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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 **1626 - 1650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	WNT10B	7480	Homo sapiens (human)	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:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	Atp13a2	74772	Mus musculus (house mouse)	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: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:0090067	Fuhrmann syndrome	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	WNT5A	7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112192	tetraamelia syndrome 1 Aliases: TETAMS1 tetra-amelia syndrome 1	WNT3	7473	Homo sapiens (human)	Alliance of Genome Resources
DOID:3996	urinary system cancer	WNT2	7472	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	WNT1	7471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080584	autosomal dominant Wolfram syndrome	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110584	autosomal dominant nonsyndromic deafness 6 Aliases: DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	Pomk	74653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	Pomk	74653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	Abca12	74591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060656	autosomal recessive congenital ichthyosis 1 Aliases: ARCI1	Abca12	74591	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	VWF	7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080634	nanophthalmos	MFRP MYRF	745 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	MFRP MYRF NOG	745 83552 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	ACVR1 COL18A1 MYRF	745 80781 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	Sost	74499	Mus musculus (house mouse)	Alliance of Genome Resources

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