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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 **4326 - 4350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0080089	tubular aggregate myopathy 1	Stim	32556	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12387	nephrogenic diabetes insipidus	Stim	32556	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111970	immunodeficiency 10 Aliases: CID due to STIM1 deficiency IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2	Stim	32556	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080837	growth hormone insensitivity syndrome with immune dysregulation 2	Stat5b	20851	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080909	castration-resistant prostate carcinoma	Stat5a	20850	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080836	growth hormone insensitivity syndrome with immune dysregulation 1	Stat5a Stat5b	20850 20851	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	Stat3	20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9997	peripartum cardiomyopathy Aliases: antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy	Stat3	20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	83505	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	20454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	64445	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	64445	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	20441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	20441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060720	autosomal recessive congenital ichthyosis 11 Aliases: IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome	St14	19143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060249	scoliosis	Sspo	474348	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Aliases: FTDALS3	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081363	distal myopathy with rimmed vacuoles	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081366	Paget's disease of bone 3 Aliases: Paget disease of bone-3	Sqstm1	18412	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5408	Paget's disease of bone Aliases: Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans	Sqstm1 Tnfrsf11a Tnfrsf11b	18383 18412 21934	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	Sptlc2	20773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	Sptlc2	20773	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050882	spinocerebellar ataxia type 5	Sptbn1	20742	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110916	hereditary spherocytosis type 1 Aliases: HS1 SPH1 hereditary spherocytosis 1	Spta1	20739	Mus musculus (house mouse)	Alliance of Genome Resources

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