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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 **2651 - 2675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:1591	renovascular hypertension	acn-1 asp-1 gspd-1 lam-3 nhx-3 nhx-9 ntr-1 ntr-2 pbo-4 pxn-1 pxn-2	172952 178046 178126 180251 180780 181285 181288 183811 184471 188227 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060966	dystonia 22, juvenile-onset	Tspoap1	207777	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110250	cataract 16 multiple types Aliases: CTRCT16	Cryab	25420	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	Ndufb11	299310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	Cln5	211286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	Acvrl1 Eng Map2 Mmp9 Tek	11482 13805 17395 17756 21687	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3798	pleural empyema Aliases: Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax	Tnc Trem1	21923 58217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis Aliases: NSIAD	Avpr2	25108	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	Col7a1	12836	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111735	X-linked deafness 4 Aliases: DFN6 DFNX4 X-linked progressive deafness 6 nonsyndromic sensorineural progressive deafness 6	SMPX	23676	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	NGLY1	55768	Homo sapiens (human)	Alliance of Genome Resources
DOID:2018	hyperinsulinism Aliases: hyperinsulinemia	Hex-t1 Hex-t2 Lar Mtp	117364 35259 35362 43191	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060564	spinal disease	FLNB TSC1	2317 7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:11661	blue color blindness Aliases: Tritan defect Tritanopia	opn1sw1	30582	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	Casr	24247	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080450	developmental and epileptic encephalopathy 17 Aliases: DEE17 early infantile epileptic encephalopathy 17	Gnao1	14681	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060239	Van der Woude syndrome	Grhl3	230824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080930	primary localized cutaneous amyloidosis 1 Aliases: familial primary localized cutaneous amyloidosis-1	OSMR	9180	Homo sapiens (human)	Alliance of Genome Resources
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	tmem231	393358	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111999	immunodeficiency 61 Aliases: IMD61	SH3KBP1	30011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	Nedd4 Scnn1a Scnn1b Scnn1g Wwp2	17999 20276 20277 20278 66894	Mus musculus (house mouse)	Alliance of Genome Resources

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