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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 **1151 - 1175** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:8596	scarlet fever Aliases: Scarlatina	GALNS	2588	Homo sapiens (human)
DOID:9602	necrotizing fasciitis	GALNS RECK	2588 8434	Homo sapiens (human)
DOID:12514	retinal perforation Aliases: Retinal break Retinal dialysis Retinal tear	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:7633	macular holes Aliases: Macular hole	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:13214	hole retinal cyst Aliases: Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	APRT ARSB GALNS GLB1 IDS IDUA NAGLU ST3GAL1 ST3GAL2 ST3GAL4 SUMF1	2588 2720 285362 3423 3425 353 411 4669 6482 6483 6484	Homo sapiens (human)
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	GALK1	2584	Homo sapiens (human)
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	GALK1	2584	Homo sapiens (human)
DOID:0080510	epidermolysis bullosa simplex localized type Aliases: epidermolysis bullosa simplex Weber-Cockayne type	GALK1	2584	Homo sapiens (human)
DOID:4644	epidermolysis bullosa simplex	GALK1 PLOD3	2584 8985	Homo sapiens (human)
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	COG4	25839	Homo sapiens (human)
DOID:0070262	congenital disorder of glycosylation type IIj Aliases: CDG IIj CDG syndrome type IIj CDG2J CDGIIdj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j	COG4	25839	Homo sapiens (human)
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)
DOID:0060169	benign familial infantile epilepsy Aliases: BFIC BFIE benign familial infantile convulsion benign familial infantile seizures	GALE	2582	Homo sapiens (human)
DOID:14777	benign familial neonatal epilepsy Aliases: familial neonatal seizures	GALE	2582	Homo sapiens (human)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	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 GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1 GALC PSAP	2581 427 5660	Homo sapiens (human)
DOID:0111382	ischiocoxopodopatellar syndrome Aliases: SPS Scott-Taor syndrome congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis small patella syndrome	GAD2 PLA2G1B PLA2G2A PLA2G6	2572 5319 5320 8398	Homo sapiens (human)
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	ALDH5A1 ASAH1 CACNA2D2 GAD2 GLDC GMPPB MCAT ME2 NPL SLC2A3	2572 2731 27349 29925 4200 427 6515 7915 80896 9254	Homo sapiens (human)
DOID:439	neuromuscular junction disease	ACHE GAD2 GFPT1 IDH3A	2572 2673 3419 43	Homo sapiens (human)
DOID:12883	hypochondriasis Aliases: Hypochondria Hypochondriacal disorder hypochondriacal neurosis	GAD1	2571	Homo sapiens (human)
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CAT CNTN3 GAD1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP	2571 5067 5290 5291 5293 5294 5621 847	Homo sapiens (human)

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