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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 **7826 - 7850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
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	25704	Rattus norvegicus (Norway rat)	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	17217	Mus musculus (house mouse)	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: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	856130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111962	combined immunodeficiency	COPG1	22820	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:0111960	immunodeficiency 15A Aliases: IMD15A	Ikbkb	16150	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111960	immunodeficiency 15A Aliases: IMD15A	IKBKB	3551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111959	immunodeficiency 15B Aliases: IMD15B	Ikbkb	16150	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111959	immunodeficiency 15B Aliases: IMD15B	IKBKB	3551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111958	immunodeficiency 11B Aliases: IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111957	immunodeficiency 11A Aliases: CARD11 deficiency IMD11A SCID due to CARD11 deficiency severe combined immunodeficiency due to CARD11 deficiency	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111956	immunodeficiency 27B Aliases: IMD27B autosomal dominant IFNGR1 deficiency autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency autosomal dominant immunodeficiency 27B, mycobacteriosis autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	IFNGR1	3459	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111956	immunodeficiency 27B Aliases: IMD27B autosomal dominant IFNGR1 deficiency autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency autosomal dominant immunodeficiency 27B, mycobacteriosis autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	Ifngr1	15979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111955	immunodeficiency 27A Aliases: IMD27A autosomal recessive IFNGR1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	IFNGR1	3459	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111955	immunodeficiency 27A Aliases: IMD27A autosomal recessive IFNGR1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	Ifngr1	15979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111954	immunodeficiency 60 Aliases: BACH2-related immunodeficiency and autoimmunity BRIDA IMD60	BACH2	60468	Homo sapiens (human)	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	PCM1	856652	Saccharomyces cerevisiae S288C	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: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	5238	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111952	immunodeficiency 57 Aliases: IMD57 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome immunodeficiency 57 with autoinflammation	RIPK1	8737	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111951	immunodeficiency 40 Aliases: DOCK2 deficiency IMD40	Dock2	94176	Mus musculus (house mouse)	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: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	16160	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111949	immunodeficiency 36 Aliases: IMD36 activated phosphoinositide 3-kinase delta syndrome 2	Pik3r1	25513	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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