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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 **2726 - 2750** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111960	immunodeficiency 15A Aliases: IMD15A	IKBKB	3551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111961	immunodeficiency 26 Aliases: IMD26 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111962	combined immunodeficiency	COPG1	22820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	4173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111968	immunodeficiency 41 Aliases: CD25 deficiency IL2RA deficiency IMD41 immunodeficiency 41 with lymphoproliferation and autoimmunity immunodeficiency due to CD25 deficiency interleukin-2 receptor alpha chain deficiency	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111969	immunodeficiency 39 Aliases: IMD39	IRF7	3665	Homo sapiens (human)	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	STIM1	6786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111972	immunodeficiency 19 Aliases: CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	CD3D	915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111973	immunodeficiency 17 Aliases: CD3-gamma deficiency IMD17 SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive immunodeficiency 17, CD3 gamma deficient	CD3G	917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111974	immunodeficiency 59 Aliases: IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia	HYOU1	10525	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111975	immunodeficiency 44 Aliases: IMD44	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111976	immunodeficiency 9 Aliases: CID due to ORAI1 deficiency IMD9 combined immunodeficiency due to ORAI1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 1	ORAI1	84876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111979	immunodeficiency 49 Aliases: IMD49 SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities	BCL11B	64919	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111981	immunodeficiency 43 Aliases: B2M deficiency IMD43 beta-2-microglobulin deficiency hypercatabolic hypoproteinemia	B2M	567	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111982	immunodeficiency 56 Aliases: IL21R immunodeficiency IMD56 combined immunodeficiency due to IL21R deficiency	IL21R	50615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111983	immunodeficiency 52 Aliases: IMD52 severe combined immunodeficiency due to LAT deficiency	LAT	27040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111984	immunodeficiency 58 Aliases: IMD58 severe combined immunodeficiency due to CARMIL2 deficiency	CARMIL2	146206	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111988	immunodeficiency 12 Aliases: IMD12 combined immunodeficiency due to MALT1 deficiency	MALT1	10892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111989	immunodeficiency 35 Aliases: IMD35 TYK2 deficiency autosomal recessiv HIES with atypical mycobacteriosis autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis susceptibility to infection due to TYK2 deficiency tyrosine kinase 2 deficiency	TYK2	7297	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:0111992	immunodeficiency 53 Aliases: IMD53	RELB	5971	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111994	immunodeficiency 45 Aliases: IMD45	IFNAR2	3455	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111995	immunodeficiency 28 Aliases: IFNGR2 deficiency IMD28 MSMD due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency immunodeficiency 28, mycobacteriosis	IFNGR2	3460	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111996	immunodeficiency 51 Aliases: CANDF5 IMD51 familial candidiasis 5	IL17RA	23765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111997	immunodeficiency 63 Aliases: IL2RB deficiency IMD63 immunodeficiency 63 with lymphoproliferation and autoimmunity	IL2RB	3560	Homo sapiens (human)	Alliance of Genome Resources

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