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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2226 - 2250** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
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
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	Gucy2e	14919	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110079	Leber congenital amaurosis 8 Aliases: LCA8	Crb1	170788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110081	arrhythmogenic right ventricular dysplasia 10 Aliases: ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10	Dsg2	13511	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110081	arrhythmogenic right ventricular dysplasia 10 Aliases: ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10	DSG2	1829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110082	arrhythmogenic right ventricular dysplasia 11 Aliases: ARVC11 ARVD11 arrhythmogenic right ventricular cardiomyopathy 11 familial arrhythmogenic right ventricular dysplasia 11	DSC2	1824	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110083	arrhythmogenic right ventricular dysplasia 12 Aliases: ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12	Jup	16480	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110083	arrhythmogenic right ventricular dysplasia 12 Aliases: ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12	JUP	3728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110084	arrhythmogenic right ventricular dysplasia 13 Aliases: ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13	CTNNA3	29119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	Dync2h1	110350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	79659	Homo sapiens (human)	Alliance of Genome Resources

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