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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 **7701 - 7725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACAD9 ACADL	28976 33	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112069	nuclear type mitochondrial complex I deficiency 22 Aliases: MC1DN22	Ndufa10 Ndufa10l1	316632 678759	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	Ndufs1	227197	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	Ndufs1	301458	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112066	nuclear type mitochondrial complex I deficiency 6 Aliases: MC1DN6	Ndufs2	289218	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis Aliases: IMD73A neutrophil immunodeficiency syndrome	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112063	X-Linked immunodeficiency 74 Aliases: IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection	Tlr7	170743	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112063	X-Linked immunodeficiency 74 Aliases: IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection	TLR7	51284	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Aliases: IMD73C	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Aliases: IMD73B	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112058	non-syndromic X-linked intellectual disability 41 Aliases: MRX41 MRX48 X-linked mental retardation 41 X-linked mental retardation 48	Gdi1	14567	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	THO2	855583	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	THOC2	57187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	Thoc2	331401	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	PAK3	5063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	STE20	856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112051	non-syndromic X-linked intellectual disability 30 Aliases: MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47	Pak3	18481	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	Acsl3	74205	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112045	non-syndromic X-linked intellectual disability 93 Aliases: MRX93 X-linked mental retardation 93 X-linked mental retardation with macrocephaly	BRWD3	254065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112045	non-syndromic X-linked intellectual disability 93 Aliases: MRX93 X-linked mental retardation 93 X-linked mental retardation with macrocephaly	Brwd3	382236	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112040	non-syndromic X-linked intellectual disability 100 Aliases: MRX100 X-linked mental retardation 100	KIF4A	24137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112040	non-syndromic X-linked intellectual disability 100 Aliases: MRX100 X-linked mental retardation 100	Kif4	16571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	Iqsec2	245666	Mus musculus (house mouse)	Alliance of Genome Resources

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