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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 **1801 - 1825** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110027	age related macular degeneration 15 Aliases: ARMD15	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110028	age related macular degeneration 5 Aliases: ARMD5	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110032	autosomal dominant Alport syndrome	COL4A3 MYH9	1285 4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110033	autosomal recessive Alport syndrome	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110034	X-linked Alport syndrome Aliases: nephropathy and deafness, X-linked	COL4A5	1287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110035	Alzheimer's disease 2 Aliases: AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE4 Alzheimer disease-2	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110050	Alzheimer's disease 18 Aliases: AD18 Alzheimer disease 18 Alzheimer's disease 18, late onset	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110054	amelogenesis imperfecta type 1A Aliases: AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA	LAMB3	3914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	KLK4	9622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	MMP20	9313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3 Aliases: AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3	WDR72	256764	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110063	amelogenesis imperfecta hypomaturation type 2A5 Aliases: AI2A5 amelogenesis imperfecta hypomaturation type IIA5 amelogenesis imperfecta type IIA5	SLC24A4	123041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	ITGB6	3694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AMBN	258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	FAM20A	54757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Aliases: FTDALS3	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110070	arrhythmogenic right ventricular dysplasia 1 Aliases: ARVC1 Uhl anomaly arrhythmogenic right ventricular cardiomyopathy 1	TGFB3	7043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110074	arrhythmogenic right ventricular dysplasia 5 Aliases: ARVC5 ARVD5 arrhythmogenic right ventricular cardiomyopathy 5 familial arrhythmogenic right ventricular dysplasia 5	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110076	arrhythmogenic right ventricular dysplasia 8 Aliases: ARVC8 ARVD8 arrhythmogenic right ventricular cardiomyopathy 8 familial arrhythmogenic right ventricular dysplasia 8	DSP	1832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110077	arrhythmogenic right ventricular dysplasia 9 Aliases: ARVC9 ARVD9 arrhythmogenic right ventricular cardiomyopathy 9 familial arrhythmogenic right ventricular dysplasia 9	PKP2	5318	Homo sapiens (human)	Alliance of Genome Resources

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