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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 **8251 - 8275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111625	ventriculomegaly - cystic kidney disease Aliases: VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease	Crb2	241324	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111625	ventriculomegaly - cystic kidney disease Aliases: VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	Gnas	14683	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111621	Temtamy syndrome Aliases: Temtamy-Shalash syndrome craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome dysmorphism, corpus callosum agenesis and colobomas	Grcc10	14790	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111620	corneal dystrophy-perceptive deafness syndrome Aliases: CDPD CDPD1 Harboyan syndrome corneal dystrophy and perceptive deafness corneal dystrophy with progressive deafness corneal endothelial dystrophy and perceptive deafness	SLC4A11	83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111620	corneal dystrophy-perceptive deafness syndrome Aliases: CDPD CDPD1 Harboyan syndrome corneal dystrophy and perceptive deafness corneal dystrophy with progressive deafness corneal endothelial dystrophy and perceptive deafness	Slc4a11	269356	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	Syne1	64009	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	SYNE1	23345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111618	autosomal recessive spinocerebellar ataxia 8 Aliases: ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce	Msp300	3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111611	autosomal recessive spinocerebellar ataxia 4 Aliases: SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111611	autosomal recessive spinocerebellar ataxia 4 Aliases: SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions	VPS13A VPS13C VPS13D	23230 54832 55187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	Piezo2	667742	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111608	distal arthrogryposis type 5 Aliases: DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia	pezo-1	182492	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111607	distal arthrogryposis type 3 Aliases: DA3 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis multiplex congenita type IIA	pezo-1	182492	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111607	distal arthrogryposis type 3 Aliases: DA3 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis multiplex congenita type IIA	PIEZO2	63895	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111607	distal arthrogryposis type 3 Aliases: DA3 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis multiplex congenita type IIA	Piezo2	667742	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111605	distal arthrogryposis type 2A Aliases: DA2A distal arthrogryposis type 2A (Freeman-Sheldon)	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111605	distal arthrogryposis type 2A Aliases: DA2A distal arthrogryposis type 2A (Freeman-Sheldon)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111602	distal arthrogryposis type 2B3 Aliases: DA2B3 distal arthrogryposis type 2B3 (Sheldon-Hall)	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111602	distal arthrogryposis type 2B3 Aliases: DA2B3 distal arthrogryposis type 2B3 (Sheldon-Hall)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111599	distal arthrogryposis type 2B Aliases: DA2B Freeman-Sheldon syndrome variant Sheldon-Hall syndrome	Myh3	17883	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111598	distal arthrogryposis type 1B Aliases: DA1B	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources

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