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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 **2201 - 2225** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111446	progressive myoclonus epilepsy 3 Aliases: CLN14 disease EPM3 PME type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 3 neuronal ceroid lipofuscinosis 14	GPATCH1	55094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	SCARB2	950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111441	optic atrophy 1 Aliases: OPA1	OPA1 WFS1	4976 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111438	optic atrophy 5 Aliases: OPA5	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111437	optic atrophy 7 Aliases: OPA7 optic atrophy 7 with or without auditory neuropathy	TMEM126A	84233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111436	optic atrophy 11 Aliases: OPA11	YME1L1	10730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	RTN4IP1	84816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111433	optic atrophy 3 Aliases: ADOAC OPA3 autosomal dominant optic atrophy 3 autosomal dominant optic atrophy and cataract autosomal dominant optic atrophy type 3 optic atrophy 3 with cataract	OPA3	80207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111432	essential tremor 5 Aliases: ETM5 hereditary essential tremor 5	TENM4	26011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111431	essential tremor 4 Aliases: ETM4 hereditary essential tremor 4	FUS	2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111428	essential tremor 1 Aliases: ETM1 hereditary essential tremor 1	DRD3	1814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111424	branchiootorenal syndrome 2 Aliases: BOR2	SIX5	147912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LMF1	64788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	APOC2	344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	SKIC2	6499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	SKIC3	9652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111412	exudative vitreoretinopathy 1 Aliases: EVR1	FZD4	8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111407	Fraser syndrome 2 Aliases: FRASRS2	FREM2	341640	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111406	Fraser syndrome 3 Aliases: FRASRS3	GRIP1	23426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	FRAS1	80144	Homo sapiens (human)	Alliance of Genome Resources

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