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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 **2751 - 2775** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111998	immunodeficiency 66 Aliases: IMD66	MRTFA	57591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111999	immunodeficiency 61 Aliases: IMD61	SH3KBP1	30011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112001	immunodeficiency 50 Aliases: CID due to Moesin deficiency IMD50 MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency combined immunodeficiency due to Moesin deficiency immunodeficiency 50 X linked recessive	MSN	4478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112002	immunodeficiency 47 Aliases: CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features	ATP6AP1	537	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112006	immunodeficiency 69 Aliases: IMD69	IFNG	3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112007	growth hormone secreting pituitary adenoma 2 Aliases: GH-secreting pituitary adenoma 2 PITA2 X-linked acromegaly acromegaly due to pituitary adenoma 2	GPR101	83550	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112008	pituitary adenoma 5 Aliases: PITA5 pituitary adenoma 5, multiple types	CDH23	64072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112010	pituitary adenoma 3 Aliases: PITA3 pituitary adenoma 3, multiple types	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Aliases: OLMSX X-linked Olmsted syndrome	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112018	non-syndromic X-linked intellectual disability 104 Aliases: MRX104 X-linked mental retardation 104	FRMPD4	9758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112019	non-syndromic X-linked intellectual disability 19 Aliases: MRX19 X-linked mental retardation 19	RPS6KA3	6197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112021	non-syndromic X-linked intellectual disability ARX-related Aliases: ARX-related intellectual disability MRXARX X-linked mental retardation 29 X-linked mental retardation 29 and others X-linked mental retardation 32 X-linked mental retardation 33 X-linked mental retardation 38 X-linked mental retardation 43 X-linked mental retardation 52 X-linked mental retardation 54 X-linked mental retardation 76 X-linked mental retardation 87 X-linked mental retardation with or without seizures ARX-related	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	TSPAN7	7102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112029	non-syndromic X-linked intellectual disability 50 Aliases: MRX50 X-linked intellectual developmental disorder 50 X-linked mental retardation 50 XLID50	SYN1	6853	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112034	non-syndromic X-linked intellectual disability 9 Aliases: MRX44 MRX9 X-linked mental retardation 44 X-linked mental retardation 9	FTSJ1	24140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	SYP	6855	Homo sapiens (human)	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	ALX4 ARX IQSEC2	170302 23096 60529	Homo sapiens (human)	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: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: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

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