafness 1B	Gjb6	14623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	Gjb6	14623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110475	autosomal recessive nonsyndromic deafness 1A Aliases: DFNB1A autosomal recessive deafness 1A	Gjb6	14623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110565	autosomal dominant nonsyndromic deafness 3B Aliases: DFNA3B autosomal dominant deafness 3B	Gjb6	14623	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	Gk	79223	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	Gk2 Gk	14626 14933	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111392	mucopolysaccharidosis type IVB Aliases: MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio)	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	GlcAT-I	251900	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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