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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3626 - 3650** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:9286	priapism Aliases: Mentulagra	G6PD GLA KL PTDSS1	2539 2717 9365 9791	Homo sapiens (human)
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	G6PD GPI HK1 PKLR TPI1	2539 2821 3098 5313 7167	Homo sapiens (human)
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	G6PD HK1 PKLR	2539 3098 5313	Homo sapiens (human)
DOID:582	hemoglobinuria	G6PD PIGA	2539 5277	Homo sapiens (human)
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	G6PD STS	2539 412	Homo sapiens (human)
DOID:3262	phagocyte bactericidal dysfunction Aliases: phagocytic dysfunction	G6PD	2539	Homo sapiens (human)
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)
DOID:0060346	Native American myopathy Aliases: Bailey-Bloch congenital myopathy congenital myopathy 13	G6PD	2539	Homo sapiens (human)
DOID:12919	Plasmodium ovale malaria Aliases: Malariaby Plasmodium ovale Ovale malaria	G6PD	2539	Homo sapiens (human)
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	GAD1 GAD2 GLUL HSD17B4 ISYNA1 PLA2G1B PLA2G2A PLA2G6	2571 2572 2752 3295 51477 5319 5320 8398	Homo sapiens (human)
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)
DOID:9274	hyperlysinemia	GAD1 GCDH HMGCL PC	2571 2639 3155 5091	Homo sapiens (human)
DOID:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GAD1 GCDH	2571 2639	Homo sapiens (human)
DOID:12700	hyperprolactinemia Aliases: Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia	GAD1 HSD3B1 HSD3B2 LPL SRD5A1 SRD5A2	2571 3283 3284 4023 6715 6716	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: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: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: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:4644	epidermolysis bullosa simplex	GALK1 PLOD3	2584 8985	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)

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