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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 **14326 - 14350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	WNT5A	7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112181	Schinzel type phocomelia Aliases: AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:1618	breast fibroadenoma Aliases: Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast	WNT7B	7477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	Atp13a2	74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	Selenon	74777	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	WNT10B	7480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	XPC	7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	XPO1	7514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080260	autosomal recessive spinocerebellar ataxia 26 Aliases: SCAR26	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:6270	gastric cardia carcinoma Aliases: carcinoma of Cardia of stomach	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	YWHAG	7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111943	immunodeficiency 48 Aliases: IMD48 combined immunodeficiency due to ZAP70 deficiency zeta-associated-protein 70 deficiency	ZAP70	7535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060936	dystonia 28 childhood-onset Aliases: DYSTONIA 28, CHILDHOOD-ONSET DYT28	Kmt2b	75410	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081217	autosomal recessive intellectual developmental disorder 56	Zc3h14	75553	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	Ndufaf2	75597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	Gns	75612	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080281	schizophrenia 19	Rbm12	75710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	Crppa	75847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U Aliases: LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7	Crppa	75847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	Cant1	76025	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050737	autosomal recessive disease	Ncapg2	76044	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060814	Wilson-Turner syndrome Aliases: MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity	Las1l	76130	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	Abhd12	76192	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2977	primary hyperoxaluria	Grhpr	76238	Mus musculus (house mouse)	Alliance of Genome Resources

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