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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 **10826 - 10850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:589	congenital hemolytic anemia Aliases: congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia	Pgi	35886	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	AQP2 SERPINA7	359 6906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081061	nephrogenic diabetes insipidus type 2 Aliases: autosomal nephrogenic diabetes insipidus-2	AQP2	359	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060859	salmonellosis Aliases: Salmonella infection	IL12B	3593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111950	immunodeficiency 29 Aliases: IL12B deficiency IMD29 MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency immunodeficiency 29, mycobacteriosis	IL12B	3593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111990	immunodeficiency 30 Aliases: IMD30 MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	IL12RB1	3594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	VhaAC45	35944	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3326	purpura Aliases: Purpuric disorder	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:4378	peanut allergy Aliases: allergy to peanuts peanut allergic reaction	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:4376	milk allergy Aliases: milk allergic reaction	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	Wnt2	35975	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	Wnt2	35975	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112181	Schinzel type phocomelia Aliases: AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit	Wnt2	35975	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	Wnt2	35975	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050461	aspartylglucosaminuria Aliases: aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency	CG1827	35989	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081156	common variable immunodeficiency 14	IRF2BP2	359948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	sqa	36002	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111457	STING-associated vasculopathy with onset in infancy Aliases: SAVI	Sting	36016	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080269	autosomal dominant nonsyndromic deafness 73	Ptprq	360417	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110529	autosomal recessive nonsyndromic deafness 84A Aliases: DFNB84A autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction	Ptprq	360417	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	Alg1	360475	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060189	ileitis Aliases: Crohn's ileitis	IL17A SERPINA1 TLR2 TLR4	3605 5265 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:2755	Mycobacterium avium complex disease Aliases: Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex	ADIPOQ IL17A TNF	3605 7124 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	egr	36054	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	egr	36054	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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