GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **8576 - 8600** of **15957** in total

« First

‹ Prev

…

340

341

342

343

344

345

346

347

348

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	Aga Hexb Psap Slc17a5 Slc66a1	25524 290923 294673 362642 363103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	Psap Slc7a3	25524 29485	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	Psap Uqcrc1	25524 301011	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10581	metachromatic leukodystrophy Aliases: MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis	Psap	25524	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	Impg1 Prph2	25534 66014	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:980	choroidal sclerosis Aliases: Choroidal degenerations	Gucy2d Prph2	25534 79222	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060866	patterned macular dystrophy 1 Aliases: MDPT1 butterfly-shaped pigmentary maculary dystrophy 1	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060863	patterned macular dystrophy Aliases: patterned dystrophy of retinal pigment epithelium	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:7725	epilepsy with generalized tonic-clonic seizures Aliases: Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy	GABRA1 LGI1 LIG1	2554 3978 9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080431	developmental and epileptic encephalopathy 19 Aliases: DEE19 early infantile epileptic encephalopathy 19	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	Lrp2 Slc34a1	25548 29216	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	Slc34a1	25548	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080758	Fanconi renotubular syndrome 2	Slc34a1	25548	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050336	hypophosphatemia	Slc34a1	25548	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
DOID:0112214	developmental and epileptic encephalopathy 78 Aliases: DEE78 early infantile epileptic encephalopathy 78	GABRA2	2555	Homo sapiens (human)	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: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

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements