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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 **10601 - 10625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110864	congenital stationary night blindness 1F Aliases: CSNB1F congenital stationary night blindness 1F autosomal recessive	LRIT3	345193	Homo sapiens (human)	Alliance of Genome Resources
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060222	Scheie syndrome Aliases: mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V	Idua	34544	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111994	immunodeficiency 45 Aliases: IMD45	IFNAR2	3455	Homo sapiens (human)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 MYH11 PTGIS TFAP2B	345651 4629 5740 58 59 60 70 7021 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1	345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1	345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:4692	endophthalmitis	FAS IFNG TNF	3458 355 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:11121	pulpitis Aliases: pulp stones	IFNG IL1R1 TLR4	3458 3554 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ATM ATR BAX HDAC4 IFNG IL2 IL6	3458 3558 3569 472 545 581 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:1884	viral hepatitis Aliases: Viral hepatitis with hepatic coma animal viral hepatitis human viral hepatitis	IFNG IL2 STAT4 TERT	3458 3558 6775 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:2862	glucosephosphate dehydrogenase deficiency Aliases: Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD	IFNG IL10 IL6 SLC4A1	3458 3569 3586 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	IFNG TLR2 TLR4	3458 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080325	tuberous sclerosis 2	IFNG TSC2	3458 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:11077	brucellosis Aliases: Maltese fever undulant fever	CD163 IFNG	3458 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:9123	eczema herpeticum Aliases: Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis	IFNG	3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	IFNG	3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112006	immunodeficiency 69 Aliases: IMD69	IFNG	3458	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: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: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:0110384	retinitis pigmentosa 25 Aliases: RP25	EYS	346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	CG31760	34642	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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