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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3251 - 3275** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111598	distal arthrogryposis type 1B Aliases: DA1B	MYBPC1	4604	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	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	63895	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	VPS13D	55187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111614	autosomal recessive spinocerebellar ataxia 22 Aliases: SCAR22	VWA3B	200403	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	SYNE1	23345	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	83959	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: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:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	GLYCTK	132158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111628	high myopia-sensorineural deafness syndrome Aliases: DFNMYP deafness and myopia deafness and myopia syndrome	SLITRK6	84189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111631	familial erythrocytosis 7 Aliases: ECYT7 alpha-globin type erythrocytosis alpha-globin type polycythemia	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111632	familial erythrocytosis 6 Aliases: ECYT6 beta-globin type erythrocytosis beta-globin type polycythemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111633	congenital sucrase-isomaltase deficiency Aliases: CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance	SI	6476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	TMEM132E	124842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111635	autosomal recessive nonsyndromic deafness 57 Aliases: DFNB57 autosomal recessive deafness 57	PDZD7	79955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111636	autosomal recessive nonsyndromic deafness 113 Aliases: DFNB113 autosomal recessive deafness 113	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111637	autosomal recessive nonsyndromic deafness 112 Aliases: DFNB112 autosomal recessive deafness 112	BDP1	55814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111638	autosomal recessive nonsyndromic deafness 100 Aliases: DFNB100 autosomal recessive deafness 100	PPIP5K2	23262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	MPZL2	10205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111641	autosomal recessive nonsyndromic deafness 94 Aliases: DFNB94 autosomal recessive deafness 94	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111643	autosomal recessive nonsyndromic deafness 115 Aliases: DFNB115 autosomal recessive deafness 115	SPNS2	124976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111646	congenital lactase deficiency Aliases: CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II	LCT	3938	Homo sapiens (human)	Alliance of Genome Resources

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