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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 **126 - 150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	GPH1	856289	Saccharomyces cerevisiae S288C
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	GPH1	856289	Saccharomyces cerevisiae S288C
DOID:3650	lactic acidosis	GPH1	856289	Saccharomyces cerevisiae S288C
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C
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	856220	Saccharomyces cerevisiae S288C
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	GPI2	856029	Saccharomyces cerevisiae S288C
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1	8560	Homo sapiens (human)
DOID:0070399	hypomyelinating leukodystrophy 18 Aliases: HLD18	DEGS1	8560	Homo sapiens (human)
DOID:0060284	paroxysmal nocturnal hemoglobinuria	SPT14	855928	Saccharomyces cerevisiae S288C
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	SPT14	855928	Saccharomyces cerevisiae S288C
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	SPT14	855928	Saccharomyces cerevisiae S288C
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	ALG12	855764	Saccharomyces cerevisiae S288C
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH1	855691	Saccharomyces cerevisiae S288C
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	855687	Saccharomyces cerevisiae S288C
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	855679	Saccharomyces cerevisiae S288C
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	855676	Saccharomyces cerevisiae S288C
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9	855502	Saccharomyces cerevisiae S288C
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:13628	favism	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	ZWF1	855480	Saccharomyces cerevisiae S288C
DOID:1591	renovascular hypertension	ZWF1	855480	Saccharomyces cerevisiae S288C

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