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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 **7126 - 7150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10632	Wolfram syndrome Aliases: WFS	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111441	optic atrophy 1 Aliases: OPA1	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	Pi4ka	224020	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	Scarf2	224024	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070367	leukoencephalopathy with vanishing white matter 5 Aliases: Cree leukoencephalopathy	Eif2b5	224045	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110347	osteogenesis imperfecta type 15 Aliases: OI15 osteogenesis imperfecta type XV	Wnt1	22408	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060893	juvenile-onset Parkinson's disease Aliases: juvenile-onset Parkinson disease	Atp13a2 Atp13a3 Atp13a5	224088 268878 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	Atp13a2 Atp13a3 Atp13a5	224088 268878 74772	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	Wnt10a	22409	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090026	split hand-foot malformation 6 Aliases: SHFM6	Wnt10b	22410	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3996	urinary system cancer	Wnt2	22413	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060774	congenital diarrhea	Acsl5 Plvap Wnt2b	22414 433256 84094	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112192	tetraamelia syndrome 1 Aliases: TETAMS1 tetra-amelia syndrome 1	Wnt3	22415	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	Wnt4	22417	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	Wnt5a	22418	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	Wnt5a	22418	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090067	Fuhrmann syndrome	Wnt7a	22421	Mus musculus (house mouse)	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	22421	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	22422	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110371	retinitis pigmentosa 56 Aliases: RP56	Impg2	224224	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	FGA FGB FGG	2243 2244 2266	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	FGA FGG NR1D1 SELP THBD	2243 2266 6403 7056 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources

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