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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 **7851 - 7875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111949	immunodeficiency 36 Aliases: IMD36 activated phosphoinositide 3-kinase delta syndrome 2	Pik3r1	18708	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	TRE1 TRE2 VPS70	853590 854430 855927	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	Tfrc	64678	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	Tfrc	22042	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:0111946	immunodeficiency 31C Aliases: CANDF7 IMD31C autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome autosomal dominant chronic mucocutaneous familial candidiasis autosomal dominant immunodeficiency 31C familial candidiasis 7	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111945	immunodeficiency 31A Aliases: IMD31A MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency autosomal dominant immunodeficiency 31A, mycobacteriosis	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111944	immunodeficiency 31B Aliases: IMD31B autosomal recessive STAT1 deficiency autosomal recessive immunodeficiency 31B, mycobacterial and viral infections predisposition to severe viral infection due to STAT1 deficiency susceptibility to viral and mycobacterial infections due to STAT1 deficiency	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111943	immunodeficiency 48 Aliases: IMD48 combined immunodeficiency due to ZAP70 deficiency zeta-associated-protein 70 deficiency	ZAP70	7535	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: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:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	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
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	22163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	18655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	pgk-1	171965	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	850370	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk	33461	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	Pgk1	24644	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation Aliases: neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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