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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 **9026 - 9050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:9248	Pallister-Hall syndrome	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1148	polydactyly Aliases: postaxial polydactyly	Gli3 Shh	14634 20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110873	holoprosencephaly 9 Aliases: HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features	Gli2	14633	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080328	Culler-Jones syndrome	Gli2	14633	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	Gli2 Nog Shh	14633 18121 20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080016	spina bifida	Gli2 Mthfd1 Ptch1 Zic3	108156 14633 19206 22773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	Gldc	104174	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
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	Glb1	12091	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: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:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	Glb1	12091	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	Gk2 Gk	14626 14933	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	Gk	79223	Rattus norvegicus (Norway rat)	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: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:0050467	erythrokeratodermia variabilis Aliases: Erythrokeratodermia Figurata Variabilis Greither Disease	Gja1	14609	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:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	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: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

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