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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 **6076 - 6100** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
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: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: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	15980	Mus musculus (house mouse)	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: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: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: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: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:0111938	immunodeficiency 24 Aliases: IMD24 SCID due to CTPS1 deficiency severe combined immunodeficiency due to CTPS1 deficiency	CTPS1	1503	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	PGM3	5238	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:0111947	immunodeficiency 21 Aliases: DCML GATA2 deficiency IMD21 MonoMAC combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections dendritic cell, monocyte, B and NK lymphoid deficiency monocyte-B-natural killer-dendritic cell deficiency syndrome monocytopenia and mycobacterial infection syndrome monocytopenia with susceptibility to infections	GATA2	2624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	Fcgr3a	304966	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	FCGR3A	2214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	Fcgr4	246256	Mus musculus (house mouse)	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	25710	Rattus norvegicus (Norway rat)	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: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	12500	Mus musculus (house mouse)	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	300678	Rattus norvegicus (Norway rat)	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	12502	Mus musculus (house mouse)	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:0111935	immunodeficiency 16 Aliases: IMD16 OX40 deficiency combined immunodeficiency due to OX40 deficiency combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8	Tnfrsf4	22163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111935	immunodeficiency 16 Aliases: IMD16 OX40 deficiency combined immunodeficiency due to OX40 deficiency combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8	TNFRSF4	7293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111935	immunodeficiency 16 Aliases: IMD16 OX40 deficiency combined immunodeficiency due to OX40 deficiency combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8	Tnfrsf4	25572	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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