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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 **8101 - 8125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	KEL1	856563	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060287	cornea plana Aliases: flat cornea	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	KEX2 LAC1 LAG1 YCT1	850671 853861 855483 856386	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14679	VACTERL association	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:28	endocrine system disease	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111698	proprotein convertase 1/3 deficiency Aliases: PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112143	retinitis pigmentosa 86 Aliases: RP86	KIAA1549	57670	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	KIC1	856502	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110154	Charcot-Marie-Tooth disease type 2A1 Aliases: CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1	KIF1B	23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050941	spastic ataxia 2	KIF1C	10749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080143	congenital fibrosis of the extraocular muscles	KIF21A TUBB3	10381 55605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081015	congenital fibrosis of the extraocular muscles 1	KIF21A	55605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2 Aliases: SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	KIF22	3835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111399	congenital dyserythropoietic anemia type III Aliases: CDA III CDA type 3 CDA type III CDAN3 Congenital dyserythropoietic anaemia type 3 Congenital dyserythropoietic anemia type 3 anaemia with multinucleated erythroblasts anemia with multinucleated erythroblasts congenital dyserythropoietic anaemia type III hereditary benign erythroreticulosis	KIF23 SEC23B	10483 9493	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0090134	complex cortical dysplasia with other brain malformations 3 Aliases: CDCBM3	KIF2A	3796	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112040	non-syndromic X-linked intellectual disability 100 Aliases: MRX100 X-linked mental retardation 100	KIF4A	24137	Homo sapiens (human)	Alliance of Genome Resources
DOID:13223	uterine fibroid Aliases: Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma	KIN1 KIN2	850785 851700	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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