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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 **8351 - 8375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3 PDLIM5 PDLIM7	10611 11155 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110423	dilated cardiomyopathy 1C Aliases: CMDC1 dilated cardiomyopathy 1C with or without left ventricular noncompaction	LDB3	11155	Homo sapiens (human)	Alliance of Genome Resources
DOID:3345	xanthomatosis Aliases: xanthelasmatosis	LDLR	3949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110243	cataract 46 juvenile-onset Aliases: CTRCT46 juvenilae cataract Hutterite type	LEMD2 LEMD3	221496 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	LFNG	3955	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	LGI1	9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080978	arthrogryposis multiplex congenita-1	LGI4	163175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060604	ankyloglossia Aliases: tongue-tie	LGR5	8549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	LHB	3972	Homo sapiens (human)	Alliance of Genome Resources
DOID:3114	serous cystadenocarcinoma Aliases: serous adenocarcinoma serous carcinoma	LHCGR TP53 XPC	3973 7157 7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:3603	mucinous cystadenocarcinoma Aliases: Pseudomucinous cystadenocarcinoma	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:2277	gonadal disease	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111545	familial male-limited precocious puberty Aliases: FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111974	immunodeficiency 59 Aliases: IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia	LHS1	853789	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070451	mitochondrial DNA depletion syndrome 20 Aliases: mitochondrial DNA depletion syndrome 20 (MNGIE type)	LIG3	3980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110263	cataract 19 multiple types Aliases: CTRCT19	LIM2	3982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W Aliases: LGMD2W muscular dystrophy, limb-girdle, type 2W	LIMS2	55679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081225	autosomal recessive intellectual developmental disorder 64	LINGO1	84894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	LIPH	200879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	LIPN	643418	Homo sapiens (human)	Alliance of Genome Resources

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