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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15551 - 15575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0080567	congenital disorder of glycosylation Ip Aliases: congenital disorder of glycosylation 1p	ALG11	855679	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
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	Alliance of Genome Resources
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH1	855691	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	LRO1	855742	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112372	Coffin-Siris syndrome 11 Aliases: CSS11	SNF12	855757	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	SNF12	855757	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050577	cranioectodermal dysplasia Aliases: Levin syndrome Sensenbrenner syndrome	SEC12	855760	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	ALG12	855764	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070403	hypomyelinating leukodystrophy 26 Aliases: HLD26	HUT1	855832	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3429	inclusion body myositis	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110012	advanced sleep phase syndrome 2 Aliases: FASPS2 familial advanced sleep phase syndrome 2	HRR25	855897	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060539	Hermansky-Pudlak syndrome 1	APL5	855906	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060284	paroxysmal nocturnal hemoglobinuria	GPI16 SPT14	855928 856595	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
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	Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	SPT14	855928	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10762	portal hypertension	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080827	human cytomegalovirus infection	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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