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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 **8601 - 8625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060564	spinal disease	FLNB TSC1	2317 7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050775	schneckenbecken dysplasia	SLC35D1	23169	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080381	nephrotic syndrome type 13	NUP205	23165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080066	autosomal recessive spinocerebellar ataxia 20 Aliases: SCAR20	SNX13	23161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	P2rx2	231602	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111784	otopalatodigital syndrome type 2 Aliases: Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111788	Melnick-Needles syndrome Aliases: MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
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:0060891	Parkinson's disease 19A Aliases: juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A	Dnajc6 Gak	231580 72685	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110355	retinitis pigmentosa 32 Aliases: RP32	CLCC1	23155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	CIC	23152	Homo sapiens (human)	Alliance of Genome Resources
DOID:150	disease of mental health	CIC GNPAT SNRNP70 STX1A	23152 6625 6804 8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111405	Fraser syndrome 1 Aliases: FRASRS1	Fras1	231470	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	Fras1 Frem1 Frem2 Grip1	231470 242022 329872 74053	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080688	mosaic variegated aneuploidy syndrome	SLF2 SMC5	23137 55719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081443	Stolerman neurodevelopmental syndrome	KDM6B	23135	Homo sapiens (human)	Alliance of Genome Resources

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