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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 **4576 - 4600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0070341	neonatal-onset type II citrullinemia Aliases: neonatal-onset type 2 citrullinemia	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070450	mitochondrial DNA depletion syndrome 19	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	Slc25a10	27376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110063	amelogenesis imperfecta hypomaturation type 2A5 Aliases: AI2A5 amelogenesis imperfecta hypomaturation type IIA5 amelogenesis imperfecta type IIA5	Slc24a4	238384	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	Slc24a1	56814	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	Slc24a1	214111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Slc22a5	29726	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Slc22a21 Slc22a5	20520 56517	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly Aliases: SPATCCM	Slc1a4	55963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	Slc1a2	29482	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	Slc1a2	20511	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	Slc1a1	25550	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	Slc1a1	25550	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	Slc1a1 Slc1a3 Slc1a6	25550 29483 84012	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	Slc1a1 Slc1a3 Slc1a4 Slc1a6 Slc1a7	20510 20512 20513 242607 55963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	Slc19a2	116914	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	Slc19a2 Slc19a3	116914 80721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	Slc19a1	29723	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050659	biotin-responsive basal ganglia disease	Slc19a1	29723	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2531	hematologic cancer Aliases: Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm	Slc19a1 Tp53	24842 29723	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	Slc18a3	60422	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070490	infantile parkinsonism-dystonia 2 Aliases: Brain dopamine-serotonin vesicular transport disease PKDYS2	Slc18a2	25549	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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