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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	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4851 - 4875** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	684314	Rattus norvegicus (Norway rat)
DOID:0111626	D-glyceric aciduria Aliases: D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome	Glyctk	235582	Mus musculus (house mouse)
DOID:0111619	combined D-2- and L-2-hydroxyglutaric aciduria Aliases: D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria combined D,L-2-hydroxyglutaric aciduria combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria	SLC25A1	6576	Homo sapiens (human)
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E	4907	Homo sapiens (human)
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	CAT PIK3CA PIK3CB PIK3CD PIK3CG PTEN SPHK2	5290 5291 5293 5294 56848 5728 847	Homo sapiens (human)
DOID:0111531	bilateral optic nerve hypoplasia Aliases: ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia	ALDH1A3 B3GALNT2 CNTN4 CRPPA DHCR7 FKRP FKTN GMPPB LARGE1 POMGNT1 POMK POMT1 POMT2 SRD5A3	10585 148789 152330 1717 220 2218 29925 29954 55624 729920 79147 79644 84197 9215	Homo sapiens (human)
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	ENPP1	5167	Homo sapiens (human)
DOID:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)
DOID:0111512	metachondromatosis Aliases: METCDS	DPEP1 EXT1 EXT2	1800 2131 2132	Homo sapiens (human)
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	Trp53	22059	Mus musculus (house mouse)
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	BRAF CFC1	55997 673	Homo sapiens (human)
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	Braf	109880	Mus musculus (house mouse)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	ZK1058.3	175506	Caenorhabditis elegans
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	GAL7	852306	Saccharomyces cerevisiae S288C
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	CYP51A1 G6PD GALE GALK1 GALM GALT GP2 LGALS1 UGP2 UGT8	130589 1595 2539 2582 2584 2592 2813 3956 7360 7368	Homo sapiens (human)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	14430	Mus musculus (house mouse)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	33935	Drosophila melanogaster (fruit fly)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	Galt	298003	Rattus norvegicus (Norway rat)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GAL10	852307	Saccharomyces cerevisiae S288C
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	Gale	38076	Drosophila melanogaster (fruit fly)

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