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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 **10651 - 10675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	Ror2	26564	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060036	intrinsic cardiomyopathy	RpS3	42761	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	Rpgr	19893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112157	X-linked atrophic macular degeneration	Rpgr	19893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections Aliases: primary ciliary dyskinesia-retinitis pigmentosa syndrome	Rpgr	19893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111008	X-linked cone-rod dystrophy 1 Aliases: COD1 CORDX1 X-linked cone dystrophy 1	Rpgr	19893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	Rph3a Tufm	171039 293481	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111892	Diamond-Blackfan anemia 11 Aliases: DBA11 RPL26-related Diamond-Blackfan anemia	Rpl26	19941	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111883	Diamond-Blackfan anemia 5 Aliases: DBA5 RPL35A-related Diamond-Blackfan anemia	Rpl35a	57808	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	Rps14	20044	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111888	Diamond-Blackfan anemia 10 Aliases: DBA10 RPS26-related Diamond-Blackfan anemia	Rps26	27370	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3783	Coffin-Lowry syndrome	Rps6ka1	20111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12558	chronic progressive external ophthalmoplegia Aliases: progressive external ophthalmoplegia	Rrm1 Slc25a4	11739 20133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	Rspo2	239405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080082	nonsyndromic congenital nail disorder 4 Aliases: HYPONYCHIA CONGENITA anonychia congenita	Rspo4	228770	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110765	hereditary spastic paraplegia 12 Aliases: SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12	Rtn1 Rtn3 Rtn4	104001 20168 68585	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	Rtn4ip1	170728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3033	colon signet ring adenocarcinoma Aliases: Colonic Signet Ring adenocarcinoma	Runx1	50662	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Runx2	12393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	Runx2	12393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	Rxylt1	216395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	Rxylt1	299841	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	Ryr1 Ryr2	20190 20191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080991	congenital myopathy 1B Aliases: multiminicore disease	Ryr1	20190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	Ryr1	20190	Mus musculus (house mouse)	Alliance of Genome Resources

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