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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 **9851 - 9875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0111765	X-linked cardiac valvular dysplasia Aliases: CVD1 Dystrophie valvulaire associee a FLNA EDS 5 Ehlers-Danlos syndrome, type 5 FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia XMVD	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112149	terminal osseous dysplasia Aliases: ODPD ODPF syndrome TOD TODPD digital osseous dysplasia with facial pigmentary defects and multiple frenula terminal osseous dysplasia-pigmentary defects syndrome	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111786	frontometaphyseal dysplasia 1 Aliases: FMD1	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111783	otopalatodigital syndrome type 1 Aliases: OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080096	myofibrillar myopathy 5 Aliases: filaminopathy	FLNA FLNB FLNC	2316 2317 2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111190	distal myopathy 4 Aliases: MPD4 distal ABD-filaminopathy distal muscular dystrophy 4 distal myopathy with posterior leg and anterior hand involvement	FLNA FLNB FLNC	2316 2317 2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070525	peeling skin syndrome 6 Aliases: PSS6	FLG2	388698	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110098	atopic dermatitis 2 Aliases: ATOD2	FLG	2312	Homo sapiens (human)	Alliance of Genome Resources
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	FLG LBR	2312 3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050387	nonpapillary renal cell carcinoma	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080218	primary spontaneous pneumothorax	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050676	Birt-Hogg-Dube syndrome	FLCN PRDM10	201163 56980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	FKTN	2218	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	FKRP	79147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	FKBP14	55033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	FKBP10	60681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060589	Yunis-Varon syndrome Aliases: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria Aliases: bilateral temporooccipital polymicrogyria	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources

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