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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 **5101 - 5125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	SLC29A3	55315	Homo sapiens (human)	Alliance of Genome Resources
DOID:6652	diffuse idiopathic skeletal hyperostosis Aliases: Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis	SLC29A1	2030	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070168	spermatogenic failure 3 Aliases: SPGF3	SLC26A8 SRSF6	116369 6431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110513	autosomal recessive nonsyndromic deafness 61 Aliases: DFNB61 autosomal recessive deafness 61	SLC26A5	375611	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060296	congenital secretory chloride diarrhea 1 Aliases: congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1	SLC26A3	1811	Homo sapiens (human)	Alliance of Genome Resources
DOID:14687	diastrophic dysplasia	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2300	spondylolysis	SLC26A2	1836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080335	mitochondrial DNA depletion syndrome 12b	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Aliases: PEOA2 autosomal dominant progressive external ophthalmoplegia 2	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081328	familial hyperinsulinemic hypoglycemia 8	SLC25A33	84275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070450	mitochondrial DNA depletion syndrome 19	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	SLC25A10	1468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110063	amelogenesis imperfecta hypomaturation type 2A5 Aliases: AI2A5 amelogenesis imperfecta hypomaturation type IIA5 amelogenesis imperfecta type IIA5	SLC24A4	123041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	SLC24A1	9187	Homo sapiens (human)	Alliance of Genome Resources

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