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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1501 - 1525** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	235582	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	15275	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	Phka2	110094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060189	ileitis Aliases: Crohn's ileitis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:399	tuberculosis	Tlr1 Tlr2 Tlr6 Tnf	21897 21899 21926 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	Adipoq Igf2 St6galnac1 Tnf	11450 16002 20445 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5419	schizophrenia Aliases: schizophrenia-1	Akt1 B3gat2 Chi3l1 Chst3 Comt Gsk3b Htr2a Man2a2 Ppara Tnf	11651 12654 12846 140481 15558 19013 21926 280645 53374 56637	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	B4galnt1	14421	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:252	alcoholic psychosis Aliases: Alcoholic psychoses	Htr2a	15558	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	Akt1 Akt2 Braf	109880 11651 11652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	Cry1	12952	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	Pgm3	109785	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	Ogg1	18294	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080554	congenital disorder of glycosylation Ib Aliases: congenital disorder of glycosylation 1b	Mpi	110119	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080855	Parkinsonism	Bad Comt Eno2 Gba1 Gsk3a Kcnj11	12015 12846 13807 14466 16514 606496	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	Alg12 Alg1 Alg5 Alg6 Alg8 Alg9 Dpm1 Dpm2 Mpi Pmm1 Pmm2	102580 110119 13480 13481 208211 223774 29858 320438 381903 54128 66248	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9351	diabetes mellitus Aliases: diabetes	Fuca1 G6pd2 G6pdx Gck Ins1 Ins2 Kcnj11 Ogt Pdx1 Tcf7l2 Tlr4	103988 108155 14380 14381 16333 16334 16514 18609 21416 21898 71665	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	Braf Chi3l1 Galc Ppargc1a Tlr4 Trp53	109880 12654 14420 19017 21898 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10211	cholelithiasis	Ugt1a1	394436	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090129	carnitine palmitoyltransferase I deficiency Aliases: CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency	Cpt1a	12894	Mus musculus (house mouse)	Alliance of Genome Resources

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