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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 **151 - 175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080054	achondrogenesis type IA Aliases: achondrogenesis Houston-Harris type	TRIP11	9321	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080234	Clark-Baraitser syndrome Aliases: Baraitser syndrome CLABARS autosomal dominant intellectual disability 49 autosomal dominant mental retardation 49	TRIP12	9320	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080689	mosaic variegated aneuploidy syndrome 3	TRIP13	9319	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	MMP20	9313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081148	common variable immunodeficiency 5	MS4A1	931	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081146	common variable immunodeficiency 3	CD19	930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110519	autosomal recessive nonsyndromic deafness 68 Aliases: DFNB68 autosomal recessive deafness 68	S1PR2	9294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050942	spastic ataxia 3	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111468	combined oxidative phosphorylation deficiency 25 Aliases: COXPD25	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080924	bilateral perisylvian polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080922	bilateral frontoparietal polymicrogyria	ADGRG1	9289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070281	primary autosomal recessive microcephaly 19 Aliases: MCPH19	COPB2	9276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110596	primary ciliary dyskinesia 21 Aliases: CILD21 primary ciliary dyskinesia 21 without situs inversus	DRC1	92749	Homo sapiens (human)	Alliance of Genome Resources
DOID:4415	fibrous histiocytoma Aliases: Fibroxanthoma benign fibrous histiocytoma	MFHAS1	9258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112136	severe congenital neutropenia 4 Aliases: Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome	G6PC3	92579	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	AIMP1	9255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080329	cold-induced sweating syndrome 1	CRLF1	9244	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080787	proximal symphalangism 1	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050789	tarsal-carpal coalition syndrome	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110975	brachydactyly type B2 Aliases: BDB2	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy Aliases: PMSE PMSE syndrome Pretzel syndrome	STRADA	92335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111021	cone-rod dystrophy 15 Aliases: CORD15	CDHR1	92211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy Aliases: Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources

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