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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 **3101 - 3125** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	25659	Rattus norvegicus (Norway rat)
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	16548	Mus musculus (house mouse)
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	25283	Rattus norvegicus (Norway rat)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)
DOID:0111681	glutamate-cysteine ligase deficiency Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	Gclc	14629	Mus musculus (house mouse)
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	Ostgamma	34137	Drosophila melanogaster (fruit fly)
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	OST3	854252	Saccharomyces cerevisiae S288C
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	dlp	39596	Drosophila melanogaster (fruit fly)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	50786	Mus musculus (house mouse)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	378450	Danio rerio (zebrafish)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	hs6st2	100496603	Xenopus tropicalis (tropical clawed frog)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st2	302489	Rattus norvegicus (Norway rat)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	Hs6st	42380	Drosophila melanogaster (fruit fly)

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